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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 chrNW_004936490:17,735,444...17,801,456 JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936588:2,536,141...2,564,897 JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936500:6,262,207...6,288,833 JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum RGD PMID:21625744 RGD:6482317 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Ddit4 DNA damage inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936521:6,646,864...6,648,982 JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936524:1,599,883...1,611,302 JBrowse link
G Fancg FA complementation group G ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936524:3,103,912...3,110,246 JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:14699553 RGD:10402103 NCBI chrNW_004936710:1,760,365...1,815,269 JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936596:2,854,620...2,857,018 JBrowse link
G Gss glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936561:5,765,637...5,793,951 JBrowse link
G LOC101975674 cytochrome P450 26B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936491:16,010,394...16,028,852 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chrNW_004936481:3,821,564...3,828,086 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 chrNW_004936745:2,067,272...2,067,948 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 chrNW_004936557:5,834,874...5,838,502 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 chrNW_004936578:492,267...705,282 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 chrNW_004936481:711,356...1,067,856 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Ctsc cathepsin C ISO OMIM NCBI chrNW_004936736:1,201,343...1,240,311 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 chrNW_004936557:5,834,874...5,838,502 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 chrNW_004936713:679,680...716,801 JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chrNW_004936662:1,594,953...1,599,625 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 chrNW_004936474:7,209,196...7,229,899 JBrowse link
G Il10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chrNW_004936526:3,102,468...3,147,601 JBrowse link
G Tnf tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chrNW_004936747:1,255,803...1,288,252 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 chrNW_004936470:1,169,906...1,174,166 JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936470:1,048,145...1,501,970 JBrowse link
G Bnc2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936771:747,487...1,036,546 JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936543:7,860,432...7,864,050 JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:30311386 NCBI chrNW_004936490:11,625,862...11,630,035 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 chrNW_004936598:4,118,031...4,132,342 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 chrNW_004936754:596,878...649,585 JBrowse link
G Fam83h family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629, PMID:19407157 NCBI chrNW_004936470:8,413,055...8,418,360 JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chrNW_004936488:18,257,765...18,278,530 JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chrNW_004936599:3,902,903...3,918,471 JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chrNW_004936543:7,900,319...7,922,529 JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chrNW_004936471:15,233,828...15,416,415 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 chrNW_004936551:5,310,426...5,352,883 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 chrNW_004936471:15,233,828...15,416,415 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 chrNW_004936598:400,214...407,597 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 chrNW_004936733:515,546...639,699 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 chrNW_004936488:18,257,765...18,278,530 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 chrNW_004936557:3,429,488...3,487,995 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 chrNW_004936490:11,625,862...11,630,035 JBrowse link
G Enam enamelin ISO OMIM NCBI chrNW_004936598:4,118,031...4,132,342 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 chrNW_004936598:4,118,031...4,132,342 JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936551:5,310,426...5,352,883 JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chrNW_004936471:15,233,828...15,416,415 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 chrNW_004936470:1,169,906...1,174,166 JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, 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 chrNW_004936470:1,048,145...1,501,970 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 chrNW_004936598:4,154,801...4,166,565 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 chrNW_004936541:7,867,856...7,916,145 JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chrNW_004936541:7,845,876...7,863,677 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 chrNW_004936469:18,581,855...18,650,109 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 chrNW_004936889:510,667...515,831 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 chrNW_004936889:583,259...586,412 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 chrNW_004936470:8,413,055...8,418,360 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 chrNW_004936598:4,204,094...4,210,492 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 chrNW_004936498:2,577,389...2,596,690 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 chrNW_004936490:11,625,862...11,630,035 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 chrNW_004936494:9,537,793...9,541,187 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 chrNW_004936525:8,642,744...8,774,975 JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chrNW_004936669:2,474,381...2,613,541 JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chrNW_004936581:4,750,845...4,802,262 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 chrNW_004936578:492,267...705,282 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 chrNW_004936641:569,002...661,935 JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chrNW_004936481:7,694,960...7,908,683 JBrowse link
G LOC101961662 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 chrNW_004936473:2,787,386...2,823,014 JBrowse link
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chrNW_004936595:3,484,323...3,507,227 JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:25741868 NCBI chrNW_004936569:1,930,189...1,949,735 JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chrNW_004936525:4,568,854...4,574,332 JBrowse link
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:28905880, PMID:30311386 NCBI chrNW_004936622:884,324...917,964 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 chrNW_004936801:1,185,615...1,298,416 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 chrNW_004936541:7,155,963...7,242,466 JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chrNW_004936787:307,290...309,963 JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chrNW_004936478:17,129,922...17,403,630 JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chrNW_004936475:7,354,273...7,358,328 JBrowse link
G LOC101956136 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 chrNW_004936777:1,545,293...1,561,109 JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874, PMID:25899461 NCBI chrNW_004936599:3,902,903...3,918,471 JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chrNW_004936551:5,040,084...5,050,384 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chrNW_004936514:7,038,240...7,045,873 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 chrNW_004936477:17,406,551...17,413,615 JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Hypodontia
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar Annotator: match by term: TOOTH AGENESIS, FAMILIAL
ClinVar PMID:12605438, PMID:15615874, PMID:16479262, PMID:19429910, PMID:22581971, PMID:26571067, PMID:28492532, PMID:28847717 NCBI chrNW_004936494:10,657,902...10,673,176 JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970101 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 chrNW_004936663:345,021...355,188 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 chrNW_004936525:8,238,128...8,240,974 JBrowse link
G Il12b interleukin 12B treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chrNW_004936515:4,056,214...4,066,121 JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936668:2,602,261...2,687,903 JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936709:864,206...884,630 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 chrNW_004936538:7,885,816...7,898,308 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 chrNW_004936563:1,713,294...1,732,431 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 chrNW_004936671:1,940,079...1,947,574 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chrNW_004936661:3,742,080...3,758,266 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 chrNW_004936480:18,114,231...18,195,884 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 chrNW_004936520:1,987,989...2,146,473 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 chrNW_004936555:4,285,269...4,307,715 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 chrNW_004936905:458,062...463,359 JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Pitx2 paired like homeodomain 2 ISO OMIM NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chrNW_004936662:388,279...524,803 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 chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Foxe1 forkhead box E1 ISO OMIM NCBI chrNW_004936524:6,619,128...6,620,278 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 chrNW_004936745:2,067,272...2,067,948 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 chrNW_004936664:3,610,004...3,629,850 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 subfamily B member 1 ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chrNW_004936763:1,225,355...1,308,257 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 chrNW_004936807:232,851...262,593 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chrNW_004936546:3,737,908...3,783,492 JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:erythrocyte:
CTD
RGD
PMID:12074830, PMID:17206395 RGD:9068907 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chrNW_004936857:577,067...609,855 JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chrNW_004936631:484,356...489,643 JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chrNW_004936598:1,779,471...1,781,353 JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chrNW_004936523:6,661,119...6,686,988 JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chrNW_004936481:17,114,441...17,178,902 JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chrNW_004936735:209,369...234,582 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 chrNW_004937131:42,523...49,533 JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility
no_association
ISO DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.R241G (human)
RGD
CTD
PMID:8712863, PMID:10792421, PMID:11409120, PMID:12074830, PMID:12808331 RGD:8158115, RGD:8158123, RGD:8547575 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum:
associated with Uveitis; protein:increased expression:aqueous humor:
RGD PMID:2154346, PMID:21334264 RGD:8142356, RGD:8142377 NCBI chrNW_004936545:6,139,130...6,144,543 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 chrNW_004936809:1,280,254...1,306,964 JBrowse link
G Il10 interleukin 10 onset
disease_progression
treatment
susceptibility
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 chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chrNW_004936476:8,621,860...8,625,008 JBrowse link
G Il18 interleukin 18 no_association
susceptibility
ISO DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (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 chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chrNW_004936713:1,038,985...1,075,770 JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chrNW_004936501:11,100,170...11,112,112 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 chrNW_004936591:4,365,598...4,425,053 JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chrNW_004936480:14,320,292...14,417,828 JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chrNW_004936501:12,921,509...12,966,791 JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chrNW_004936778:1,286,475...1,311,184 JBrowse link
G LOC101959667 HLA class II histocompatibility antigen, DM beta chain no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chrNW_004936476:25,846,653...25,852,006 JBrowse link
G LOC101963772 HLA class II histocompatibility antigen, DM alpha chain no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chrNW_004936476:25,836,163...25,840,191 JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chrNW_004936596:177,774...183,186 JBrowse link
G LOC101968921 angiotensin-converting enzyme no_association
susceptibility
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15045629, PMID:15961928 RGD:7829810, RGD:8142349 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chrNW_004936471:33,682,730...33,688,332 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:17949555, PMID:22116092 RGD:8547820, RGD:8657044 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 no_association
susceptibility
ISO DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar Annotator: match by term: Behcet's syndrome
DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
RGD
ClinVar
PMID:15515785, PMID:19748964, PMID:28492532 RGD:13204711, RGD:8158059 NCBI chrNW_004936475:3,708,069...3,742,845 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:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
RGD PMID:11908569, PMID:15705632, PMID:16463158, PMID:21957880 RGD:7771576, RGD:7771577, RGD:7775048, RGD:7775050 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chrNW_004936471:35,272,263...35,294,942 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 chrNW_004936690:2,180,804...2,232,869 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 chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chrNW_004936569:888,309...895,991 JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs744166, rs2293152 (human)
DNA:SNP: :rs2293152 (human)
RGD PMID:22205606, PMID:23127549 RGD:6483021, RGD:8694309 NCBI chrNW_004936490:17,119,189...17,178,402 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 chrNW_004936506:7,091,982...7,185,938 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tlr2 toll like receptor 2 susceptibility
no_association
ISO mRNA:increased expression:intestine:
DNA:SNPs: : rs2289318,rs3804099(human)
DNA:polymorphism: :12408G>A(human)
protein,mRNA:increased expression:peripheral blood mononuclear cell
RGD PMID:18336589, PMID:19796535, PMID:23908180, PMID:24255044 RGD:8552883, RGD:8552885, RGD:8552888, RGD:8552915 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr3 toll like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chrNW_004936554:3,370,766...3,388,125 JBrowse link
G Tlr4 toll like receptor 4 no_association
susceptibility
ISO DNA:polymorphism: :1896A>G,11196C>T(human)
mRNA:increased expression:mononulcear cell:
DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
RGD PMID:18234118, PMID:18336589, PMID:18408113, PMID:19796535 RGD:7777175, RGD:7777176, RGD:8552888, RGD:8552915 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
DNA:SNP:promoter:-308G>A (human)
protein:increased expression:serum
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 chrNW_004936727:1,936,066...1,937,766 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 chrNW_004936709:1,407,327...1,421,448 JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934 RGD:8158077 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chrNW_004936520:10,051,692...10,059,324 JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chrNW_004936709:1,578,137...1,741,877 JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chrNW_004936548:6,936,674...7,171,035 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 chrNW_004936475:18,990,529...19,065,954 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 chrNW_004936581:4,750,845...4,802,262 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 chrNW_004936599:3,902,903...3,918,471 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 chrNW_004936481:14,029,478...14,052,724 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Bruxism ClinVar PMID:15737703, PMID:25741868 NCBI chrNW_004936809:902,938...967,771 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 chrNW_004936646:1,326,900...1,407,236 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 chrNW_004936669:3,404,729...3,413,123 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 chrNW_004936539:395,671...451,611 JBrowse link
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO OMIM NCBI chrNW_004936539:290,429...404,928 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 chrNW_004936648:395,526...546,705 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 NCBI chrNW_004936621:265,834...329,255 JBrowse link
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 chrNW_004936481:711,356...1,067,856 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 chrNW_004936617:4,224,131...4,239,080 JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chrNW_004936469:39,794,613...39,798,448 JBrowse link
G Dsc1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chrNW_004936682:2,013,414...2,040,148 JBrowse link
G Dsg1 desmoglein 1 ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chrNW_004936682:1,854,637...1,889,426 JBrowse link
G Esr1 estrogen receptor 1 no_association ISO DNA:polymorphism RGD PMID:15324358 RGD:10045837 NCBI chrNW_004936489:4,616,839...4,887,179 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 chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il1rl1 interleukin 1 receptor like 1 ISO mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chrNW_004936713:1,020,969...1,035,012 JBrowse link
G Il33 interleukin 33 ISO mRNA, protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chrNW_004936539:763,755...791,461 JBrowse link
G Itgb2 integrin subunit beta 2 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chrNW_004936778:1,286,475...1,311,184 JBrowse link
G Mmp1 matrix metallopeptidase 1 severity
no_association
ISO mRNA:increased expression:gingiva (human)
DNA:insertion:promoter:g.-1607insG (human)
RGD PMID:12622858, PMID:15312099, PMID:22401717 RGD:7206856, RGD:7207045, RGD:7207046 NCBI chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO associated with Atherosclerosis
mRNA:increased expression:gingival tissues
RGD PMID:21382035, PMID:24820783 RGD:13207324, RGD:6480655 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Nes nestin ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chrNW_004936580:5,837,949...5,847,499 JBrowse link
G Rac2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chrNW_004936492:3,726,375...3,737,961 JBrowse link
G Tlr2 toll like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Tlr3 toll like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chrNW_004936554:3,370,766...3,388,125 JBrowse link
G Tlr4 toll like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chrNW_004936747:1,255,803...1,288,252 JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936537:4,886,924...4,940,466 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 chrNW_004936697:1,054,237...1,061,468 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 chrNW_004936475:18,990,529...19,065,954 JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chrNW_004936496:12,381,225...12,505,121 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chrNW_004936581:4,750,845...4,802,262 JBrowse link
G Dnah11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936546:7,370,180...7,681,835 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 chrNW_004936475:18,557,840...18,564,461 JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chrNW_004936504:11,590,687...11,684,410 JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936480:18,114,231...18,195,884 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936662:1,886,176...1,928,998 JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936599:868,634...875,464 JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936471:11,636,733...11,692,782 JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936600:4,004,847...4,010,626 JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936720:282,291...316,629 JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human)
CTD
RGD
PMID:17963255, PMID:24613087 RGD:11567264 NCBI chrNW_004936710:1,760,365...1,815,269 JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936486:10,506,680...10,606,272 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936477:21,591,772...21,606,289 JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chrNW_004936470:46,361,528...46,379,576 JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:12219090, PMID:17041601, PMID:18836445, PMID:20436469 RGD:1600214 NCBI chrNW_004936557:3,292,927...3,309,002 JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chrNW_004936483:15,430,735...15,450,872 JBrowse link
G LOC101971919 S-methylmethionine--homocysteine S-methyltransferase BHMT2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936549:6,900,075...6,914,217 JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chrNW_004936561:1,007,273...1,010,548 JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chrNW_004936477:17,406,551...17,413,615 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 chrNW_004936495:8,100,977...8,170,244 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :c.677C>T(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16470725, PMID:27387868 RGD:11565179 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936471:37,910,856...37,964,655 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936484:16,087,924...16,180,089 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chrNW_004936470:20,480,844...20,485,955 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 chrNW_004936542:4,501,081...4,602,338 JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: : rs227727 (human)
DNA:SNP: :rs227731(human)
RGD PMID:25339627, PMID:25704602 RGD:11251786, RGD:12801482 NCBI chrNW_004936490:6,262,651...6,264,069 JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chrNW_004936595:2,146,371...2,323,346 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 chrNW_004936548:6,936,674...7,171,035 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 chrNW_004936528:2,093,233...2,219,622 JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chrNW_004936487:18,249,472...18,267,875 JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chrNW_004936470:45,967,816...46,074,820 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 chrNW_004936778:823,376...846,843 JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chrNW_004936511:1,452,421...1,458,031 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 chrNW_004936726:1,402,977...1,413,974 JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chrNW_004936904:97,535...113,886 JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chrNW_004936481:19,586,870...19,609,043 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 chrNW_004936578:492,267...705,282 JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936550:33,797...42,233 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 chrNW_004936542:4,501,081...4,602,338 JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chrNW_004936771:747,487...1,036,546 JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:insertion
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9787075 RGD:11576291 NCBI chrNW_004936502:7,933,312...8,281,492 JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chrNW_004936475:17,537,273...17,589,383 JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chrNW_004936636:33,933...78,990 JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chrNW_004936476:25,663,563...25,692,315 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936512:5,861,933...5,894,898 JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chrNW_004936833:551,989...843,064 JBrowse link
G Dnah11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936546:7,370,180...7,681,835 JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936480:18,114,231...18,195,884 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936662:1,886,176...1,928,998 JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936599:868,634...875,464 JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936471:11,636,733...11,692,782 JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936600:4,004,847...4,010,626 JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936720:282,291...316,629 JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936710:1,760,365...1,815,269 JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chrNW_004936486:10,506,680...10,606,272 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004936477:21,591,772...21,606,289 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936809:1,097,288...1,123,206 JBrowse link
G Flnb filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chrNW_004936473:8,268,326...8,413,955 JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chrNW_004936498:14,657,641...14,666,853 JBrowse link
G Gata6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chrNW_004936550:1,814,336...1,844,399 JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chrNW_004936470:46,361,528...46,379,576 JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chrNW_004936478:17,129,922...17,403,630 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 chrNW_004936737:1,518,855...1,554,926 JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chrNW_004936474:9,321,754...9,354,486 JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chrNW_004936506:7,767,126...7,793,111 JBrowse link
G Irf6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism
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
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
CTD
ClinVar
RGD
PMID:12219090, PMID:12920575, PMID:17041601, PMID:20672350, PMID:25741868 RGD:12436724, RGD:1600214 NCBI chrNW_004936557:3,292,927...3,309,002 JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chrNW_004936483:15,430,735...15,450,872 JBrowse link
G LOC101971919 S-methylmethionine--homocysteine S-methyltransferase BHMT2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936549:6,900,075...6,914,217 JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chrNW_004936538:8,439,548...8,456,021 JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations, SNPs:multiple (human)
CTD
RGD
PMID:12163415, PMID:12701100, PMID:12807959, PMID:15301380 RGD:5132609 NCBI chrNW_004936477:17,406,551...17,413,615 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 chrNW_004936495:8,100,977...8,170,244 JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936471:37,910,856...37,964,655 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936484:16,087,924...16,180,089 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chrNW_004936470:20,480,844...20,485,955 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 chrNW_004936542:4,501,081...4,602,338 JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chrNW_004936497:6,106,284...6,318,339 JBrowse link
G Nek9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chrNW_004936488:4,221,099...4,261,401 JBrowse link
G Nfia nuclear factor I A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chrNW_004936522:612,357...1,171,079 JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Pax9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chrNW_004936494:10,657,902...10,673,176 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chrNW_004936482:16,804,129...16,853,539 JBrowse link
G Pitx2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chrNW_004936563:1,713,294...1,732,431 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 chrNW_004936474:27,229,262...27,239,034 JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Rarg retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chrNW_004936512:10,502,954...10,524,796 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 chrNW_004936796:630,307...675,157 JBrowse link
G Ryk receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chrNW_004936529:7,273,070...7,344,372 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 chrNW_004936506:34,968...206,432 JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chrNW_004936470:45,967,816...46,074,820 JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G Shox2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chrNW_004936519:4,810,777...4,818,733 JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936778:823,376...846,843 JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chrNW_004936511:1,452,421...1,458,031 JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chrNW_004936726:1,402,977...1,413,974 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 chrNW_004936547:1,645,118...1,654,332 JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chrNW_004936498:7,145,510...7,868,792 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chrNW_004936628:310,720...394,002 JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7493022, PMID:17097601, PMID:26971374 RGD:12801424 NCBI chrNW_004936488:4,986,712...5,008,728 JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chrNW_004936473:21,324,669...21,409,430 JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chrNW_004936481:19,586,870...19,609,043 JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chrNW_004936578:492,267...705,282 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 chrNW_004936474:27,221,691...27,227,226 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936509:7,733,426...7,999,503 JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004936550:33,797...42,233 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 chrNW_004936547:1,645,118...1,654,332 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 chrNW_004936471:800,510...1,006,054 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 chrNW_004936474:8,262,913...8,319,089 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 chrNW_004936496:12,381,225...12,505,121 JBrowse link
G Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chrNW_004936519:9,053,192...9,139,221 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 chrNW_004936476:14,695,965...14,818,246 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 chrNW_004936588:3,265,344...3,287,035 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 chrNW_004936599:868,634...875,464 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 chrNW_004936491:8,238,644...8,749,172 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 chrNW_004936481:14,029,478...14,052,724 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 chrNW_004936537:1,660,461...2,439,305 JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:30311386 NCBI chrNW_004936546:5,331,220...5,332,669 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 chrNW_004936837:380,880...384,752 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 chrNW_004936517:9,872,018...10,027,283 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 chrNW_004936524:2,732,477...2,743,044 JBrowse link
dental caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO DNA:SNP: :rs1143627C>T (human) RGD PMID:30803280 RGD:14975276 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
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 chrNW_004936607:3,576,357...3,632,423 JBrowse link
G Fis1 fission, mitochondrial 1 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:24958380 RGD:12437081 NCBI chrNW_004936543:1,112,746...1,116,521 JBrowse link
G Mfn1 mitofusin 1 ISO mRNA, protein:decreased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chrNW_004936566:3,737,315...3,775,894 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 chrNW_004936905:458,062...463,359 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 chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chrNW_004936480:17,051,902...17,416,335 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 chrNW_004936588:202,101...209,255 JBrowse link
G Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chrNW_004936580:4,760,289...4,770,571 JBrowse link
G LOC101956249 optineurin ISO mRNA:increased expression:dental pulp (rat) RGD PMID:16109995 RGD:7775038 NCBI chrNW_004936862:488,591...516,819 JBrowse link
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 chrNW_004936905:458,062...463,359 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 chrNW_004936489:17,454,274...17,594,894 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 chrNW_004936905:458,062...463,359 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 chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:26788535 NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Dspp dentin sialophosphoprotein ISO OMIM NCBI chrNW_004936905:458,062...463,359 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 chrNW_004936905:458,062...463,359 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 chrNW_004936534:5,029,008...5,076,467 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 chrNW_004936626:802,415...1,141,260 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 chrNW_004936521:1,570,863...1,613,410 JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chrNW_004936492:8,415,997...8,544,149 JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004936635:1,303,855...1,335,766 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 chrNW_004936829:429,667...458,943 JBrowse link
G LOC101956136 ectodysplasin-A ISO OMIM NCBI chrNW_004936777:1,545,293...1,561,109 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 chrNW_004936569:1,309,140...1,321,923 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 chrNW_004936829:429,667...458,943 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 chrNW_004936484:16,394,753...16,446,102 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 chrNW_004936829:335,977...397,252 JBrowse link
G Edar ectodysplasin A receptor ISO OMIM NCBI chrNW_004936829:429,667...458,943 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 chrNW_004936484:16,394,753...16,446,102 JBrowse link
G LOC101974817 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chrNW_004936829:261,017...333,910 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 chrNW_004936484:16,394,753...16,446,102 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 chrNW_004936484:16,394,753...16,446,102 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 chrNW_004936474:11,341,415...11,351,066 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 chrNW_004936599:3,541,359...3,543,206 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 chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM NCBI chrNW_004936809:1,280,254...1,306,964 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 chrNW_004936578:492,267...705,282 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 DNA:frameshift mutation, missense mutations:exon:multiple
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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 chrNW_004936578:492,267...705,282 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 chrNW_004936709:709,001...719,758 JBrowse link
G C1s complement C1s ISO OMIM NCBI chrNW_004936709:731,211...742,583 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 chrNW_004936599:4,910,783...4,917,355 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 chrNW_004936672:3,461,387...3,468,053 JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:9813301 RGD:10047413 NCBI chrNW_004936509:4,729,984...4,826,367 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chrNW_004936596:223,660...224,739 JBrowse link
G Cd59 CD59 molecule (CD59 blood group) ISO mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chrNW_004936533:4,242,589...4,263,136 JBrowse link
G Csf1 colony stimulating factor 1 ISO protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chrNW_004936704:1,372,137...1,393,355 JBrowse link
G Ctss cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chrNW_004936580:963,176...991,732 JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chrNW_004936486:6,066,108...6,262,055 JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21562589 RGD:8548634 NCBI chrNW_004936734:354,798...428,356 JBrowse link
G Mt3 metallothionein 3 treatment ISO RGD PMID:14625437 RGD:9685806 NCBI chrNW_004936475:8,864,512...8,866,516 JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 ISO mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chrNW_004936605:1,915,246...1,928,853 JBrowse link
G Ret ret proto-oncogene ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chrNW_004936617:2,927,185...2,980,594 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 chrNW_004936626:192,191...204,827 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 chrNW_004936481:14,029,478...14,052,724 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 chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Facial paralysis ClinVar PMID:30311386 NCBI chrNW_004936694:1,923,383...1,958,160 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chrNW_004936493:7,060,747...7,065,276 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 chrNW_004936560:5,124,955...5,138,988 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 chrNW_004936507:2,775,752...2,797,065 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 chrNW_004936541:8,467,035...8,549,893 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 chrNW_004936508:12,162,553...12,281,812 JBrowse link
G Znf862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chrNW_004936527:5,883,034...5,915,132 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 chrNW_004936482:19,018,454...19,040,438 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO OMIM NCBI chrNW_004936508:12,162,553...12,281,812 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 chrNW_004936482:19,018,454...19,040,438 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 chrNW_004936508:8,093,804...8,117,467 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 chrNW_004936500:976,043...1,003,559 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 chrNW_004936471:11,636,733...11,692,782 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chrNW_004936492:2,353,840...2,368,573 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 chrNW_004936617:2,927,185...2,980,594 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 chrNW_004936749:1,936,307...2,014,452 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 chrNW_004936617:2,927,185...2,980,594 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 chrNW_004936617:2,927,185...2,980,594 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 chrNW_004936567:1,271,401...1,282,651 JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chrNW_004936474:814,510...889,851 JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Scleroderma, Systemic;protein:decreased expression:gingiva: RGD PMID:18206400 RGD:7421591 NCBI chrNW_004936476:16,245,134...16,261,180 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 chrNW_004936491:13,288,986...13,516,878 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 chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO OMIM NCBI chrNW_004936803:1,291,867...1,340,123 JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936476:16,948,137...16,963,601 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 chrNW_004936472:14,205,311...14,308,932 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 chrNW_004936490:12,853,983...12,855,428 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 chrNW_004936490:12,853,983...12,855,428 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 chrNW_004936710:1,760,365...1,815,269 JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004936635:1,303,855...1,335,766 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 chrNW_004936829:429,667...458,943 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 chrNW_004936484:16,394,753...16,446,102 JBrowse link
G LOC101956136 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 chrNW_004936777:1,545,293...1,561,109 JBrowse link
G LOC101974817 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chrNW_004936829:261,017...333,910 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 chrNW_004936569:1,309,140...1,321,923 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 chrNW_004936480:17,051,902...17,416,335 JBrowse link
G Polr3a RNA polymerase III subunit A ISO OMIM NCBI chrNW_004936521:1,570,863...1,613,410 JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD
ClinVar
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chrNW_004936492:8,415,997...8,544,149 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 chrNW_004936521:1,562,013...1,568,280 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 chrNW_004936477:22,032,712...22,055,160 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 chrNW_004936482:16,804,129...16,853,539 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 chrNW_004936506:34,968...206,432 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 chrNW_004936744:715,523...754,148 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 chrNW_004936641:569,002...661,935 JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chrNW_004936521:4,309,699...4,497,755 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 chrNW_004936641:887,034...889,435 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 chrNW_004936736:1,201,343...1,240,311 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 chrNW_004936485:12,985,552...13,016,997 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 chrNW_004936512:5,861,933...5,894,898 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 chrNW_004936694:336,269...449,490 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 chrNW_004936530:4,698,234...4,723,131 JBrowse link
G Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,559,062...4,578,896 JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:552,447...663,237 JBrowse link
G CUNH16orf71 chromosome unknown C16orf71 homolog ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,725,294...4,738,515 JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,599,136...4,637,123 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 chrNW_004936694:43,898...74,939 JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:161,419...168,012 JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,556,617...4,558,250 JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,647,550...4,693,143 JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:33,738...40,716 JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:153,958...161,635 JBrowse link
G Rogdi rogdi atypical leucine zipper ISO OMIM NCBI chrNW_004936530:4,756,069...4,761,484 JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,744,772...4,750,495 JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,754,946...4,755,830 JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:224,023...275,069 JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:210,863...222,531 JBrowse link
G Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,641,859...4,647,264 JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:128,398...138,954 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 chrNW_004936480:18,114,231...18,195,884 JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO OMIM NCBI chrNW_004936486:10,506,680...10,606,272 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO OMIM NCBI chrNW_004936477:21,591,772...21,606,289 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 chrNW_004936521:6,864,456...6,900,122 JBrowse link
G Flnb filamin B ISO OMIM NCBI chrNW_004936473:8,268,326...8,413,955 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 chrNW_004936557:5,834,874...5,838,502 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 chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:17238970 RGD:8662391 NCBI chrNW_004936595:919,807...935,367 JBrowse link
Macroglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:30311386 NCBI chrNW_004936476:15,772,203...15,784,316 JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:30311386 NCBI chrNW_004936509:4,507,042...4,677,681 JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chrNW_004936481:14,029,478...14,052,724 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: 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 chrNW_004936537:1,660,461...2,439,305 JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:30311386 NCBI chrNW_004936470:28,303,213...28,566,470 JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:30311386 NCBI chrNW_004936889:121,724...184,374 JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:30311386 NCBI chrNW_004936751:850,630...935,382 JBrowse link
G Prrt2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:30311386 NCBI chrNW_004936501:12,660,181...12,663,788 JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:30311386 NCBI chrNW_004936644:1,328,327...1,395,856 JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:30311386 NCBI chrNW_004936546:5,331,220...5,332,669 JBrowse link
Macrostomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chrNW_004936676:1,870,856...2,138,832 JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Macrostomia ClinVar PMID:10521290, PMID:11349231, PMID:16126423, PMID:19744920, PMID:21245028, PMID:23146215, PMID:26981555, PMID:30311386 NCBI chrNW_004936550:2,983,172...3,032,222 JBrowse link
Malocclusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Malocclusion ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936525:905,419...983,486 JBrowse link
G Igf1 insulin like growth factor 1 disease_progression ISO RGD PMID:22758598 RGD:10045831 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO RGD PMID:22758598 RGD:10045831 NCBI chrNW_004936483:4,563,995...4,860,231 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:22758598 RGD:10045831 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO protein:increased expression:hippocampus (rat) RGD PMID:21751079 RGD:5686299 NCBI chrNW_004936504:10,960,069...11,056,834 JBrowse link
Microstomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Microstomia ClinVar PMID:1522835, PMID:7564788, PMID:7647779, PMID:7741859, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10732818, PMID:10869114, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28696419, PMID:29683944, PMID:30311386 NCBI chrNW_004936474:623,438...637,849 JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar NCBI chrNW_004936478:3,721,662...3,724,471 JBrowse link
G Hoxa2 homeobox A2 ISO OMIM NCBI chrNW_004936478:3,729,079...3,731,353 JBrowse link
Mobius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chrNW_004936572:1,978,642...1,999,411 JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar PMID:25741868 NCBI chrNW_004936588:1,342,791...1,345,746 JBrowse link
G Bcdin3d BCDIN3 domain containing RNA methyltransferase ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 NCBI chrNW_004936512:7,516,324...7,521,063 JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chrNW_004936475:15,513,402...15,662,330 JBrowse link
G Ebf3 EBF transcription factor 3