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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 breast cancer 1, early onset ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Chaf1a chromatin assembly factor 1, subunit A (p150) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr17:56,040,416...56,068,026
Ensembl chr17:56,040,439...56,072,289
JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B (p60) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr16:93,883,900...93,906,115
Ensembl chr16:93,883,901...93,906,115
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum RGD PMID:21625744 RGD:6482317 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 6:84,571,414...84,593,908
Ensembl chr 6:84,571,414...84,593,908
JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr10:59,949,675...59,951,770
Ensembl chr10:59,949,669...59,951,834
JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 4:40,722,468...40,734,965
Ensembl chr 4:40,722,150...40,737,149
JBrowse link
G Fancg Fanconi anemia, complementation group G ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:14699553 RGD:10402103 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 8:70,629,393...70,632,470
Ensembl chr 8:70,629,393...70,632,456
JBrowse link
G Gss glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 2:155,563,181...155,592,810
Ensembl chr 2:155,563,181...155,592,810
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
ablepharon macrostomia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO ClinVar Annotator: match by term: Ablepharon macrostomia syndrome OMIM
ClinVar
PMID:8746822, PMID:11038439, PMID:11807864, PMID:15103726, PMID:20691403, PMID:21595001, PMID:25410422, PMID:25741868, PMID:26119818 NCBI chr 1:91,801,461...91,848,034
Ensembl chr 1:91,801,461...91,848,028
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 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838, PMID:8737655, PMID:9443880, PMID:11462173, PMID:11528512, PMID:11929852, PMID:16114047, PMID:16724007, PMID:16740912, PMID:17041931, PMID:17431922, PMID:18603493, PMID:18626511, PMID:19530185, PMID:19781362, PMID:20543567, PMID:21204238, PMID:25741868, PMID:27469932, PMID:28492532 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
aggressive periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 ISO mRNA:increased expression:saliva RGD PMID:20383335 RGD:14398489 NCBI chr 1:146,495,629...146,902,472
Ensembl chr 1:146,494,760...146,902,472
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 susceptibility ISO DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Periodontitis, aggressive, 1
ClinVar Annotator: match by OMIM:170650
OMIM
ClinVar
PMID:10581027, PMID:10662808, PMID:14974080, PMID:24033266, PMID:24936511, PMID:25741868 NCBI chr 7:88,278,024...88,315,861
Ensembl chr 7:88,278,085...88,310,888
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
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 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il1r2 interleukin 1 receptor, type II ISO associated with Periodontitis;
DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human)
RGD PMID:18315432, PMID:24818754 RGD:8662884, RGD:8662885 NCBI chr 1:40,084,692...40,125,230
Ensembl chr 1:40,074,079...40,125,231
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Postn periostin, osteoblast specific factor IEA OMIM:170650 | OMIM:608526 MouseDO NCBI chr 3:54,359,267...54,391,041
Ensembl chr 3:54,361,109...54,391,037
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, liver/bone/kidney ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 4:137,741,731...137,796,384
Ensembl chr 4:137,741,733...137,796,384
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IMP associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Il10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 IMP RGD PMID:14630900 RGD:10413909 NCBI chr 1:180,568,891...180,600,999
Ensembl chr 1:180,568,924...180,601,254
JBrowse link
G Tnf tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr14:78,277,446...78,308,043
Ensembl chr14:78,277,445...78,308,043
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 ClinVar PMID:8406474 RGD:1300370 NCBI chr  X:169,176,114...169,187,209
Ensembl chr  X:169,176,114...169,187,200
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:168,795,094...169,304,440
Ensembl chr  X:168,795,099...169,304,435
JBrowse link
G Bnc2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 4:84,266,804...84,676,029
Ensembl chr 4:84,275,095...84,675,275
JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:129,881,161...129,887,470
Ensembl chr 5:129,881,156...129,887,470
JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:30311386 NCBI chr11:95,120,117...95,125,296
Ensembl chr11:95,120,119...95,125,296
JBrowse link
G Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD
ClinVar
PMID:15649948, PMID:17652207, PMID:25741868, PMID:28492532 NCBI chr 5:88,487,975...88,506,049
Ensembl chr 5:88,487,975...88,506,049
JBrowse link
G Fam20c family with sequence similarity 20, member C IMP
ISO
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358, PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr 5:138,755,081...138,810,063
Ensembl chr 5:138,754,514...138,810,077
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629, PMID:19407157 NCBI chr15:76,001,092...76,014,336
Ensembl chr15:76,001,093...76,014,336
JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr12:100,876,679...100,908,198
Ensembl chr12:100,876,682...100,908,198
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr19:5,740,900...5,758,536
Ensembl chr19:5,740,904...5,758,532
JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:129,765,558...129,787,443
Ensembl chr 5:129,765,558...129,787,449
JBrowse link
G Relt RELT tumor necrosis factor receptor IEA MouseDO NCBI chr 7:100,845,847...100,863,489
Ensembl chr 7:100,845,847...100,863,446
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr 9:74,110,331...74,283,203
Ensembl chr 9:74,110,356...74,283,308
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 (enamelysin) ISO
IEA
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM:612529
ClinVar Annotator: match by OMIM:612529
OMIM
ClinVar
MouseDO
PMID:15744043, PMID:16246936, PMID:18096894, PMID:19966041, PMID:21597265, PMID:22243262, PMID:23355523, PMID:23625376, PMID:25741868, PMID:26502894, PMID:28473773, PMID:28492532, PMID:28659819 NCBI chr 9:7,628,231...7,674,968
Ensembl chr 9:7,628,231...7,674,979
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
IEA
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA3
OMIM:613211
ClinVar Annotator: match by OMIM:613211
OMIM
ClinVar
MouseDO
PMID:19853237, PMID:20938048, PMID:30028003 NCBI chr 9:74,110,331...74,283,203
Ensembl chr 9:74,110,356...74,283,308
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 ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA4 OMIM
ClinVar
PMID:22901946 NCBI chr 5:91,987,473...91,995,317
Ensembl chr 5:91,987,475...91,995,320
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 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA5 OMIM
ClinVar
PMID:23375655, PMID:24621671 NCBI chr12:102,128,727...102,267,133
Ensembl chr12:102,128,733...102,267,091
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 ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 ClinVar
OMIM
PMID:27693231 NCBI chr12:100,876,679...100,908,198
Ensembl chr12:100,876,682...100,908,198
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, beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
ClinVar Annotator: match by OMIM:104530
OMIM
ClinVar
PMID:7698759, PMID:7706760, PMID:8824879, PMID:8983017, PMID:9205497, PMID:9242513, PMID:9767254, PMID:10577906, PMID:11023379, PMID:11298117, PMID:11451332, PMID:11689492, PMID:15311214, PMID:15538630, PMID:15663509, PMID:16439963, PMID:16473856, PMID:16674655, PMID:17476356, PMID:21801158, PMID:23632796, PMID:23958762, PMID:25708563, PMID:25741868, PMID:27062385, PMID:27375110, PMID:28492532, PMID:28830826, PMID:30544381 NCBI chr 1:193,294,353...193,343,878
Ensembl chr 1:193,207,699...193,343,878
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 chr11:95,120,117...95,125,296
Ensembl chr11:95,120,119...95,125,296
JBrowse link
G Enam enamelin ISO
IEA
ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
OMIM:104500
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant
ClinVar Annotator: match by OMIM:104500
ClinVar
MouseDO
OMIM
PMID:11487571, PMID:11978766, PMID:14684688, PMID:16246937, PMID:17125728, PMID:19329462, PMID:20439930, PMID:21597265, PMID:22414746, PMID:28334996, PMID:28492532, PMID:11487571 RGD:1598908 NCBI chr 5:88,487,975...88,506,049
Ensembl chr 5:88,487,975...88,506,049
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 ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar
PMID:14684688, PMID:16246937, PMID:17125728, PMID:19329462, PMID:20439930, PMID:21597265, PMID:28492532 NCBI chr 5:88,487,975...88,506,049
Ensembl chr 5:88,487,975...88,506,049
JBrowse link
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 9:7,628,231...7,674,968
Ensembl chr 9:7,628,231...7,674,979
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 9:74,110,331...74,283,203
Ensembl chr 9:74,110,356...74,283,308
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
IEA
OMIM:301200
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by OMIM:301200
OMIM
MouseDO
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:169,176,114...169,187,209
Ensembl chr  X:169,176,114...169,187,200
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IE
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
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:168,795,094...169,304,440
Ensembl chr  X:168,795,099...169,304,435
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 ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IF OMIM
ClinVar
PMID:24858907, PMID:26502894 NCBI chr 5:88,455,991...88,468,531
Ensembl chr 5:88,455,991...88,468,531
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a family with sequence similarity 20, member A ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
OMIM
ClinVar
PMID:18597613, PMID:21549343, PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr11:109,669,746...109,723,163
Ensembl chr11:109,669,749...109,722,279
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, 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 chr11:109,649,023...109,669,663
Ensembl chr11:109,649,405...109,669,656
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 beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IH OMIM
ClinVar
PMID:24305999, PMID:24319098 NCBI chr 2:60,598,292...60,722,603
Ensembl chr 2:60,598,292...60,722,643
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 ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IJ ClinVar
OMIM
PMID:27843125, PMID:28513613 NCBI chr 7:44,252,003...44,261,390
Ensembl chr 7:44,252,148...44,257,378
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 (prostase, enamel matrix, prostate) ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA1 ClinVar
OMIM
PMID:204700, PMID:15235027, PMID:21597265, PMID:23355523, PMID:28611678 NCBI chr 7:43,881,160...43,885,804
Ensembl chr 7:43,881,160...43,885,804
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 ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA
ClinVar Annotator: match by OMIM:130900
OMIM
ClinVar
PMID:18252228, PMID:18484629, PMID:19220331, PMID:19407157, PMID:22414746, PMID:25741868 NCBI chr15:76,001,092...76,014,336
Ensembl chr15:76,001,093...76,014,336
JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amtn amelotin ISO OMIM NCBI chr 5:88,376,108...88,385,916
Ensembl chr 5:88,376,108...88,385,916
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 tumor necrosis factor receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:30506946, PMID:32052416 NCBI chr 7:100,845,847...100,863,489
Ensembl chr 7:100,845,847...100,863,446
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 ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr11:95,120,117...95,125,296
Ensembl chr11:95,120,119...95,125,296
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 nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
ClinVar Annotator: match by OMIM:612132
OMIM
ClinVar
PMID:14523047, PMID:15337789, PMID:17931563, PMID:18412279, PMID:23708964, PMID:23864385, PMID:23870671, PMID:24033266, PMID:25741868, PMID:26888281, PMID:27577878, PMID:28417298, PMID:28492532, PMID:29948576 NCBI chr12:55,489,409...55,492,647
Ensembl chr12:55,489,410...55,492,647
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 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Ctnnd1 catenin (cadherin associated protein), delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:84,587,096...84,658,977
Ensembl chr 2:84,600,071...84,650,765
Ensembl chr 2:84,600,071...84,650,765
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 Trp63 transformation related protein 63 ISO
IEA
ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
OMIM:106260
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8456838, PMID:9774969, PMID:10886756, PMID:11159940, PMID:11929852, PMID:15200513, PMID:16724007, PMID:18603493, PMID:18626511, PMID:19239083, PMID:19353588, PMID:19676059, PMID:19781362, PMID:19793345, PMID:20543567, PMID:21615690, PMID:27469932, PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
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 8:122,883,321...123,042,284
Ensembl chr 8:122,883,822...123,042,277
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 chr14:31,641,057...31,668,197
Ensembl chr14:31,641,028...31,668,579
JBrowse link
G Cacna1e calcium channel, voltage-dependent, R type, alpha 1E subunit ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 1:154,390,806...154,884,785
Ensembl chr 1:154,390,731...154,884,501
JBrowse link
G Lgr5 leucine rich repeat containing G protein coupled receptor 5 IEA OMIM:106280 MouseDO NCBI chr10:115,450,314...115,587,780
Ensembl chr10:115,450,311...115,587,780
JBrowse link
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr11:67,078,273...67,102,291
Ensembl chr11:67,078,300...67,102,291
JBrowse link
G Obsl1 obscurin-like 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:25741868 NCBI chr 1:75,485,825...75,506,486
Ensembl chr 1:75,479,310...75,506,452
JBrowse link
G Prss56 protease, serine 56 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 1:87,183,102...87,188,405
Ensembl chr 1:87,183,313...87,188,405
JBrowse link
G Rars arginyl-tRNA synthetase ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:28905880, PMID:30311386 NCBI chr11:35,808,381...35,834,528
Ensembl chr11:35,808,381...35,834,506
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
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 chr11:108,917,828...108,950,783
Ensembl chr11:108,920,349...108,950,783
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr19:30,545,876...30,549,496
Ensembl chr19:30,545,863...30,549,665
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:99,975,606...100,400,760
Ensembl chr  X:99,975,606...100,400,762
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr13:15,463,723...15,730,026
Ensembl chr13:15,463,235...15,730,026
JBrowse link
G Irx5 Iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 8:92,357,796...92,361,456
Ensembl chr 8:92,357,625...92,376,286
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874, PMID:25899461 NCBI chr19:5,740,900...5,758,536
Ensembl chr19:5,740,904...5,758,532
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Msx1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism
CTD PMID:8696335 RGD:1600484 NCBI chr 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: TOOTH AGENESIS, FAMILIAL
ClinVar Annotator: match by term: Hypodontia
ClinVar PMID:12605438, PMID:15615874, PMID:16479262, PMID:19429910, PMID:22581971, PMID:26571067, PMID:28492532, PMID:28847717 NCBI chr12:56,691,693...56,712,824
Ensembl chr12:56,691,767...56,712,822
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, polypeptide 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 chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ifna16 interferon alpha 16 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 4:88,676,287...88,676,856
Ensembl chr 4:88,675,915...88,676,924
JBrowse link
G Il12b interleukin 12b treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,720,707...124,738,709
Ensembl chr 6:124,720,707...124,738,714
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
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 transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar Annotator: match by OMIM:137600
OMIM
ClinVar
CTD
PMID:7581385, PMID:8942889, PMID:9437321, PMID:9618168, PMID:10502778, PMID:25741868, PMID:28492532, PMID:32499604 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr13:23,702,034...23,710,854
Ensembl chr13:23,702,034...23,710,854
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
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 ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands
ClinVar Annotator: match by OMIM:180920
OMIM
ClinVar
PMID:15654336, PMID:16630169, PMID:17213838, PMID:25741868, PMID:28492532 NCBI chr13:118,714,699...118,792,573
Ensembl chr13:118,669,791...118,792,115
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 isoform ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 3:136,669,714...136,937,727
Ensembl chr 3:136,670,124...136,937,727
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, lysosomal V1 subunit B2 ISO ClinVar Annotator: match by term: DDOD SYNDROME, UMLS MESH term: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant ClinVar
OMIM
PMID:24913193, PMID:28396750 NCBI chr 8:69,088,736...69,113,718
Ensembl chr 8:69,088,646...69,113,711
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
OMIM
ClinVar
PMID:11175790, PMID:15592686, PMID:22392858, PMID:25741868, PMID:30311386, PMID:11175790 RGD:12910984 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IEA OMIM:180500 MouseDO NCBI chr 4:133,964,739...133,967,991
Ensembl chr 4:133,964,738...133,968,650
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IEA
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
MouseDO
CTD
PMID:8944018, PMID:9685346, PMID:10490637, PMID:10502778, PMID:10644443, PMID:11301317, PMID:11487566, PMID:12612071, PMID:14623826, PMID:14630904, PMID:15378534, PMID:15728254, PMID:16498627, PMID:18045789, PMID:18723525, PMID:19052653, PMID:20881294, PMID:22569110, PMID:25741868, PMID:26220699, PMID:28492532, PMID:29100920 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Foxe1 forkhead box E1 ISO
IEA
ClinVar Annotator: match by term: Bamforth syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:241850
ClinVar Annotator: match by synonym: Hypothyroidism, thyroidal, with spiky hair and cleft palate
OMIM
ClinVar
MouseDO
CTD
PMID:2918525, PMID:9697705, PMID:12165566, PMID:16882747, PMID:16884476, PMID:21177256, PMID:25381600, PMID:25741868, PMID:28492532 NCBI chr 4:46,343,644...46,345,774
Ensembl chr 4:46,343,609...46,346,412
JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome ClinVar
OMIM
PMID:1867254, PMID:8368246, PMID:9674915, PMID:16650233, PMID:19760652, PMID:20799330, PMID:20830793, PMID:26119818 NCBI chr 1:91,801,461...91,848,034
Ensembl chr 1:91,801,461...91,848,028
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 ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25741868, PMID:25792360 NCBI chr 7:44,876,765...44,892,705
Ensembl chr 7:44,876,765...44,892,712
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B (MDR/TAP), member 1A ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility
no_association
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928, PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr12:35,497,979...35,534,989
Ensembl chr12:35,497,974...35,535,038
JBrowse link
G Apoa1 apolipoprotein A-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:17206395 RGD:9068907 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)
RGD PMID:19782713, PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccr1 chemokine (C-C motif) receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 9:123,962,126...123,968,692
Ensembl chr 9:123,962,124...123,968,692
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 no_association ISO protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD PMID:15501397, PMID:15009175, PMID:17067435 RGD:4892106, RGD:8551827, RGD:8551814 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Cpb2 carboxypeptidase B2 (plasma) ISO RGD PMID:15668188 RGD:1598474 NCBI chr14:75,242,287...75,283,555
Ensembl chr14:75,242,287...75,283,555
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:74,639,573...74,693,205
Ensembl chr13:74,639,568...74,693,201
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 1:171,018,926...171,029,761
Ensembl chr 1:171,018,920...171,029,761
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-DMa histocompatibility 2, class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,119,693...34,139,101
Ensembl chr17:34,119,541...34,139,101
JBrowse link
G H2-DMb2 histocompatibility 2, class II, locus Mb2 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,143,229...34,151,553
Ensembl chr17:34,143,307...34,151,555
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*15 (human)
CTD
RGD
PMID:12622781, PMID:20622878, PMID:23396137 RGD:7364918 NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
G H2-M5 histocompatibility 2, M region locus 5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr17:36,983,785...36,997,955
Ensembl chr17:36,984,061...36,989,537
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 no_association
disease_progression
ISO DNA:polymorphisms:cds:HLA-B*51 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
DNA:polymorphisms:cds:HLA-B*15 (human)
RGD PMID:16101830, PMID:11426025, PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918 NCBI chr17:35,379,617...35,384,674
Ensembl chr17:35,379,617...35,385,290
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility
no_association
ISO DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.R241G (human)
CTD PMID:8712863, PMID:12074830, PMID:12808331, PMID:11409120, PMID:10792421 RGD:8158115, RGD:8547575, RGD:8158123 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Ifng interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:21334264, PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854
JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment
ISO
IDA
DNA, protein:hypermethylation, decreased expression:promoter, serum
DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20622878, PMID:20622879, PMID:15980236, PMID:26654556, PMID:29719061, PMID:29294320, PMID:21506890 RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Il18 interleukin 18 susceptibility
no_association
ISO
IMP
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD PMID:14727452, PMID:15234532, PMID:21532063, PMID:16273766, PMID:17055358 RGD:4889844, RGD:8655927, RGD:8655926, RGD:8655910, RGD:8655897 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 1:40,465,552...40,500,854
Ensembl chr 1:40,465,552...40,500,854
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 7:125,603,252...125,634,397
Ensembl chr 7:125,603,429...125,633,570
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:22483685, PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 6:67,422,932...67,491,855
Ensembl chr 6:67,422,932...67,491,855
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Itgal integrin alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 7:127,296,139...127,335,137
Ensembl chr 7:127,296,260...127,335,138
JBrowse link
G Itgb2 integrin beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr10:77,530,329...77,565,708
Ensembl chr10:77,530,252...77,565,708
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility
severity
ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)
RGD PMID:15730518, PMID:15693089 RGD:1582154, RGD:1582155 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr16:3,706,974...3,718,211
Ensembl chr16:3,707,218...3,718,097
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049, PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092, PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr 8:67,494,875...67,502,644
Ensembl chr 8:67,494,858...67,502,584
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association
ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet's syndrome
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar PMID:28492532, PMID:19748964, PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr 8:88,647,315...88,688,474
Ensembl chr 8:88,647,315...88,688,474
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility
no_association
ISO DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD PMID:11908569, PMID:21957880, PMID:15705632, PMID:16463158 RGD:7771576, RGD:7775050, RGD:7775048, RGD:7771577 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr 8:13,060,584...13,076,026
Ensembl chr 8:13,060,914...13,076,026
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chr 9:56,078,445...56,128,890
Ensembl chr 9:56,089,962...56,128,888
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222, PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 3:103,856,575...103,912,252
Ensembl chr 3:103,859,795...103,912,247
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:18341631 RGD:8547693 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 1:74,375,014...74,386,057
Ensembl chr 1:74,375,195...74,386,062
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606, PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD PMID:23291587, PMID:20438790, PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tlr2 toll-like receptor 2 no_association
susceptibility
ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:23908180, PMID:18336589, PMID:19796535, PMID:24255044 RGD:8552883, RGD:8552915, RGD:8552888, RGD:8552885 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tlr4 toll-like receptor 4 no_association
susceptibility
ISO mRNA:increased expression:mononulcear cell:
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
DNA:SNP:3'UTR: rs7037117(human)
RGD PMID:18234118, PMID:18336589, PMID:19796535, PMID:18408113 RGD:7777175, RGD:8552915, RGD:8552888, RGD:7777176 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (human)
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
RGD PMID:20601837, PMID:12770792, PMID:15875188, PMID:12632436, PMID:21334264, PMID:14600787 RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar PMID:28492532, PMID:14600787 RGD:7401213 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934, PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr 2:13,574,311...13,582,826
Ensembl chr 2:13,573,927...13,582,826
JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
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, family A member 5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 6:140,423,639...140,597,110
Ensembl chr 6:140,424,054...140,597,110
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 ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:27566442, PMID:28301459 NCBI chr 8:106,603,350...106,670,247
Ensembl chr 8:106,603,351...106,670,246
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin (cadherin associated protein), delta 1 ISO ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
PMID:28301459, PMID:29805042 NCBI chr 2:84,587,096...84,658,977
Ensembl chr 2:84,600,071...84,650,765
Ensembl chr 2:84,600,071...84,650,765
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
IEA
ClinVar Annotator: match by term: Verloes Bourguignon syndrome
OMIM:601216
ClinVar Annotator: match by OMIM:601216
OMIM
ClinVar
MouseDO
PMID:19213025, PMID:19344874, PMID:25669657, PMID:25741868, PMID:25899461, PMID:28492532, PMID:29625025 NCBI chr19:5,740,900...5,758,536
Ensembl chr19:5,740,904...5,758,532
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 1:161,037,580...161,070,668
Ensembl chr 1:161,040,601...161,070,658
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Bruxism ClinVar PMID:15737703, PMID:25741868 NCBI chr  X:74,026,592...74,085,690
Ensembl chr  X:74,026,592...74,135,363
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:26142438, PMID:28381441 NCBI chr10:127,538,157...127,621,148
Ensembl chr10:127,538,161...127,621,148
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 ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar
OMIM
PMID:7131178, PMID:25741868, PMID:28681861, PMID:29560417, PMID:30016436 NCBI chr 2:27,061,636...27,072,161
Ensembl chr 2:27,061,636...27,072,179
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 chr19:29,609,876...29,648,415
Ensembl chr19:29,608,214...29,648,415
JBrowse link
G Ric1 RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER OMIM
ClinVar
PMID:27878435, PMID:31932796 NCBI chr19:29,522,216...29,605,921
Ensembl chr19:29,522,282...29,606,829
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 90 kDa subunit ISO ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519, PMID:25741868 NCBI chr12:112,955,631...113,000,706
Ensembl chr12:112,960,085...113,000,704
JBrowse link
Chronic Periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 susceptibility ISO DNA:SNP: :rs1935881(human) RGD PMID:25887438 RGD:14398485 NCBI chr 1:146,495,629...146,902,472
Ensembl chr 1:146,494,760...146,902,472
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl7 chemokine (C-C motif) ligand 7 disease_progression ISO protein:increased expression:gingival crevicular fluid, gingvia RGD PMID:20151806 RGD:6483776 NCBI chr11:82,045,712...82,047,525
Ensembl chr11:82,045,712...82,047,525
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Cxcl12 chemokine (C-X-C motif) ligand 12 ISO mRNA:increased expression:gingival tissues (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20731768, PMID:21382035 RGD:6480655 NCBI chr 6:117,168,535...117,181,368
Ensembl chr 6:117,168,535...117,181,367
JBrowse link
G Cxcr4 chemokine (C-X-C motif) receptor 4 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 1:128,588,199...128,592,299
Ensembl chr 1:128,588,199...128,592,293
JBrowse link
G Dsc1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:20,083,471...20,114,773
Ensembl chr18:20,084,184...20,114,871
JBrowse link
G Dsg1a desmoglein 1 alpha ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:20,310,873...20,343,353
Ensembl chr18:20,310,811...20,343,350
JBrowse link
G Esr1 estrogen receptor 1 (alpha) no_association ISO DNA:polymorphism RGD PMID:15324358, PMID:15324358 RGD:10045837, RGD:10045837 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
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 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 1:40,404,864...40,465,418
Ensembl chr 1:40,429,570...40,465,415
JBrowse link
G Il33 interleukin 33 ISO mRNA,protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr19:29,925,113...29,960,718
Ensembl chr19:29,925,114...29,960,718
JBrowse link
G Itgb2 integrin beta 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr10:77,530,329...77,565,708
Ensembl chr10:77,530,252...77,565,708
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29517812 RGD:21403685 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) no_association
severity
ISO mRNA:increased expression:gingiva (human)
DNA:insertion:promoter:g.-1607insG (human)
RGD PMID:22401717, PMID:15312099, PMID:12622858 RGD:7206856, RGD:7207046, RGD:7207045 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO mRNA:increased expression:gingival tissues (human)
associated with Atherosclerosis
RGD PMID:21382035, PMID:24820783 RGD:6480655, RGD:13207324 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nes nestin ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 3:87,971,093...87,980,451
Ensembl chr 3:87,971,078...87,980,451
JBrowse link
G Rac2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr15:78,559,169...78,572,783
Ensembl chr15:78,559,167...78,572,783
JBrowse link
G Tlr2 toll-like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr3 toll-like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr9 toll-like receptor 9 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr14:78,277,446...78,308,043
Ensembl chr14:78,277,445...78,308,043
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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, sub-family A (ABC1), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
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 3:121,953,113...122,016,677
Ensembl chr 3:121,952,541...122,016,753
JBrowse link
G Bhmt2 betaine-homocysteine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:93,656,097...93,674,302
Ensembl chr13:93,655,720...93,674,302
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
DNA:polymorphism:cds:p.V152A(human)
ClinVar PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868, PMID:23227324, PMID:18771417 RGD:13442497, RGD:13442495 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
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
ClinVar PMID:25741868, PMID:28492532, PMID:29805042, PMID:15831593 RGD:1599548 NCBI chr 8:106,603,350...106,670,247
Ensembl chr 8:106,603,351...106,670,246
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Ctnnd1 catenin (cadherin associated protein), delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 2:84,587,096...84,658,977
Ensembl chr 2:84,600,071...84,650,765
Ensembl chr 2:84,600,071...84,650,765
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:117,877,982...118,199,043
Ensembl chr12:117,877,982...118,199,043
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 8:106,130,319...106,137,193
Ensembl chr 8:106,130,319...106,136,974
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:38,838,672...38,929,470
Ensembl chr18:38,838,673...38,929,472
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:118,714,699...118,792,573
Ensembl chr13:118,669,791...118,792,115
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:144,838,612...144,843,348
Ensembl chr 7:144,838,083...144,844,436
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:126,034,658...126,091,185
Ensembl chr 2:126,034,658...126,091,185
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:45,736,491...45,742,941
Ensembl chr19:45,736,798...45,742,915
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:58,070,671...58,112,854
Ensembl chr14:58,070,547...58,112,720
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human)
CTD PMID:17963255, PMID:24613087 RGD:11567264 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:130,162,451...130,266,808
Ensembl chr 7:130,162,451...133,123,350
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Irf6 interferon regulatory factor 6 ISO
IEA
van der Woude syndrome, OMIM:119300
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:17041601, PMID:18836445, PMID:20436469, PMID:12219090 RGD:1600214 NCBI chr 1:193,153,112...193,172,036
Ensembl chr 1:193,153,111...193,172,023
JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G LOC109433675 Bmp4 promoter region ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr14:46,386,084...46,392,983 JBrowse link
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 2:160,363,677...160,367,065
Ensembl chr 2:160,363,703...160,367,065
JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility
no_association
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:25129243, PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr12:76,254,406...76,319,820
Ensembl chr12:76,255,298...76,319,803
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)
CTD PMID:16470725, PMID:27387868 RGD:11565179 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Mthfs 5, 10-methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:89,211,190...89,240,225
Ensembl chr 9:89,210,676...89,377,713
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 9:43,737,075...43,807,461
Ensembl chr 9:43,743,984...43,832,658
Ensembl chr 9:43,743,984...43,832,658
JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr11:68,209,364...68,386,826
Ensembl chr11:68,209,364...68,400,823
JBrowse link
G Plekha5 pleckstrin homology domain containing, family A member 5 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 6:140,423,639...140,597,110
Ensembl chr 6:140,424,054...140,597,110
JBrowse link
G Plekha7 pleckstrin homology domain containing, family A member 7 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 7:116,123,485...116,308,383
Ensembl chr 7:116,123,485...116,308,376
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 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr15:32,920,723...33,034,721
Ensembl chr15:32,920,723...33,034,935
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human)
CTD PMID:21254359, PMID:18797703 RGD:11565176 NCBI chr10:77,032,269...77,050,432
Ensembl chr10:77,032,241...77,061,002
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr14:105,891,947...105,896,819
Ensembl chr14:105,891,947...105,896,819
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 chr 1:59,639,434...59,670,834
Ensembl chr 1:59,586,558...59,670,834
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr11:3,917,077...3,932,078
Ensembl chr11:3,917,192...3,932,159
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr 1:167,308,670...167,333,978
Ensembl chr 1:167,308,378...167,333,978
JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16688749 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
G Tyms thymidylate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:30,038,546...30,073,645
Ensembl chr 5:30,058,202...30,073,617
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 ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
PMID:3035184, PMID:10932188, PMID:11559849, PMID:11756979, PMID:12893758, PMID:16195396, PMID:16674562, PMID:17089422, PMID:18223281, PMID:19132250, PMID:19715471, PMID:23560673, PMID:24560896, PMID:28492532 NCBI chr 9:43,737,075...43,807,461
Ensembl chr 9:43,743,984...43,832,658
Ensembl chr 9:43,743,984...43,832,658
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhmt2 betaine-homocysteine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:93,656,097...93,674,302
Ensembl chr13:93,655,720...93,674,302
JBrowse link
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 4:84,266,804...84,676,029
Ensembl chr 4:84,275,095...84,675,275
JBrowse link
G Cask calcium/calmodulin-dependent serine protein kinase (MAGUK family) ISO
IMP
CTD Direct Evidence: marker/mechanism
DNA:insertion
CTD PMID:9787075, PMID:9787075 RGD:11576291 NCBI chr  X:13,517,080...13,846,783
Ensembl chr  X:13,517,080...13,851,367
JBrowse link
G Cbfb core binding factor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 8:105,170,674...105,217,989
Ensembl chr 8:105,170,674...105,217,989
JBrowse link
G Chuk conserved helix-loop-helix ubiquitous kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr19:44,073,334...44,107,505
Ensembl chr19:44,073,335...44,107,480
JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr17:34,038,919...34,066,684
Ensembl chr17:34,039,437...34,066,685
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col2a1 collagen, type II, alpha 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)
CTD PMID:15562585, PMID:20672350 RGD:12436724 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr16:31,663,443...31,873,356
Ensembl chr16:31,663,443...31,875,129
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:117,877,982...118,199,043
Ensembl chr12:117,877,982...118,199,043
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 3:129,677,574...129,755,322
Ensembl chr 3:129,677,565...129,755,316
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:118,714,699...118,792,573
Ensembl chr13:118,669,791...118,792,115
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:144,838,612...144,843,348
Ensembl chr 7:144,838,083...144,844,436
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:126,034,658...126,091,185
Ensembl chr 2:126,034,658...126,091,185
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:45,736,491...45,742,941
Ensembl chr19:45,736,798...45,742,915
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:58,070,671...58,112,854
Ensembl chr14:58,070,547...58,112,720
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chr 7:130,162,451...130,266,808
Ensembl chr 7:130,162,451...133,123,350
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Flnb filamin, beta susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr14:7,817,921...7,951,588
Ensembl chr14:7,817,957...7,951,588
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 7:89,404,366...89,410,110
Ensembl chr 7:89,404,355...89,413,134
JBrowse link
G Gata6 GATA binding protein 6 IEP protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 IMP RGD PMID:18816854 RGD:12738224 NCBI chr13:15,463,723...15,730,026
Ensembl chr13:15,463,235...15,730,026
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), 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 4:155,491,300...155,559,269
Ensembl chr 4:155,491,361...155,559,269
JBrowse link
G Golgb1 golgi autoantigen, golgin subfamily b, macrogolgin 1 IEA MouseDO NCBI chr16:36,875,093...36,933,085
Ensembl chr16:36,875,140...36,933,085
JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 4:135,541,887...135,573,632
Ensembl chr 4:135,541,888...135,573,630
JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 1:52,785,425...52,817,688
Ensembl chr 1:52,785,427...52,817,688
JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12920575, PMID:17041601, PMID:25741868, PMID:12219090, PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr 1:193,153,112...193,172,036
Ensembl chr 1:193,153,111...193,172,023
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Mnt max binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr11:74,830,806...74,845,725
Ensembl chr11:74,830,920...74,845,725
JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12163415, PMID:12701100, PMID:15301380, PMID:12807959 RGD:5132609 NCBI chr 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr12:76,254,406...76,319,820
Ensembl chr12:76,255,298...76,319,803
JBrowse link
G Mthfs 5, 10-methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:89,211,190...89,240,225
Ensembl chr 9:89,210,676...89,377,713
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 9:43,737,075...43,807,461
Ensembl chr 9:43,743,984...43,832,658
Ensembl chr 9:43,743,984...43,832,658
JBrowse link
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:64,884,480...65,217,826
Ensembl chr18:64,887,705...65,217,828
JBrowse link
G Nek9 NIMA (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr12:85,299,514...85,339,362
Ensembl chr12:85,299,514...85,339,362
JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 4:97,578,066...98,118,876
Ensembl chr 4:97,772,734...98,118,874
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pax9 paired box 9 IGI RGD PMID:17097601 RGD:12801424 NCBI chr12:56,691,693...56,712,824
Ensembl chr12:56,691,767...56,712,822
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IMP RGD PMID:12975342 RGD:12910559 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr15:102,234,938...102,257,522
Ensembl chr15:102,234,938...102,257,517
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 chr13:53,109,317...53,286,124
Ensembl chr13:53,109,312...53,286,124
JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 9:102,834,920...102,908,307
Ensembl chr 9:102,834,917...102,908,305
JBrowse link
G Satb2 special AT-rich sequence binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803, PMID:19170718, PMID:30311386 NCBI chr 1:56,793,981...56,981,190
Ensembl chr 1:56,793,981...56,978,650
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr15:32,920,723...33,034,721
Ensembl chr15:32,920,723...33,034,935
JBrowse link
G Shh sonic hedgehog IGI RGD PMID:17097601 RGD:12801424 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Shox2 short stature homeobox 2 IMP RGD PMID:16141225 RGD:12859081 NCBI chr 3:66,971,723...66,981,771
Ensembl chr 3:66,971,727...66,981,771
JBrowse link
G Sim2 single-minded family bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr16:94,085,104...94,127,032
Ensembl chr16:94,084,931...94,127,032
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr10:77,032,269...77,050,432
Ensembl chr10:77,032,241...77,061,002
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr14:105,891,947...105,896,819
Ensembl chr14:105,891,947...105,896,819
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 1:59,639,434...59,670,834
Ensembl chr 1:59,586,558...59,670,834
JBrowse link
G Tbx22 T-box 22 ISO cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
ClinVar PMID:25741868, PMID:12374769 RGD:724722 NCBI chr  X:107,667,964...107,688,980
Ensembl chr  X:107,667,964...107,688,978
JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 7:96,171,244...96,911,093
Ensembl chr 7:96,171,246...96,911,093
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:186,622,787...186,709,697
Ensembl chr 1:186,622,792...186,705,989
JBrowse link
G Tgfb3 transforming growth factor, beta 3 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:7493022, PMID:26971374, PMID:17097601 RGD:12801424 NCBI chr12:86,056,743...86,079,041
Ensembl chr12:86,056,745...86,079,041
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 1:167,308,670...167,333,978
Ensembl chr 1:167,308,378...167,333,978
JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Tyms thymidylate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:30,038,546...30,073,645
Ensembl chr 5:30,058,202...30,073,617
JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box 22 ISO ClinVar Annotator: match by null ClinVar PMID:2563678, PMID:11559848, PMID:12374769, PMID:14729838, PMID:22784330 NCBI chr  X:107,667,964...107,688,980
Ensembl chr  X:107,667,964...107,688,978
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 ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:24678003, PMID:25741868, PMID:27225850, PMID:28492532 NCBI chr 2:115,861,264...116,067,537
Ensembl chr 2:115,863,064...116,065,839
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 (K)-specific demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features
ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
OMIM
ClinVar
PMID:23020937, PMID:24838796, PMID:25741868, PMID:26656649 NCBI chr 4:136,550,533...136,602,787
Ensembl chr 4:136,550,540...136,602,723
JBrowse link
cleft palate-lateral synechia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IEA OMIM:119550 MouseDO NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Cleft velum ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II IEA OMIM:119570 MouseDO NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360
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 runt related transcription factor 2 ISO ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr17:44,495,987...44,814,797
Ensembl chr17:44,495,987...44,814,797
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 ClinVar Annotator: match by term: CODAS syndrome ClinVar
OMIM
PMID:1887855, PMID:25574826, PMID:25741868, PMID:25741869 NCBI chr17:56,614,297...56,626,903
Ensembl chr17:56,614,297...56,626,887
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 ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
ClinVar Annotator: match by OMIM:610706
OMIM
ClinVar
PMID:17236138, PMID:18435799, PMID:18701883, PMID:19950373, PMID:21306635, PMID:21480479, PMID:25741868 NCBI chr 7:144,838,612...144,843,348
Ensembl chr 7:144,838,083...144,844,436
JBrowse link
G LOC109115962 Fgf3 proximal promoter region ISO ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ClinVar PMID:18435799, PMID:18701883, PMID:21480479, PMID:25741868 NCBI chr 7:144,836,935...144,838,620 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 ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar
OMIM
PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779, PMID:28492532 NCBI chr11:21,571,969...21,898,687
Ensembl chr11:21,572,235...21,898,989
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 1:161,037,580...161,070,668
Ensembl chr 1:161,040,601...161,070,658
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 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:30311386 NCBI chr12:33,957,671...33,959,831
Ensembl chr12:33,957,671...33,959,829
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 Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728, PMID:23324645, PMID:26637975 NCBI chr17:35,833,920...35,838,301
Ensembl chr17:35,833,921...35,838,306
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 ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar
PMID:19182162, PMID:21262397, PMID:26637975 NCBI chr18:23,752,333...23,893,861
Ensembl chr18:23,752,333...23,893,861
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor, alpha chain 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies
ClinVar Annotator: match by OMIM:614188
OMIM
ClinVar
PMID:21741611, PMID:25741868 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474
JBrowse link
dental caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:29594988 RGD:14928324 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNP: :rs1143627C>T (human) RGD PMID:30803280 RGD:14975276 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
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 chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Fis1 fission, mitochondrial 1 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:24958380 RGD:12437081 NCBI chr 5:136,953,275...136,966,234
Ensembl chr 5:136,953,275...136,966,234
JBrowse link
G Mfn1 mitofusin 1 ISO mRNA, protein:decreased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr 3:32,529,443...32,579,225
Ensembl chr 3:32,529,465...32,579,239
JBrowse link
dental pulp calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Denticles ClinVar PMID:12354781, PMID:18456718, PMID:26788535 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
JBrowse link
Dental Pulp Exposure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd86 CD86 antigen ISO mRNA:increased expression:thalamus (rat)
mRNA:increased expression:periodontal ligament (rat)
RGD PMID:20171363, PMID:20113783 RGD:4892246, RGD:4892210 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr13:117,602,320...117,981,028
Ensembl chr13:117,602,320...117,987,418
JBrowse link
G Hcn2 hyperpolarization-activated, cyclic nucleotide-gated K+ 2 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr10:79,716,634...79,736,108
Ensembl chr10:79,716,634...79,736,108
JBrowse link
G Hcn3 hyperpolarization-activated, cyclic nucleotide-gated K+ 3 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 3:89,146,775...89,160,284
Ensembl chr 3:89,146,074...89,160,196
JBrowse link
G Optn optineurin ISO mRNA:increased expression:dental pulp (rat) RGD PMID:16109995 RGD:7775038 NCBI chr 2:5,020,521...5,064,399
Ensembl chr 2:5,020,642...5,064,051
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO protein:increased expression:brain, astrocyte RGD PMID:20043976 RGD:5508788 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159
JBrowse link
dentin dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein IEP
ISS
mRNA:decreased expression:incisor, molar (mouse)
OMIM:125400 | OMIM:125420
MouseDO PMID:11116156 RGD:734904 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
JBrowse link
G Smoc2 SPARC related modular calcium binding 2 ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr17:14,279,490...14,404,790
Ensembl chr17:14,279,506...14,404,790
JBrowse link
G Ssu2 ssu-2 homolog (C. elegans) IEA OMIM:125400 | OMIM:125420 MouseDO NCBI chr 6:112,359,322...112,388,199
Ensembl chr 6:112,359,324...112,388,023
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 ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH
OMIM
ClinVar
PMID:22152679, PMID:23317772 NCBI chr17:14,279,490...14,404,790
Ensembl chr17:14,279,506...14,404,790
JBrowse link
Dentin Dysplasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO OMIM NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
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 ISO associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta
ClinVar PMID:7691343, PMID:7695699, PMID:8218237, PMID:9016532, PMID:17078022, PMID:19344236, PMID:24668929, PMID:25741868, PMID:25944380, PMID:27509835, PMID:28492532, PMID:29807018, PMID:11286811 RGD:11571615 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:26788535 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Dspp dentin sialophosphoprotein ISO
IEA
IEP
OMIM:125490 | OMIM:125500
DNA:snp:intron:g.87612175G>A (human)
ClinVar Annotator: match by OMIM:125490
mRNA:decreased expression:incisor, molar (mouse)
OMIM
MouseDO
ClinVar
PMID:11175779, PMID:11175790, PMID:14758537, PMID:15592686, PMID:18456718, PMID:22392858, PMID:25741868, PMID:11175790, PMID:11116156 RGD:12910984, RGD:734904 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
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 ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta
DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)
OMIM
ClinVar
PMID:11175790, PMID:15592686, PMID:22392858, PMID:15690376 RGD:12911015 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
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 ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
ClinVar Annotator: match by OMIM:615821
OMIM
ClinVar
PMID:16628197, PMID:16774985, PMID:20940358, PMID:21606396, PMID:22795705, PMID:22949226, PMID:24033266, PMID:25225338, PMID:25351510, PMID:25741868, PMID:26332594, PMID:26604139, PMID:26833927, PMID:28492532 NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
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 ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by OMIM:114300
OMIM
ClinVar
PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:30285720, PMID:31680123 NCBI chr18:63,010,213...63,387,716
Ensembl chr18:63,010,213...63,387,183
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
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 ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
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:8696334 RGD:1598881 NCBI chr  X:99,975,606...100,400,760
Ensembl chr  X:99,975,606...100,400,762
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:97,333,837...97,377,234
Ensembl chr  X:97,333,840...97,377,216
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 chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Wnt10a wingless-type MMTV integration site 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 chr 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
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 ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by OMIM:129490
OMIM
ClinVar
PMID:10431241, PMID:11035039, PMID:15013427, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18854857, PMID:20236127, PMID:20979233, PMID:23401279, PMID:24033266, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532, PMID:10431241 RGD:1598883 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by OMIM:129490
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17354266 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
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 chr10:58,497,699...58,576,244
Ensembl chr10:58,497,948...58,576,244
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:224900
OMIM
ClinVar
PMID:10431241, PMID:11035039, PMID:11279189, PMID:15013427, PMID:15373768, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18816645, PMID:20236127, PMID:20979233, PMID:21771270, PMID:22032522, PMID:23401279, PMID:23991204, PMID:24641098, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by OMIM:224900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9245989, PMID:11780064, PMID:17354266 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE ClinVar PMID:28492532 NCBI chr10:58,446,852...58,494,155
Ensembl chr10:58,446,920...58,494,356
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by OMIM:614940
OMIM
ClinVar
PMID:17354266, PMID:20222921, PMID:20979233, PMID:21626677, PMID:25741868, PMID:28492532 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by OMIM:614941 OMIM
ClinVar
PMID:9245989, PMID:11780064, PMID:17354266, PMID:26991760 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
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 ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE ClinVar
OMIM
PMID:27838789 NCBI chr 4:133,518,733...133,530,790
Ensembl chr 4:133,518,963...133,530,790
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 ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE OMIM
ClinVar
PMID:30425301 NCBI chr19:5,344,705...5,349,574
Ensembl chr19:5,344,705...5,349,574
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
OMIM
ClinVar
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854
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 LOC111162622 DeltaNp63 promoter of tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ClinVar NCBI chr16:25,801,704...25,802,304 JBrowse link
G Trp63 transformation related protein 63 susceptibility ISO
IEA
DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
OMIM:604292
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar Annotator: match by OMIM:604292
ClinVar Annotator: match by null
ClinVar
CTD
MouseDO
OMIM
PMID:8737655, PMID:9028452, PMID:9443880, PMID:10535733, PMID:10839977, PMID:10936828, PMID:11462173, PMID:12161593, PMID:12525544, PMID:12838557, PMID:12939657, PMID:16691622, PMID:17041931, PMID:17431922, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21204238, 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, PMID:10535733, PMID:26470833, PMID:12161593, PMID:11903230 RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse)
CTD
ClinVar
PMID:10535733, PMID:10839977, PMID:11462173, PMID:12525544, PMID:12939657, 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:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:25983622, PMID:11462173, PMID:19903181, PMID:15324320, PMID:23775923 RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
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 C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar PMID:890102, PMID:2260589, PMID:12776252, PMID:22739343, PMID:27663155, PMID:27745832 NCBI chr 6:124,570,430...124,581,044
Ensembl chr 6:124,570,294...124,581,171
JBrowse link
G C1s2 complement component 1, s subcomponent 2 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2
ClinVar
OMIM
PMID:25741868, PMID:27745832 NCBI chr 6:124,624,625...124,636,085
Ensembl chr 6:124,624,625...124,636,085
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 channel, subfamily K, member 4 ISO ClinVar Annotator: match by term: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME OMIM
ClinVar
PMID:25741868, PMID:30290154 NCBI chr19:6,925,662...6,934,883
Ensembl chr19:6,923,966...6,934,515
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 chr17:93,198,245...93,206,541
Ensembl chr17:93,199,017...93,206,537
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:9813301 RGD:10047413 NCBI chr 2:73,816,509...73,892,677
Ensembl chr 2:73,816,509...73,892,639
JBrowse link
G Ccr3 chemokine (C-C motif) receptor 3 IMP RGD PMID:19922414 RGD:6892922 NCBI chr 9:124,017,825...124,031,692
Ensembl chr 9:124,021,972...124,031,689
JBrowse link
G Cd59a CD59a antigen ISO mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 2:104,095,753...104,115,410
Ensembl chr 2:104,095,801...104,115,354
JBrowse link
G Cd59b CD59b antigen ISO mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 2:104,069,781...104,085,790
Ensembl chr 2:104,069,849...104,091,187
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) ISO protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 3:107,741,048...107,760,469
Ensembl chr 3:107,741,048...107,760,469
JBrowse link
G Ctss cathepsin S IMP RGD PMID:17539023 RGD:5686912 NCBI chr 3:95,526,786...95,556,405
Ensembl chr 3:95,526,786...95,556,403
JBrowse link
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr19:58,235,581...58,455,946
Ensembl chr19:58,235,604...58,455,909
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21562589 RGD:8548634 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Mt3 metallothionein 3 treatment ISO RGD PMID:14625437 RGD:9685806 NCBI chr 8:94,152,607...94,154,148
Ensembl chr 8:94,152,607...94,154,146
JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 ISO mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr 6:24,518,662...24,527,690
Ensembl chr 6:24,518,666...24,528,013
JBrowse link
G Ret ret proto-oncogene ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
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 ClinVar Annotator: match by term: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION ClinVar
OMIM
PMID:29016863 NCBI chr18:67,390,731...67,402,749
Ensembl chr18:67,390,717...67,402,749
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 1:161,037,580...161,070,668
Ensembl chr 1:161,040,601...161,070,658
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Pkd1 polycystin 1, transient receptor poteintial channel interacting ISO ClinVar Annotator: match by term: Facial paralysis ClinVar PMID:30311386 NCBI chr17:24,548,689...24,596,514
Ensembl chr17:24,549,834...24,596,508
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
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 tumor necrosis factor, alpha-induced protein 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar
OMIM
PMID:24728327, PMID:26642243, PMID:28492532 NCBI chr10:19,000,910...19,015,410
Ensembl chr10:19,000,910...19,015,657
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 ClinVar Annotator: match by term: Frontonasal dysplasia 3
ClinVar Annotator: match by OMIM:613456
OMIM
ClinVar
PMID:20451171, PMID:24467814, PMID:27324866, PMID:28492532 NCBI chr10:103,007,847...103,029,549
Ensembl chr10:102,998,707...103,030,215
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, sub-family A (ABC1), member 5 ISO ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis ClinVar
OMIM
PMID:24831815 NCBI chr11:110,269,369...110,337,723
Ensembl chr11:110,269,369...110,337,716
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
ISS
OMIM:135300 | OMIM:605544 | OMIM:609955 | OMIM:611010
ClinVar Annotator: match by term: Gingival fibromatosis
MouseDO
ClinVar
PMID:25741868, PMID:11868160 RGD:1580011 NCBI chr17:80,393,752...80,480,453
Ensembl chr17:80,393,751...80,480,453
JBrowse link
Gingival Fibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Gingival fibromatosis 1 ClinVar PMID:28686854 NCBI chr 5:77,265,494...77,286,432
Ensembl chr 5:77,265,491...77,286,432
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Gingival fibromatosis 1
ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1
ClinVar Annotator: match by OMIM:135300
OMIM
ClinVar
PMID:11868160, PMID:14551916, PMID:16267129, PMID:16773572, PMID:17143282, PMID:17143285, PMID:17510059, PMID:17586837, PMID:18651097, PMID:18678287, PMID:18854871, PMID:18925667, PMID:18972187, PMID:19020799, PMID:19077116, PMID:19352411, PMID:19438935, PMID:19467855, PMID:19953625, PMID:20133692, PMID:20186801, PMID:20305546, PMID:20493809, PMID:20607846, PMID:20683980, PMID:21041952, PMID:21340158, PMID:21387466, PMID:21396583, PMID:21784453, PMID:22190897, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22551697, PMID:22585553, PMID:22589294, PMID:22604720, PMID:23165751, PMID:23487764, PMID:23665959, PMID:23673306, PMID:23885229, PMID:24033266, PMID:24037001, PMID:24451042, PMID:24522193, PMID:25073238, PMID:25180280, PMID:25712082, PMID:25741868, PMID:25802880, PMID:25862627, PMID:25864170, PMID:26249544, PMID:26297936, PMID:26467025, PMID:26580448, PMID:26708403, PMID:27153395, PMID:27304678, PMID:27763634, PMID:28378436, PMID:28492532, PMID:29493581, PMID:29625050, PMID:29696744, PMID:29752777, PMID:30311386 NCBI chr17:80,393,752...80,480,453
Ensembl chr17:80,393,751...80,480,453
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 ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, 5 ClinVar
OMIM
PMID:28686854 NCBI chr 5:77,265,494...77,286,432
Ensembl chr 5:77,265,491...77,286,432
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 chr17:84,658,174...84,683,011
Ensembl chr17:84,658,234...84,683,011
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 chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023675 NCBI chr 2:126,034,658...126,091,185
Ensembl chr 2:126,034,658...126,091,185
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
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 chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
gingival hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667, PMID:14508707 NCBI chr 5:97,884,688...98,031,017
Ensembl chr 5:97,882,783...98,031,043
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 chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
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 chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
gingivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmod fibromodulin ISO protein:increased expression:gingiva RGD PMID:15196146 RGD:2315079 NCBI chr 1:134,037,254...134,048,280
Ensembl chr 1:134,037,254...134,048,277
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) RGD PMID:19186972 RGD:2307265 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 4:145,267,132...145,315,164
Ensembl chr 4:145,267,137...145,315,164
JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Scleroderma, Systemic;protein:decreased expression:gingiva: RGD PMID:18206400 RGD:7421591 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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 anthrax toxin receptor 1 ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
ClinVar Annotator: match by term: Odontotrichomelic syndrome
ClinVar
OMIM
PMID:9180938, PMID:9298746, PMID:23602711, PMID:24033266, PMID:25045128, PMID:23602711 RGD:9684854 NCBI chr 6:87,133,853...87,335,809
Ensembl chr 6:87,133,853...87,335,821
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects ClinVar PMID:12402331, PMID:16086329, PMID:16088892, PMID:19105186, PMID:25525159, PMID:25741868, PMID:26387595, PMID:27302843, PMID:28492532, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 5:3,639,961...3,647,936
Ensembl chr 5:3,632,932...3,657,185
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
ClinVar
OMIM
PMID:1301993, PMID:2063923, PMID:9398847, PMID:9398848, PMID:10384394, PMID:10447258, PMID:10480353, PMID:11389485, PMID:12032265, PMID:12402331, PMID:15098231, PMID:15542397, PMID:16086329, PMID:16088892, PMID:16141001, PMID:17055079, PMID:19105186, PMID:20952722, PMID:21031596, PMID:21846392, PMID:22871920, PMID:23757202, PMID:24503136, PMID:25412400, PMID:25525159, PMID:25741868, PMID:26219880, PMID:26287655, PMID:26387595, PMID:26643206, PMID:27090541, PMID:27302843, PMID:27872819, PMID:27882258, PMID:28468868, PMID:28492532, PMID:30311386, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 5:3,596,066...3,637,230
Ensembl chr 5:3,596,066...3,637,232
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:46,711,476...46,725,543
Ensembl chr17:46,711,463...46,725,541
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 ClinVar Annotator: match by term: HELIX SYNDROME ClinVar
OMIM
PMID:25741868, PMID:28686597, PMID:28771254, PMID:32860008 NCBI chr14:118,787,871...118,874,525
Ensembl chr14:118,787,908...118,875,489
JBrowse link
Hemifacial Spasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO RGD PMID:30684712 RGD:14975126 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
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 chr11:96,365,746...96,368,254
Ensembl chr11:96,365,752...96,368,256
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 ClinVar Annotator: match by term: Hereditary congenital facial paresis 3
ClinVar Annotator: match by OMIM:614744
OMIM
ClinVar
PMID:22770981, PMID:25741868, PMID:26007620, PMID:27144914 NCBI chr11:96,365,746...96,368,254
Ensembl chr11:96,365,752...96,368,256
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 ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar
OMIM
PMID:15605412, PMID:16764984, PMID:19504604, PMID:23657145, PMID:23812909, PMID:24204987, PMID:24888332, PMID:25064402, PMID:25326635, PMID:25741868, PMID:26931467, PMID:28492532 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
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 IEA
ISO
IMP
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
MouseDO
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,