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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.


show annotations for term's descendants           Sort by:
 
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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum RGD PMID:21625744 RGD:6482317 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105
JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
JBrowse link
G Fancg FA complementation group G ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 treatment IEP RGD PMID:14699553 RGD:10402103 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr16:18,805,312...18,807,893
Ensembl chr16:18,805,239...18,808,055
JBrowse link
G Gss glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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:21595001 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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: Acro-dermato-ungual-lacrimal-tooth syndrome
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 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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 chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Aggressive Periodontitis
ClinVar Annotator: match by term: Periodontitis, aggressive, 1
ClinVar Annotator: match by OMIM:170650
OMIM
ClinVar
PMID:10581027 PMID:10662808 PMID:14974080 PMID:23311634 PMID:24033266 More... NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Postn periostin ISS OMIM:170650 | OMIM:608526 MouseDO NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Ppia peptidylprolyl isomerase A ISO protein:increased expression:gingiva (human) RGD PMID:27176139 RGD:150429628 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Il10 interleukin 10 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Tnf tumor necrosis factor treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663
JBrowse link
G Bnc2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:94,500,439...94,501,110
Ensembl chr 9:94,500,432...94,501,128
JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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 chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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 chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
JBrowse link
G Relt RELT, TNF receptor ISS MouseDO NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
JBrowse link
G Sp6 Sp6 transcription factor IMP RGD PMID:22676574 RGD:10047189 NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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 More... NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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 chr14:16,071,835...16,084,210
Ensembl chr14:16,073,058...16,080,129
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 6:121,278,746...121,419,811
Ensembl chr 6:121,280,031...121,414,949
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 More... NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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 chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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 More... RGD:1598908 NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
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 More... NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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 More... NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660
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 More... NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663
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
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IF
OMIM
ClinVar
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393
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: Amelogenesis imperfecta type 1G
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 More... NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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 chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623
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 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424
JBrowse link
amelogenesis imperfecta 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 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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 More... NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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 chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181
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 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196
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 chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872
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 More... RGD:11568643 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgr5 leucine rich repeat containing G protein coupled receptor 5 ISS OMIM:106280 MouseDO NCBI chr 7:51,087,059...51,221,882
Ensembl chr 7:51,088,239...51,222,446
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:25741868 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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 chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More... NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
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 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: TOOTH AGENESIS, FAMILIAL
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar Annotator: match by term: Hypodontia
ClinVar PMID:11827258 PMID:12605438 PMID:14607846 PMID:15615874 PMID:16236760 More... NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Cd8a CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:103,095,767...103,098,260 JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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 chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:69,614,744...69,622,570 JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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 chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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 Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar
OMIM
PMID:25741868 PMID:29432562 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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 Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
ClinVar
OMIM
PMID:24913193 PMID:25741868 PMID:28396750 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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:26467025 More... RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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 chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
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 More... NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome
ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by OMIM:263650
OMIM
ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar
PMID:25691407 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 8:123,556,286...123,561,841 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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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 chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
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 More... RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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 1:228,016,439...228,024,736 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049 PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092 PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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 chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
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 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 NCBI chr20:3,314,984...3,318,037 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-DMa RT1 class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
JBrowse link
G RT1-DMb RT1 class II, locus DMb no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340
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 chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
RGD PMID:20438790 PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 9:49,472,660...49,588,540 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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 More... RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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:28814775 PMID:14600787 RGD:7401213 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Bell's palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppia peptidylprolyl isomerase A exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:32149981 RGD:150429625 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
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:24033266 PMID:25741868 PMID:25980754 PMID:26123647 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA OMIM
ClinVar
PMID:30528827 NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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: Dental anomalies and short stature
ClinVar Annotator: match by term: Verloes Bourguignon syndrome
ClinVar Annotator: match by OMIM:601216
OMIM
ClinVar
PMID:11790802 PMID:16199547 PMID:19213025 PMID:19344874 PMID:25669657 More... NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Bruxism ClinVar PMID:15737703 PMID:25741868 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
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 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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 More... NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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: Catifa syndrome ClinVar PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:227,383,992...227,422,120
Ensembl chr 1:227,387,920...227,436,909
JBrowse link
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Catifa syndrome OMIM
ClinVar
PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863
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 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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 PMID:28492532 NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
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 chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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 chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
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 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dsc1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494
JBrowse link
G Dsg1 desmoglein 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443
JBrowse link
G Esr1 estrogen receptor 1 no_association ISO DNA:polymorphism RGD PMID:15324358 PMID:15324358 RGD:10045837, RGD:10045837 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il33 interleukin 33 ISO mRNA,protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Itgb2 integrin subunit beta 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29517812 RGD:21403685 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IDA associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nes nestin ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
JBrowse link
G Rac2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO protein:increased expression,'increased phosphorylation:gingiva (human) RGD PMID:30814594 RGD:127229937 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G Tlr2 toll-like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 ISO Cleft lip with or without cleft palate OMIA PMID:13875838 PMID:19115787 PMID:25798845 PMID:28738009 PMID:31682628 NCBI chr 7:125,396,227...125,528,020
Ensembl chr 7:125,397,734...125,527,777
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 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
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 More... RGD:13442497, RGD:13442495 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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 Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 More... RGD:1599548 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:25741868 PMID:29805042 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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 chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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 chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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:28492532 PMID:12219090 RGD:1600214 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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 chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
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 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
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 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
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 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
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 chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
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 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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 chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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 More... NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440
JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
JBrowse link
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
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:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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 chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
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 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Flnb filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Gata6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Golgb1 golgin B1 ISS MouseDO NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 PMID:28492532 NCBI chr 5:147,774,160...147,806,338
Ensembl chr 5:147,774,160...147,806,160
JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793
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 chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
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 chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 5:112,436,655...112,781,878
Ensembl chr 5:112,436,644...112,775,885
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Pax9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177
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 chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:103,419,348...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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 More... NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Shox2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 2:151,217,049...151,227,180
Ensembl chr 2:151,217,552...151,227,143
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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 PMID:28973083 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647
JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647
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:9536098 PMID:17576681 PMID:24678003 PMID:25741868 PMID:27225850 More... NCBI chr 3:102,742,905...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsperd cation channel sperm associated auxiliary subunit delta ISO ClinVar Annotator: match by term: CODAS syndrome ClinVar PMID:25741868 NCBI chr 9:1,459,967...1,498,342
Ensembl chr 9:1,460,001...1,498,344
JBrowse link
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 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
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 More... NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
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:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link
Congenital Macroglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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:25741868 PMID:26637975 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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 chr18:15,028,675...15,169,553 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 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:29594988 RGD:14928324 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
dental enamel hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator IMP RGD PMID:31942562 RGD:126928119 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang IMP RGD PMID:31942562 RGD:126928119
G Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang IMP RGD PMID:31942562 RGD:126928119
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 chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA, protein:increased expression:kidney (rat) RGD PMID:24958380 RGD:12437081 NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377
JBrowse link
G Mfn1 mitofusin 1 IEP mRNA, protein:decreased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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 chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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 chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
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 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 IEP protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 2:174,551,866...174,567,459
Ensembl chr 2:174,551,680...174,565,966
JBrowse link
G Optn optineurin IEP mRNA:increased expression:dental pulp (rat) RGD PMID:16109995 RGD:7775038 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:brain, astrocyte RGD PMID:20043976 RGD:5508788 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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 chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
G Smoc2 SPARC related modular calcium binding 2 ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
JBrowse link
G Ssuh2 ssu-2 homolog ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
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 1
ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth
ClinVar
OMIM
PMID:22152679 PMID:23317772 PMID:25741868 NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693
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 chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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 More... RGD:11571615 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:26788535 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Dspp dentin sialophosphoprotein ISO mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: Hereditary Opalescent Dentin
ClinVar Annotator: match by term: Opalescent dentin
ClinVar Annotator: match by term: Capdepont teeth
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 More... RGD:734904, RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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 chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES OMIM
ClinVar
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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:15941723 PMID:16628197 PMID:16774985 PMID:20940358 PMID:21606396 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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: Camptodactyly, cleft palate, and clubfoot
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by OMIM:114300
OMIM
ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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:22855961 PMID:25741868 PMID:27029625 PMID:28459997 PMID:28492532 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,344
Ensembl chr  X:62,228,229...62,269,268
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 PMID:28492532 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
ectodermal dysplasia 10A 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: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
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:9536098 PMID:10431241 PMID:11035039 PMID:11279189 PMID:15013427 More... RGD:1598883 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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 chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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 chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by OMIM:224900
OMIM
ClinVar
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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 chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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 chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
JBrowse link
ectodermal dysplasia 11B 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 11b, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Edaradd EDAR-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by OMIM:614941
OMIM
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878
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 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
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 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 2 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 and immunodeficiency 2
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 More... NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
Edentulous Mouth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1 colony stimulating factor 1 IAGP RGD PMID:12379742 RGD:628338 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
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:8737655 PMID:9443880 PMID:10535733 PMID:10839977 PMID:11462173 More... RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
Ehlers-Danlos syndrome periodontal type 1 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 OMIM:130080
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 8
ClinVar
OMIM
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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 More... NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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 PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925
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 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:9813301 RGD:10047413 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cd59 CD59 molecule IEP mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Csf1 colony stimulating factor 1 IEP protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Ctss cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 1:257,315,682...257,552,004 JBrowse link
G Hgf hepatocyte growth factor treatment IDA RGD PMID:21562589 RGD:8548634 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Mt3 metallothionein 3 treatment IDA RGD PMID:14625437 RGD:9685806 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 IEP mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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 chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
JBrowse link
GAPO syndrome 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 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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 chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976
JBrowse link
gingival disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fpr1 formyl peptide receptor 1 ISO ClinVar Annotator: match by term: Gum disease ClinVar PMID:28492532 PMID:31534221 NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559
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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr 4:77,452,930...77,481,981 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 chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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:17143282 PMID:17143285 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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 Annotator: match by term: Fibromatosis, gingival, 5
ClinVar
OMIM
PMID:25741868 PMID:28686854 PMID:33719663 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Gingival hyperplasia ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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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 chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
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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