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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:enterocele
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Accession:DOID:1283 term browser browse the term
Definition:Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired.
Synonyms:exact_synonym: hernia;   hernias
 narrow_synonym: vaginal enterocele
 primary_id: MESH:D006547
 alt_id: RDO:0000904
 xref: ICD10CM:K46;   ICD10CM:N81.5;   ICD9CM:618.6
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
enterocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO RGD PMID:17872905 RGD:10401789 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018, PMID:9685346, PMID:10490637, PMID:10502778, PMID:10644443, PMID:11301317, PMID:11487566, PMID:12612071, PMID:14623826, PMID:14630904, PMID:15378534, PMID:15728254, PMID:16498627, PMID:18045789, PMID:18723525, PMID:19052653, PMID:20881294, PMID:22569110, PMID:25741868, PMID:26220699, PMID:28492532, PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
caudal regression syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Caudal dysgenesis syndrome ClinVar PMID:24033266, PMID:25741868, PMID:26196381, PMID:28492532 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Sacral agenesis ClinVar PMID:18564, PMID:9497245, PMID:10484775, PMID:11575529, PMID:12059893, PMID:12220451, PMID:12434264, PMID:16084090, PMID:16835904, PMID:16917943, PMID:19648156, PMID:19919814, PMID:23558838, PMID:23919265, PMID:24033266, PMID:24433488, PMID:25558065, PMID:25741868, PMID:25960145, PMID:27586648, PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Sacral defect with anterior meningocele
ClinVar Annotator: match by term: Caudal dysgenesis syndrome
ClinVar Annotator: match by synonym: Caudal regression syndrome
OMIM
ClinVar
PMID:17409324, PMID:19319979, PMID:22892949, PMID:24033266, PMID:24307374, PMID:24407469, PMID:24452931, PMID:24838524, PMID:25068569, PMID:25208524, PMID:25741868, PMID:26196381, PMID:28492532 NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP RGD PMID:22113494 RGD:6903875 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759, PMID:21258935 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr12:10,496,273...10,561,335 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:14724127, PMID:15477095, PMID:16217025, PMID:16519886, PMID:16828798, PMID:16865695, PMID:17325244, PMID:17626518, PMID:20474083, PMID:21842594, PMID:22215463, PMID:23143191, PMID:23168288, PMID:23806086, PMID:23861362, PMID:24033266, PMID:24088041, PMID:25214167, PMID:25736269, PMID:25741868, PMID:26467025, PMID:27651373, PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Eln elastin IEP mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Ep300 E1A binding protein p300 IEP mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086, PMID:24088041, PMID:25736269 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20938900 NCBI chr14:2,020,110...2,032,169
Ensembl chr14:2,018,500...2,032,593
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868, PMID:28492532 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO
IEP
DNA:deletion, frame shift:cds, splice junction:
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:
ClinVar
CTD
PMID:23221805, PMID:23806086, PMID:24088041, PMID:25736269, PMID:25741868, PMID:26382659, PMID:23221805, PMID:26382659, PMID:23221805 RGD:11554181, RGD:11554195, RGD:11554181 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 IEP
ISO
mRNA:decreased expression:heart (rat)
ClinVar Annotator: match by term: DIH
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar PMID:22158542, PMID:24385578, PMID:25326637, PMID:18280291 RGD:9068407 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343, PMID:21433279 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 treatment IEP RGD PMID:24352370 RGD:10402563 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343, PMID:21433279 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP RGD PMID:19844724 RGD:10402761 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 IEP RGD PMID:19844724 RGD:10402761 NCBI chr 9:80,154,230...80,166,813
Ensembl chr 9:80,150,211...80,167,033
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Kif7 kinesin family member 7 IEP
ISS
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO PMID:25921351 RGD:11553839 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:1104268, PMID:14559814, PMID:17483355, PMID:21970370, PMID:22703879, PMID:23806086, PMID:24088041, PMID:24728327, PMID:25605252, PMID:25736269, PMID:25741868, PMID:25859546, PMID:26467025, PMID:28492532 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868, PMID:31834374 NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:8589691, PMID:8863157, PMID:9584079, PMID:9856573, PMID:23806086, PMID:24033266, PMID:24088041, PMID:25736269, PMID:25741868, PMID:26467025, PMID:29407415 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr20:8,165,423...8,169,557
Ensembl chr20:8,165,307...8,169,555
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link
G Slit3 slit guidance ligand 3 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr10:19,924,200...20,517,918
Ensembl chr10:20,320,878...20,518,518
JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sox7 SRY-box transcription factor 7 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:47,293,699...47,300,460
Ensembl chr15:47,293,699...47,300,460
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:10541330 RGD:12904053 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A IEP protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:30311386 NCBI chr13:99,493,117...99,532,775
Ensembl chr13:99,493,120...99,531,959
JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 1:163,794,136...163,813,756
Ensembl chr 1:163,797,660...163,813,756
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS
ISO
OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
MouseDO
ClinVar
PMID:30311386 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Agtr1b angiotensin II receptor, type 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 2:105,149,020...105,224,335
Ensembl chr 2:105,149,020...105,224,295
JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593, PMID:17270560 NCBI chr 7:141,249,044...141,252,576
Ensembl chr 7:141,249,044...141,252,578
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 NCBI chr12:10,496,273...10,561,335 JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106, PMID:10693666 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106, PMID:10693666 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr10:18,047,109...18,082,290
Ensembl chr10:18,047,109...18,063,391
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr 3:142,383,084...142,387,493
Ensembl chr 3:142,383,278...142,387,481
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18280291, PMID:22158542, PMID:24385578, PMID:25326637 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552, PMID:16720372 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Hoxa5 homeo box A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244
G Hoxb3 homeo box B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr10:84,170,629...84,196,823
Ensembl chr10:84,182,118...84,195,796
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764, PMID:17245593 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 2:209,838,607...209,852,471
Ensembl chr 2:209,838,869...209,852,471
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 3:163,850,785...163,935,610
Ensembl chr 3:163,850,785...163,935,617
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868, PMID:31834374 NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
JBrowse link
G Myod1 myogenic differentiation 1 IEP mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Nkx2-1 NK2 homeobox 1 IEP
ISO
mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:10830305, PMID:16863852, PMID:17245593 RGD:1600158 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:7576705, PMID:8863223, PMID:7576705 RGD:5132862 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
JBrowse link
G Pax3 paired box 3 IEP mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Rxra retinoid X receptor alpha IEP mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305, PMID:16863852 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr10:19,924,200...20,517,918
Ensembl chr10:20,320,878...20,518,518
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP
ISO
protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:10646786, PMID:19635314 RGD:4145129 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr10:86,657,285...86,684,935
Ensembl chr10:86,657,285...86,684,933
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:30311386 NCBI chr13:99,493,117...99,532,775
Ensembl chr13:99,493,120...99,531,959
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diaphragmatic hernia
CTD
ClinVar
PMID:17436238, PMID:30311386 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
Diaphragmatic Hernia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia 3
ClinVar Annotator: match by OMIM:610187
OMIM
ClinVar
PMID:14517948, PMID:16103912, PMID:17568391, PMID:20807224, PMID:21919901, PMID:24702427, PMID:25741868, PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951, PMID:25741868, PMID:28492532 NCBI chr 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar Annotator: match by OMIM:222448
OMIM
ClinVar
PMID:8266995, PMID:9475100, PMID:11964399, PMID:11994745, PMID:12923867, PMID:16828734, PMID:17632512, PMID:18414213, PMID:18553518, PMID:20359920, PMID:23033978, PMID:23992033, PMID:24319098, PMID:24406863, PMID:24876117, PMID:25158045, PMID:25326635, PMID:25682901, PMID:25741868, PMID:26118977, PMID:26529358, PMID:28492532, PMID:32238909 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
Encephalocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:25741868, PMID:26862157, PMID:31680349 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Occipital encephalocele
ClinVar Annotator: match by term: Encephalocele
ClinVar PMID:17345604, PMID:17564974, PMID:17705300, PMID:20683928, PMID:21866095, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568, PMID:29398085, PMID:30311386, PMID:31680349 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Dnai3 dynein axonemal intermediate chain 3 ISO ClinVar Annotator: match by term: Occipital encephalocele ClinVar PMID:29285825 NCBI chr 2:251,912,432...251,970,699
Ensembl chr 2:251,912,368...251,970,768
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Cephalocele ClinVar PMID:30858804, PMID:31474318 NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Encephalocele ClinVar PMID:23932106, PMID:25741868, PMID:28492532, PMID:31680349 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868, PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790, PMID:15879500, PMID:21158752, PMID:23399955, PMID:24055113, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656, PMID:12030328, PMID:16217710, PMID:20531441, PMID:25466283, PMID:25741868, PMID:25873735, PMID:26070982, PMID:26123727, PMID:30315938 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar PMID:12030328, PMID:20531441, PMID:25741868, PMID:26123727 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED ClinVar
OMIM
PMID:12693786, PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 ClinVar
OMIM
PMID:11519896, PMID:15966048, PMID:17897280, PMID:18019379, PMID:21791310, PMID:28272532, PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4 ClinVar
OMIM
PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5 ClinVar
OMIM
PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6 OMIM
ClinVar
PMID:25741868, PMID:26416026, PMID:28617965, PMID:29597095, PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7 OMIM
ClinVar
PMID:25558065, PMID:25741868, PMID:28117080, PMID:28280135, PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8 OMIM
ClinVar
PMID:11793129, PMID:30427554 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
JBrowse link
gastroschisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:17051589 RGD:5148000 NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Congenital fissure of the abdominal cavity ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IEP protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:230750 MouseDO NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
Hernia, Ventral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain treatment IDA RGD PMID:26578432 RGD:11041579 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IDA RGD PMID:26578432 RGD:11041579 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
hiatus hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Barx1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:14,824,721...14,828,196
Ensembl chr17:14,824,734...14,828,329
JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:1301198, PMID:9232191, PMID:11359213, PMID:15146473, PMID:15365998, PMID:20490928, PMID:20506325, PMID:20567906, PMID:24211323, PMID:25218699, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fam120a family with sequence similarity 120A ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,106,101...16,196,054
Ensembl chr17:16,106,137...16,194,478
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:372,554...389,918
Ensembl chr17:372,551...389,967
JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:2,607,777...2,660,902
Ensembl chr17:2,607,777...2,660,902
JBrowse link
G Mirlet7a1 microRNA let-7a-1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,417,853...16,417,946
Ensembl chr17:16,417,855...16,417,954
JBrowse link
G Mirlet7d microRNA let-7d ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,419,980...16,420,077
Ensembl chr17:16,419,980...16,420,077
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,240,458...16,274,626
Ensembl chr17:16,204,427...16,274,624
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,333,369...16,381,887
Ensembl chr17:16,333,415...16,380,573
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:20400964, PMID:21990120, PMID:24800917, PMID:25741868, PMID:26261251, PMID:28492532, PMID:30311386 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar PMID:30311386 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
G Zfp169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatal hernia ClinVar NCBI chr17:16,443,324...16,471,329
Ensembl chr17:16,455,026...16,470,842
JBrowse link
inguinal hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:1301198, PMID:9232191, PMID:11359213, PMID:15146473, PMID:15365998, PMID:20490928, PMID:20506325, PMID:20567906, PMID:24211323, PMID:25218699, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:21520333, PMID:25741868, PMID:26436962, PMID:28492532, PMID:30311386 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868, PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:6407320, PMID:8574420, PMID:11135494, PMID:12514365, PMID:18384141, PMID:23810378, PMID:23810379, PMID:23810382, PMID:23980586, PMID:24886349, PMID:25326637, PMID:25741868, PMID:26974159, PMID:27766312, PMID:28492532, PMID:28632845, PMID:30311386 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Inguinal hernia ClinVar PMID:30311386 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Intervertebral Disc Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspn asporin ISO OMIM NCBI chr17:14,655,958...14,681,355
Ensembl chr17:14,656,009...14,679,409
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788
G Cilp cartilage intermediate layer protein ISO OMIM NCBI chr 8:70,760,922...70,775,891
Ensembl chr 8:70,760,922...70,775,891
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to OMIM
ClinVar
PMID:17999364, PMID:25741868 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:insertion
DNA:polymorphism
RGD PMID:18694864, PMID:15994869 RGD:5688295, RGD:5688297 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to OMIM
ClinVar
PMID:11308397, PMID:25741868 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Mir155 microRNA 155 treatment ISO miRNA:decreased expression:nucleus pulposus RGD PMID:27227700, PMID:27227700 RGD:24922221, RGD:24922221 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by synonym: Lumbar disc herniation, susceptibility to OMIM
ClinVar
PMID:18455130 NCBI chr 1:56,653,929...56,683,571
Ensembl chr 1:56,653,938...56,683,731
JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:21590431 RGD:5509092 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16372267 RGD:5685665 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Ctsl cathepsin L IEP protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Igf1 insulin-like growth factor 1 IMP RGD PMID:21037532 RGD:8549460 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 IEP protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il33 interleukin 33 IEP protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:28460630 RGD:25823200 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:24826482 RGD:10450584 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Jarcho-Levin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by OMIM:277300
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar
OMIM
PMID:2805381, PMID:10742114, PMID:12791036, PMID:15200511, PMID:15717203, PMID:18485326, PMID:25741868, PMID:28492532 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar PMID:25741868 NCBI chr 1:141,550,633...141,553,239
Ensembl chr 1:141,550,633...141,553,230
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
JBrowse link
Knobloch Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by synonym: Knobloch syndrome 1 ClinVar PMID:21862674, PMID:23667181 NCBI chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar Annotator: match by OMIM:267750
ClinVar Annotator: match by term: RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
OMIM
ClinVar
PMID:1554013, PMID:10942434, PMID:12415512, PMID:14695535, PMID:17546652, PMID:17975799, PMID:19160445, PMID:19390655, PMID:20799329, PMID:20979194, PMID:21862674, PMID:21937992, PMID:23667181, PMID:24033266, PMID:25456301, PMID:25741868, PMID:26467025, PMID:28041643, PMID:28492532, PMID:29977801, PMID:30007336, PMID:30311386, PMID:32860008 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar PMID:1554013, PMID:14695535, PMID:19390655, PMID:21862674, PMID:23667181, PMID:24033266, PMID:25456301, PMID:25741868, PMID:26467025, PMID:28041643, PMID:28492532, PMID:29977801, PMID:30311386, PMID:32860008 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
lateral meningocele syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Lehman syndrome ClinVar
OMIM
PMID:9188658, PMID:15666314, PMID:21337686, PMID:23696373, PMID:25394726, PMID:25741868, PMID:26754023 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Gruber syndrome
ClinVar PMID:18950740, PMID:19777577, PMID:22241855, PMID:22425360, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Meckel syndrome type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
ClinVar Annotator: match by OMIM:249000
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:18327255, PMID:19430481, PMID:21068128, PMID:21258341, PMID:23351400, PMID:23736532, PMID:24033266, PMID:25741868, PMID:25966130, PMID:26092869, PMID:26490104, PMID:27377014, PMID:28224992, PMID:28492532, PMID:28497568, PMID:30718709, PMID:23351400, PMID:17935508, PMID:19776033, PMID:21045211, PMID:17397051 RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome type 1 ClinVar PMID:25741868, PMID:27571260 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Meckel syndrome type 1
ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:24033266, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL SYNDROME 13 ClinVar
OMIM
PMID:26123494, PMID:26595381 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel syndrome, type 2
ClinVar Annotator: match by term: Meckel syndrome type 2
ClinVar Annotator: match by OMIM:603194
DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM
ClinVar
PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26673778, PMID:28492532, PMID:28497568, PMID:20512146 RGD:11067331 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
IAGP
ClinVar Annotator: match by term: Meckel syndrome, type 3
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3
ClinVar Annotator: match by term: Meckel syndrome type 3
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple
ClinVar Annotator: match by OMIM:607361
OMIM
ClinVar
PMID:2929661, PMID:9375913, PMID:10508989, PMID:16415887, PMID:16541367, PMID:17160906, PMID:17185389, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:22121117, PMID:23351400, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386, PMID:19211713, PMID:16415887, PMID:16415887, PMID:26191240, PMID:23351400, PMID:17377820, PMID:17397051 RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
ClinVar Annotator: match by term: Meckel syndrome type 4
ClinVar Annotator: match by OMIM:611134
DNA:frameshift mutation:exon:c.5489del (human)
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26667666, PMID:27353947, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:31680349, PMID:17705300 RGD:11070805 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5
ClinVar Annotator: match by term: Meckel syndrome type 5
ClinVar Annotator: match by OMIM:611561
OMIM
ClinVar
PMID:17558409, PMID:18414213, PMID:19430481, PMID:21068128, PMID:23188109, PMID:24033266, PMID:25741868, PMID:27434533, PMID:28492532, PMID:29343940, PMID:29991045, PMID:30311386 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar Annotator: match by OMIM:612284
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18414213, PMID:18513680, PMID:18950740, PMID:19466712, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22995991, PMID:24360807, PMID:24706459, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27081510, PMID:27082236, PMID:27854218, PMID:27894351, PMID:28492532, PMID:30311386, PMID:32488064 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar PMID:16682970, PMID:16682973, PMID:17564967, PMID:18327255, PMID:18414213, PMID:21068128, PMID:21245082, PMID:22355252, PMID:22693042, PMID:23591405, PMID:23954617, PMID:25741868, PMID:25818971, PMID:26092869, PMID:27353947, PMID:28492532, PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar PMID:21462283, PMID:23169490, PMID:26729329 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
Meckel Syndrome, Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Meckel syndrome 12 ClinVar
OMIM
PMID:24128419, PMID:25741868 NCBI chr13:53,350,073...53,421,992
Ensembl chr13:53,351,717...53,420,111
JBrowse link
parietal foramina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Enlarged parietal foramina
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11137991 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Enlarged parietal foramina
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parietal foramina
ClinVar
CTD
PMID:7597092, PMID:8106171, PMID:8357019, PMID:8968743, PMID:9256341, PMID:11137991, PMID:18786927, PMID:23918290, PMID:23949913, PMID:27013732, PMID:27884935, PMID:28492532, PMID:28808027 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
Parietal Foramina 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Parietal foramina 1
ClinVar
OMIM
PMID:10742103, PMID:10767351, PMID:16222674, PMID:25741868, PMID:28492532 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
Parietal Foramina 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Parietal foramina 2
ClinVar Annotator: match by OMIM:609597
OMIM
ClinVar
PMID:11106354, PMID:11137991, PMID:16319823, PMID:22829454, PMID:24764194, PMID:28492532 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:14571277 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
Smith-Kingsmore Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar
PMID:7550332, PMID:7809080, PMID:8660990, PMID:9326330, PMID:11092830, PMID:12974736, PMID:15254238, PMID:15314020, PMID:15467718, PMID:15755954, PMID:15805158, PMID:16647875, PMID:17286265, PMID:18354181, PMID:19854944, PMID:19963289, PMID:20731814, PMID:22023617, PMID:22053105, PMID:22552098, PMID:22654878, PMID:22729223, PMID:23161681, PMID:23209702, PMID:23516405, PMID:23555892, PMID:23934111, PMID:24497577, PMID:24631838, PMID:25473036, PMID:25533962, PMID:25599672, PMID:25741868, PMID:25851998, PMID:26542245, PMID:26619011, PMID:27159400, PMID:27513193, PMID:27753196, PMID:27830187, PMID:28475857, PMID:28492532, PMID:28554332, PMID:28892148, PMID:32581362 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
umbilical hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22473653 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:21238647 RGD:11567270 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:21238647 RGD:11567270 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Umbilical hernias ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Anatomical Pathological Conditions 1536
        enterocele 193
          Abdominal Hernia + 33
          Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
          Diaphragmatic Hernia + 120
          Encephalocele + 19
          Hernia, Obturator 0
          Incisional Hernia 0
          Intervertebral Disc Displacement + 23
          Megarbane Syndrome 0
          Rectocele 0
          meningocele + 6
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              prolapse of female genital organ 193
                enterocele 193
                  Abdominal Hernia + 33
                  Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
                  Diaphragmatic Hernia + 120
                  Encephalocele + 19
                  Hernia, Obturator 0
                  Incisional Hernia 0
                  Intervertebral Disc Displacement + 23
                  Megarbane Syndrome 0
                  Rectocele 0
                  meningocele + 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.