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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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr20:55,248,286...55,276,425
Ensembl chr20:55,248,288...55,276,900
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum RGD PMID:21625744 RGD:6482317 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894
JBrowse link
G DDIT4 DNA damage inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 4:22,916,718...22,918,893
Ensembl chr 4:22,916,096...22,964,035
JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr11:50,156,089...50,168,379
Ensembl chr11:50,156,089...50,167,536
JBrowse link
G FANCG FA complementation group G ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:14699553 RGD:10402103 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr20:44,633,131...44,636,842
Ensembl chr20:44,634,588...44,636,821
JBrowse link
G GSS glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G S100A12 S100 calcium binding protein A12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 7:43,554,078...43,555,470
Ensembl chr 7:43,554,146...43,555,475
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 chr25:49,165,450...49,216,545
Ensembl chr25:49,165,641...49,166,123
JBrowse link
Actinic Cheilitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CTSC cathepsin C ISO OMIM NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816
JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-592C>A (rs1800872) (human)
protien:decreased expression:plasma
RGD PMID:28662328, PMID:28868949 RGD:14975139, RGD:14975264 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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 chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G IL10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645
JBrowse link
amelogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta RGD
ClinVar
PMID:8406474 RGD:1300370 NCBI chr  X:7,822,513...7,828,692
Ensembl chr  X:7,822,859...7,830,351
JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:7,704,838...8,188,358
Ensembl chr  X:7,706,156...7,951,557
JBrowse link
G BNC2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679
JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:581,276...585,367
Ensembl chr 6:581,280...585,301
JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:30311386 NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
JBrowse link
G ENAM enamelin IEA Amelogenesis imperfecta, ENAM-related OMIA PMID:23638899, PMID:29201383 NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IEA Dental hypomineralization OMIA PMID:27187611, PMID:27803843 NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752
JBrowse link
G FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629, PMID:19407157 NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834
JBrowse link
G GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
JBrowse link
G PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874
JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP20 matrix metallopeptidase 20 ISO OMIM NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071
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 chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874
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 chr32:133,974...141,303 JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC24A4 solute carrier family 24 member 4 ISO OMIM NCBI chr 8:1,570,833...1,685,135
Ensembl chr 8:1,517,560...1,680,208
JBrowse link
Amelogenesis Imperfecta Hypomaturation Type, 2A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR68 G protein-coupled receptor 68 ISO OMIM NCBI chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217
JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMB3 laminin subunit beta 3 ISO OMIM NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474
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 chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
JBrowse link
G ENAM enamelin ISO OMIM NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949
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 chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949
JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874
JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMELX amelogenin X-linked ISO OMIM NCBI chr  X:7,822,513...7,828,692
Ensembl chr  X:7,822,859...7,830,351
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 chr  X:7,704,838...8,188,358
Ensembl chr  X:7,706,156...7,951,557
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 chr13:59,899,968...59,912,699
Ensembl chr13:59,899,960...59,912,655
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 chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683
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 chr36:5,833,206...5,962,699
Ensembl chr36:5,834,638...5,962,633
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
IEA
Amelogenesis imperfecta, ACP4-related OMIM
OMIA
NCBI chr 1:106,051,901...106,056,137
Ensembl chr 1:106,051,901...106,056,137
JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLK4 kallikrein related peptidase 4 ISO OMIM NCBI chr 1:105,950,948...105,955,464
Ensembl chr 1:105,951,691...106,007,581
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 chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834
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 chr13:59,855,278...59,867,133
Ensembl chr13:59,852,490...59,867,516
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 chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023
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 chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFKBIA NFKB inhibitor alpha ISO OMIM NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
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 chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077
JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:9654207, PMID:10400129, PMID:10801053, PMID:12227467, PMID:14707518, PMID:15776412, PMID:20224900, PMID:22698809, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456
JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 7:14,892,165...15,267,418
Ensembl chr 7:14,707,801...15,267,422
JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 5:34,914,797...34,938,263
Ensembl chr 5:34,914,918...34,936,617
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:25741868 NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488
JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr25:44,157,247...44,165,625
Ensembl chr25:44,160,615...44,165,625
JBrowse link
G RARS1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:28905880, PMID:30311386 NCBI chr 4:43,237,499...43,260,738
Ensembl chr 4:43,237,499...43,260,677
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
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 chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr26:35,697,428...35,701,596
Ensembl chr26:35,697,618...35,701,496
JBrowse link
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypodontia
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar PMID:11295832, PMID:12949972, PMID:19278982, PMID:19623212, PMID:19921643, PMID:21357618, PMID:21457804, PMID:22350046, PMID:23553579, PMID:24033266, PMID:24487376, PMID:24664614, PMID:25741868, PMID:26325558, PMID:26345974, PMID:26753551, PMID:27144394, PMID:28492532 NCBI chr  X:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
JBrowse link
G GLI3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
JBrowse link
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 2:60,957,353...60,978,782
Ensembl chr 2:60,968,193...61,041,385
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874, PMID:25899461 NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
autosomal dominant hypodontia, HYD1, OMIM:106600
CTD
RGD
PMID:8696335 RGD:1600484 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar Annotator: match by term: Hypodontia
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 chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 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 chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
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 chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G IL12B interleukin 12B treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr37:7,010,421...7,025,912 JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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 chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
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 chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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 chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819
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 chr32:11,017,440...11,022,780 JBrowse link
Axenfeld-Rieger syndrome type 1 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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
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 chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G FOXE1 forkhead box E1 ISO OMIM NCBI chr11:55,143,389...55,145,954 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 chr25:49,165,450...49,216,545
Ensembl chr25:49,165,641...49,166,123
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO OMIM NCBI chr 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032
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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ACE angiotensin I converting enzyme susceptibility
no_association
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15045629, PMID:15961928 RGD:7829810, RGD:8142349 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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 chr27:44,883,573...44,912,930
Ensembl chr27:44,884,882...44,912,850
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
JBrowse link
G APOA1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G B9D2 B9 domain containing 2 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CAT catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12074830, PMID:17206395 RGD:9068907 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)
RGD PMID:12712358, PMID:19782713 RGD:8548882, RGD:8549488 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD PMID:15009175, PMID:15501397, PMID:17067435 RGD:4892106, RGD:8551814, RGD:8551827 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CFB complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G DLA-64 MHC class I DLA-64 disease_progression ISO DNA:polymorphism:cds:HLA-B*51 (human)
DNA:polymorphism:cds:HLA-B*15 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*51 (human, Turkish)
RGD
CTD
PMID:11426025, PMID:12622781, PMID:16101830, PMID:20622878, PMID:23396137 RGD:7364873, RGD:7364918, RGD:7364939 NCBI chr12:983,573...986,969 JBrowse link
G DLA-DMA major histocompatibility complex, class II, DM alpha no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr12:2,516,974...2,534,085
Ensembl chr12:2,503,325...2,533,990
JBrowse link
G DLA-DMB major histocompatibility complex, class II, DM beta no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr12:2,503,325...2,508,380
Ensembl chr12:2,503,325...2,533,990
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility
no_association
ISO DNA:polymorphism: :p.K469E (human)
DNA:SNP:exon:p.R241G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8712863, PMID:10792421, PMID:11409120, PMID:12074830, PMID:12808331 RGD:8158115, RGD:8158123, RGD:8547575 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNG interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:2154346, PMID:21334264 RGD:8142356, RGD:8142377 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
JBrowse link
G IL10 interleukin 10 susceptibility
treatment
disease_progression
onset
ISO DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, serum
RGD
CTD
PMID:15980236, PMID:20622878, PMID:20622879, PMID:21506890, PMID:26654556, PMID:29294320, PMID:29719061 RGD:14975131, RGD:14975149, RGD:14975256, RGD:1598628, RGD:7364843 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL18 interleukin 18 no_association
susceptibility
ISO DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
RGD PMID:14727452, PMID:15234532, PMID:16273766, PMID:17055358, PMID:21532063 RGD:4889844, RGD:8655897, RGD:8655910, RGD:8655926, RGD:8655927 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr10:40,614,336...40,653,300
Ensembl chr10:40,615,312...40,653,454
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
JBrowse link
G IL23R interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:20375120, PMID:22483685 RGD:8549550, RGD:8549565 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
JBrowse link
G IL4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983
JBrowse link
G ITGAL integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 6:17,605,611...17,645,134
Ensembl chr 6:17,605,760...17,644,986
JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
JBrowse link
G LOC100683403 NKG2-A/NKG2-B type II integral membrane protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr27:35,307,892...35,374,397 JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MBL2 mannose binding lectin 2 severity
susceptibility
ISO protein:decreased secretion:serum (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:15693089, PMID:15730518 RGD:1582154, RGD:1582155 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:27156371, PMID:30366049 RGD:21409751, RGD:25671481 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:17949555, PMID:22116092 RGD:8547820, RGD:8657044 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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 chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
JBrowse link
G NOS3 nitric oxide synthase 3 no_association
susceptibility
ISO DNA:snp:cds:p.E298D
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
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 chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chr30:39,270,852...39,309,507
Ensembl chr30:39,270,919...39,308,108
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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12074830, PMID:18341631 RGD:8547693 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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 chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs7574865 (human)
RGD
CTD
PMID:20438790, PMID:23001997, PMID:23291587 RGD:8661713, RGD:8661718 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TLR2 toll like receptor 2 no_association
susceptibility
ISO mRNA:increased expression:intestine:
protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:18336589, PMID:19796535, PMID:23908180, PMID:24255044 RGD:8552883, RGD:8552885, RGD:8552888, RGD:8552915 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR3 toll like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association
ISO DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
mRNA:increased expression:mononulcear cell:
RGD PMID:18234118, PMID:18336589, PMID:18408113, PMID:19796535 RGD:7777175, RGD:7777176, RGD:8552888, RGD:8552915 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor no_association ISO protein:increased expression:serum
DNA:SNP:promoter
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
DNA:SNP:promoter:-308G>A (human)
RGD PMID:12632436, PMID:12770792, PMID:14600787, PMID:15875188, PMID:20601837, PMID:21334264 RGD:12904036, RGD:12904040, RGD:12904048, RGD:7394759, RGD:7401213, RGD:8142356 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNP: :rs1544410 (human)
DNA:SNP:exon:rs2228570 (human)
RGD PMID:21820934 RGD:8158077 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VIM vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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 chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987
JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 ISO OMIM NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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 chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
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 chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
JBrowse link
bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Teeth grinding ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Bruxism ClinVar PMID:15737703, PMID:25741868 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994
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 chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor ISO OMIM NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMP1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435, PMID:31932796 NCBI chr 1:93,845,874...94,008,266
Ensembl chr 1:93,846,269...93,957,359
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 ISO OMIM NCBI chr 1:93,735,158...93,843,331
Ensembl chr 1:93,735,077...93,841,401
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 chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653
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 chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263
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 chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL7 C-C motif chemokine ligand 7 disease_progression ISO protein:increased expression:gingival crevicular fluid, gingvia RGD PMID:20151806 RGD:6483776 NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:gingival tissues
CTD
RGD
PMID:20731768, PMID:21382035 RGD:6480655 NCBI chr28:2,895,916...2,903,543 JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
JBrowse link
G DSC1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 7:58,322,959...58,350,092
Ensembl chr 7:58,322,959...58,457,978
JBrowse link
G DSG1 desmoglein 1 ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708
JBrowse link
G ESR1 estrogen receptor 1 no_association ISO DNA:polymorphism RGD PMID:15324358 RGD:10045837 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G IL10 interleukin 10 ISO DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) RGD PMID:31055876 RGD:14975127 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
JBrowse link
G IL33 interleukin 33 ISO mRNA, protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
JBrowse link
G ITGB2 integrin subunit beta 2 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
JBrowse link
G MIR155 microRNA mir-155 treatment ISO RGD PMID:29517812 RGD:21403685 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MMP1 matrix metallopeptidase 1 severity
no_association
ISO DNA:insertion:promoter:g.-1607insG (human)
mRNA:increased expression:gingiva (human)
RGD PMID:12622858, PMID:15312099, PMID:22401717 RGD:7206856, RGD:7207045, RGD:7207046 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO mRNA:increased expression:gingival tissues
associated with Atherosclerosis
RGD PMID:21382035, PMID:24820783 RGD:13207324, RGD:6480655 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NES nestin ISO mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736
JBrowse link
G RAC2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr10:27,295,597...27,311,864
Ensembl chr10:27,295,640...27,311,397
JBrowse link
G TLR2 toll like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR3 toll like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR4 toll like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR9 toll like receptor 9 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 IEA Cleft lip with or without cleft palate OMIA PMID:13875838, PMID:19115787, PMID:25798845, PMID:28738009 NCBI chr27:10,492,587...10,655,681
Ensembl chr27:10,492,301...10,675,655
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 6:54,964,666...55,027,471
Ensembl chr 6:54,959,542...55,024,104
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:polymorphism:cds:p.V152A(human)
RGD
ClinVar
PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868 RGD:13442495, RGD:13442497 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CDH1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
RGD
ClinVar
PMID:15831593, PMID:25741868, PMID:28492532, PMID:29805042 RGD:1599548 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:35,468,080...35,784,621
Ensembl chr14:35,468,154...35,784,806
JBrowse link
G ESRP2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 5:81,287,330...81,297,533
Ensembl chr 5:81,287,425...81,295,353
JBrowse link
G FGF1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619
JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17963255, PMID:24613087 RGD:11567264 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
JBrowse link
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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 chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661
JBrowse link
G KIF7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948
JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 no_association
susceptibility
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183, PMID:25129243 RGD:12910961, RGD:12910962 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453
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 chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:57,480,935...57,514,836 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
JBrowse link
G NOG noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:11251786, RGD:12801482 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899
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 chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987
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 chr21:39,426,313...39,564,683
Ensembl chr21:39,427,401...39,645,585
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,939,498...41,026,694
Ensembl chr29:40,939,257...41,024,357
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 chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878
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 chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283
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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO OMIM NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960
JBrowse link
G BNC2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679
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 chr  X:35,939,117...36,296,438
Ensembl chr  X:35,940,647...36,297,014
JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 5:82,253,496...82,313,765
Ensembl chr 5:82,255,617...82,313,168
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512
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 chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:35,468,080...35,784,621
Ensembl chr14:35,468,154...35,784,806
JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
G FLNB filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923
JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496
JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr37:975,286...987,570
Ensembl chr37:976,559...985,772
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 palate
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
RGD
ClinVar
CTD
PMID:12219090, PMID:12920575, PMID:17041601, PMID:20672350, PMID:25741868 RGD:12436724, RGD:1600214 NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr 9:46,466,879...46,482,467
Ensembl chr 9:46,469,426...46,482,705
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 chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:57,480,935...57,514,836 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 8:48,180,203...48,218,430
Ensembl chr 8:48,183,071...48,257,646
JBrowse link
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 5:48,489,521...49,064,867
Ensembl chr 5:48,496,773...49,064,848
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G RARG retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr27:1,958,432...1,978,471
Ensembl chr27:1,958,204...1,978,476
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 chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151
JBrowse link
G RYK receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr23:30,968,105...31,051,353
Ensembl chr23:30,968,231...31,051,605
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 chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149
JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,939,498...41,026,694
Ensembl chr29:40,939,257...41,024,357
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G SHOX2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr23:51,484,696...51,492,586
Ensembl chr23:51,484,421...51,492,566
JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr31:31,879,483...31,929,531
Ensembl chr31:31,879,360...31,930,359
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754
JBrowse link
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr21:17,819,846...20,234,096
Ensembl chr21:19,732,991...20,230,305
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:7493022, PMID:17097601, PMID:26971374 RGD:12801424 NCBI chr 8:48,920,874...48,946,037
Ensembl chr 8:48,923,423...48,945,816
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
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 chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335
JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM1A lysine demethylase 1A ISO OMIM NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632
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 chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807
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 chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
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 chr20:54,312,678...54,334,142
Ensembl chr20:54,312,678...54,334,141
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 chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
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 chr10:62,894,818...63,316,555
Ensembl chr10:62,877,527...63,316,345
JBrowse link
Congenital Macroglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
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 chr12:512,738...517,154 JBrowse link
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 ISO OMIM NCBI chr 7:54,845,121...55,003,372
Ensembl chr 7:54,847,522...55,001,836
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 chr11:51,324,915...51,341,981 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 chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain ISO RGD PMID:29594988 RGD:14928324 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
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 chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957
JBrowse link
G FIS1 fission, mitochondrial 1 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:24958380 RGD:12437081 NCBI chr 6:8,642,014...8,645,812
Ensembl chr 6:8,642,039...8,648,851
JBrowse link
G MFN1 mitofusin 1 ISO mRNA, protein:decreased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr34:12,785,799...12,816,881
Ensembl chr34:12,785,856...12,815,994
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 chr32:11,017,440...11,022,780 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:periodontal ligament (rat)
mRNA:increased expression:thalamus (rat)
RGD PMID:20113783, PMID:20171363 RGD:4892210, RGD:4892246 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
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 chr20:57,920,089...57,941,057
Ensembl chr20:57,920,740...57,938,374
JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595
JBrowse link
G OPTN optineurin ISO mRNA:increased expression:dental pulp (rat) RGD PMID:16109995 RGD:7775038 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:brain, astrocyte RGD PMID:20043976 RGD:5508788 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
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 chr32:11,017,440...11,022,780 JBrowse link
Dentin Dysplasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMOC2 SPARC related modular calcium binding 2 ISO OMIM NCBI chr 1:55,826,354...55,986,053
Ensembl chr 1:55,825,666...55,986,052
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 chr32:11,017,440...11,022,780 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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:26788535 NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G DSPP dentin sialophosphoprotein ISO OMIM NCBI chr32:11,017,440...11,022,780 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 chr32:11,017,440...11,022,780 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 chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723
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 chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO OMIM NCBI chr  X:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
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 chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
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 chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
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 chr10:34,976,341...35,086,080
Ensembl chr10:34,976,670...35,086,297
JBrowse link
G EDAR ectodysplasin A receptor ISO OMIM NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
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 chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
JBrowse link
G LOC474539 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
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 chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
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 chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDF1 keratinocyte differentiation factor 1 ISO OMIM NCBI chr 2:73,198,278...73,206,691
Ensembl chr 2:73,197,580...73,207,153
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 chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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:missense mutation:exon:p.A346G (c.1037C>G) (human)
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.R318H (mouse)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutations: :multiple
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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557
JBrowse link
G C1S complement C1s ISO OMIM NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575
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 chr18:52,767,151...52,775,053
Ensembl chr18:52,767,414...52,773,369
JBrowse link
Facial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:19427307 RGD:2325258 NCBI chr 7:67,682,421...67,691,035 JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:9813301 RGD:10047413 NCBI chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
JBrowse link
G CD59 CD59 molecule ISO mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329
JBrowse link
G CSF1 colony stimulating factor 1 ISO protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CTSS cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr28:26,707,592...26,910,029
Ensembl chr28:26,709,645...26,909,992
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:21562589 RGD:8548634 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 ISO mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr14:11,995,862...12,008,257 JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
JBrowse link
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB6 tubulin beta 6 class V ISO OMIM NCBI chr 7:77,728,876...77,746,759
Ensembl chr 7:77,728,180...77,749,270
JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Facial palsy ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
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 chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Facial paralysis ClinVar PMID:30311386 NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFAIP3 TNF alpha induced protein 3 ISO OMIM NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
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 chr15:26,838,615...26,858,786
Ensembl chr15:26,834,670...26,858,803
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 chr 9:15,708,070...15,781,100
Ensembl chr 9:15,420,835...15,783,045
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 chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
JBrowse link
G ZNF862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr16:14,604,106...14,641,952
Ensembl chr16:14,604,288...14,639,077
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 chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO OMIM NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
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 chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388
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 chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773
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 chr31:37,230,900...37,247,170 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 chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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 chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
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 chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
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 chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
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 chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
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 chr38:102,106...112,267
Ensembl chr38:103,230...112,154
JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) RGD PMID:19186972 RGD:2307265 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Scleroderma, Systemic;protein:decreased expression:gingiva: RGD PMID:18206400 RGD:7421591 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127
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 chr14:18,043,857...18,054,340
Ensembl chr14:18,043,671...18,052,979
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 ISO OMIM NCBI chr14:18,073,759...18,144,489
Ensembl chr14:18,073,758...18,143,152
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929
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 chr22:46,098,671...46,225,239
Ensembl chr22:46,098,933...46,225,153
JBrowse link
Hemifacial Spasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 ISO RGD PMID:30684712 RGD:14975126 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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 chr 9:24,791,848...24,795,443
Ensembl chr 9:24,792,889...24,794,302
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 chr 9:24,791,848...24,795,443
Ensembl chr 9:24,792,889...24,794,302
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 chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia RGD
ClinVar
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:31028034 RGD:14398763 NCBI chr  X:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
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 chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
JBrowse link
G LOC474539 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
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 chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
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 chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
JBrowse link
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar PMID:25741868, PMID:27029625 NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTBP1 C-terminal binding protein 1 ISO OMIM NCBI chr 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656
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 chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
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 chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149
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 chr10:45,157,418...45,197,323
Ensembl chr10:45,138,538...45,197,244
JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain 11 ISO OMIM NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825
JBrowse link
G TRAPPC2L trafficking protein particle complex 2 like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149, PMID:26467025, PMID:28492532 NCBI chr 5:64,529,186...64,534,090
Ensembl chr 5:64,530,746...64,534,035
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 chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816
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 chr24:15,748,632...15,785,025
Ensembl chr24:15,748,629...15,782,880
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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:37,213,251...37,334,820
Ensembl chr 6:37,213,227...37,331,563
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807
JBrowse link
G C6H16orf71 chromosome 6 C16orf71 homolog ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,665,193...36,678,860
Ensembl chr 6:36,665,455...36,678,680
JBrowse link
G C6H16orf96 chromosome 6 C16orf96 homolog ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,793,546...36,838,116
Ensembl chr 6:36,795,470...36,837,972
JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,854,124...36,880,231
Ensembl chr 6:36,854,141...36,880,230
JBrowse link
G CORO7 coronin 7 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,980,302...37,038,210 JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,921,941...36,967,718
Ensembl chr 6:36,917,858...36,967,689
JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:37,048,380...37,069,740
Ensembl chr 6:37,048,367...37,088,880
JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,881,073...36,898,062
Ensembl chr 6:36,881,506...36,898,042
JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,716,071...36,775,893
Ensembl chr 6:36,716,343...36,769,417
JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,918,303...36,927,581
Ensembl chr 6:36,916,787...36,927,578
JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,711,351...36,713,931
Ensembl chr 6:36,711,671...36,713,896
JBrowse link
G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:37,040,484...37,047,708 JBrowse link
G ROGDI rogdi atypical leucine zipper ISO OMIM NCBI chr 6:36,618,670...36,624,533
Ensembl chr 6:36,491,561...36,624,532
JBrowse link
G SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,630,038...36,641,920
Ensembl chr 6:36,630,117...36,641,924
JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,624,080...36,625,631
Ensembl chr 6:36,624,992...36,625,505
JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:37,113,398...37,163,133
Ensembl chr 6:37,124,499...37,160,955
JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:37,075,462...37,111,039
Ensembl chr 6:37,097,786...37,111,072
JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,783,875...36,794,526
Ensembl chr 6:36,786,762...36,787,452
JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:37,014,704...37,025,734
Ensembl chr 6:37,015,333...37,017,351
JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Kohlschutter's syndrome ClinVar PMID:28492532 NCBI chr 6:36,646,310...36,663,266
Ensembl chr 6:36,654,503...36,663,280
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 chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO OMIM NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO OMIM NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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 chr 4:22,668,430...22,699,157
Ensembl chr 4:22,691,336...22,694,254
JBrowse link
G FLNB filamin B ISO OMIM NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
JBrowse link
lip cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
Lip Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD R