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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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mouth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 9:11,000,869...11,027,631
Ensembl chr 9:11,001,129...11,027,506
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum RGD PMID:21625744 RGD:6482317 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 4:116,261,796...116,278,615
Ensembl chr 4:116,261,796...116,278,615
JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr20:29,509,283...29,511,382
Ensembl chr20:29,509,289...29,511,382
JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 5:57,028,467...57,039,378
Ensembl chr 5:57,028,467...57,039,378
JBrowse link
G Fancg FA complementation group G ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 treatment IEP RGD PMID:14699553 RGD:10402103 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr16:20,555,395...20,557,978
Ensembl chr16:20,555,395...20,557,978
JBrowse link
G Gss glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
ablepharon macrostomia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO 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 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO 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 chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
aggressive periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 BMP/retinoic acid inducible neural specific 3 ISO mRNA:increased expression:saliva RGD PMID:20383335 RGD:14398489 NCBI chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO associated with Periodontitis;
DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human)
RGD PMID:18315432, PMID:24818754 RGD:8662884, RGD:8662885 NCBI chr 9:46,840,646...46,881,241
Ensembl chr 9:46,840,992...46,881,264
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Postn periostin ISS OMIM:170650 | OMIM:608526 MouseDO NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687
G Il10 interleukin 10 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Tnf tumor necrosis factor treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
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:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
JBrowse link
G Bnc2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:102,407,508...102,807,389
Ensembl chr 5:102,415,847...102,786,331
JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:101,388,148...101,388,819
Ensembl chr 9:101,388,151...101,388,833
JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:30311386 NCBI chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
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 chr14:21,194,635...21,219,529
Ensembl chr14:21,194,664...21,219,454
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358, PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 6:124,874,151...124,903,949
Ensembl chr 6:124,874,151...124,876,710
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link
G Relt RELT, TNF receptor ISS MouseDO NCBI chr 1:165,884,407...165,902,022
Ensembl chr 1:165,884,407...165,901,923
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
ClinVar Annotator: match by OMIM:612529
OMIM
ClinVar
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 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232
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 ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA3
ClinVar Annotator: match by OMIM:613211
OMIM
ClinVar
PMID:19853237 PMID:20938048 PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
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 chr14:17,575,295...17,583,214
Ensembl chr14:17,575,758...17,582,823
JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA5 OMIM
ClinVar
PMID:23375655 PMID:24621671 NCBI chr 6:126,015,799...126,158,727
Ensembl chr 6:126,018,841...126,153,867
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 chr 6:124,874,151...124,903,949
Ensembl chr 6:124,874,151...124,876,710
JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb3 laminin subunit beta 3 ISO 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 chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
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 chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
JBrowse link
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant
ClinVar Annotator: match by OMIM:104500
ClinVar
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 chr14:21,194,635...21,219,529
Ensembl chr14:21,194,664...21,219,454
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 chr14:21,194,635...21,219,529
Ensembl chr14:21,194,664...21,219,454
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
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 ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by OMIM:301200
OMIM
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:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
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:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
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 chr14:21,239,887...21,252,534
Ensembl chr14:21,240,398...21,252,538
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO 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 chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IH OMIM
ClinVar
PMID:24305999 PMID:24319098 NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
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 1:100,226,311...100,234,536
Ensembl chr 1:100,227,157...100,234,040
JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA1 ClinVar
OMIM
PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:28611678 NCBI chr 1:99,828,944...99,834,642
Ensembl chr 1:99,829,351...99,834,216
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 chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
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 chr14:21,282,488...21,301,966
Ensembl chr14:21,286,510...21,299,068
JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relt RELT, TNF receptor ISO 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 1:165,884,407...165,902,022
Ensembl chr 1:165,884,407...165,901,923
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 chr10:82,937,971...82,943,367
Ensembl chr10:82,937,971...82,943,348
JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkbia NFKB inhibitor alpha ISO 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 chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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 chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
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 chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr13:71,899,445...72,534,992
Ensembl chr13:71,906,702...72,367,980
JBrowse link
G Lgr5 leucine rich repeat containing G protein coupled receptor 5 ISS OMIM:106280 MouseDO NCBI chr 7:58,447,097...58,587,787
Ensembl chr 7:58,448,277...58,587,787
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:25741868 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919
JBrowse link
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:28905880 PMID:30311386 NCBI chr10:20,633,630...20,658,074
Ensembl chr10:20,633,632...20,658,100
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904 PMID:24033266 PMID:25741868 PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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 chr10:97,212,483...97,238,824
Ensembl chr10:97,212,432...97,239,642
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr 1:248,952,896...248,956,579
Ensembl chr 1:248,895,738...248,898,607
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:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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 chr 6:77,607,705...77,624,453
Ensembl chr 6:77,608,624...77,621,719
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:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30311386 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO 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 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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 chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: DDOD SYNDROME, UMLS MESH term: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant ClinVar
OMIM
PMID:24913193 PMID:28396750 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
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 chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
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 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth syndrome
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
CTD
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:25381600 PMID:25741868 PMID:28492532 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO 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 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
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:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
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 subfamily B member 1A ISO DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928, PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:17206395 RGD:9068907 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)
RGD PMID:19782713, PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD PMID:15501397, PMID:15009175, PMID:17067435 RGD:4892106, RGD:8551827, RGD:8551814 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment
ISO 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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 susceptibility
no_association
ISO DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD PMID:14727452, PMID:15234532, PMID:21532063, PMID:16273766, PMID:17055358 RGD:4889844, RGD:8655927, RGD:8655926, RGD:8655910, RGD:8655897 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 1:198,744,053...198,781,745
Ensembl chr 1:198,744,050...198,781,750
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Mbl2 mannose binding lectin 2 severity
susceptibility
ISO protein:decreased secretion:serum (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:15693089, PMID:15730518 RGD:1582155, RGD:1582154 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049, PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092, PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos3 nitric oxide synthase 3 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 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
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 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222, PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 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
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G RT1-DMa RT1 class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:3,935,512...3,938,915
Ensembl chr20:5,240,975...5,244,386
JBrowse link
G RT1-DMb RT1 class II, locus DMb no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:3,945,383...3,952,838
Ensembl chr20:5,227,045...5,234,290
JBrowse link
G RT1-M5 RT1 class Ib, locus M5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:18341631 RGD:8547693 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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 chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF 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 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934, PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
Bell's palsy 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: Bell palsy ClinVar PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 4:174,605,462...174,774,692
Ensembl chr 4:174,605,476...174,774,693
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:8033105 PMID:27566442 PMID:28301459 PMID:32260281 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
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 ClinVar Annotator: match by term: Verloes Bourguignon syndrome
ClinVar Annotator: match by OMIM:601216
OMIM
ClinVar
PMID:19213025 PMID:19344874 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
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 chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Bruxism ClinVar PMID:15737703 PMID:25741868 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:26142438 PMID:28381441 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435 PMID:31932796 NCBI chr 1:247,784,830...247,821,771
Ensembl chr 1:247,787,582...247,821,728
JBrowse link
G Ric1 RIC1 homolog, 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 chr 1:247,688,778...247,784,219
Ensembl chr 1:247,688,789...247,781,875
JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
Cerebellofaciodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519 PMID:25741868 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
JBrowse link
Chronic Periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 BMP/retinoic acid inducible neural specific 3 susceptibility ISO DNA:SNP: :rs1935881(human) RGD PMID:25887438 RGD:14398485 NCBI chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 disease_progression ISO protein:increased expression:gingival crevicular fluid, gingvia RGD PMID:20151806 RGD:6483776 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721
G Cxcl12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:gingival tissues (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20731768, PMID:21382035 RGD:6480655 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dsc1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:11,877,918...11,906,828
Ensembl chr18:11,877,561...11,906,827
JBrowse link
G Dsg1 desmoglein 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Esr1 estrogen receptor 1 no_association ISO DNA:polymorphism RGD PMID:15324358, PMID:15324358 RGD:10045837, RGD:10045837 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il33 interleukin 33 ISO mRNA,protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Itgb2 integrin subunit beta 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29517812 RGD:21403685 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mmp1 matrix metallopeptidase 1 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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA
mRNA:increased expression:gingival tissues (human)
associated with Atherosclerosis
RGD PMID:21382035, PMID:24820783 RGD:6480655, RGD:13207324 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IDA associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nes nestin ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969
JBrowse link
G Rac2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 7:119,769,708...119,797,111
Ensembl chr 7:119,783,849...119,797,098
JBrowse link
G Tlr2 toll-like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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 2:225,552,075...225,613,349
Ensembl chr 2:225,552,148...225,613,359
JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:23,272,320...23,289,266
Ensembl chr 2:23,272,328...23,289,266
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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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 chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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 chr19:38,113,412...38,120,578
Ensembl chr19:38,113,412...38,120,578
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 PMID:30311386 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17041601 PMID:18836445 PMID:20436469, PMID:12219090 RGD:1600214 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:25129243, PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
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 chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 4:174,605,462...174,774,692
Ensembl chr 4:174,605,476...174,774,693
JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 1:185,427,600...185,493,985
Ensembl chr 1:185,356,975...185,538,694
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 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:71,572,731...71,686,139
Ensembl chr 7:71,572,941...71,686,044
JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human)
CTD PMID:21254359, PMID:18797703 RGD:11565176 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
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 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16688749 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
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 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:23,272,320...23,289,266
Ensembl chr 2:23,272,328...23,289,266
JBrowse link
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:102,407,508...102,807,389
Ensembl chr 5:102,415,847...102,786,331
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism
DNA:insertion
CTD PMID:9787075, PMID:9787075 RGD:11576291 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr19:37,127,508...37,171,075
Ensembl chr19:37,127,508...37,171,069
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)
CTD PMID:15562585, PMID:20672350 RGD:12436724 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr11:72,164,566...72,378,895
Ensembl chr11:72,163,749...72,378,895
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532 PMID:30311386 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Flnb filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Gata6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582 PMID:10819326 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27668284 PMID:28087732 PMID:30194818 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Golgb1 golgin B1 ISS MouseDO NCBI chr11:66,761,646...66,819,115
Ensembl chr11:66,761,584...66,819,079
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 9:53,544,602...53,574,303
Ensembl chr 9:53,546,018...53,574,690
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 chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
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 chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 5:116,421,895...116,750,381
Ensembl chr 5:116,420,690...116,751,416
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pax9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 6:77,607,705...77,624,453
Ensembl chr 6:77,608,624...77,621,719
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 7:143,840,739...143,863,206
Ensembl chr 7:143,839,980...143,863,186
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 chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:111,326,339...111,398,640
Ensembl chr 8:111,326,433...111,397,867
JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 PMID:25741868 PMID:28492532 PMID:29023086 PMID:30311386 NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:71,572,731...71,686,139
Ensembl chr 7:71,572,941...71,686,044
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Shox2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 2:164,118,175...164,126,783
Ensembl chr 2:164,118,191...164,126,783
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
JBrowse link
G Tbx22 T-box transcription factor 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:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 1:161,183,858...161,885,094
Ensembl chr 1:161,401,527...161,880,923
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7493022 PMID:26971374, PMID:17097601 RGD:12801424 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by null ClinVar PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
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 3:107,560,172...107,762,732
Ensembl chr 3:107,559,997...107,760,589
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO 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 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
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 ISS OMIM:119550 MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
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 chr 9:10,428,853...10,441,180
Ensembl chr 9:10,428,853...10,441,177
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 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
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 chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
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 chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
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 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
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 chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371
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 chr18:14,814,149...15,780,290 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 subunit alpha 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 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
dental caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO DNA:SNP: :rs1143627C>T (human) RGD PMID:30803280 RGD:14975276 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:29594988 RGD:14928324 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 IEP mRNA, protein:increased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:24958380 RGD:12437081 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Mfn1 mitofusin 1 IEP mRNA, protein:decreased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
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 chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
Dental Pulp Exposure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd86 CD86 molecule IEP mRNA:increased expression:thalamus (rat)
mRNA:increased expression:periodontal ligament (rat)
RGD PMID:20171363, PMID:20113783 RGD:4892246, RGD:4892210 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IEP protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 IEP protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988
JBrowse link
G Optn optineurin IEP mRNA:increased expression:dental pulp (rat) RGD PMID:16109995 RGD:7775038 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:brain, astrocyte RGD PMID:20043976 RGD:5508788 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
dentin dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO
ISS
mRNA:decreased expression:incisor, molar (mouse)
OMIM:125400 | OMIM:125420
MouseDO PMID:11116156 RGD:734904 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
G Smoc2 SPARC related modular calcium binding 2 ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 1:56,242,289...56,374,106
Ensembl chr 1:56,242,346...56,374,120
JBrowse link
G Ssuh2 ssu-2 homolog ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
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
ClinVar
OMIM
PMID:22152679 PMID:23317772 NCBI chr 1:56,242,289...56,374,106
Ensembl chr 1:56,242,346...56,374,120
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 chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
dentinogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:26788535 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Dspp dentin sialophosphoprotein ISO mRNA:decreased expression:incisor, molar (mouse)
DNA:snp:intron:g.87612175G>A (human)
ClinVar Annotator: match by OMIM:125490
ClinVar
OMIM
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:18456718 PMID:22392858 PMID:25741868, PMID:11116156, PMID:11175790 RGD:734904, RGD:12910984 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
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 chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
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 chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
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 chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868 PMID:28459997 PMID:30847471 PMID:31637490 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
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 ClinVar
OMIM
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:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,560,200...66,602,509
Ensembl chr  X:66,561,286...66,602,506
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 chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007 PMID:19559398 PMID:21484994 PMID:22581971 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24449199 PMID:24700731 PMID:25356970 PMID:25629078 PMID:25741868 PMID:28105635 PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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
ClinVar
OMIM
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 chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:129490
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17354266 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
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 chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
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 chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:224900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9245989 PMID:11780064 PMID:17354266 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
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 chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR-associated death domain ISO 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 chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by OMIM:614941 OMIM
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:26991760 NCBI chr17:90,802,280...90,843,476
Ensembl chr17:90,802,393...90,843,485
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 5:151,740,902...151,752,863
Ensembl chr 5:151,741,817...151,752,597
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 chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit 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:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 susceptibility ISO 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
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
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 chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
Edentulous Mouth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1tl colony stimulating factor 1; tooth less mutant IAGP RGD PMID:12379742 RGD:628338
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA: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 chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
Ehlers-Danlos Syndrome, Periodontal Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:27663155 PMID:27745832 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1s complement C1s 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 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME OMIM
ClinVar
PMID:25741868 PMID:30290154 NCBI chr 1:222,182,997...222,192,139
Ensembl chr 1:222,183,276...222,189,604
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 IEP mRNA:increased expression:facial VII nucleus RGD PMID:19427307 RGD:2325258 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:9813301 RGD:10047413 NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cd59 CD59 molecule IEP mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Csf1 colony stimulating factor 1 IEP protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Ctss cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 1:279,203,046...279,572,789 JBrowse link
G Hgf hepatocyte growth factor treatment IDA RGD PMID:21562589 RGD:8548634 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Mt3 metallothionein 3 treatment IDA RGD PMID:14625437 RGD:9685806 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 IEP mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr 4:51,590,413...51,598,771
Ensembl chr 4:51,590,413...51,598,771
JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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 chr18:63,130,542...63,140,181
Ensembl chr18:63,130,542...63,140,181
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 chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Facial paralysis ClinVar PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfaip3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar
OMIM
PMID:24728327 PMID:26642243 PMID:28492532 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
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 chr 7:44,751,865...44,771,458
Ensembl chr 7:44,751,873...44,771,458
JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis ClinVar
OMIM
PMID:24831815 PMID:25741868 NCBI chr10:98,573,226...98,645,028
Ensembl chr10:98,576,039...98,644,938
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 chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr 4:78,136,183...78,165,230 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 chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
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 chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
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 chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
JBrowse link
Gingival Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Gingival hemorrhage ClinVar PMID:32581362 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
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 chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
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 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
gingival hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
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 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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 chr13:50,874,886...50,885,503
Ensembl chr13:50,873,605...50,885,563
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) RGD PMID:19186972 RGD:2307265 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Scleroderma, Systemic;protein:decreased expression:gingiva: RGD PMID:18206400 RGD:7421591 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO 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 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
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 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
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