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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Multiple Abnormalities
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Accession:DOID:9007653 term browser browse the term
Definition:Congenital abnormalities that affect more than one organ or body structure.
Synonyms:exact_synonym: MULTIPLE CONGENITAL ANOMALIES;   Multisystem Disorder
 narrow_synonym: H3F3A-RELATED CONDITION;   Multiple congenital anomalies-hypotonia-seizures syndrome
 primary_id: MESH:D000015
 alt_id: RDO:0000254
For additional species annotation, visit the Alliance of Genome Resources.


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Multiple Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 AF4/FMR2 family, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr10:38,692,167...38,773,021
Ensembl chr10:38,692,211...38,773,021
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:24652800 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone susceptibility ISO DNA:mutations: ; mitochondrial complex III deficiency, OMIM:124000 RGD PMID:11528392 RGD:1600515 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
G Cdh3 cadherin 3 susceptibility ISO EEM syndrome, OMIM:225280;DNA:deletion, missense mutation:c.829delG, p.N332I RGD PMID:15805154 RGD:1600801 NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961246 NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
JBrowse link
G Crlf1 cytokine receptor-like factor 1 susceptibility ISO Cold-induced sweating syndrome-1, OMIM:272430 RGD PMID:12509788 RGD:1600970 NCBI chr16:20,675,042...20,686,365
Ensembl chr16:20,675,042...20,686,317
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975441 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Multiple congenital anomalies ClinVar PMID:11331617, PMID:12114483, PMID:13983033, PMID:15706485, PMID:16428436, PMID:17220215, PMID:17299436, PMID:18792986, PMID:19353645, PMID:20014264, PMID:20717166, PMID:21679367, PMID:24352918, PMID:24476420, PMID:25712426, PMID:25741868, PMID:26279656, PMID:26486927, PMID:27465822, PMID:27648933, PMID:27964710 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21984484 NCBI chr12:17,309,122...17,315,267
Ensembl chr12:17,309,834...17,311,112
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975441 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G H3f3a H3 histone family member 3A ISO ClinVar Annotator: match by term: H3F3A-related condition ClinVar PMID:9441765, PMID:10556297, PMID:16472024, PMID:17220215, PMID:19344873, PMID:19348700, PMID:20976243, PMID:21782046, PMID:21937992, PMID:23415232, PMID:25348405, PMID:25741868, PMID:26139371 NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO Costello syndrome, OMIM:218040 RGD PMID:17056636 RGD:1600477 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Multisystem disorder ClinVar PMID:11601507 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Nphp3 nephrocystin 3 ISO DNA:missense mutation, nonsense mutations, splice-site mutations:multiple RGD PMID:18371931 RGD:11352488 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18057082 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies ClinVar PMID:9695949, PMID:23159249, PMID:25326635, PMID:25356970, PMID:25522177, PMID:25741868, PMID:26795593, PMID:26842493, PMID:26944241, PMID:27681385, PMID:28111752, PMID:28471432, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28975623, PMID:29550517, PMID:30113927, PMID:30311386, PMID:30690871 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:18759867 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO Townes-Brocks syndrome, OMIM:602218 RGD PMID:11102974, PMID:16088922 RGD:1599553, RGD:1599551 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436468 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISO RGD PMID:12543979 RGD:1581319 NCBI chr14:114,517,839...114,700,199
Ensembl chr14:114,518,816...114,692,764
JBrowse link
G Tasp1 taspase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies ClinVar PMID:25741868 NCBI chr 3:132,888,785...133,131,213
Ensembl chr 3:132,888,772...133,131,192
JBrowse link
G Tbx3 T-box transcription factor 3 susceptibility ISO Ulnar-Mammary Syndrome, OMIM:181450;DNA:deletions, missense mutations, frameshift mutations: :multiple RGD PMID:10330342 RGD:1601419 NCBI chr12:42,479,518...42,494,588
Ensembl chr12:42,480,560...42,492,526
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21466819 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B susceptibility ISO Cohen syndrome, OMIM:216550:DNA:deletion mutation, nonsense mutation, missense mutation RGD PMID:12730828 RGD:1357205 NCBI chr 7:74,118,834...74,722,341 JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies ClinVar PMID:19646678, PMID:24126608, PMID:25356970, PMID:25741868, PMID:27281532, PMID:28492532 NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
JBrowse link
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,766,441...54,843,795
Ensembl chr19:54,766,589...54,840,569
JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,731,829...54,761,697
Ensembl chr19:54,731,859...54,761,670
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,438,409...55,510,652
Ensembl chr19:55,441,572...55,510,460
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,669,661...55,689,986
Ensembl chr19:55,669,626...55,689,992
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,929,555...55,946,251
Ensembl chr19:55,929,609...55,946,250
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,300,531...55,305,543
Ensembl chr19:55,300,395...55,305,702
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,487,610...53,625,673
Ensembl chr19:53,487,613...53,625,673
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,246,926...55,248,688
Ensembl chr19:55,246,926...55,248,205
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,553,419...54,613,477
Ensembl chr19:54,553,419...54,613,477
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,651,911...54,652,381
Ensembl chr19:54,651,911...54,652,381
JBrowse link
G LOC687560 hypothetical protein LOC687560 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,467,806...53,481,093
Ensembl chr19:53,468,054...53,477,420
JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,635,449...53,643,970
Ensembl chr19:53,629,779...53,646,058
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,430,808...55,434,252
Ensembl chr19:55,430,810...55,434,252
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,290,563...55,300,403
Ensembl chr19:55,290,563...55,300,403
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,917,489...55,920,040
Ensembl chr19:55,917,736...55,919,996
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,693,959...54,722,563
Ensembl chr19:54,693,959...54,722,563
JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,276,211...55,290,031
Ensembl chr19:55,277,549...55,284,663
JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,197,348...55,241,800
Ensembl chr19:55,197,704...55,241,851
JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,644,500...53,688,624
Ensembl chr19:53,647,815...53,688,597
JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:21,444,833...21,466,474
Ensembl chr 8:21,448,618...21,458,379
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,843,864...55,083,935 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,094,585...55,150,994
Ensembl chr19:55,094,585...55,150,686
JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,154,533...74,333,244
Ensembl chr13:74,154,835...74,333,244
JBrowse link
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Angptl1 angiopoietin-like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,456,487...74,463,031
Ensembl chr13:74,410,010...74,474,681
JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,973,578...79,000,356
Ensembl chr13:78,979,321...78,991,997
JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:76,054,965...76,370,674
Ensembl chr13:76,055,410...76,370,674
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,592,170...82,607,379
Ensembl chr13:82,592,170...82,607,379
JBrowse link
G Brinp2 BMP/retinoic acid inducible neural specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:75,948,679...76,049,363
Ensembl chr13:75,948,679...76,049,363
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,899,445...72,534,992
Ensembl chr13:71,906,702...72,367,980
JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,948,771...77,959,089
Ensembl chr13:77,948,771...77,959,110
JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,574,980...82,588,637
Ensembl chr13:82,574,966...82,588,640
JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,886,092...78,901,025
Ensembl chr13:78,886,163...78,901,420
JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,499,715...73,637,707
Ensembl chr13:73,499,229...73,638,073
JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:76,942,883...77,076,015
Ensembl chr13:76,942,928...77,075,723
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,885,503...70,922,278
Ensembl chr13:70,885,504...70,922,245
JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,906,711...80,379,967
Ensembl chr13:79,910,382...80,379,929
JBrowse link
G Eef1aknmt eEF1A lysine and N-terminal methyltransferase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,427,595...80,441,353
Ensembl chr13:80,420,025...80,441,374
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fam163a family with sequence similarity 163, member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,741,674...73,820,114
Ensembl chr13:73,741,679...73,819,896
JBrowse link
G Fam20b FAM20B, glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,280,173...74,333,463
Ensembl chr13:74,280,173...74,331,214
JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,712,885...80,745,095
Ensembl chr13:80,712,882...80,745,347
JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,752,526...80,775,264
Ensembl chr13:80,755,058...80,775,264
JBrowse link
G Fmo3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,837,418...80,856,214
Ensembl chr13:80,837,420...80,862,963
JBrowse link
G Fmo4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,685,385...80,703,575
Ensembl chr13:80,685,325...80,703,615
JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,852,523...78,855,844 JBrowse link
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gorab golgin, RAB6-interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:81,682,207...81,698,827
Ensembl chr13:81,682,018...81,698,833
JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,326,545...78,331,349
Ensembl chr13:78,326,545...78,329,680
JBrowse link
G Ier5 immediate early response 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,742,210...72,744,302
Ensembl chr13:72,742,210...72,744,303
JBrowse link
G Kifap3 kinesin-associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,072,497...82,217,256
Ensembl chr13:82,072,497...82,217,252
JBrowse link
G Klhl20 kelch-like family member 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,912,361...78,957,226
Ensembl chr13:78,912,361...78,957,212
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,656,727...70,783,515
Ensembl chr13:70,658,707...70,783,515
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G LOC100302372 hypothetical protein LOC100302372 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,784,516...77,822,333
Ensembl chr13:77,784,808...77,822,333
JBrowse link
G LOC498265 similar to hypothetical protein FLJ10706 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,254,516...82,298,467
Ensembl chr13:82,254,453...82,298,404
JBrowse link
G LOC684709 similar to putative membrane protein Re9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,304,452...71,308,203
Ensembl chr13:71,305,548...71,306,456
JBrowse link
G Mettl11b methyltransferase like 11B ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:81,987,877...82,027,781
Ensembl chr13:81,988,926...82,006,005
JBrowse link
G Mettl18 methyltransferase like 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,298,534...82,300,763
Ensembl chr13:82,298,534...82,300,657
JBrowse link
G Mir199a2 microRNA 199a-2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,125,487...80,125,596
Ensembl chr13:80,125,487...80,125,596
JBrowse link
G Mir3120 microRNA 3120 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,130,909...80,131,025
Ensembl chr13:80,130,909...80,131,025
JBrowse link
G Mr1 major histocompatibility complex, class I-related ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,771,992...72,789,861
Ensembl chr13:72,771,984...72,789,841
JBrowse link
G Mroh9 maestro heat-like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,928,982...80,986,373
Ensembl chr13:80,928,995...80,968,971
JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,940,454...77,946,201
Ensembl chr13:77,940,454...77,946,201
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,607,844...82,737,383
Ensembl chr13:82,626,685...82,737,343
JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,379,346...70,559,311
Ensembl chr13:70,379,346...70,559,458
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
JBrowse link
G Pappa2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:76,389,150...76,660,248
Ensembl chr13:76,389,150...76,660,245
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Prrc2c proline-rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,544,789...80,614,925 JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,423,396...73,460,890
Ensembl chr13:73,423,397...73,460,935
JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,975,392...78,609,009
Ensembl chr13:78,011,047...78,609,045
JBrowse link
G Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,446,001...74,520,640
Ensembl chr13:74,422,944...74,564,184
JBrowse link
G Rasal2 RAS protein activator like 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,770,557...75,059,298
Ensembl chr13:74,771,522...75,059,326
JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,723,028...78,794,663
Ensembl chr13:78,722,763...78,789,266
JBrowse link
G RGD1304622 similar to 6820428L09 protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,860,313...72,900,020
Ensembl chr13:72,861,090...72,893,187
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
JBrowse link
G Rgs16 regulator of G-protein signaling 16 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,163,411...71,185,147
Ensembl chr13:71,179,910...71,185,216
JBrowse link
G Rgs8 regulator of G-protein signaling 8 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,086,654...71,141,820
Ensembl chr13:71,086,745...71,141,075
JBrowse link
G Rgsl1 regulator of G-protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,206,268...71,276,799
Ensembl chr13:71,209,560...71,276,497
JBrowse link
G Rnasel ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
JBrowse link
G Scyl3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,230,938...82,255,640
Ensembl chr13:82,231,030...82,254,318
JBrowse link
G Sec16b SEC16 homolog B, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:75,153,074...75,216,941
Ensembl chr13:75,175,254...75,216,941
JBrowse link
G Sele selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Sell selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Selp selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpinc1 serpin family C member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Shcbp1l SHC binding and spindle associated 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,852,044...70,882,336
Ensembl chr13:70,852,023...70,882,340
JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:82,552,586...82,566,586
Ensembl chr13:82,552,550...82,566,586
JBrowse link
G Slc9c2 solute carrier family 9, member C2 (putative) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:79,000,368...79,073,060
Ensembl chr13:79,000,037...79,079,429
JBrowse link
G Smg7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:70,258,919...70,321,886
Ensembl chr13:70,258,915...70,321,752
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783
JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
JBrowse link
G Suco SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:79,736,485...79,801,133
Ensembl chr13:79,736,482...79,801,561
JBrowse link
G Tdrd5 tudor domain containing 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,872,637...73,922,640
Ensembl chr13:73,872,621...73,921,969
JBrowse link
G Tex35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,729,455...74,740,685
Ensembl chr13:74,729,467...74,740,458
JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:79,378,412...79,388,687
Ensembl chr13:79,378,733...79,388,498
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,829,384...77,896,831
Ensembl chr13:77,829,382...77,896,697
JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:77,602,249...77,678,385
Ensembl chr13:77,485,113...77,678,437
JBrowse link
G Tor1aip1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,670,649...73,704,668
Ensembl chr13:73,670,141...73,704,678
JBrowse link
G Tor1aip2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:73,704,088...73,735,339
Ensembl chr13:73,708,815...73,735,339
Ensembl chr13:73,708,815...73,735,339
JBrowse link
G Tor3a torsin family 3, member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:74,246,504...74,277,694
Ensembl chr13:74,252,405...74,276,964
JBrowse link
G Vamp4 vesicle-associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr13:80,460,699...80,483,597
Ensembl chr13:80,460,694...80,483,600
JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:25741868, PMID:26333682 NCBI chr13:78,836,491...78,852,224
Ensembl chr13:78,836,587...78,852,182
JBrowse link
G Zfp648 zinc finger protein 648 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129, PMID:21681106, PMID:26333682 NCBI chr13:71,652,464...71,659,187
Ensembl chr13:71,656,651...71,658,255
JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,711,269...81,717,594 JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172
JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,741,342...81,757,806
Ensembl chr11:81,741,297...81,757,813
JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,373,047...81,379,680
Ensembl chr11:81,373,048...81,379,871
JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,648,890...81,660,472
Ensembl chr11:81,648,885...81,660,395
JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,621,274...81,639,938
Ensembl chr11:81,621,283...81,639,952
JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by OMIM:257920
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17937425, PMID:18266249, PMID:21035106, PMID:21258343, PMID:22966085, PMID:25741868, PMID:28492532, PMID:28794230, PMID:29407414 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,358,592...81,373,044
Ensembl chr11:81,358,592...81,373,043
JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr10:5,529,580...5,533,695
Ensembl chr10:5,529,589...5,533,695
JBrowse link
G Rtp1 receptor (chemosensory) transporter protein 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:80,823,989...80,826,505
Ensembl chr11:80,823,989...80,826,505
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:80,927,601...80,981,424
Ensembl chr11:80,927,601...80,981,422
JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532, PMID:29407414 NCBI chr11:81,757,963...81,794,367
Ensembl chr11:81,757,983...81,794,580
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:265050
OMIM
ClinVar
CTD
PMID:2569826, PMID:8933348, PMID:21258343, PMID:25741868 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:8528239, PMID:8571951, PMID:8931695, PMID:9342225, PMID:10465113, PMID:10482955, PMID:11241838, PMID:11303514, PMID:11448940, PMID:11565064, PMID:12525546, PMID:12966518, PMID:15294877, PMID:15316973, PMID:16642506, PMID:18708426, PMID:18925670, PMID:20219950, PMID:20301524, PMID:20525296, PMID:21077202, PMID:21077204, PMID:21155763, PMID:21922596, PMID:22052783, PMID:23840040, PMID:24033266, PMID:24598000, PMID:25741868, PMID:27065010, PMID:28492532, PMID:29024831 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Malpuech facial clefting syndrome ClinVar
OMIM
PMID:28301481 NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
ABCD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: ABCD syndrome OMIM
ClinVar
PMID:7778600, PMID:11891690, PMID:25741868, PMID:26100139, PMID:26467025 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
ablepharon macrostomia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Ablepharon macrostomia syndrome OMIM
ClinVar
PMID:8746822, PMID:11038439, PMID:11807864, PMID:15103726, PMID:20691403, PMID:21595001, PMID:25410422, PMID:25741868, PMID:26119818 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
JBrowse link
Adams-Oliver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Scalp defect congenital ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
JBrowse link
G Bms1 BMS1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Scalp defect congenital ClinVar PMID:23785305 NCBI chr 4:150,433,567...150,471,783
Ensembl chr 4:150,433,570...150,471,834
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:26299364, PMID:29924900 NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD
ClinVar
PMID:21820096, PMID:24033266, PMID:25558065 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23522784, PMID:25558065 NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
Adams-Oliver Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 OMIM
ClinVar
PMID:474617, PMID:16451141, PMID:21565291, PMID:25741868, PMID:28492532, PMID:29924900 NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:25741868, PMID:26457590, PMID:29924900 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
Adams-Oliver Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2
ClinVar Annotator: match by OMIM:614219
OMIM
ClinVar
PMID:8849019, PMID:12955720, PMID:17159513, PMID:20301788, PMID:21820096, PMID:23522784, PMID:25558065, PMID:25741868, PMID:25824905, PMID:26457590, PMID:28492532, PMID:28884918, PMID:29924900, PMID:30111349 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
Adams-Oliver Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 3
ClinVar Annotator: match by OMIM:614814
OMIM
ClinVar
PMID:22883147, PMID:29924900 NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
JBrowse link
Adams-Oliver Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 4
ClinVar Annotator: match by OMIM:615297
OMIM
ClinVar
PMID:23522784, PMID:23860037, PMID:25558065, PMID:25741868, PMID:28492532, PMID:29924900 NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
JBrowse link
Adams-Oliver Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar Annotator: match by OMIM:616028
OMIM
ClinVar
PMID:1621771, PMID:10221902, PMID:10946361, PMID:15959515, PMID:16025100, PMID:16729972, PMID:17662764, PMID:18593716, PMID:19597493, PMID:19610107, PMID:20007775, PMID:20951801, PMID:21457232, PMID:22245843, PMID:22307742, PMID:22318994, PMID:23102684, PMID:23578328, PMID:23613382, PMID:24033266, PMID:24113472, PMID:24273032, PMID:24728327, PMID:24862819, PMID:25132448, PMID:25260786, PMID:25500235, PMID:25587027, PMID:25741868, PMID:25907466, PMID:25914885, PMID:25931334, PMID:25963545, PMID:26188975, PMID:26699486, PMID:26708639, PMID:26820064, PMID:27760138, PMID:27989580, PMID:28160419, PMID:28387797, PMID:28492532, PMID:28991257, PMID:29907982, PMID:29924900, PMID:30059548, PMID:30115950, PMID:30311386, PMID:30609409 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:19597493, PMID:28492532 NCBI chr 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215
JBrowse link
Adams-Oliver Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 6
ClinVar Annotator: match by term: Adams-Oliver syndrome 6
ClinVar
OMIM
PMID:25741868, PMID:26299364, PMID:29924900 NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
JBrowse link
Adducted Thumbs Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20004762 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838, PMID:8737655, PMID:9443880, PMID:11462173, PMID:11528512, PMID:11929852, PMID:16114047, PMID:16724007, PMID:16740912, PMID:17041931, PMID:17431922, PMID:18603493, PMID:18626511, PMID:19530185, PMID:19781362, PMID:20543567, PMID:21204238, PMID:25741868, PMID:27469932, PMID:28492532 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Dysgnathia complex
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:202650
OMIM
ClinVar
CTD
PMID:12244557, PMID:21294718, PMID:22211708, PMID:22674740, PMID:23444262, PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISS OMIM:202650 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
Al Kaissi Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: AL KAISSI SYNDROME ClinVar
OMIM
PMID:25741868, PMID:28886341 NCBI chr19:56,024,903...56,032,610
Ensembl chr19:56,024,903...56,032,605
JBrowse link
Al-Gazali Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Al-Gazali syndrome ClinVar PMID:10319196, PMID:25149931, PMID:28492532, PMID:29443383, PMID:29931299 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
Alagille syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alagille syndrome 1
ClinVar Annotator: match by term: Arteriohepatic dysplasia
ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:118450
DNA:insertion:exon:c.962_963insA (human)
ClinVar
CTD
OMIM
PMID:9207787, PMID:9207788, PMID:9585603, PMID:9700188, PMID:10213047, PMID:10220506, PMID:10533065, PMID:11058898, PMID:11139239, PMID:11152664, PMID:11157803, PMID:11180599, PMID:12022040, PMID:12239725, PMID:12244555, PMID:12297837, PMID:12442286, PMID:12497640, PMID:12649809, PMID:15358557, PMID:15712272, PMID:16575836, PMID:16875832, PMID:17241866, PMID:17720887, PMID:17949281, PMID:18660822, PMID:19058200, PMID:19948535, PMID:20301450, PMID:20437614, PMID:20586101, PMID:21532573, PMID:21752016, PMID:22040217, PMID:22382802, PMID:22487239, PMID:23891399, PMID:23956173, PMID:24033266, PMID:24748328, PMID:25260786, PMID:25525159, PMID:25676721, PMID:25741868, PMID:26076142, PMID:26548814, PMID:26760175, PMID:27256232, PMID:28372585, PMID:28492532, PMID:28695677, PMID:29187043, PMID:29783821, PMID:30074189, PMID:11745040, PMID:16875832, PMID:21714972 RGD:1580651, RGD:6482237, RGD:6482232 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Alagille syndrome 2
ClinVar Annotator: match by OMIM:610205
ClinVar
OMIM
PMID:16773578, PMID:24728327, PMID:25016221, PMID:25741868, PMID:16773578 RGD:1580762 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 3:129,884,871...130,069,371
Ensembl chr 3:129,885,826...130,069,390
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Alagille syndrome 1 ClinVar PMID:10213047, PMID:16575836, PMID:19058200, PMID:22382802, PMID:28492532 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833, PMID:25741868, PMID:30006060 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:203800
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
CTD
OMIM
PMID:9063741, PMID:9409865, PMID:11941369, PMID:11941370, PMID:15689433, PMID:16720663, PMID:17594715, PMID:17850632, PMID:18038714, PMID:18154657, PMID:18414213, PMID:19763152, PMID:20307669, PMID:21157496, PMID:21877133, PMID:21897446, PMID:21901789, PMID:21943378, PMID:22406018, PMID:22447358, PMID:22555271, PMID:22773737, PMID:22876109, PMID:23847139, PMID:24033266, PMID:24049434, PMID:24400638, PMID:24462884, PMID:24595103, PMID:25296579, PMID:25468891, PMID:25533962, PMID:25706677, PMID:25741868, PMID:25846608, PMID:25999675, PMID:26010121, PMID:26047050, PMID:26104972, PMID:26111748, PMID:26239645, PMID:26283575, PMID:26467025, PMID:26636822, PMID:26992781, PMID:27178444, PMID:27665122, PMID:28402684, PMID:28432734, PMID:28492532, PMID:28502102, PMID:28717663, PMID:29079548, PMID:29345162, PMID:29610177, PMID:29715191, PMID:32581362, PMID:11941369, PMID:16720663, PMID:22876109, PMID:16000322, PMID:16513793 RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
JBrowse link
Angelman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318, PMID:18821858, PMID:22190369, PMID:23495136, PMID:24088041, PMID:25099823, PMID:25884337, PMID:26633545, PMID:28492532 NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19241098 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Angelman syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15878204, PMID:24088041, PMID:26633545 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:25741868, PMID:26633545 NCBI chr 1:112,158,525...112,812,267
Ensembl chr 1:112,158,519...112,811,936
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by OMIM:105830
ClinVar Annotator: match by term: Angelman syndrome
ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME
ClinVar PMID:1191367, PMID:8177735, PMID:10508514, PMID:10577905, PMID:10745042, PMID:10767337, PMID:10814718, PMID:10814719, PMID:10852707, PMID:10854091, PMID:10944834, PMID:10944854, PMID:10991688, PMID:10991689, PMID:11022934, PMID:11035019, PMID:11055878, PMID:11055898, PMID:11058114, PMID:11071498, PMID:11214906, PMID:11227330, PMID:11241840, PMID:11245712, PMID:11269512, PMID:11283202, PMID:11309679, PMID:11313756, PMID:11313764, PMID:11376998, PMID:11392517, PMID:11402105, PMID:11462237, PMID:11469283, PMID:11524741, PMID:11738860, PMID:11738864, PMID:11738866, PMID:11738879, PMID:11738883, PMID:11738885, PMID:11746022, PMID:11913567, PMID:11960578, PMID:12065946, PMID:12081725, PMID:12111643, PMID:12180070, PMID:12210319, PMID:12325033, PMID:12418965, PMID:12567420, PMID:12615169, PMID:12655490, PMID:12673788, PMID:12707946, PMID:12746406, PMID:12843318, PMID:12872250, PMID:12966523, PMID:14560307, PMID:14649554, PMID:15057977, PMID:15173251, PMID:15389714, PMID:15526954, PMID:15558314, PMID:15737703, PMID:15866439, PMID:16122633, PMID:16169931, PMID:16183801, PMID:16473305, PMID:16629931, PMID:16672765, PMID:16690727, PMID:16832102, PMID:16905679, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17276711, PMID:17341617, PMID:17351020, PMID:17387578, PMID:17881312, PMID:17986102, PMID:18174548, PMID:18174559, PMID:18332345, PMID:18337588, PMID:18414213, PMID:18499664, PMID:18562141, PMID:18989701, PMID:19133691, PMID:19189931, PMID:19217433, PMID:19309269, PMID:19309283, PMID:19371229, PMID:19442733, PMID:19552836, PMID:19573459, PMID:19652677, PMID:19722030, PMID:19914908, PMID:20031356, PMID:20093853, PMID:20116947, PMID:20231667, PMID:20301670, PMID:20631224, PMID:20661168, PMID:21154482, PMID:21160487, PMID:21372149, PMID:21420494, PMID:21831886, PMID:21954873, PMID:21982064, PMID:22277191, PMID:22368975, PMID:22476991, PMID:22525432, PMID:22561697, PMID:23238081, PMID:23260135, PMID:23262346, PMID:23270700, PMID:23421866, PMID:23770565, PMID:23770587, PMID:23810759, PMID:23921973, PMID:24399845, PMID:24458799, PMID:24511209, PMID:24916645, PMID:24970834, PMID:25167861, PMID:25741868, PMID:26175308, PMID:26418480, PMID:26467025, PMID:26647311, PMID:27354166, PMID:27929079, PMID:28492532, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mkrn3 makorin, ring finger protein, 3 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:123,062,049...123,064,763
Ensembl chr 1:123,062,863...123,064,642
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,346,005...114,371,907
Ensembl chr 1:114,348,038...114,371,897
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:24088041, PMID:26633545 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Rnf4 ring finger protein 4 ISO mRNA:increased expression:blood (human) RGD PMID:15014980 RGD:9831454 NCBI chr14:81,658,400...81,679,756
Ensembl chr14:81,660,354...81,679,082
JBrowse link
G Snrpn small nuclear ribonucleoprotein polypeptide N ISO
ISS
ClinVar Annotator: match by term: Angelman syndrome
OMIM:105830
ClinVar
MouseDO
PMID:12210318, PMID:18821858, PMID:22190369, PMID:23495136, PMID:24088041, PMID:25099823, PMID:25884337, PMID:26633545, PMID:28492532 NCBI chr 1:195,074,328...195,096,460
Ensembl chr 1:195,074,330...195,096,460
JBrowse link
G Snurf SNRPN upstream reading frame ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar PMID:12210318, PMID:18821858, PMID:22190369, PMID:23495136, PMID:24088041, PMID:25099823, PMID:25884337, PMID:26633545, PMID:28492532 NCBI chr 1:195,074,328...195,096,694
Ensembl chr 1:195,074,330...195,096,694
JBrowse link
G Tubgcp5 tubulin, gamma complex associated protein 5 ISO ClinVar Annotator: match by term: Angelman syndrome ClinVar NCBI chr 1:114,186,853...114,222,516
Ensembl chr 1:114,186,853...114,222,516
JBrowse link
G Ube3a ubiquitin protein ligase E3A treatment ISO ClinVar Annotator: match by term: Angelman syndrome
ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:105830
ClinVar
CTD
OMIM
PMID:2309781, PMID:8988171, PMID:8988172, PMID:9585605, PMID:9600250, PMID:9792887, PMID:9887341, PMID:11748306, PMID:12210318, PMID:12725589, PMID:15054837, PMID:15150776, PMID:15263005, PMID:15878204, PMID:16470747, PMID:17765640, PMID:17940072, PMID:18414213, PMID:18821858, PMID:19213023, PMID:20034088, PMID:21072004, PMID:22190369, PMID:22670133, PMID:23495136, PMID:24088041, PMID:24796722, PMID:24876791, PMID:25099823, PMID:25212744, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25884337, PMID:26068938, PMID:26219744, PMID:26255772, PMID:26467025, PMID:26633545, PMID:26993267, PMID:27620904, PMID:28281572, PMID:28492532, PMID:29188609, PMID:8988171, PMID:25470045, PMID:25866966 RGD:1358469, RGD:12859274, RGD:12859273 NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
ClinVar Annotator: match by OMIM:612132
OMIM
ClinVar
PMID:14523047, PMID:15337789, PMID:17931563, PMID:18412279, PMID:23708964, PMID:23864385, PMID:23870671, PMID:24033266, PMID:25741868, PMID:26888281, PMID:27577878, PMID:28417298, PMID:28492532, PMID:29948576 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8456838, PMID:9774969, PMID:10886756, PMID:11159940, PMID:11929852, PMID:15200513, PMID:16724007, PMID:18603493, PMID:18626511, PMID:19239083, PMID:19353588, PMID:19676059, PMID:19781362, PMID:19793345, PMID:20543567, PMID:21615690, PMID:27469932, PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome
ClinVar Annotator: match by OMIM:301835
OMIM
ClinVar
PMID:8498830, PMID:17701896, PMID:22246954, PMID:24033266, PMID:24528855, PMID:25741868, PMID:28492532 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
asphyxiating thoracic dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868, PMID:26092869 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Cep120 centrosomal protein 120 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:48,658,495...48,720,570
Ensembl chr18:48,658,495...48,720,472
JBrowse link
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:27466187 NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:25741868, PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD
ClinVar
PMID:19361615, PMID:19442771, PMID:21211617, PMID:22499340, PMID:23339108, PMID:23456818, PMID:24033266, PMID:24123776, PMID:24759409, PMID:25356970, PMID:25741868, PMID:25982780, PMID:26826164, PMID:26938784, PMID:27925158, PMID:28492532, PMID:28973083, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD
ClinVar
PMID:29068549 NCBI chr 6:144,069,077...144,124,975
Ensembl chr 6:144,069,022...144,123,729
JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD
ClinVar
PMID:19610081, PMID:24183451, PMID:29068549 NCBI chr 3:8,599,251...8,615,329
Ensembl chr 3:8,599,148...8,615,532
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD
ClinVar
PMID:29068549 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:71,593,302...71,601,662
Ensembl chr11:71,593,302...71,601,662
JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type ClinVar PMID:9066272, PMID:10700162, PMID:10700184, PMID:14217223, PMID:17024374, PMID:19810119, PMID:23220543, PMID:25741868, PMID:28492532, PMID:29068549 NCBI chr14:78,213,601...78,253,266
Ensembl chr14:78,213,635...78,253,266
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
ClinVar PMID:12571802, PMID:17024374, PMID:19251731, PMID:19810119, PMID:19876929, PMID:21199751, PMID:22190900, PMID:23026208, PMID:25741868, PMID:28492532, PMID:29068549 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Short ribs ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482
JBrowse link
G Fuz fuzzy planar cell polarity protein ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type ClinVar PMID:29068549 NCBI chr 1:100,891,832...100,896,811
Ensembl chr 1:100,891,866...100,896,807
JBrowse link
G Ift140 intraflagellar transport 140 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
CTD
ClinVar
PMID:22503633, PMID:23418020, PMID:24009529, PMID:25741868, PMID:26216056, PMID:28288023, PMID:28492532, PMID:28559085, PMID:28724397, PMID:29068549, PMID:29688594 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD
ClinVar
PMID:28492532, PMID:29068549 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar PMID:21378380, PMID:25741868, PMID:28400947, PMID:28492532, PMID:29068549 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
G Ift52 intraflagellar transport 52 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD
ClinVar
PMID:27466190, PMID:29068549 NCBI chr 3:159,388,868...159,413,358
Ensembl chr 3:159,392,193...159,413,575
JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type ClinVar PMID:29068549 NCBI chr 5:113,579,065...113,682,485
Ensembl chr 5:113,592,919...113,682,484
JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar PMID:17468754, PMID:19610081, PMID:19648123, PMID:21227999, PMID:23339108, PMID:25741868, PMID:28492532, PMID:29068549, PMID:30266093, PMID:30767363 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:25741868, PMID:27666822 NCBI chr12:39,420,161...39,507,412
Ensembl chr12:39,423,596...39,506,890
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar PMID:25741868, PMID:27158779, PMID:29068549 NCBI chr 2:127,589,325...127,611,705
Ensembl chr 2:127,459,012...127,525,437
JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:29068549 NCBI chr13:100,431,390...100,450,209 JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD
ClinVar
PMID:25741868 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar PMID:25741868 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by OMIM:263520
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human)
DNA:missense, frameshift, nonsense mutations:cds,splice junction:
ClinVar
CTD
PMID:21211617, PMID:22482978, PMID:22499340, PMID:23757202, PMID:24033266, PMID:25492405, PMID:25741868, PMID:26945885, PMID:28089114, PMID:28123176, PMID:28492532, PMID:28710492, PMID:29068549, PMID:21211617, PMID:22499340 RGD:11069733, RGD:11072153 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:25741868, PMID:29138412 NCBI chr10:58,726,721...58,776,718
Ensembl chr10:58,729,306...58,771,908
JBrowse link
G Sltm SAFB-like, transcription modulator ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy ClinVar PMID:27666822 NCBI chr 8:76,977,698...77,022,847
Ensembl chr 8:76,977,822...77,022,837
JBrowse link
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISS MouseDO NCBI chr 4:95,884,020...95,945,248
Ensembl chr 4:95,884,743...95,945,248
JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type ClinVar PMID:29068549 NCBI chr 9:98,621,499...98,658,223
Ensembl chr 9:98,621,506...98,656,901
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
CTD
ClinVar
PMID:18327258, PMID:18414213, PMID:21068128, PMID:21258341, PMID:22773737, PMID:23559409, PMID:24033266, PMID:24876116, PMID:25492405, PMID:25741868, PMID:26489029, PMID:26940125, PMID:27491411, PMID:28492532, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Jeune thoracic dystrophy
ClinVar Annotator: match by term: Jeune's syndrome
ClinVar PMID:22019273, PMID:23559409, PMID:23683095, PMID:25741868, PMID:26275793, PMID:27241786, PMID:28492532, PMID:28973083, PMID:29068549 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type
ClinVar Annotator: match by term: Jeune thoracic dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22486404, PMID:24033266, PMID:25741868, PMID:25914204, PMID:27158779, PMID:28332779, PMID:28400947, PMID:28492532, PMID:28870638, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771, PMID:23339108, PMID:23456818, PMID:25741868, PMID:28492532, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
JBrowse link
G Ift140 intraflagellar transport 140 ISS OMIM:208500 MouseDO NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258341 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:23559409, PMID:23683095, PMID:25741868, PMID:28492532, PMID:28973083, PMID:29068549 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404, PMID:24033266, PMID:25914204, PMID:28332779, PMID:28492532, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2
ClinVar Annotator: match by OMIM:611263
OMIM
ClinVar
PMID:17468754, PMID:19610081, PMID:19648123, PMID:25741868, PMID:28492532 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
JBrowse link
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III
ClinVar
OMIM
PMID:19361615, PMID:19442771, PMID:21211617, PMID:22499340, PMID:23339108, PMID:23456818, PMID:24033266, PMID:24123776, PMID:24759409, PMID:25326635, PMID:25741868, PMID:26826164, PMID:26938784, PMID:27925158, PMID:28492532, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III ClinVar PMID:29068549 NCBI chr 6:144,069,077...144,124,975
Ensembl chr 6:144,069,022...144,123,729
JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Short-rib polydactyly syndrome type III ClinVar PMID:29068549 NCBI chr 3:8,599,251...8,615,329
Ensembl chr 3:8,599,148...8,615,532
JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr11:71,593,302...71,601,662
Ensembl chr11:71,593,302...71,601,662
JBrowse link
G Fam98c family with sequence similarity 98, member C ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr 1:88,095,240...88,098,828
Ensembl chr 1:88,095,241...88,098,785
JBrowse link
G Ift80 intraflagellar transport 80 ISS OMIM:613091 MouseDO NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar PMID:21211617, PMID:25741868 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly ClinVar NCBI chr10:56,446,022...56,447,138
Ensembl chr10:56,445,647...56,447,138
JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4
ClinVar Annotator: match by OMIM:613819
OMIM
ClinVar
PMID:18414213, PMID:21258341, PMID:22773737, PMID:24033266, PMID:24876116, PMID:25492405, PMID:25741868, PMID:26940125, PMID:28492532, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5
ClinVar Annotator: match by OMIM:614376
OMIM
ClinVar
PMID:19430947, PMID:22019273, PMID:23559409, PMID:23683095, PMID:25726036, PMID:25741868, PMID:26260382, PMID:26275793, PMID:26489029, PMID:27241786, PMID:27596865, PMID:28492532, PMID:28621010, PMID:28973083, PMID:29068549, PMID:30266093, PMID:31837199 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: Louis-Bar syndrome
DNA:deletion:exon:
ClinVar Annotator: match by OMIM:208900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1953577, PMID:2491181, PMID:2557216, PMID:2798560, PMID:3338800, PMID:6504056, PMID:7792600, PMID:7836845, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8789452, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:8958160, PMID:8968760, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9121450, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9450906, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9600235, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:9892178, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10607471, PMID:10677309, PMID:10706620, PMID:10738255, PMID:10767628, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11173867, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11507241, PMID:11507245, PMID:11516106, PMID:11526498, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11821961, PMID:11826028, PMID:11830610, PMID:11839094, PMID:11849780, PMID:11857346, PMID:11889466, PMID:11897820, PMID:11897822, PMID:11996792, PMID:12072877, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12362033, PMID:12473176, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12637545, PMID:12646636, PMID:12655570, PMID:12673794, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12935933, PMID:12969974, PMID:14562025, PMID:14586414, PMID:14634505, PMID:14643952, PMID:14654357, PMID:14695186, PMID:14695534, PMID:14695997, PMID:14735203, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15042666, PMID:15054841, PMID:15101044, PMID:15159313, PMID:15164409, PMID:15174027, PMID:15177039, PMID:15196260, PMID:15217508, PMID:15279807, PMID:15279808, PMID:15280931, PMID:15390180, PMID:15450731, PMID:15498871, PMID:15629612, PMID:15643608, PMID:15696190, PMID:15713674, PMID:15756685, PMID:15824023, PMID:15824150, PMID:15843990, PMID:15880680, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16035317, PMID:16112413, PMID:16140923, PMID:16167060, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16574953, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16741161, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:16998505, PMID:17001622, PMID:17023046, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17187232, PMID:17203191, PMID:17298726, PMID:17333338, PMID:17341484, PMID:17344846, PMID:17351744, PMID:17376192, PMID:17393301, PMID:17490827, PMID:17517479, PMID:17535973, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17699107, PMID:17876757, PMID:17910737, PMID:17968022, PMID:17985259, PMID:18066086, PMID:18164969, PMID:18174244, PMID:18261794, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18433505, PMID:18497957, PMID:18502988, PMID:18504682, PMID:18560558, PMID:18565893, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18701470, PMID:18807267, PMID:18813293, PMID:18846412, PMID:19018867, PMID:19147735, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19638463, PMID:19683821, PMID:19691550, PMID:19705055, PMID:19763152, PMID:19770270, PMID:19773425, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20124459, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20308662, PMID:20346647, PMID:20480175, PMID:20544271, PMID:20678261, PMID:20717907, PMID:20826828, PMID:20840352, PMID:20927582, PMID:20945614, PMID:20966255, PMID:20981092, PMID:21150274, PMID:21164480, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21447618, PMID:21459046, PMID:21514219, PMID:21520333, PMID:21593342, PMID:21665257, PMID:21681852, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21910157, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22130802, PMID:22146522, PMID:22200977, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22438227, PMID:22527104, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22763152, PMID:22869595, PMID:22895193, PMID:22927201, PMID:22927308, PMID:22952040, PMID:22995991, PMID:23074045, PMID:23075580, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23360865, PMID:23369113, PMID:23376243, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23561644, PMID:23566627, PMID:23585368, PMID:23585524, PMID:23612382, PMID:23632773, PMID:23640770, PMID:23652012, PMID:23667852, PMID:23671275, PMID:23726790, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:23960188, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24113346, PMID:24120321, PMID:24142997, PMID:24172824, PMID:24197801, PMID:24201163, PMID:24204193, PMID:24325359, PMID:24326041, PMID:24356096, PMID:24368146, PMID:24405665, PMID:24416720, PMID:24422204, PMID:24448499, PMID:24451234, PMID:24512911, PMID:24549055, PMID:24556621, PMID:24568663, PMID:24628946, PMID:24643969, PMID:24682267, PMID:24695838, PMID:24728327, PMID:24733792, PMID:24763289, PMID:24789685, PMID:24825865, PMID:24831771, PMID:24886963, PMID:24935205, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25101980, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25159481, PMID:25182519, PMID:25186627, PMID:25231023, PMID:25232094, PMID:25257301, PMID:25275298, PMID:25303977, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25356970, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25749350, PMID:25793145, PMID:25862857, PMID:25877891, PMID:25882375, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26010451, PMID:26022348, PMID:26023681, PMID:26053404, PMID:26085511, PMID:26094658, PMID:26098866, PMID:26112015, PMID:26123645, PMID:26155992, PMID:26164066, PMID:26182300, PMID:26206375, PMID:26207792, PMID:26214590, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26250988, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26320869, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26635394, PMID:26662178, PMID:26667234, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26757417, PMID:26771497, PMID:26778106, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26846839, PMID:26878173, PMID:26898890, PMID:26901136, PMID:26911350, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27016235, PMID:27034805, PMID:27039262, PMID:27064202, PMID:27067391, PMID:27083775, PMID:27093186, PMID:27121310, PMID:27146902, PMID:27149842, PMID:27150160, PMID:27153395, PMID:27159176, PMID:27276934, PMID:27304073, PMID:27413114, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27460089, PMID:27479817, PMID:27484032, PMID:27498913, PMID:27528516, PMID:27553368, PMID:27581129, PMID:27595995, PMID:27599564, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27671921, PMID:27720647, PMID:27732944, PMID:27779110, PMID:27782108, PMID:27798748, PMID:27803004, PMID:27844328, PMID:27854218, PMID:27871447, PMID:27873105, PMID:27878467, PMID:27884168, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27980538, PMID:27988859, PMID:27989354, PMID:27997549, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28076423, PMID:28093192, PMID:28093616, PMID:28126470, PMID:28135048, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28182994, PMID:28188106, PMID:28195393, PMID:28202063, PMID:28211887, PMID:28281021, PMID:28282032, PMID:28338653, PMID:28423363, PMID:28440963, PMID:28486781, PMID:28492530, PMID:28492532, PMID:28497333, PMID:28503720, PMID:28528518, PMID:28569218, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28640387, PMID:28652578, PMID:28657667, PMID:28687356, PMID:28687971, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28830922, PMID:28843361, PMID:28849312, PMID:28873162, PMID:28875981, PMID:28878254, PMID:28894253, PMID:28956312, PMID:28975018, PMID:28975465, PMID:29036293, PMID:29059438, PMID:29101607, PMID:29141312, PMID:29271107, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29423082, PMID:29449433, PMID:29458332, PMID:29470806, PMID:29478780, PMID:29482223, PMID:29486991, PMID:29487225, PMID:29506079, PMID:29506128, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29641532, PMID:29642553, PMID:29659569, PMID:29664460, PMID:29665859, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29778231, PMID:29785153, PMID:29789584, PMID:29866652, PMID:29888287, PMID:29909963, PMID:29915322, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30093976, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30233647, PMID:30256826, PMID:30262796, PMID:30287823, PMID:30303537, PMID:30306255, PMID:30309722, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30389154, PMID:30402232, PMID:30426508, PMID:30447919, PMID:30482293, PMID:30504431, PMID:30537493, PMID:30549301, PMID:30553997, PMID:30584090, PMID:30607632, PMID:30620386, PMID:30651582, PMID:30666157, PMID:30713859, PMID:30713931, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30883245, PMID:30927251, PMID:30938815, PMID:30982232, PMID:30995915, PMID:31050087, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31227566, PMID:31263571, PMID:31360874, PMID:31428572, PMID:31666926, PMID:31742824, PMID:31815095, PMID:31843900, PMID:31867841, PMID:31919090, PMID:32183364, PMID:32566746, PMID:197781682, PMID:28007901, PMID:19626507 RGD:12879399, RGD:10053611 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:124,390,924...124,410,449
Ensembl chr 7:124,391,432...124,410,447
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704, PMID:22466704, PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,120,179...58,158,052
Ensembl chr 8:58,120,179...58,158,052
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia Telangiectasia
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C
ClinVar PMID:2557216, PMID:3338800, PMID:6504056, PMID:7792600, PMID:8659541, PMID:8665503, PMID:8698354, PMID:8755918, PMID:8797579, PMID:8808599, PMID:8845835, PMID:8923007, PMID:9000145, PMID:9043869, PMID:9054948, PMID:9150358, PMID:9244351, PMID:9288106, PMID:9334731, PMID:9443866, PMID:9450874, PMID:9463314, PMID:9488043, PMID:9497252, PMID:9622061, PMID:9682216, PMID:9711876, PMID:9733514, PMID:9764584, PMID:9792409, PMID:9792410, PMID:9872980, PMID:9887333, PMID:10023947, PMID:10234507, PMID:10330348, PMID:10397742, PMID:10416970, PMID:10425038, PMID:10464642, PMID:10534763, PMID:10706620, PMID:10738255, PMID:10817650, PMID:10864201, PMID:10873394, PMID:10980530, PMID:11054065, PMID:11298136, PMID:11382771, PMID:11443540, PMID:11468183, PMID:11505391, PMID:11606401, PMID:11746755, PMID:11756177, PMID:11756185, PMID:11805335, PMID:11826028, PMID:11830610, PMID:11849780, PMID:11857346, PMID:11897822, PMID:12091354, PMID:12149228, PMID:12195425, PMID:12473594, PMID:12497634, PMID:12511424, PMID:12552559, PMID:12552566, PMID:12646636, PMID:12655570, PMID:12673797, PMID:12673804, PMID:12697903, PMID:12745884, PMID:12810666, PMID:12815592, PMID:12882767, PMID:12883528, PMID:12917204, PMID:12935922, PMID:12969974, PMID:14586414, PMID:14654357, PMID:14754616, PMID:14970866, PMID:15039971, PMID:15101044, PMID:15159313, PMID:15174027, PMID:15279808, PMID:15390180, PMID:15696190, PMID:15756685, PMID:15843990, PMID:15880721, PMID:15928302, PMID:16014569, PMID:16140923, PMID:16189143, PMID:16238588, PMID:16266405, PMID:16380133, PMID:16387360, PMID:16411093, PMID:16461462, PMID:16603769, PMID:16631465, PMID:16652348, PMID:16832357, PMID:16864838, PMID:16914028, PMID:16941484, PMID:16958054, PMID:17001622, PMID:17124347, PMID:17132159, PMID:17166884, PMID:17298726, PMID:17333338, PMID:17344846, PMID:17376192, PMID:17393301, PMID:17517479, PMID:17540590, PMID:17623063, PMID:17640065, PMID:17910737, PMID:17968022, PMID:18066086, PMID:18321536, PMID:18384426, PMID:18414213, PMID:18431795, PMID:18497957, PMID:18504682, PMID:18560558, PMID:18573109, PMID:18575927, PMID:18634022, PMID:18807267, PMID:18813293, PMID:19018867, PMID:19347964, PMID:19404735, PMID:19431188, PMID:19440741, PMID:19535770, PMID:19605768, PMID:19691550, PMID:19763152, PMID:19781682, PMID:19823873, PMID:20077034, PMID:20153123, PMID:20232390, PMID:20301790, PMID:20305132, PMID:20307669, PMID:20346647, PMID:20480175, PMID:20840352, PMID:20945614, PMID:20966255, PMID:21150274, PMID:21346221, PMID:21354641, PMID:21445571, PMID:21459046, PMID:21665257, PMID:21778326, PMID:21787400, PMID:21792198, PMID:21833744, PMID:21933854, PMID:21965147, PMID:21993670, PMID:22006793, PMID:22017321, PMID:22071889, PMID:22146522, PMID:22213089, PMID:22250480, PMID:22345219, PMID:22369572, PMID:22406018, PMID:22420423, PMID:22529920, PMID:22585167, PMID:22585170, PMID:22649200, PMID:22674506, PMID:22869595, PMID:22895193, PMID:22952040, PMID:22995991, PMID:23091097, PMID:23142947, PMID:23143971, PMID:23264026, PMID:23322442, PMID:23454770, PMID:23532176, PMID:23555315, PMID:23585368, PMID:23585524, PMID:23632773, PMID:23640770, PMID:23667852, PMID:23671275, PMID:23761041, PMID:23774824, PMID:23807571, PMID:23836671, PMID:23946315, PMID:24033266, PMID:24088041, PMID:24090759, PMID:24172824, PMID:24326041, PMID:24416720, PMID:24448499, PMID:24451234, PMID:24556621, PMID:24628946, PMID:24643969, PMID:24728327, PMID:24733792, PMID:24789685, PMID:24951259, PMID:25032865, PMID:25037873, PMID:25040471, PMID:25042771, PMID:25058500, PMID:25077176, PMID:25117502, PMID:25122203, PMID:25133958, PMID:25148578, PMID:25151137, PMID:25182519, PMID:25186627, PMID:25232094, PMID:25318351, PMID:25320358, PMID:25326635, PMID:25330149, PMID:25374739, PMID:25428789, PMID:25452441, PMID:25460276, PMID:25479140, PMID:25480502, PMID:25502423, PMID:25503501, PMID:25523272, PMID:25525159, PMID:25587027, PMID:25589003, PMID:25614872, PMID:25625042, PMID:25741868, PMID:25793145, PMID:25877891, PMID:25914063, PMID:25925381, PMID:25925954, PMID:25938944, PMID:25957637, PMID:25980754, PMID:26009992, PMID:26022348, PMID:26053404, PMID:26094658, PMID:26182300, PMID:26206375, PMID:26220245, PMID:26246601, PMID:26247737, PMID:26270727, PMID:26296696, PMID:26296701, PMID:26344566, PMID:26380989, PMID:26439923, PMID:26467025, PMID:26483394, PMID:26506520, PMID:26530882, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26628246, PMID:26633542, PMID:26633545, PMID:26662178, PMID:26677768, PMID:26681312, PMID:26689913, PMID:26692440, PMID:26693373, PMID:26787654, PMID:26822949, PMID:26824983, PMID:26837699, PMID:26845104, PMID:26898890, PMID:26901136, PMID:26915675, PMID:26917275, PMID:26976419, PMID:27083775, PMID:27121310, PMID:27153395, PMID:27159176, PMID:27304073, PMID:27433846, PMID:27443514, PMID:27449771, PMID:27479817, PMID:27498913, PMID:27528516, PMID:27581129, PMID:27595995, PMID:27602502, PMID:27616075, PMID:27621404, PMID:27664052, PMID:27720647, PMID:27732944, PMID:27798748, PMID:27873105, PMID:27878467, PMID:27913932, PMID:27932211, PMID:27959900, PMID:27978560, PMID:27988859, PMID:28007021, PMID:28008555, PMID:28051113, PMID:28093192, PMID:28093616, PMID:28135145, PMID:28152038, PMID:28170084, PMID:28188106, PMID:28195393, PMID:28338653, PMID:28423363, PMID:28486781, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28591191, PMID:28608266, PMID:28652578, PMID:28687356, PMID:28716242, PMID:28717660, PMID:28724667, PMID:28726808, PMID:28767289, PMID:28779002, PMID:28825054, PMID:28828701, PMID:28843361, PMID:28873162, PMID:28875981, PMID:28975465, PMID:29036293, PMID:29141312, PMID:29335925, PMID:29360161, PMID:29368341, PMID:29371908, PMID:29415044, PMID:29470806, PMID:29478780, PMID:29522266, PMID:29555771, PMID:29566657, PMID:29596542, PMID:29600275, PMID:29664460, PMID:29667044, PMID:29678143, PMID:29684080, PMID:29719442, PMID:29752822, PMID:29753700, PMID:29888287, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29946849, PMID:29954938, PMID:30067863, PMID:30086788, PMID:30128536, PMID:30197789, PMID:30214756, PMID:30256826, PMID:30287823, PMID:30303537, PMID:30311386, PMID:30363071, PMID:30374176, PMID:30426508, PMID:30447919, PMID:30504431, PMID:30549301, PMID:30607632, PMID:30620386, PMID:30723761, PMID:30730459, PMID:30814645, PMID:30819809, PMID:30927251, PMID:31054420, PMID:31118792, PMID:31125277, PMID:31139954, PMID:31159747, PMID:31160347, PMID:31843900, PMID:31919090, PMID:32183364, PMID:32566746 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:16858402, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23755103, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24093751, PMID:24549055, PMID:24556621, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26057807, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26757417, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27153395, PMID:27329137, PMID:27433846, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28524162, PMID:28559769, PMID:28849312, PMID:28873162, PMID:29170652, PMID:29348823, PMID:29371908, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by OMIM:615217 OMIM
ClinVar
PMID:22065524 NCBI chr10:55,013,686...55,078,986
Ensembl chr10:55,013,703...55,080,421
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15054841, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19535770, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25525159, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301, PMID:30819809 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918, PMID:8808599, PMID:9000145, PMID:9288106, PMID:9463314, PMID:9792410, PMID:9887333, PMID:10234507, PMID:10330348, PMID:11382771, PMID:11826028, PMID:11830610, PMID:14654357, PMID:15174027, PMID:16958054, PMID:17001622, PMID:18575927, PMID:18634022, PMID:19431188, PMID:19781682, PMID:19823873, PMID:21787400, PMID:21792198, PMID:22345219, PMID:22529920, PMID:23143971, PMID:24088041, PMID:24733792, PMID:25037873, PMID:25040471, PMID:25077176, PMID:25186627, PMID:25741868, PMID:25914063, PMID:25980754, PMID:26506520, PMID:26633545, PMID:26681312, PMID:27528516, PMID:27595995, PMID:27798748, PMID:27978560, PMID:27988859, PMID:28008555, PMID:28492532, PMID:28779002, PMID:29719442, PMID:30504431, PMID:30549301 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1
ClinVar Annotator: match by OMIM:604391
OMIM
ClinVar
PMID:8445618, PMID:8684395, PMID:9845372, PMID:10612394, PMID:11196167, PMID:11238951, PMID:11371508, PMID:12966088, PMID:14684699, PMID:14690604, PMID:15269180, PMID:15574463, PMID:16858402, PMID:18652530, PMID:18854157, PMID:19383352, PMID:20052722, PMID:20805886, PMID:21227757, PMID:21252998, PMID:21324166, PMID:22006311, PMID:22078559, PMID:22139912, PMID:22705791, PMID:22863007, PMID:23080121, PMID:23436002, PMID:23718828, PMID:23912341, PMID:24030952, PMID:24033266, PMID:24332946, PMID:24549055, PMID:24733832, PMID:24763289, PMID:24894818, PMID:25040471, PMID:25326635, PMID:25452441, PMID:25503501, PMID:25741868, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26633542, PMID:26680607, PMID:26786923, PMID:26787654, PMID:26845104, PMID:26898890, PMID:27124789, PMID:27153395, PMID:27329137, PMID:27621404, PMID:27783279, PMID:27878467, PMID:28051113, PMID:28125075, PMID:28152038, PMID:28202063, PMID:28486781, PMID:28492532, PMID:28559769, PMID:28849312, PMID:29170652, PMID:29348823, PMID:29752822, PMID:29922827, PMID:30441849, PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610, PMID:1324223, PMID:8990002, PMID:9950360, PMID:11317365, PMID:20223039, PMID:20685668, PMID:25741868, PMID:28492532, PMID:28944238 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated ClinVar PMID:19617566, PMID:20551049, PMID:22461326, PMID:24038392, PMID:26845104, PMID:28492532, PMID:29095867, PMID:29596542 NCBI chr 5:62,718,733...62,751,345
Ensembl chr 5:62,718,787...62,750,145
JBrowse link
autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 22
ClinVar Annotator: match by OMIM:612337
OMIM
ClinVar
PMID:9568537, PMID:9756912, PMID:10567577, PMID:11179890, PMID:11350943, PMID:11854316, PMID:14681759, PMID:17447250, PMID:17668379, PMID:19409883, PMID:20059953, PMID:20382278, PMID:20672375, PMID:21800092, PMID:21934713, PMID:22095278, PMID:22234186, PMID:22513377, PMID:22678713, PMID:23020937, PMID:23494996, PMID:24193349, PMID:24614070, PMID:25131622, PMID:25741868, PMID:26740508, PMID:27598823, PMID:28283832, PMID:29573576 NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Fam13a family with sequence similarity 13, member A ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,183,180...89,281,282
Ensembl chr 4:89,183,768...89,281,222
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Ganab glucosidase II alpha subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD
ClinVar
NCBI chr 1:225,096,558...225,116,384
Ensembl chr 1:225,096,598...225,116,378
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,690,678...89,778,302
Ensembl chr 4:89,693,280...89,695,928
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,078,670...89,169,150
Ensembl chr 4:89,078,711...89,169,146
JBrowse link
G Herc6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,606,851...88,649,424
Ensembl chr 4:88,607,518...88,649,216
JBrowse link
G Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,054,724...7,104,567
Ensembl chr14:7,073,445...7,104,566
JBrowse link
G Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,113,544...7,128,218
Ensembl chr14:7,113,544...7,128,218
JBrowse link
G Ibsp integrin-binding sialoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,801,200...6,813,987
Ensembl chr14:6,801,204...6,813,945
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
JBrowse link
G Klhl8 kelch-like family member 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,169,517...7,215,025
Ensembl chr14:7,169,519...7,215,025
JBrowse link
G Lrp2 LDL receptor related protein 2 IEP RGD PMID:11841627 RGD:1641842 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility IAGP DNA:missense mutation:cds:multiple mutations (human) RGD PMID:25920554 RGD:11553546 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,782,011...6,793,561
Ensembl chr14:6,782,012...6,793,558
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:25877301, PMID:18356167 RGD:7207457 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nap1l5 nucleosome assembly protein 1-like 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,149,314...89,152,511
Ensembl chr 4:89,149,317...89,151,184
JBrowse link
G Nphp3 nephrocystin 3 ISS MouseDO NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:7,036,809...7,054,739
Ensembl chr14:7,036,820...7,054,548
JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:exons, intron:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R3277C (mouse)
DNA:mutations:multiple
ClinVar
CTD
PMID:7581371, PMID:8004675, PMID:9521593, PMID:10200984, PMID:10364515, PMID:10854095, PMID:10987650, PMID:11058904, PMID:11115377, PMID:11216660, PMID:11558899, PMID:11571556, PMID:11691639, PMID:11840199, PMID:11857740, PMID:11967008, PMID:12007219, PMID:12070253, PMID:12089381, PMID:12482949, PMID:12842373, PMID:15772804, PMID:16430766, PMID:17574468, PMID:17582161, PMID:18077784, PMID:18640754, PMID:18837007, PMID:19165178, PMID:19401297, PMID:19686598, PMID:20558538, PMID:20981092, PMID:21115670, PMID:22008521, PMID:22090377, PMID:22185115, PMID:22333914, PMID:22383692, PMID:22508176, PMID:22608885, PMID:23064367, PMID:23300259, PMID:23431072, PMID:23760289, PMID:24033266, PMID:24374109, PMID:24694054, PMID:25333066, PMID:25646624, PMID:25741868, PMID:25877301, PMID:26139440, PMID:26453610, PMID:26467025, PMID:26632257, PMID:26661679, PMID:27499327, PMID:27567292, PMID:27884173, PMID:27894351, PMID:28887310, PMID:30333007, PMID:8554072, PMID:23064367, PMID:21115670 RGD:1601399, RGD:7175280, RGD:7175279 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8650545, PMID:9573526, PMID:9856513, PMID:9856528, PMID:10411676, PMID:10497221, PMID:10541293, PMID:10760080, PMID:11007674, PMID:11095651, PMID:11967008, PMID:11968093, PMID:12089381, PMID:12707387, PMID:12842373, PMID:14993477, PMID:15001556, PMID:15192819, PMID:15772804, PMID:15775720, PMID:16223735, PMID:16430766, PMID:16540757, PMID:17100995, PMID:17429049, PMID:17574468, PMID:17582161, PMID:18257781, PMID:18664456, PMID:18837007, PMID:19491093, PMID:19556541, PMID:20168298, PMID:20881056, PMID:20950398, PMID:21551026, PMID:22008521, PMID:22034641, PMID:22185115, PMID:22383692, PMID:22508176, PMID:22863349, PMID:22995991, PMID:23300259, PMID:23376035, PMID:24374109, PMID:24611717, PMID:24658975, PMID:24719335, PMID:24925719, PMID:25333066, PMID:25574838, PMID:25741868, PMID:25877301, PMID:26275819, PMID:26364947, PMID:26467025, PMID:26632257, PMID:26692149, PMID:27401137, PMID:27499327, PMID:27567292, PMID:27782177, PMID:27884173, PMID:27894351, PMID:28356211, PMID:28492532, PMID:28887310, PMID:29529603, PMID:30333007, PMID:30820006, PMID:30883612, PMID:22863349, PMID:21115670 RGD:7175273, RGD:7175279 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant
ClinVar PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:21274727, PMID:25124979, PMID:25741868, PMID:26695994, PMID:27225849, PMID:28375157, PMID:28492532, PMID:30311386 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,694,395...88,721,374
Ensembl chr 4:88,694,583...88,718,533
JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:88,584,242...88,587,877
Ensembl chr 4:88,584,242...88,587,877
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr10:13,894,271...13,898,578
Ensembl chr10:13,893,290...13,898,855
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc34a1 solute carrier family 34 member 1 disease_progression IEP mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr14:6,994,261...7,025,309
Ensembl chr14:6,994,190...7,025,308
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO
ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868, PMID:20926632 RGD:5131995 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, autosomal dominant ClinVar PMID:25741868 NCBI chr 4:89,535,418...89,538,535
Ensembl chr 4:89,536,647...89,538,227
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IMP
IEP
mRNA:increased expression:kidney (rat) RGD PMID:20229187, PMID:20798958 RGD:2325220, RGD:12879406 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Aqp1 aquaporin 1 IEP
ISO
mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:18,780,605...18,940,429
Ensembl chr20:18,780,605...18,940,408
JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140, PMID:17960140 RGD:7175542, RGD:7175542 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320, PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cdc25a cell division cycle 25A treatment IEP
IMP
ISO
protein:increased expression:cholangiocyte: RGD PMID:22155366, PMID:22155366, PMID:22155366, PMID:22155366 RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 NCBI chr 8:117,953,223...117,971,552
Ensembl chr 8:117,953,444...117,971,519
JBrowse link
G Cftr CF transmembrane conductance regulator IEP
ISO
mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,492,734...134,507,158
Ensembl chr 5:134,492,756...134,507,154
JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,196,910...134,207,888
Ensembl chr 5:134,196,912...134,207,863
JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,468,666...134,484,851
Ensembl chr 5:134,469,270...134,484,839
JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:133,978,953...134,008,255
Ensembl chr 5:133,978,954...134,008,255
JBrowse link
G Cys1 cystin 1 ISO
ISS
OMIM:263200 MouseDO PMID:11854326 RGD:7175541 NCBI chr 6:43,844,937...43,862,131
Ensembl chr 6:43,844,937...43,862,131
JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28530676 NCBI chr 8:107,875,659...107,916,298
Ensembl chr 8:107,875,991...107,916,294
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:81,555,914...81,560,931
Ensembl chr 9:81,559,605...81,560,594
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8191288, PMID:8608416 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:13,567,185...13,606,040
Ensembl chr 8:13,566,739...13,606,040
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha IEP protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO
ISS
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200
ClinVar
MouseDO
PMID:10729710, PMID:11115377, PMID:11967008, PMID:17574468, PMID:17582161, PMID:19515475, PMID:21551026, PMID:22031115, PMID:22508176, PMID:24374109, PMID:25333066, PMID:25741868, PMID:26453610, PMID:26467025, PMID:26632257, PMID:29100090 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:12707387, PMID:25741868, PMID:28492532, PMID:29529603, PMID:30333007 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity
ISO
IEP
IAGP
DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
DNA:missense mutations:cds:
DNA:deletion:exon:
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE
ClinVar Annotator: match by OMIM:263200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
protein:decreased expression:kidney
DNA:splice site mutation:intron:IVS35-2A>T
ClinVar
CTD
PMID:1189128, PMID:11898128, PMID:11919560, PMID:12506140, PMID:12846734, PMID:12874454, PMID:12925574, PMID:14741187, PMID:14971004, PMID:15108277, PMID:15108281, PMID:15696446, PMID:15698423, PMID:15706593, PMID:15805161, PMID:16133180, PMID:16199545, PMID:16523049, PMID:16632497, PMID:16876319, PMID:18414213, PMID:18503009, PMID:18988797, PMID:19021639, PMID:19176689, PMID:19524688, PMID:19914852, PMID:19940839, PMID:19940939, PMID:20413436, PMID:20460933, PMID:20575693, PMID:21046169, PMID:21228398, PMID:21274727, PMID:21493627, PMID:21685914, PMID:21790888, PMID:21896375, PMID:21945273, PMID:22034641, PMID:22995991, PMID:23041322, PMID:23265383, PMID:23389334, PMID:23582048, PMID:23757202, PMID:24033266, PMID:24121792, PMID:24162162, PMID:24336431, PMID:24710345, PMID:24984783, PMID:25114813, PMID:25124979, PMID:25153916, PMID:25193386, PMID:25326637, PMID:25525159, PMID:25646624, PMID:25701400, PMID:25741868, PMID:25771912, PMID:25966130, PMID:26139440, PMID:26385851, PMID:26489027, PMID:26489029, PMID:26633542, PMID:26673778, PMID:26695994, PMID:26721323, PMID:27151922, PMID:27225849, PMID:27491411, PMID:27577217, PMID:27595491, PMID:27752906, PMID:27894351, PMID:28170084, PMID:28375157, PMID:28492532, PMID:28518170, PMID:28555180, PMID:28578020, PMID:28851938, PMID:28862642, PMID:29520754, PMID:29643536, PMID:29801666, PMID:29956005, PMID:30311386, PMID:30507656, PMID:30510609, PMID:30566001, PMID:30650191, PMID:32576985, PMID:11919560, PMID:12874454, PMID:17519956, PMID:14983006, PMID:11919560 RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease IAGP RGD PMID:11919560 RGD:70439
G Sclt1 sodium channel and clathrin linker 1 ISS OMIM:263200 MouseDO NCBI chr 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408
JBrowse link
G Slc4a2 solute carrier family 4 member 2 IEP
ISO
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism
CTD PMID:18988797, PMID:18988797 RGD:2307071 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
G Tsc1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:241850
ClinVar Annotator: match by synonym: Hypothyroidism, thyroidal, with spiky hair and cleft palate
OMIM
ClinVar
CTD
PMID:2918525, PMID:9697705, PMID:12165566, PMID:16882747, PMID:16884476, PMID:21177256, PMID:25381600, PMID:25741868, PMID:28492532 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISS
ISO
OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome
MouseDO
ClinVar
PMID:10411937, PMID:12325076, PMID:16685646, PMID:22366783, PMID:22495914, PMID:23649928, PMID:23756437, PMID:25052316, PMID:25156961, PMID:25741868, PMID:27240540, PMID:27868373, PMID:28492532 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310
OMIM
ClinVar
PMID:1415343, PMID:10327243, PMID:10411937, PMID:10928857, PMID:11311002, PMID:12325076, PMID:16685646, PMID:18414213, PMID:22366783, PMID:22495914, PMID:23649928, PMID:23756437, PMID:24033266, PMID:25052316, PMID:25156961, PMID:25741868, PMID:26467025, PMID:27240540, PMID:27868373, PMID:28492532, PMID:29220674, PMID:29261186 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583
OMIM
ClinVar
PMID:3351890, PMID:18414213, PMID:22366783, PMID:24033266, PMID:25052316, PMID:25741868 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
Bardet-Biedl syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Arl6 ADP-ribosylation factor like GTPase 6 ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar Annotator: match by OMIM:209900
ClinVar PMID:7987310, PMID:8298649, PMID:15258860, PMID:25741868, PMID:15314642 RGD:1578724 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:4269389, PMID:10399877, PMID:11822024, PMID:15786463, PMID:15886712, PMID:16606853, PMID:17994549, PMID:19303295, PMID:19349376, PMID:21775502, PMID:22025579, PMID:22981120, PMID:23142638, PMID:23541687, PMID:24033266, PMID:25351777, PMID:25741868, PMID:26467025, PMID:27491411, PMID:28492532, PMID:30311386, PMID:30823891 NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
ClinVar Annotator: match by OMIM:209900
ClinVar PMID:10564830, PMID:12118255, PMID:12524598, PMID:12567324, PMID:12677556, PMID:12837689, PMID:12920096, PMID:15314642, PMID:15770229, PMID:16327777, PMID:17003356, PMID:17980398, PMID:18032602, PMID:18327255, PMID:18669544, PMID:18766993, PMID:20177705, PMID:20498079, PMID:20876674, PMID:21052717, PMID:21344540, PMID:21517826, PMID:21642631, PMID:22410627, PMID:22581970, PMID:22773737, PMID:22940089, PMID:23143442, PMID:23432027, PMID:23559858, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:24611592, PMID:24746959, PMID:25074776, PMID:25170860, PMID:25326635, PMID:25741868, PMID:25780760, PMID:26467025, PMID:26518167, PMID:26872967, PMID:27032803, PMID:27434533, PMID:27486776, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29099798, PMID:29264490, PMID:29588463, PMID:30311386, PMID:30614526, PMID:30718709, PMID:12524598 RGD:1579969 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:5982971, PMID:10874630, PMID:11179009, PMID:11567139, PMID:16582908, PMID:16823392, PMID:17106446, PMID:17980398, PMID:19190184, PMID:19797195, PMID:20080638, PMID:20120035, PMID:20177705, PMID:20472660, PMID:20498079, PMID:20805367, PMID:20876674, PMID:21044901, PMID:21052717, PMID:21157496, PMID:21209035, PMID:21344540, PMID:21517826, PMID:21642631, PMID:22353939, PMID:22410627, PMID:22713813, PMID:22773737, PMID:22958920, PMID:22995991, PMID:23591405, PMID:24033266, PMID:24041679, PMID:24400638, PMID:24488770, PMID:24611592, PMID:24746959, PMID:25133751, PMID:25326635, PMID:25366773, PMID:25412400, PMID:25741868, PMID:25982971, PMID:26003401, PMID:26467025, PMID:27032803, PMID:27245532, PMID:27385962, PMID:27449316, PMID:27486776, PMID:27533158, PMID:27659767, PMID:27788217, PMID:27959697, PMID:28041643, PMID:28143435, PMID:28492532, PMID:28808579, PMID:29806606, PMID:30311386, PMID:30614526, PMID:30718709, PMID:31639430, PMID:32361989, PMID:24746959 RGD:11352646 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:17160889, PMID:20080638, PMID:20120035, PMID:20472660, PMID:20498079, PMID:20827784, PMID:21209035, PMID:21344540, PMID:21642631, PMID:22025579, PMID:22410627, PMID:22773737, PMID:23591405, PMID:24611592, PMID:25133751, PMID:25741868, PMID:25780760, PMID:25982971, PMID:27004616, PMID:27659767, PMID:27708425, PMID:28492532, PMID:28912962, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
DNA:missense, deletion, nonsense mutations:cds:
ClinVar PMID:8298649, PMID:11285252, PMID:11567139, PMID:11886943, PMID:12524598, PMID:12837689, PMID:12920096, PMID:14520415, PMID:15666242, PMID:16877420, PMID:16909204, PMID:17574030, PMID:19402160, PMID:19797195, PMID:20120035, PMID:20177705, PMID:20498079, PMID:21052717, PMID:21157496, PMID:21344540, PMID:21463199, PMID:21642631, PMID:22025579, PMID:22401627, PMID:22410627, PMID:22713813, PMID:22773737, PMID:23432027, PMID:23829372, PMID:24033266, PMID:24349080, PMID:24608809, PMID:24793135, PMID:25133751, PMID:25412400, PMID:25525159, PMID:25533962, PMID:25541840, PMID:25611614, PMID:25741868, PMID:25988237, PMID:25999675, PMID:26078953, PMID:26325687, PMID:26355662, PMID:26467025, PMID:27032803, PMID:27659767, PMID:27708425, PMID:27894351, PMID:28143435, PMID:28387813, PMID:28418496, PMID:28492532, PMID:28559085, PMID:28800606, PMID:29588463, PMID:30293640, PMID:30614526, PMID:30718709, PMID:11285252 RGD:70665 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:388431, PMID:7711739, PMID:11381270, PMID:12016587, PMID:12524598, PMID:12872256, PMID:15654695, PMID:17558852, PMID:19402160, PMID:19858128, PMID:20498079, PMID:21344540, PMID:24849935, PMID:25741868, PMID:27208204, PMID:27486776, PMID:28492532, PMID:30614526, PMID:30718709 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar Annotator: match by OMIM:209900
ClinVar PMID:15137946, PMID:18203199, PMID:21209035, PMID:21344540, PMID:22626039, PMID:25741868, PMID:26325687, PMID:28492532, PMID:30311386, PMID:30614526, PMID:30718709, PMID:15137946 RGD:1579974 NCBI chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:12567324, PMID:20498079, PMID:21209035, PMID:21344540, PMID:21642631, PMID:22302990, PMID:22500027, PMID:23572516, PMID:25741868, PMID:27486776, PMID:28492532, PMID:29970488, PMID:30614526, PMID:30718709, PMID:12567324 RGD:1579975 NCBI chr 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:16380913, PMID:20177705, PMID:20603001, PMID:22500027, PMID:23160099, PMID:23757202, PMID:24849935, PMID:25741868, PMID:28492532, PMID:29096039, PMID:29970488, PMID:30311386, PMID:30614526, PMID:30718709, PMID:16380913 RGD:9684996 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
JBrowse link
G Ccdc28b coiled coil domain containing 28B ISO DNA:mutation:exon:430C>T(human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:12677556, PMID:16327777, PMID:29127258, PMID:16327777 RGD:9685059 NCBI chr 5:147,823,446...147,828,449
Ensembl chr 5:147,823,447...147,828,449
JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr11:71,921,713...71,938,335
Ensembl chr11:71,921,716...71,938,165
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18327255, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,768,939...122,898,046
Ensembl chr 6:122,770,055...122,897,997
JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr12:4,546,240...4,546,871 JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266, PMID:24140113, PMID:25168386 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24488770, PMID:25446516, PMID:28492532, PMID:29704304, PMID:30761183 NCBI chr 7:119,393,384...119,409,710
Ensembl chr 7:119,393,384...119,409,710
JBrowse link
G Mkks McKusick-Kaufman syndrome ISO Bardet-Biedl syndrome 6 (BBS6)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar Annotator: match by OMIM:209900
ClinVar PMID:2896767, PMID:10802661, PMID:10973238, PMID:10973251, PMID:11179009, PMID:11567139, PMID:12107442, PMID:12920096, PMID:18094050, PMID:20142850, PMID:20472660, PMID:20498079, PMID:21209035, PMID:22353939, PMID:24400638, PMID:25741868, PMID:27491411, PMID:28492532, PMID:29127258, PMID:30311386, PMID:30614526, PMID:30718709, PMID:15483080, PMID:10973251 RGD:1601414, RGD:1581208 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO DNA:missense mutations: :p.D286G, p.I450T, p.C492W (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18327255, PMID:25741868, PMID:28492532, PMID:18327255 RGD:11070512 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nphp1 nephrocystin 1 ISO RGD PMID:24746959 RGD:11352646 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:93,080,618...93,155,033
Ensembl chr 9:93,080,615...93,155,027
JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,656,500...122,721,496
Ensembl chr 6:122,656,500...122,721,496
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:23,450,111...23,482,939
Ensembl chr 8:23,450,111...23,482,939
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:20835237, PMID:25741868, PMID:28492532 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
JBrowse link
G Tmem67 transmembrane protein 67 ISO DNA:missense mutation: :p.S320C (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16415887, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19574260, PMID:20232449, PMID:21068128, PMID:21866095, PMID:25741868, PMID:26035863, PMID:26092869, PMID:26729329, PMID:28492532, PMID:18327255 RGD:11070512 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Trappc3 trafficking protein particle complex 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 5:144,281,720...144,295,306
Ensembl chr 5:144,281,614...144,295,331
JBrowse link
G Trim32 tripartite motif-containing 32 susceptibility ISO DNA:missense mutation:exon:p.P130S
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:4269389, PMID:10399877, PMID:11822024, PMID:15786463, PMID:15886712, PMID:16606853, PMID:17994549, PMID:19303295, PMID:19349376, PMID:21775502, PMID:22025579, PMID:22981120, PMID:23142638, PMID:23541687, PMID:24033266, PMID:25351777, PMID:25741868, PMID:26467025, PMID:27491411, PMID:28492532, PMID:30311386, PMID:30823891, PMID:16606853 RGD:1624129 NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 susceptibility ISO DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:14520415, PMID:16308660, PMID:21044901, PMID:24033266, PMID:25097241, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30718709, PMID:14520415 RGD:1624198 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:20671153, PMID:25741868, PMID:27158779, PMID:28492532, PMID:29588463 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,729,834...122,767,462
Ensembl chr 6:122,729,874...122,767,462
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:10564830, PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:12920096, PMID:15314642, PMID:15770229, PMID:16327777, PMID:17003356, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20177705, PMID:20498079, PMID:20876674, PMID:21052717, PMID:21344540, PMID:21517826, PMID:21642631, PMID:22410627, PMID:22581970, PMID:22773737, PMID:22940089, PMID:23143442, PMID:23432027, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:24746959, PMID:25074776, PMID:25170860, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26518167, PMID:26872967, PMID:27032803, PMID:27434533, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29099798, PMID:29264490, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 1:220,137,280...220,143,387
Ensembl chr 1:220,137,257...220,144,319
JBrowse link
Bardet-Biedl syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar
OMIM
PMID:9714014, PMID:15314642 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr 1:274,649,085...274,663,544
Ensembl chr 1:274,649,490...274,650,363
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar
OMIM
PMID:10564830, PMID:12118255, PMID:12524598, PMID:12567324, PMID:12677556, PMID:12837689, PMID:12920096, PMID:15314642, PMID:15666242, PMID:15770229, PMID:16327777, PMID:16582908, PMID:16877420, PMID:17003356, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:19797195, PMID:20120035, PMID:20177705, PMID:20498079, PMID:20876674, PMID:21052717, PMID:21258341, PMID:21344540, PMID:21517826, PMID:21520335, PMID:21642631, PMID:22353939, PMID:22410627, PMID:22581970, PMID:22773737, PMID:22940089, PMID:23143442, PMID:23432027, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:24400638, PMID:24746959, PMID:25170860, PMID:25326635, PMID:25741868, PMID:26261414, PMID:26467025, PMID:26518167, PMID:26566502, PMID:26872967, PMID:27032803, PMID:27434533, PMID:27659767, PMID:28041643, PMID:28143435, PMID:28492532, PMID:29264490, PMID:29588463, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:10874630, PMID:11179009, PMID:11567139, PMID:16582908, PMID:16823392, PMID:17106446, PMID:17980398, PMID:20080638, PMID:20120035, PMID:20177705, PMID:20472660, PMID:20498079, PMID:20805367, PMID:20876674, PMID:21044901, PMID:21209035, PMID:21344540, PMID:21642631, PMID:22353939, PMID:22713813, PMID:22773737, PMID:23591405, PMID:24033266, PMID:24400638, PMID:24746959, PMID:25366773, PMID:25741868, PMID:25982971, PMID:26467025, PMID:27385962, PMID:27449316, PMID:27486776, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:22025579, PMID:22773737, PMID:25741868, PMID:25780760, PMID:28492532 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar