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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:mouth disease
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Accession:DOID:403 term browser browse the term
Definition:A gastrointestinal system disease that is located_in the mouth. (DO)
Synonyms:exact_synonym: mouth diseases
 primary_id: MESH:D009059
 xref: NCI:C27641;   NCI:C3240
For additional species annotation, visit the Alliance of Genome Resources.


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mouth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 2:74,380,706...74,411,875
Ensembl chr 2:74,380,708...74,411,825
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,131...200,072,556
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:serum RGD PMID:21625744 RGD:6482317 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G DDIT4 DNA damage inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr14:75,117,708...75,119,907
Ensembl chr14:75,117,707...75,119,903
JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr10:33,432,529...33,445,556
Ensembl chr10:33,432,844...33,445,532
JBrowse link
G FANCG FA complementation group G ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:14699553 RGD:10402103 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358
JBrowse link
G GSS glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,304
JBrowse link
G LOC100521659 cytochrome P450 26B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 3:70,573,551...70,593,416
Ensembl chr 3:70,572,197...70,593,408
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G S100A12 S100 calcium binding protein A12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 4:96,225,691...96,227,030
Ensembl chr 4:96,225,693...96,227,137
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 OMIM NCBI chr15:138,228,640...138,276,341 JBrowse link
Actinic Cheilitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
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 OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
aggressive periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRINP3 BMP/retinoic acid inducible neural specific 3 ISO mRNA:increased expression:saliva RGD PMID:20383335 RGD:14398489 NCBI chr10:2,963,237...3,367,629
Ensembl chr10:2,963,527...3,367,623
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CTSC cathepsin C ISO OMIM NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,035...21,761,473
JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-592C>A (rs1800872) (human)
protien:decreased expression:plasma
RGD PMID:28662328, PMID:28868949 RGD:14975139, RGD:14975264 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human)
associated with Periodontitis;
RGD PMID:18315432, PMID:24818754 RGD:8662884, RGD:8662885 NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,588,659...79,649,648
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G IL10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,466,586...24,505,422
JBrowse link
amelogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta RGD
ClinVar
PMID:8406474 RGD:1300370 NCBI chr  X:8,055,246...8,063,457 JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386
JBrowse link
G BNC2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,924,881...206,372,152
JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 3:16,812,409...16,819,130 JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:30311386 NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,900...26,183,178
JBrowse link
G ENAM enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD
ClinVar
PMID:15649948, PMID:17652207, PMID:25741868, PMID:28492532 NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,170
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358, PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr 3:159,107...200,462
Ensembl chr 3:163,419...200,460
JBrowse link
G FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629, PMID:19407157 NCBI chr 4:887,472...907,523
Ensembl chr 4:891,988...907,522
JBrowse link
G GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,913,207
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,340...6,720,172
JBrowse link
G PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,040...118,160,256
JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP20 matrix metallopeptidase 20 ISO OMIM NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047
JBrowse link
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR72 WD repeat domain 72 ISO OMIM NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,040...118,160,256
JBrowse link
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ODAPH odontogenesis associated phosphoprotein ISO OMIM NCBI chr 8:71,215,091...71,225,787 JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC24A4 solute carrier family 24 member 4 ISO OMIM NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,189...114,011,301
JBrowse link
Amelogenesis Imperfecta Hypomaturation Type, 2A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR68 G protein-coupled receptor 68 ISO OMIM NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,913,207
JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMB3 laminin subunit beta 3 ISO OMIM NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197
JBrowse link
amelogenesis imperfecta type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,900...26,183,178
JBrowse link
G ENAM enamelin ISO OMIM NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,170
JBrowse link
amelogenesis imperfecta type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENAM enamelin ISO OMIM NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,170
JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,040...118,160,256
JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMELX amelogenin X-linked ISO OMIM NCBI chr  X:8,055,246...8,063,457 JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1
ClinVar PMID:1483698, PMID:1916828, PMID:1967204, PMID:3169793, PMID:4623931, PMID:5225441, PMID:7599636, PMID:7782077, PMID:8406474, PMID:9188994, PMID:10669095, PMID:11201048, PMID:11839357, PMID:11922868, PMID:15111628, PMID:23251683 NCBI chr  X:7,910,851...8,441,579
Ensembl chr  X:7,910,858...8,120,386
JBrowse link
amelogenesis imperfecta type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMBN ameloblastin ISO OMIM NCBI chr 8:67,381,137...67,394,394
Ensembl chr 8:67,381,121...67,394,394
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20A FAM20A golgi associated secretory pathway pseudokinase ISO OMIM NCBI chr12:11,606,469...11,663,086
Ensembl chr12:11,607,233...11,657,738
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,202
JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGB6 integrin subunit beta 6 ISO OMIM NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,519...67,175,234
JBrowse link
Amelogenesis Imperfecta Type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP4 acid phosphatase 4 ISO OMIM NCBI chr 6:55,535,406...55,541,929
Ensembl chr 6:55,537,076...55,541,928
JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLK4 kallikrein related peptidase 4 ISO OMIM NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294
JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM83H family with sequence similarity 83 member H ISO OMIM NCBI chr 4:887,472...907,523
Ensembl chr 4:891,988...907,522
JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMTN amelotin ISO OMIM NCBI chr 8:67,312,108...67,327,775
Ensembl chr 8:67,312,972...67,326,700
JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELT RELT TNF receptor ISO OMIM NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,406...7,854,496
JBrowse link
amelogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX3 distal-less homeobox 3 ISO OMIM NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,900...26,183,178
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 OMIM NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,508,016...64,558,057
JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224
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 OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...616,199
JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:9654207, PMID:10400129, PMID:10801053, PMID:12227467, PMID:14707518, PMID:15776412, PMID:20224900, PMID:22698809, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,903,680
JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:122,931,808...123,317,141
JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:25741868 NCBI chr15:121,560,009...121,581,314
Ensembl chr15:121,560,007...121,581,710
JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr15:133,033,848...133,039,583
Ensembl chr15:133,034,454...133,039,367
JBrowse link
G RARS1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:28905880, PMID:30311386 NCBI chr16:55,373,739...55,412,076
Ensembl chr16:55,373,726...55,412,117
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr 6:47,339,759...47,458,457 JBrowse link
anodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:26406231 NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,293...12,343,200
JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr14:97,487,854...97,490,118
Ensembl chr14:97,487,226...97,490,450
JBrowse link
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypodontia
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar PMID:11295832, PMID:12949972, PMID:19278982, PMID:19623212, PMID:19921643, PMID:21357618, PMID:21457804, PMID:22350046, PMID:23553579, PMID:24033266, PMID:24487376, PMID:24664614, PMID:25741868, PMID:26325558, PMID:26345974, PMID:26753551, PMID:27144394, PMID:28492532 NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,240...56,103,265
JBrowse link
G GLI3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,515,097
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874, PMID:25899461 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,340...6,720,172
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,003...33,568,076
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MSX1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8696335 RGD:1600484 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: TOOTH AGENESIS, FAMILIAL
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar Annotator: match by term: Hypodontia
ClinVar PMID:12605438, PMID:15615874, PMID:16479262, PMID:19429910, PMID:22581971, PMID:26571067, PMID:28492532, PMID:28847717 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,710...63,346,310
JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100625479 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: Absence of permanent teeth ClinVar PMID:10655546, PMID:11774072, PMID:11980847, PMID:14507861, PMID:16688110, PMID:16735991, PMID:16735994, PMID:17563717, PMID:17591938, PMID:17718864, PMID:18622259, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:21081970, PMID:21168818, PMID:23028769, PMID:24033266, PMID:24281366, PMID:25741868, PMID:25978063, PMID:27408750, PMID:27508083, PMID:27535533, PMID:28384041, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr15:129,172,743...129,176,069 JBrowse link
G IL12B interleukin 12B treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,147,247...64,158,952
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
aplasia of lacrimal and salivary glands term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 ISO OMIM NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO OMIM NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,743...119,754,650
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO OMIM NCBI chr14:4,289,257...4,318,587
Ensembl chr14:4,289,340...4,318,579
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO OMIM NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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 chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,097,397...103,382,115
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 chr13:104,946,732...105,007,568 JBrowse link
G FOXE1 forkhead box E1 ISO OMIM NCBI chr 1:239,727,769...239,732,461
Ensembl chr 1:239,727,855...239,728,976
JBrowse link
Barber-Say 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 OMIM NCBI chr15:138,228,640...138,276,341 JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO OMIM NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,817,236...54,851,834
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 no_association
susceptibility
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15045629, PMID:15961928 RGD:7829810, RGD:8142349 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Behcet's syndrome
ClinVar Annotator: match by term: Behcet Syndrome
ClinVar PMID:28492532, PMID:28814775 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,434...69,554,661
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G APOA1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:erythrocyte:
CTD
RGD
PMID:12074830, PMID:17206395 RGD:9068907 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO protein:increased expression:plasma (human)
DNA:snp:promoter:g.-2518A>G (human)
RGD PMID:12712358, PMID:19782713 RGD:8548882, RGD:8549488 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,220...29,233,960
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
protein:increased expression:blood, T cell (human)
RGD PMID:15009175, PMID:15501397, PMID:17067435 RGD:4892106, RGD:8551814, RGD:8551827 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CFB complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,244
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CYP1A1 cytochrome P450 1A1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,780,105...58,809,755
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175
G ICAM1 intercellular adhesion molecule 1 no_association
susceptibility
ISO DNA:SNP:exon:p.R241G (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.K469E (human)
RGD
CTD
PMID:8712863, PMID:10792421, PMID:11409120, PMID:12074830, PMID:12808331 RGD:8158115, RGD:8158123, RGD:8547575 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IFNG interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:2154346, PMID:21334264 RGD:8142356, RGD:8142377 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
G IL10 interleukin 10 susceptibility
onset
disease_progression
treatment
ISO DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, serum
RGD
CTD
PMID:15980236, PMID:20622878, PMID:20622879, PMID:21506890, PMID:26654556, PMID:29294320, PMID:29719061 RGD:14975131, RGD:14975149, RGD:14975256, RGD:1598628, RGD:7364843 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 no_association
susceptibility
ISO DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD PMID:14727452, PMID:15234532, PMID:16273766, PMID:17055358, PMID:21532063 RGD:4889844, RGD:8655897, RGD:8655910, RGD:8655926, RGD:8655927 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213
G IL2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,344...19,489,152
JBrowse link
G IL23R interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:20375120, PMID:22483685 RGD:8549550, RGD:8549565 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,577
JBrowse link
G IL4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
JBrowse link
G ITGAL integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,057
JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,954...207,544,108
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213
G MBL2 mannose binding lectin 2 susceptibility
severity
ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)
RGD PMID:15693089, PMID:15730518 RGD:1582154, RGD:1582155 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:27156371, PMID:30366049 RGD:21409751, RGD:25671481 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:17949555, PMID:22116092 RGD:8547820, RGD:8657044 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility
no_association
ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet's syndrome
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
RGD
ClinVar
PMID:15515785, PMID:19748964, PMID:28492532 RGD:13204711, RGD:8158059 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association
ISO DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (human)
RGD PMID:11908569, PMID:15705632, PMID:16463158, PMID:21957880 RGD:7771576, RGD:7771577, RGD:7775048, RGD:7775050 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,756...57,146,754
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222, PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)
CTD
RGD
PMID:12074830, PMID:18341631 RGD:8547693 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SLA-DMA SLA-DM alpha chain no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr 7:25,133,494...25,137,928
Ensembl chr 7:25,133,214...25,138,348
JBrowse link
G SLA-DMB MHC class II, DM beta no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr 7:25,119,278...25,125,089
Ensembl chr 7:25,117,685...25,125,847
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G STAT3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606, PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20438790, PMID:23001997, PMID:23291587 RGD:8661713, RGD:8661718 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TLR2 toll like receptor 2 no_association
susceptibility
ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:polymorphism: :12408G>A(human)
mRNA:increased expression:intestine:
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:18336589, PMID:19796535, PMID:23908180, PMID:24255044 RGD:8552883, RGD:8552885, RGD:8552888, RGD:8552915 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR3 toll like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association
ISO mRNA:increased expression:mononulcear cell:
DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
RGD PMID:18234118, PMID:18336589, PMID:18408113, PMID:19796535 RGD:7777175, RGD:7777176, RGD:8552888, RGD:8552915 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor no_association ISO DNA:SNP:promoter
DNA:SNP:promoter:-308G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
RGD PMID:12632436, PMID:12770792, PMID:14600787, PMID:15875188, PMID:20601837, PMID:21334264 RGD:12904036, RGD:12904040, RGD:12904048, RGD:7394759, RGD:7401213, RGD:8142356 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet's syndrome
RGD
ClinVar
PMID:14600787, PMID:28492532 RGD:7401213 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNP: :rs1544410 (human)
DNA:SNP:exon:rs2228570 (human)
RGD PMID:21820934 RGD:8158077 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VIM vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,172
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXC13 homeobox C13 IEA Ectodermal dysplasia-9 OMIA NCBI chr 5:19,151,096...19,159,008
Ensembl chr 5:19,151,169...19,157,657
JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 5:53,760,816...54,016,979
Ensembl chr 5:53,760,818...54,017,186
JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 ISO OMIM NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNND1 catenin delta 1 ISO OMIM NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224
JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP3 latent transforming growth factor beta binding protein 3 ISO OMIM NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,340...6,720,172
JBrowse link
bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Teeth grinding ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,982...116,139,427
JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Bruxism ClinVar PMID:15737703, PMID:25741868 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,789,110
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:26142438, PMID:28381441 NCBI chr 5:22,435,636...22,519,276 JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor ISO OMIM NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,674...273,111,727
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMP1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435, PMID:31932796 NCBI chr 1:216,312,827...216,382,063
Ensembl chr 1:216,312,627...216,396,325
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 ISO OMIM NCBI chr 1:216,382,179...216,494,815
Ensembl chr 1:216,318,901...216,494,793
JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,511...64,328,105
JBrowse link
Cerebellofaciodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO OMIM
Chronic Periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRINP3 BMP/retinoic acid inducible neural specific 3 susceptibility ISO DNA:SNP: :rs1935881(human) RGD PMID:25887438 RGD:14398485 NCBI chr10:2,963,237...3,367,629
Ensembl chr10:2,963,527...3,367,623
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:gingival tissues
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20731768, PMID:21382035 RGD:6480655 NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,429...91,552,766
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,233
JBrowse link
G DSC1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 6:115,042,225...115,076,097
Ensembl chr 6:115,039,719...115,076,097
JBrowse link
G DSG1 desmoglein 1 ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,646
JBrowse link
G ESR1 estrogen receptor 1 no_association ISO DNA:polymorphism RGD PMID:15324358 RGD:10045837 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G IL10 interleukin 10 ISO DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) RGD PMID:31055876 RGD:14975127 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,803,165...51,951,383
JBrowse link
G IL33 interleukin 33 ISO mRNA, protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G ITGB2 integrin subunit beta 2 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,954...207,544,108
JBrowse link
G MIR155 microRNA mir-155 treatment ISO RGD PMID:29517812 RGD:21403685 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MMP1 matrix metallopeptidase 1 no_association
severity
ISO DNA:insertion:promoter:g.-1607insG (human)
mRNA:increased expression:gingiva (human)
RGD PMID:12622858, PMID:15312099, PMID:22401717 RGD:7206856, RGD:7207045, RGD:7207046 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO mRNA:increased expression:gingival tissues
associated with Atherosclerosis
RGD PMID:21382035, PMID:24820783 RGD:13207324, RGD:6480655 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NES nestin ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,557...93,421,895
JBrowse link
G RAC2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 5:10,553,986...10,571,082
Ensembl chr 5:10,553,433...10,573,017
JBrowse link
G TLR2 toll like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR3 toll like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G TLR4 toll like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR9 toll like receptor 9 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,466,586...24,505,422
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,632...123,331,144
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 4:123,082,137...123,158,275
Ensembl chr 4:123,085,922...123,158,928
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:87,866,631...87,882,623
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
RGD
ClinVar
PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868 RGD:13442495, RGD:13442497 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CDH1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
RGD
ClinVar
PMID:15831593, PMID:25741868, PMID:28492532, PMID:29805042 RGD:1599548 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,077...90,767,487
JBrowse link
G ESRP2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 6:28,804,425...28,814,478
Ensembl chr 6:28,802,655...28,812,963
JBrowse link
G FGF1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,390...144,241,323
JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,208...3,496,532
JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,878...122,542,224
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17963255, PMID:24613087 RGD:11567264 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,473,013...40,489,032
JBrowse link
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G IRF6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD
ClinVar
RGD
PMID:12219090, PMID:17041601, PMID:18836445, PMID:20436469 RGD:1600214 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G KIF7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:48,717,518...48,873,492 JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr17:43,408,390...43,411,782 JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183, PMID:25129243 RGD:12910961, RGD:12910962 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)
CTD
RGD
PMID:16470725, PMID:27387868 RGD:11565179 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
G NOG noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:11251786, RGD:12801482 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr12:54,089,444...54,292,191
Ensembl chr12:54,089,472...54,308,355
JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 5:53,760,816...54,016,979
Ensembl chr 5:53,760,818...54,017,186
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 2:42,081,546...42,311,526
Ensembl chr 2:42,081,530...42,311,547
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,003,618...40,129,483
Ensembl chr 4:40,002,749...40,129,697
JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human)
CTD
RGD
PMID:18797703, PMID:21254359 RGD:11565176 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16990542 NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,496,323...47,515,965
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,867...85,017,820
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16688749 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,640,031...105,660,601
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO OMIM NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:87,866,631...87,882,623
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G BNC2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,924,881...206,372,152
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism
DNA:insertion
CTD
RGD
PMID:9787075 RGD:11576291 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160
JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 6:27,684,320...27,750,856
Ensembl chr 6:27,684,030...27,776,751
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,307,610...111,351,712
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :rs3129208 (human)
DNA:SNPs, haplotypes: :multiple
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,496...25,234,888
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL2A1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)
CTD
RGD
PMID:15562585, PMID:20672350 RGD:12436724 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr13:132,819,931...133,084,880
Ensembl chr13:132,820,870...133,086,843
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,077...90,767,487
JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,208...3,496,532
JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,878...122,542,224
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
G FLNB filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 9:20,714,995...20,721,460
Ensembl chr 9:20,294,885...20,721,766
JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,473,013...40,489,032
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,155...63,924,535
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236
JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr15:94,956,535...94,987,286
Ensembl chr15:94,956,532...94,987,279
JBrowse link
G IRF6 interferon regulatory factor 6 ISO DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:12219090, PMID:12920575, PMID:17041601, PMID:20672350, PMID:25741868 RGD:12436724, RGD:1600214 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:48,717,518...48,873,492 JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr12:48,469,230...48,486,737
Ensembl chr12:48,469,234...48,486,729
JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12163415, PMID:12701100, PMID:12807959, PMID:15301380 RGD:5132609 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,976...98,322,469
JBrowse link
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 6:150,834,002...151,229,773
Ensembl chr 6:150,835,464...151,426,550
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,710...63,346,310
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G RARG retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 5:18,436,267...18,458,625
Ensembl chr 5:18,436,267...18,458,625
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,241
JBrowse link
G RYK receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr13:75,285,482...75,390,314
Ensembl chr13:75,287,111...75,390,525
JBrowse link
G SATB2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803, PMID:19170718, PMID:30311386 NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,404...103,154,630
JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,003,618...40,129,483
Ensembl chr 4:40,002,749...40,129,697
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G SHOX2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr13:97,879,586...97,892,276
Ensembl chr13:97,879,281...97,890,447
JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr13:200,354,963...200,408,890
Ensembl chr13:200,354,920...200,403,247
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
G TBX22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
RGD
ClinVar
PMID:12374769, PMID:25741868 RGD:724722 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,576...63,847,436
JBrowse link
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 9:13,040,615...13,826,957 JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,424...8,405,771
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:7493022, PMID:17097601, PMID:26971374 RGD:12801424 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,511...99,162,232
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,867...85,017,820
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr15:84,226,953...84,501,320 JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,640,031...105,660,601
JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678, PMID:11559848, PMID:12374769, PMID:14729838, PMID:22784330 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,576...63,847,436
JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 ISO OMIM NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012
JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM1A lysine demethylase 1A ISO OMIM NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,496...80,971,595
JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Cleft velum ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,513...40,459,686
JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LONP1 lon peptidase 1, mitochondrial ISO OMIM NCBI chr 2:73,266,310...73,286,774
Ensembl chr 2:73,266,258...73,286,774
JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 ISO OMIM NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,208...3,496,532
JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDPCP WD repeat containing planar cell polarity effector ISO OMIM NCBI chr 3:78,435,154...78,726,313 JBrowse link
Congenital Macroglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,982...116,139,427
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,458...120,712,462
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:30311386 NCBI chr 9:88,286,911...88,290,131 JBrowse link
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO OMIM NCBI chr 7:23,247,827...23,252,240
Ensembl chr 7:23,245,743...23,294,218
JBrowse link
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 ISO OMIM NCBI chr 6:118,816,967...118,987,762
Ensembl chr 6:118,817,947...119,019,458
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL11RA interleukin 11 receptor subunit alpha ISO OMIM NCBI chr10:32,138,984...32,149,315 JBrowse link
dental caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110258578 interleukin-1 beta-like ISO DNA:SNP: :rs1143627C>T (human) RGD PMID:30803280 RGD:14975276
dental fluorosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO mRNA, protein:increased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr 5:41,571,054...41,636,058 JBrowse link
G FIS1 fission, mitochondrial 1 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:24958380 RGD:12437081 NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,931,104...8,941,865
JBrowse link
G MFN1 mitofusin 1 ISO mRNA, protein:decreased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
JBrowse link
dental pulp calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Denticles ClinVar PMID:12354781, PMID:18456718, PMID:26788535 NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
JBrowse link
Dental Pulp Exposure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD86 CD86 molecule ISO mRNA:increased expression:thalamus (rat)
mRNA:increased expression:periodontal ligament (rat)
RGD PMID:20113783, PMID:20171363 RGD:4892210, RGD:4892246 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748
JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 2:77,708,159...77,730,881
Ensembl chr 2:77,708,161...77,730,881
JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 4:94,545,919...94,560,105
Ensembl chr 4:94,545,704...94,560,106
JBrowse link
G OPTN optineurin ISO mRNA:increased expression:dental pulp (rat) RGD PMID:16109995 RGD:7775038 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,844...48,582,910
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:brain, astrocyte RGD PMID:20043976 RGD:5508788
dentin dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO mRNA:decreased expression:incisor, molar (mouse) RGD PMID:11116156 RGD:734904 NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
JBrowse link
Dentin Dysplasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMOC2 SPARC related modular calcium binding 2 ISO OMIM NCBI chr 1:1,193,163...1,332,739
Ensembl chr 1:1,193,163...1,333,092
JBrowse link
Dentin Dysplasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO OMIM NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
JBrowse link
dentinogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta
RGD
ClinVar
PMID:7691343, PMID:7695699, PMID:8218237, PMID:9016532, PMID:11286811, PMID:17078022, PMID:19344236, PMID:24668929, PMID:25741868, PMID:25944380, PMID:27509835, PMID:28492532, PMID:29807018 RGD:11571615 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:26788535 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G DSPP dentin sialophosphoprotein ISO OMIM NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
JBrowse link
Dentinogenesis Imperfecta, Shields Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO OMIM NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,615
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO OMIM NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,240...56,103,265
JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:52,522,231...52,533,080 JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:25741868 NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,327...47,465,791
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,201...120,938,430
JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDAR ectodysplasin A receptor ISO OMIM NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,327...47,465,791
JBrowse link
G EDARADD EDAR associated death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia
CTD
ClinVar
PMID:17354266 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,739...54,990,849
JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,706...47,523,536
JBrowse link
G EDAR ectodysplasin A receptor ISO OMIM NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,327...47,465,791
JBrowse link
G EDARADD EDAR associated death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
CTD
ClinVar
PMID:9245989, PMID:11780064, PMID:17354266 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,739...54,990,849
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,358...47,601,379
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated death domain ISO OMIM NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,739...54,990,849
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated death domain ISO OMIM NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,739...54,990,849
JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDF1 keratinocyte differentiation factor 1 ISO OMIM NCBI chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041
JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CST6 cystatin E/M ISO OMIM NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,737...6,325,477
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:missense mutation:exon:p.R318H (mouse)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
CTD
ClinVar
RGD
PMID:10535733, PMID:10839977, PMID:11462173, PMID:12525544, PMID:12939657, PMID:15324320, PMID:16691622, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:25983622, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206 RGD:11070288, RGD:11568074, RGD:11568075, RGD:11568638, RGD:11568639 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
Ehlers-Danlos Syndrome, Periodontal Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar PMID:890102, PMID:2260589, PMID:12776252, PMID:22739343, PMID:27663155, PMID:27745832 NCBI chr 5:63,644,097...63,655,149 JBrowse link
G C1S complement C1s ISO OMIM NCBI chr 5:63,670,309...63,681,466 JBrowse link
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNK4 potassium two pore domain channel subfamily K member 4 ISO OMIM NCBI chr 2:7,817,062...7,824,390
Ensembl chr 2:7,817,342...7,823,927
JBrowse link
Facial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:19427307 RGD:2325258 NCBI chr 6:105,414,628...105,422,294
Ensembl chr 6:105,414,630...105,422,295
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:9813301 RGD:10047413 NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,984,977...81,091,532
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CD59 CD59 molecule ISO mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 2:27,186,587...27,207,303 JBrowse link
G CSF1 colony stimulating factor 1 ISO protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,478...110,197,901
JBrowse link
G CTSS cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,390,250...98,442,936
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr14:126,273,558...126,499,957
Ensembl chr14:126,277,857...126,499,465
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:21562589 RGD:8548634 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G MT3 metallothionein 3 treatment ISO RGD PMID:14625437 RGD:9685806 NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,721...18,789,137
JBrowse link
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 ISO mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr18:23,881,872...23,896,699
Ensembl chr18:23,881,867...23,924,133
JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB6 tubulin beta 6 class V ISO OMIM NCBI chr 6:97,233,639...97,240,692
Ensembl chr 6:97,229,868...97,240,665
JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Facial palsy ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,982...116,139,427
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Facial paralysis ClinVar PMID:30311386 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 3:113,661,712...113,668,558 JBrowse link
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFAIP3 TNF alpha induced protein 3 ISO OMIM NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
JBrowse link
Frontonasal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 ISO OMIM NCBI chr 5:96,761,683...96,785,125
Ensembl chr 5:96,762,592...96,784,972
JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA5 ATP binding cassette subfamily A member 5 ISO OMIM NCBI chr12:11,018,692...11,152,916
Ensembl chr12:10,954,541...11,152,727
JBrowse link
gingival fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Gingival fibromatosis RGD
ClinVar
PMID:11868160, PMID:25741868 RGD:1580011 NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,089,243...101,362,723
JBrowse link
G ZNF862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr18:55,842,970...55,883,476
Ensembl chr18:55,842,964...55,883,476
JBrowse link
Gingival Fibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REST RE1 silencing transcription factor ISO ClinVar Annotator: match by term: Gingival fibromatosis 1 ClinVar PMID:28686854 NCBI chr 8:56,035,182...56,061,140
Ensembl chr 8:56,035,150...56,215,013
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO OMIM NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,089,243...101,362,723
JBrowse link
gingival fibromatosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REST RE1 silencing transcription factor ISO OMIM NCBI chr 8:56,035,182...56,061,140
Ensembl chr 8:56,035,150...56,215,013
JBrowse link
Gingival Hemorrhage 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: Gingival hemorrhage ClinVar PMID:32581362 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,893
JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Gingival hemorrhage 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 chr13:206,205,942...206,231,363 JBrowse link
Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023675 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,878...122,542,224
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Gingival hyperplasia ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
gingival hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667, PMID:14508707 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,926,894
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Gingival hypertrophy ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
gingival overgrowth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Gingival enlargement ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
gingivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FMOD fibromodulin ISO protein:increased expression:gingiva RGD PMID:15196146 RGD:2315079 NCBI chr 9:64,062,995...64,073,853
Ensembl chr 9:64,062,999...64,073,859
JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) RGD PMID:19186972 RGD:2307265 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Scleroderma, Systemic;protein:decreased expression:gingiva: RGD PMID:18206400 RGD:7421591 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 ISO OMIM NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,752...73,398,345
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects ClinVar PMID:12402331, PMID:16086329, PMID:16088892, PMID:19105186, PMID:25525159, PMID:25741868, PMID:26387595, PMID:27302843, PMID:28492532, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 9:72,360,321...72,370,064
Ensembl chr 9:72,360,483...72,368,607
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 ISO OMIM NCBI chr 9:72,385,755...72,444,718
Ensembl chr 9:72,385,263...72,444,616
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,858...38,052,370
JBrowse link
HELIX syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN10 claudin 10 ISO OMIM NCBI chr11:65,027,706...65,145,002
Ensembl chr11:65,027,732...65,147,242
JBrowse link
Hemifacial Spasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 ISO RGD PMID:30684712 RGD:14975126 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXB1 homeobox B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr12:24,784,953...24,786,377
Ensembl chr12:24,784,953...24,786,377
JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXB1 homeobox B1 ISO OMIM NCBI chr12:24,784,953...24,786,377
Ensembl chr12:24,784,953...24,786,377
JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO OMIM NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia RGD
ClinVar
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:31028034 RGD:14398763 NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,240...56,103,265
JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:52,522,231...52,533,080 JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28808699 NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,327...47,465,791
JBrowse link
G EDARADD EDAR associated death domain ISO DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
RGD
ClinVar
PMID:20222921, PMID:20979233, PMID:21626677, PMID:22013926, PMID:25741868, PMID:28492532 RGD:14398762 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,739...54,990,849
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,358...47,601,379
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,201...120,938,430
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748
JBrowse link
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868, PMID:27029625 NCBI chr14:80,473,867...80,480,818 JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTBP1 C-terminal binding protein 1 ISO OMIM NCBI chr 8:475,164...496,510
Ensembl chr 8:475,082...495,984
JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:22473090, PMID:24728327, PMID:27153395, PMID:28492532 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:25326635, PMID:25533962, PMID:25741868, PMID:26596517, PMID:29023086, PMID:32581362 NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,404...103,154,630
JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO OMIM NCBI chr 3:56,814,823...56,858,460
Ensembl chr 3:56,814,829...56,858,453
JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain 11 ISO OMIM NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...616,199
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,375,758...77,597,674
JBrowse link
G TRAPPC2L trafficking protein particle complex 2 like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149, PMID:26467025, PMID:28492532 NCBI chr 6:865,498...869,253
Ensembl chr 6:863,802...869,226
JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO OMIM NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,035...21,761,473
JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT1 fermitin family member 1 ISO OMIM NCBI chr17:15,080,585...15,137,947
Ensembl chr17:15,080,587...15,137,753
JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:38,117,211...38,303,600
Ensembl chr 3:38,103,923...38,303,538
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,639,811...37,689,501
JBrowse link
G C3H16orf71 chromosome 3 C16orf71 homolog ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,652,535...37,665,497 JBrowse link
G C3H16orf96 chromosome 3 C16orf96 homolog ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,765,914...37,801,366 JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,815,259...37,839,266
Ensembl chr 3:37,815,370...37,844,608
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,883,233...37,919,141
Ensembl chr 3:37,883,238...37,919,224
JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,998,072...38,018,726
Ensembl chr 3:37,998,068...38,009,024
JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,829,044...37,868,163
Ensembl chr 3:37,831,434...37,868,128
JBrowse link
G LOC100513346 mitochondrial import inner membrane translocase subunit TIM16 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,989,180...38,005,617
JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,689,708...37,748,068
JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,871,868...37,879,373
Ensembl chr 3:37,818,658...37,881,116
JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,684,206...37,694,653
Ensembl chr 3:37,684,207...37,748,039
JBrowse link
G ROGDI rogdi atypical leucine zipper ISO OMIM NCBI chr 3:37,592,982...37,600,004
Ensembl chr 3:37,591,815...37,602,112
JBrowse link
G SEPT12 septin 12 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,604,669...37,617,336
Ensembl chr 3:37,606,277...37,628,920
JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,599,574...37,601,316 JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:38,073,379...38,111,936
Ensembl chr 3:38,073,562...38,111,932
JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:38,043,735...38,060,820
Ensembl chr 3:38,048,128...38,060,819
JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,753,262...37,758,872
Ensembl chr 3:37,753,280...37,758,870
JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,961,425...37,972,477
Ensembl chr 3:37,961,425...37,972,115
JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 3:37,642,424...37,652,378 JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 ISO OMIM NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO OMIM NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO OMIM NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,529
JBrowse link
G FLNB filamin B ISO OMIM NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
lip cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
Lip Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:17238970 RGD:8662391 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:17238970 RGD:8662391 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
Macroglossia