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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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mouth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr19:4,402,596...4,448,322
Ensembl chr19:4,402,640...4,445,018
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr21:36,380,145...36,419,015
Ensembl chr21:36,385,392...36,419,015
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum RGD PMID:21625744 RGD:6482317 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,148,038
JBrowse link
G DDIT4 DNA damage inducible transcript 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr10:72,273,924...72,276,036
Ensembl chr10:72,273,924...72,276,036
JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 9:33,025,273...33,039,907
Ensembl chr 9:33,025,273...33,039,907
JBrowse link
G FANCG FA complementation group G EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,016
Ensembl chr 9:35,073,835...35,080,016
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:14699553 RGD:10402103 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GDF15 growth differentiation factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr19:18,382,170...18,389,176
Ensembl chr19:18,374,731...18,389,176
JBrowse link
G GSS glutathione synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
JBrowse link
G HSPA14 heat shock protein family A (Hsp70) member 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr10:14,838,306...14,871,741
Ensembl chr10:14,838,306...14,871,741
Ensembl chr10:14,838,306...14,871,741
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G S100A12 S100 calcium binding protein A12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 1:153,373,711...153,375,621
Ensembl chr 1:153,373,711...153,375,621
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 IAGP ClinVar Annotator: match by term: Ablepharon macrostomia syndrome OMIM
ClinVar
PMID:8746822, PMID:11038439, PMID:11807864, PMID:15103726, PMID:20691403, PMID:21595001, PMID:25410422, PMID:25741868, PMID:26119818 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
Actinic Cheilitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 IEP RGD PMID:26723902 RGD:14975265 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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 IAGP ClinVar Annotator: match by term: ADULT syndrome ClinVar
OMIM
PMID:8456838, PMID:8737655, PMID:9443880, PMID:11462173, PMID:11528512, PMID:11929852, PMID:16114047, PMID:16724007, PMID:16740912, PMID:17041931, PMID:17431922, PMID:18603493, PMID:18626511, PMID:19530185, PMID:19781362, PMID:20543567, PMID:21204238, PMID:25741868, PMID:27469932, PMID:28492532 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 IEP mRNA:increased expression:saliva RGD PMID:20383335 RGD:14398489 NCBI chr 1:190,097,658...190,477,997
Ensembl chr 1:190,097,658...190,478,404
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility IAGP DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CTSC cathepsin C IAGP ClinVar Annotator: match by term: Aggressive Periodontitis
ClinVar Annotator: match by term: Periodontitis, aggressive, 1
ClinVar
OMIM
PMID:10581027, PMID:10662808, PMID:14974080, PMID:24033266, PMID:24936511, PMID:25741868 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,293,592...88,337,761
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:17524385 RGD:14700939 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP RGD PMID:17524385 RGD:14700939
G IL10 interleukin 10 IAGP
IEP
DNA:SNP:promoter:-592C>A (rs1800872) (human)
protien:decreased expression:plasma
RGD PMID:28662328, PMID:28868949 RGD:14975139, RGD:14975264 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL1R2 interleukin 1 receptor type 2 IEP
IAGP
associated with Periodontitis;
DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human)
RGD PMID:18315432, PMID:24818754 RGD:8662884, RGD:8662885 NCBI chr 2:101,991,805...102,028,544
Ensembl chr 2:101,991,960...102,028,544
JBrowse link
G IL2 interleukin 2 IEP RGD PMID:21730256 RGD:5147873 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL6 interleukin 6 IAGP DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G POSTN periostin ISS OMIM:170650 | OMIM:608526 MouseDO NCBI chr13:37,562,585...37,598,839
Ensembl chr13:37,562,583...37,598,844
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 1:21,508,984...21,578,412
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G IL10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,691...226,408,093
JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFSF11 TNF superfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:8406474 RGD:1300370 NCBI chr  X:11,293,413...11,304,149
Ensembl chr  X:11,293,413...11,300,761
JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:11,137,544...11,665,920
Ensembl chr  X:11,117,651...11,665,920
JBrowse link
G BNC2 basonuclin 2 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
JBrowse link
G BNC2-AS1 BNC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 9:16,726,814...16,727,524
Ensembl chr 9:16,726,814...16,727,524
JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:56,101,573...56,106,476
Ensembl chr 7:56,101,573...56,106,476
JBrowse link
G DLX3 distal-less homeobox 3 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:30311386 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
JBrowse link
G ENAM enamelin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD
ClinVar
PMID:15649948, PMID:17652207, PMID:25741868, PMID:28492532 NCBI chr 4:70,627,471...70,646,824
Ensembl chr 4:70,628,744...70,646,824
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO
IAGP
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358, PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
JBrowse link
G FAM83H family with sequence similarity 83 member H EXP CTD Direct Evidence: marker/mechanism CTD PMID:18484629, PMID:19407157 NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234
JBrowse link
G GPR68 G protein-coupled receptor 68 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr14:91,232,532...91,264,581
Ensembl chr14:91,232,532...91,253,925
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr11:65,538,559...65,558,389
Ensembl chr11:65,538,805...65,558,930
JBrowse link
G PSPH phosphoserine phosphatase IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:56,010,487...56,051,604
Ensembl chr 7:56,011,051...56,051,604
JBrowse link
G RELT RELT TNF receptor ISS MouseDO NCBI chr11:73,376,395...73,397,474
Ensembl chr11:73,376,399...73,397,474
JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 ClinVar
OMIM
PMID:15744043, PMID:16246936, PMID:18096894, PMID:19966041, PMID:21597265, PMID:22243262, PMID:23355523, PMID:23625376, PMID:25741868, PMID:26502894, PMID:28473773, PMID:28492532, PMID:28659819 NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA3 ClinVar
OMIM
PMID:19853237, PMID:20938048, PMID:30028003 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA4 OMIM
ClinVar
PMID:22901946 NCBI chr 4:75,554,997...75,565,893
Ensembl chr 4:75,556,048...75,565,885
Ensembl chr 4:75,556,048...75,565,885
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA5 ClinVar
OMIM
PMID:23375655, PMID:24621671 NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
JBrowse link
Amelogenesis Imperfecta Hypomaturation Type, 2A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR68 G protein-coupled receptor 68 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type IIA6 ClinVar
OMIM
PMID:27693231 NCBI chr14:91,232,532...91,264,581
Ensembl chr14:91,232,532...91,253,925
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA
ClinVar
OMIM
PMID:7698759, PMID:7706760, PMID:8824879, PMID:8983017, PMID:9205497, PMID:9242513, PMID:9767254, PMID:10577906, PMID:11023379, PMID:11298117, PMID:11451332, PMID:11689492, PMID:15311214, PMID:15538630, PMID:15663509, PMID:16439963, PMID:16473856, PMID:16674655, PMID:17476356, PMID:21801158, PMID:23632796, PMID:23958762, PMID:25708563, PMID:25741868, PMID:27062385, PMID:27375110, PMID:28492532, PMID:28830826, PMID:30544381 NCBI chr 1:209,614,870...209,652,467
Ensembl chr 1:209,614,870...209,652,425
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 IAGP ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
JBrowse link
G ENAM enamelin IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant
ClinVar
OMIM
PMID:11487571, PMID:11978766, PMID:14684688, PMID:16246937, PMID:17125728, PMID:19329462, PMID:20439930, PMID:21597265, PMID:22414746, PMID:28334996, PMID:28492532, PMID:11487571 RGD:1598908 NCBI chr 4:70,627,471...70,646,824
Ensembl chr 4:70,628,744...70,646,824
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC OMIM
ClinVar
PMID:14684688, PMID:16246937, PMID:17125728, PMID:19329462, PMID:20439930, PMID:21597265, PMID:28492532 NCBI chr 4:70,627,471...70,646,824
Ensembl chr 4:70,628,744...70,646,824
JBrowse link
G MMP20 matrix metallopeptidase 20 IAGP ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr11:102,576,832...102,625,332
Ensembl chr11:102,576,832...102,625,332
JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
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 IAGP ClinVar Annotator: match by term: Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH
ClinVar
OMIM
PMID:1483698, PMID:1916828, PMID:1967204, PMID:3169793, PMID:4623931, PMID:5225441, PMID:7599636, PMID:7782077, PMID:8406474, PMID:9188994, PMID:10669095, PMID:11201048, PMID:11839357, PMID:11922868, PMID:15111628, PMID:23251683 NCBI chr  X:11,293,413...11,304,149
Ensembl chr  X:11,293,413...11,300,761
JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 IAGP ClinVar Annotator: match by term: Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH
ClinVar PMID:1483698, PMID:1916828, PMID:1967204, PMID:3169793, PMID:4623931, PMID:5225441, PMID:7599636, PMID:7782077, PMID:8406474, PMID:9188994, PMID:10669095, PMID:11201048, PMID:11839357, PMID:11922868, PMID:15111628, PMID:23251683 NCBI chr  X:11,137,544...11,665,920
Ensembl chr  X:11,117,651...11,665,920
JBrowse link
G MIR548AX microRNA 548ax IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1e, with snow-capped teeth ClinVar PMID:23251683 NCBI chr  X:11,318,614...11,318,686
Ensembl chr  X:11,318,614...11,318,686
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type IF ClinVar
OMIM
PMID:24858907, PMID:26502894 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288
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 IAGP ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar
OMIM
PMID:18597613, PMID:21549343, PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr17:68,530,276...68,601,367
Ensembl chr17:68,535,113...68,601,367
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type IH OMIM
ClinVar
PMID:24305999, PMID:24319098 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,200,313
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type IJ ClinVar
OMIM
PMID:27843125, PMID:28513613 NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA1 ClinVar
OMIM
PMID:204700, PMID:15235027, PMID:21597265, PMID:23355523, PMID:28611678 NCBI chr19:50,906,351...50,910,745
Ensembl chr19:50,906,352...50,910,738
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 IAGP ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA ClinVar
OMIM
PMID:18252228, PMID:18484629, PMID:19220331, PMID:19407157, PMID:22414746, PMID:25741868 NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234
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 IAGP OMIM NCBI chr 4:70,518,569...70,532,743
Ensembl chr 4:70,518,569...70,532,743
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 IAGP 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 chr11:73,376,395...73,397,474
Ensembl chr11:73,376,399...73,397,474
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 IAGP ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFKBIA NFKB inhibitor alpha IAGP ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant ClinVar
OMIM
PMID:14523047, PMID:15337789, PMID:17931563, PMID:18412279, PMID:23708964, PMID:23864385, PMID:23870671, PMID:24033266, PMID:25741868, PMID:26888281, PMID:27577878, PMID:28417298, PMID:28492532, PMID:29948576 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,511...35,404,749
Ensembl chr14:35,401,511...35,404,749
JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G CTNND1 catenin delta 1 IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
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 IAGP
EXP
DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8456838, PMID:9774969, PMID:10886756, PMID:11159940, PMID:11929852, PMID:15200513, PMID:16724007, PMID:18603493, PMID:18626511, PMID:19239083, PMID:19353588, PMID:19676059, PMID:19781362, PMID:19793345, PMID:20543567, PMID:21615690, PMID:27469932, PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain 11 IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr16:89,267,619...89,490,561
Ensembl chr16:89,267,630...89,490,561
JBrowse link
G BTD biotinidase IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:9654207, PMID:10400129, PMID:10801053, PMID:12227467, PMID:14707518, PMID:15776412, PMID:20224900, PMID:22698809, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 3:15,601,352...15,722,516
Ensembl chr 3:15,601,341...15,722,311
JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 1:181,317,712...181,808,084
Ensembl chr 1:181,317,690...181,808,084
JBrowse link
G LGR5 leucine rich repeat containing G protein-coupled receptor 5 ISS OMIM:106280 MouseDO NCBI chr12:71,439,798...71,586,310
Ensembl chr12:71,439,798...71,586,310
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:25741868 NCBI chr 2:219,549,408...219,571,573
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:30311386 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
JBrowse link
G RARS1 arginyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:28905880, PMID:30311386 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
anodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:26406231 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042
JBrowse link
G EDA ectodysplasin A IAGP ClinVar Annotator: match by term: Hypodontia
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar PMID:11295832, PMID:12949972, PMID:19278982, PMID:19623212, PMID:19921643, PMID:21357618, PMID:21457804, PMID:22350046, PMID:23553579, PMID:24033266, PMID:24487376, PMID:24664614, PMID:25741868, PMID:26325558, PMID:26345974, PMID:26753551, PMID:27144394, PMID:28492532 NCBI chr  X:69,616,086...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,237,870
JBrowse link
G IRX5 iroquois homeobox 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19344874, PMID:25899461 NCBI chr11:65,538,559...65,558,389
Ensembl chr11:65,538,805...65,558,930
JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MSX1 msh homeobox 1 IAGP
EXP
autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism
CTD PMID:8696335 RGD:1600484 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP 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:12605438, PMID:15615874, PMID:16479262, PMID:19429910, PMID:22581971, PMID:26571067, PMID:28492532, PMID:28847717 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Absence of permanent teeth ClinVar PMID:10655546, PMID:11774072, PMID:11980847, PMID:14507861, PMID:16688110, PMID:16735991, PMID:16735994, PMID:17563717, PMID:17591938, PMID:17718864, PMID:18622259, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:21081970, PMID:21168818, PMID:23028769, PMID:24033266, PMID:24281366, PMID:25741868, PMID:25978063, PMID:27408750, PMID:27508083, PMID:27535533, PMID:28384041, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
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 IEP protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G IFNA6 interferon alpha 6 treatment IEP RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,349,835...21,351,378
JBrowse link
G IL12B interleukin 12B treatment IEP RGD PMID:16114559 RGD:7829774 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
JBrowse link
G IL4 interleukin 4 treatment IEP RGD PMID:16114559 RGD:7829774 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression IEP mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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 IAGP
EXP
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
ClinVar Annotator: match by term: Anterior segment dysgenesis 4
ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar
CTD
OMIM
PMID:7581385, PMID:8942889, PMID:9437321, PMID:9618168, PMID:10502778, PMID:25741868, PMID:28492532, PMID:32499604 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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 IAGP DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr 6:26,087,347...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IEP protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G IL10 interleukin 10 IAGP DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity IAGP DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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 IAGP ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands ClinVar
OMIM
PMID:15654336, PMID:16630169, PMID:17213838, PMID:25741868, PMID:28492532 NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 4:101,023,418...101,348,295
Ensembl chr 4:101,023,409...101,348,278
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 IAGP ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant ClinVar
OMIM
PMID:24913193, PMID:28396750 NCBI chr 8:20,197,375...20,226,852
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein IAGP DNA:missense mutations:cds:p.P17T, p.V18P (human)
ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
ClinVar
OMIM
PMID:11175790, PMID:15592686, PMID:22392858, PMID:25741868, PMID:30311386, PMID:11175790 RGD:12910984 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G HMGN2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 1:26,472,440...26,476,642
Ensembl chr 1:26,472,440...26,476,642
JBrowse link
G PAX6 paired box 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX2 paired like homeodomain 2 IAGP
EXP
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8944018, PMID:9685346, PMID:10490637, PMID:10502778, PMID:10644443, PMID:11301317, PMID:11487566, PMID:12612071, PMID:14623826, PMID:14630904, PMID:15378534, PMID:15728254, PMID:16498627, PMID:18045789, PMID:18723525, PMID:19052653, PMID:20881294, PMID:22569110, PMID:25741868, PMID:26220699, PMID:28492532, PMID:29100920 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G FOXE1 forkhead box E1 IAGP
EXP
ClinVar Annotator: match by term: Hypothyroidism, thyroidal, with spiky hair and cleft palate
ClinVar Annotator: match by term: Bamforth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2918525, PMID:9697705, PMID:12165566, PMID:16882747, PMID:16884476, PMID:21177256, PMID:25381600, PMID:25741868, PMID:28492532 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717
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 IAGP ClinVar Annotator: match by term: Barber-Say syndrome ClinVar
OMIM
PMID:1867254, PMID:8368246, PMID:9674915, PMID:16650233, PMID:19760652, PMID:20799330, PMID:20830793, PMID:26119818 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
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 IAGP ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25741868, PMID:25792360 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
Ensembl chr19:49,818,282...49,840,383
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 IAGP DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ACE angiotensin I converting enzyme susceptibility
no_association
IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928, PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADA2 adenosine deaminase 2 IAGP ClinVar Annotator: match by term: Behcet Syndrome
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar PMID:28492532, PMID:28814775 NCBI chr22:17,178,790...17,221,854
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G APOA1 apolipoprotein A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOB apolipoprotein B EXP CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G CAT catalase IEP
EXP
protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:17206395 RGD:9068907 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
IEP
DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)
RGD PMID:19782713, PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCR1 C-C motif chemokine receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association IEP
IAGP
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 3:46,370,142...46,376,206
Ensembl chr 3:46,370,854...46,376,206
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CFB complement factor B IEP RGD PMID:6900632 RGD:7411737 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,084
JBrowse link
G CPB2 carboxypeptidase B2 IEP RGD PMID:15668188 RGD:1598474 NCBI chr13:46,053,066...46,105,033
Ensembl chr13:46,053,186...46,105,033
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,541...73,743,716
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G EDN1 endothelin 1 IEP protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 5:96,760,273...96,935,983
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G F5 coagulation factor V no_association IAGP DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FAS Fas cell surface death receptor severity IEP protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility IAGP DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
G HLA-B major histocompatibility complex, class I, B disease_progression IAGP
EXP
DNA:polymorphism:cds:HLA-B*51 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*51 (human, Turkish)
DNA:polymorphism:cds:HLA-B*15 (human)
CTD PMID:20622878, PMID:23396137, PMID:16101830, PMID:11426025, PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,269,491...31,357,188
JBrowse link
G HLA-DMA major histocompatibility complex, class II, DM alpha no_association IAGP RGD PMID:10375868 RGD:1582700 NCBI chr 6:32,948,618...32,953,097
Ensembl chr 6:32,948,613...32,969,094
JBrowse link
G HLA-DMB major histocompatibility complex, class II, DM beta no_association IAGP RGD PMID:10375868 RGD:1582700 NCBI chr 6:32,934,636...32,941,028
Ensembl chr 6:32,934,629...32,941,028
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G HMOX1 heme oxygenase 1 IEP mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility
no_association
IAGP
EXP
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 chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNG interferon gamma IEP associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:21334264, PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IL10 interleukin 10 disease_progression
onset
susceptibility
treatment
IEP
IAGP
EXP
ISO
DNA, protein:hypermethylation, decreased expression:promoter, serum
DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20622878, PMID:20622879, PMID:15980236, PMID:26654556, PMID:29719061, PMID:29294320, PMID:21506890 RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL17A interleukin 17A IEP protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 susceptibility
no_association
IEP
ISO
IAGP
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 chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL18R1 interleukin 18 receptor 1 IAGP ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 2:102,355,796...102,398,777
Ensembl chr 2:102,311,529...102,398,775
JBrowse link
G IL1B interleukin 1 beta IEP protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL2 interleukin 2 IAGP DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21R interleukin 21 receptor IMP RGD PMID:21724243 RGD:6892926 NCBI chr16:27,402,162...27,452,043
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL23R interleukin 23 receptor susceptibility IAGP DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:22483685, PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 1:67,138,639...67,259,979
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL4 interleukin 4 IAGP DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility IAGP RGD PMID:12412731 RGD:1582300 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGAL integrin subunit alpha L EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr16:30,472,683...30,523,185
Ensembl chr16:30,472,719...30,523,185
JBrowse link
G ITGB2 integrin subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr21:44,885,949...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G KLRC4 killer cell lectin like receptor C4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,382...10,409,757
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility
severity
IAGP
IEP
DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)
RGD PMID:15730518, PMID:15693089 RGD:1582154, RGD:1582155 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr16:3,242,027...3,256,776
Ensembl chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049, PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MMP2 matrix metallopeptidase 2 IEP RGD PMID:17949555 RGD:8657044 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:plasma, platelets RGD PMID:22116092, PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr 8:18,386,585...18,401,219
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility
no_association
IAGP 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 chr16:50,693,587...50,733,077
Ensembl chr16:50,693,588...50,734,041
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association
IAGP 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 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PROZ protein Z, vitamin K dependent plasma glycoprotein IDA RGD PMID:14507116 RGD:1580692 NCBI chr13:113,155,864...113,172,386
Ensembl chr13:113,158,648...113,172,386
JBrowse link
G PSORS1C1 psoriasis susceptibility 1 candidate 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23396137 NCBI chr 6:31,114,800...31,140,092
Ensembl chr 6:31,114,750...31,140,092
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222, PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SERPINE1 serpin family E member 1 IEP
EXP
protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:18341631 RGD:8547693 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 2:218,381,766...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SOD1 superoxide dismutase 1 IEP protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G STAT3 signal transducer and activator of transcription 3 no_association IAGP DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606, PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP
EXP
DNA:SNP: :rs7574865 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD PMID:23291587, PMID:20438790, PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 no_association
susceptibility
IEP
IAGP
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 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR3 toll like receptor 3 IEP protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,069,152...186,088,069
Ensembl chr 4:186,069,152...186,088,069
JBrowse link
G TLR4 toll like receptor 4 no_association
susceptibility
IEP
IAGP
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 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor no_association IMP
IAGP
IEP
DNA:SNP:promoter:-308G>A (human)
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
RGD PMID:20601837, PMID:12770792, PMID:15875188, PMID:12632436, PMID:21334264, PMID:14600787 RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP
IAGP
protein:increased expression:serum
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar PMID:28492532, PMID:14600787 RGD:7401213 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G VDR vitamin D receptor no_association IAGP DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934, PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VIM vimentin IDA RGD PMID:3780056 RGD:6480476 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
JBrowse link
G VWF von Willebrand factor IDA RGD PMID:15849757 RGD:1580642 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Ensembl chr12:5,948,877...6,124,770
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 IAGP ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr12:19,129,680...19,376,400
Ensembl chr12:19,129,752...19,376,400
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 IAGP ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:27566442, PMID:28301459 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,541
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 IAGP ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
PMID:28301459, PMID:29805042 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar PMID:28301459, PMID:29805042 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
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 IAGP ClinVar Annotator: match by term: Tooth agenesis, selective, 6
ClinVar Annotator: match by term: Dental anomalies and short stature
ClinVar Annotator: match by term: Verloes Bourguignon syndrome
ClinVar
OMIM
PMID:19213025, PMID:19344874, PMID:25669657, PMID:25741868, PMID:25899461, PMID:28492532, PMID:29625025 NCBI chr11:65,538,559...65,558,389
Ensembl chr11:65,538,805...65,558,930
JBrowse link
bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Teeth grinding ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Bruxism ClinVar PMID:15737703, PMID:25741868 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
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 IAGP ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:26142438, PMID:28381441 NCBI chr12:57,128,401...57,213,377
Ensembl chr12:57,128,483...57,213,361
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 IAGP ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar
OMIM
PMID:7131178, PMID:25741868, PMID:28681861, PMID:29560417, PMID:30016436 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
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 IAGP ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435, PMID:31932796 NCBI chr 9:5,764,061...5,867,091
Ensembl chr 9:5,765,076...5,833,117
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER OMIM
ClinVar
PMID:27878435, PMID:31932796 NCBI chr 9:5,629,030...5,778,633
Ensembl chr 9:5,629,025...5,776,557
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 8:71,197,433...71,548,104
Ensembl chr 8:71,197,433...71,592,025
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 IAGP ClinVar Annotator: match by term: cerebellar-facial-dental syndrome
ClinVar Annotator: match by term: Cerebellofaciodental syndrome
ClinVar
OMIM
PMID:25561519, PMID:25741868 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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 IAGP DNA:SNP: :rs1935881(human) RGD PMID:25887438 RGD:14398485 NCBI chr 1:190,097,658...190,477,997
Ensembl chr 1:190,097,658...190,478,404
JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP RGD PMID:20059422 RGD:8661721 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCL7 C-C motif chemokine ligand 7 disease_progression IEP protein:increased expression:gingival crevicular fluid, gingvia RGD PMID:20151806 RGD:6483776 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
JBrowse link
G CCR2 C-C motif chemokine receptor 2 IEP RGD PMID:20059422 RGD:8661721 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 IEP
EXP
mRNA:increased expression:gingival tissues
CTD Direct Evidence: marker/mechanism
CTD PMID:20731768, PMID:21382035 RGD:6480655 NCBI chr10:44,292,088...44,385,097
Ensembl chr10:44,370,165...44,386,493
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IEP mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,118,149
JBrowse link
G DSC1 desmocollin 1 IEP mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr18:31,129,236...31,162,856
Ensembl chr18:31,129,236...31,162,856
JBrowse link
G DSG1 desmoglein 1 IEP mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246
JBrowse link
G ESR1 estrogen receptor 1 no_association IAGP DNA:polymorphism RGD PMID:15324358, PMID:15324358 RGD:10045837, RGD:10045837 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:17524385 RGD:14700939 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G IL10 interleukin 10 IAGP DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) RGD PMID:31055876 RGD:14975127 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 IEP mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 2:102,311,529...102,352,367
Ensembl chr 2:102,311,502...102,352,037
JBrowse link
G IL33 interleukin 33 IEP mRNA, protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 9:6,214,591...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G ITGB2 integrin subunit beta 2 IEP mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr21:44,885,949...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G MIR155 microRNA 155 treatment IEP RGD PMID:29517812 RGD:21403685 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MMP1 matrix metallopeptidase 1 no_association
severity
IEP
IAGP
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 chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment IEP
ISO
mRNA:increased expression:gingival tissues
associated with Atherosclerosis
RGD PMID:21382035, PMID:24820783 RGD:6480655, RGD:13207324 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NES nestin IEP mRNA:decreased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr 1:156,668,763...156,677,407
Ensembl chr 1:156,668,763...156,677,407
JBrowse link
G RAC2 Rac family small GTPase 2 IEP mRNA:increased expression:gingival tissues RGD PMID:21382035 RGD:6480655 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,244,448
JBrowse link
G TLR2 toll like receptor 2 severity IEP protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR3 toll like receptor 3 severity IEP protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,069,152...186,088,069
Ensembl chr 4:186,069,152...186,088,069
JBrowse link
G TLR4 toll like receptor 4 severity IEP protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR9 toll like receptor 9 severity IEP protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,226,163
JBrowse link
G TNFSF11 TNF superfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 IAGP ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 1:94,168,905...94,275,068
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:79,069,767...79,090,069
Ensembl chr 5:79,069,767...79,090,069
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility IAGP DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868, PMID:18771417, PMID:23227324 RGD:13442495, RGD:13442497 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 susceptibility IAGP DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar PMID:25741868, PMID:28492532, PMID:29805042, PMID:15831593 RGD:1599548 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,541
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G CTNND1 catenin delta 1 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G ESRP2 epithelial splicing regulatory protein 2 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr16:68,225,968...68,236,175
Ensembl chr16:68,229,033...68,238,102
JBrowse link
G FGF1 fibroblast growth factor 1 IAGP DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
JBrowse link
G FGF10 fibroblast growth factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGF3 fibroblast growth factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,130...101,780,369
JBrowse link
G FGF9 fibroblast growth factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP
EXP
DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17963255, PMID:24613087 RGD:11567264 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,334...121,598,458
Ensembl chr10:121,478,334...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GDF6 growth differentiation factor 6 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
EXP
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:17041601, PMID:18836445, PMID:20436469, PMID:12219090 RGD:1600214 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KIF7 kinesin family member 7 IAGP DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G LOC109433677 BMP4 promoter region IAGP ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr14:53,953,395...53,958,769 JBrowse link
G MAFB MAF bZIP transcription factor B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MSX1 msh homeobox 1 IAGP DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
IAGP DNA:SNP:cds:1958G>A(human) RGD PMID:25129243, PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP
EXP
DNA:polymorphism: :c.677C>T(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16470725, PMID:27387868 RGD:11565179 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NOG noggin susceptibility IAGP DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NTN1 netrin 1 IAGP ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr17:9,021,510...9,244,000
Ensembl chr17:9,021,510...9,244,000
JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr12:19,129,680...19,376,400
Ensembl chr12:19,129,752...19,376,400
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr11:16,777,297...17,014,423
Ensembl chr11:16,777,297...17,014,414
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SDC2 syndecan 2 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,493,601...96,611,790
Ensembl chr 8:96,493,813...96,611,790
JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility IAGP
EXP
DNA:SNP: :80G>A(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:21254359, PMID:18797703 RGD:11565176 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP
EXP
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16990542 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,180...202,238,608
Ensembl chr 2:202,206,180...202,238,608
JBrowse link
G TCN2 transcobalamin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
JBrowse link
G TP63 tumor protein p63 IAGP
EXP
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16688749 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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 IAGP
EXP
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3035184, PMID:10932188, PMID:11559849, PMID:11756979, PMID:12893758, PMID:16195396, PMID:16674562, PMID:17089422, PMID:18223281, PMID:19132250, PMID:19715471, PMID:23560673, PMID:24560896, PMID:28492532 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHMT2 betaine--homocysteine S-methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:79,069,767...79,090,069
Ensembl chr 5:79,069,767...79,090,069
JBrowse link
G BNC2 basonuclin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO
EXP
DNA:insertion
CTD Direct Evidence: marker/mechanism
CTD PMID:9787075, PMID:9787075 RGD:11576291 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,517
Ensembl chr  X:41,514,934...41,923,517
JBrowse link
G CBFB core-binding factor subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex EXP CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr10:100,188,300...100,229,610
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL2A1 collagen type II alpha 1 chain susceptibility IAGP
EXP
DNA:SNP,haplotype:intron:rs1793949(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15562585, PMID:20672350 RGD:12436724 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G EGF epidermal growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G FGF10 fibroblast growth factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGF3 fibroblast growth factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,130...101,780,369
JBrowse link
G FGF9 fibroblast growth factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,334...121,598,458
Ensembl chr10:121,478,334...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638
JBrowse link
G FLNB filamin B susceptibility IAGP DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,400...58,172,251
JBrowse link
G FZD4 frizzled class receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GDF6 growth differentiation factor 6 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,237,870
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,891,117
JBrowse link
G GOLGB1 golgin B1 ISS MouseDO NCBI chr 3:121,663,201...121,751,169
Ensembl chr 3:121,663,199...121,749,767
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,319,322...24,364,482
Ensembl chr 1:24,319,322...24,364,482
JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 2:190,343,589...190,371,665
Ensembl chr 2:190,343,570...190,371,665
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
EXP
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
CTD
ClinVar
PMID:12920575, PMID:17041601, PMID:25741868, PMID:12219090, PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KIF7 kinesin family member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G MNT MAX network transcriptional repressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr17:2,384,073...2,401,060
Ensembl chr17:2,384,073...2,401,104
JBrowse link
G MSX1 msh homeobox 1 IAGP
EXP
DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12163415, PMID:12701100, PMID:15301380, PMID:12807959 RGD:5132609 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NEK9 NIMA related kinase 9 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr14:75,079,353...75,127,637
Ensembl chr14:75,079,353...75,127,344
JBrowse link
G NFIA nuclear factor I A IAGP ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RARG retinoic acid receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr12:53,210,569...53,232,231
Ensembl chr12:53,210,567...53,232,980
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 susceptibility IAGP DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RYK receptor like tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 3:134,157,133...134,250,859
Ensembl chr 3:134,065,303...134,250,859
Ensembl chr 3:134,065,303...134,250,859
JBrowse link
G SATB2 SATB homeobox 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803, PMID:19170718, PMID:30311386 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
JBrowse link
G SDC2 syndecan 2 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,493,601...96,611,790
Ensembl chr 8:96,493,813...96,611,790
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SHOX2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 3:158,095,905...158,106,420
Ensembl chr 3:158,095,954...158,106,503
JBrowse link
G SIM2 SIM bHLH transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr21:36,699,115...36,750,219
Ensembl chr21:36,699,115...36,749,917
JBrowse link
G SLC19A1 solute carrier family 19 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
JBrowse link
G SUMO1 small ubiquitin like modifier 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,180...202,238,608
Ensembl chr 2:202,206,180...202,238,608
JBrowse link
G TBX22 T-box transcription factor 22 IAGP cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
ClinVar PMID:25741868, PMID:12374769 RGD:724722 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
JBrowse link
G TENM4 teneurin transmembrane protein 4 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr11:78,652,829...79,441,030
Ensembl chr11:78,652,829...79,441,030
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFB2 transforming growth factor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:7493022, PMID:26971374, PMID:17097601 RGD:12801424 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TP63 tumor protein p63 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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 IAGP ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678, PMID:11559848, PMID:12374769, PMID:14729838, PMID:22784330 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
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 IAGP ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:24678003, PMID:25741868, PMID:27225850, PMID:28492532 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
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 IAGP ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features
ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
ClinVar
OMIM
PMID:23020937, PMID:24838796, PMID:25741868, PMID:26656649 NCBI chr 1:23,019,443...23,083,691
Ensembl chr 1:23,019,443...23,083,689
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 chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Cleft velum ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
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 IAGP ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LONP1 lon peptidase 1, mitochondrial IAGP ClinVar Annotator: match by term: CODAS syndrome ClinVar
OMIM
PMID:1887855, PMID:25574826, PMID:25741868, PMID:25741869 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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 IAGP ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ClinVar
OMIM
PMID:17236138, PMID:18435799, PMID:18701883, PMID:19950373, PMID:21306635, PMID:21480479, PMID:25741868 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G LOC109115964 FGF3 5' regulatory region IAGP ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ClinVar PMID:18435799, PMID:18701883, PMID:21480479, PMID:25741868 NCBI chr11:69,817,540...69,825,579 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 IAGP ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar
OMIM
PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779, PMID:28492532 NCBI chr 2:63,119,559...63,588,733
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
Congenital Macroglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:7832988, PMID:8051923, PMID:8698850, PMID:8892022, PMID:9323575, PMID:9439663, PMID:9470816, PMID:9686374, PMID:10071185, PMID:10657402, PMID:10803677, PMID:11156223, PMID:11350878, PMID:11555601, PMID:11895907, PMID:11953843, PMID:11988088, PMID:12209976, PMID:12360106, PMID:12912951, PMID:15017333, PMID:15858133, PMID:16151913, PMID:16361556, PMID:17000685, PMID:17064846, PMID:17121937, PMID:17165084, PMID:17203168, PMID:17335544, PMID:17700593, PMID:18299612, PMID:18443386, PMID:18600527, PMID:19104657, PMID:19473056, PMID:19795123, PMID:19858398, PMID:20385995, PMID:20507294, PMID:20530282, PMID:20803296, PMID:20809970, PMID:20819423, PMID:21410976, PMID:21498394, PMID:21723269, PMID:21919607, PMID:22339448, PMID:22992668, PMID:23328581, PMID:23335937, PMID:23481061, PMID:23585145, PMID:23603345, PMID:23736036, PMID:23930673, PMID:24167597, PMID:24590654, PMID:24647007, PMID:24648345, PMID:24700034, PMID:24817302, PMID:24923815, PMID:25381393, PMID:25410891, PMID:25590979, PMID:25677447, PMID:25741868, PMID:26099996, PMID:26216193, PMID:26265035, PMID:26467025, PMID:26603945, PMID:26794347, PMID:26804652, PMID:26846104, PMID:26967565, PMID:27454530, PMID:27738344, PMID:27864592, PMID:28295243, PMID:28481884, PMID:28929491, PMID:29065426, PMID:29134491, PMID:29152729, PMID:30348537 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Congenital macroglossia ClinVar PMID:30311386 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I IAGP ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728, PMID:23324645, PMID:26637975 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,720,352...30,725,426
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 IAGP ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 ClinVar
OMIM
PMID:19182162, PMID:21262397, PMID:26637975 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Craniosynostosis and dental anomalies ClinVar
OMIM
PMID:21741611, PMID:25741868 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,650,702...34,661,892
Ensembl chr 9:34,650,702...34,661,892
JBrowse link
dental caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP RGD PMID:29594988 RGD:14928324 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IL1B interleukin 1 beta IAGP DNA:SNP: :rs1143627C>T (human) RGD PMID:30803280 RGD:14975276 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
dental fluorosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO mRNA, protein:increased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr12:32,679,296...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G FIS1 fission, mitochondrial 1 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:24958380 RGD:12437081 NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
JBrowse link
G MFN1 mitofusin 1 ISO mRNA, protein:decreased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
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 IAGP ClinVar Annotator: match by term: Denticles ClinVar PMID:12354781, PMID:18456718, PMID:26788535 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
Dental Pulp Exposure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD86 CD86 molecule ISO mRNA:increased expression:thalamus (rat)
mRNA:increased expression:periodontal ligament (rat)
RGD PMID:20171363, PMID:20113783 RGD:4892246, RGD:4892210 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr19:589,881...617,159
Ensembl chr19:589,881...617,159
JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 1:155,277,427...155,289,848
Ensembl chr 1:155,277,463...155,289,848
JBrowse link
G OPTN optineurin ISO mRNA:increased expression:dental pulp (rat) RGD PMID:16109995 RGD:7775038 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:brain, astrocyte RGD PMID:20043976 RGD:5508788 NCBI chr21:46,598,604...46,605,243
Ensembl chr21:46,598,604...46,605,208
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
IEA
mRNA:decreased expression:incisor, molar (mouse)
OMIM:125400 | OMIM:125420
MouseDO PMID:11116156 RGD:734904 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
G SMOC2 SPARC related modular calcium binding 2 IEA OMIM:125400 | OMIM:125420 MouseDO NCBI chr 6:168,441,153...168,667,992
Ensembl chr 6:168,441,151...168,673,445
JBrowse link
G SSUH2 ssu-2 homolog ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 3:8,619,400...8,745,035
Ensembl chr 3:8,619,400...8,745,040
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 IAGP ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth ClinVar
OMIM
PMID:22152679, PMID:23317772 NCBI chr 6:168,441,153...168,667,992
Ensembl chr 6:168,441,151...168,673,445
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 IAGP OMIM NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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 IAGP associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta
ClinVar PMID:7691343, PMID:7695699, PMID:8218237, PMID:9016532, PMID:17078022, PMID:19344236, PMID:24668929, PMID:25741868, PMID:25944380, PMID:27509835, PMID:28492532, PMID:29807018, PMID:11286811 RGD:11571615 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:26788535 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G DSPP dentin sialophosphoprotein IAGP
ISO
DNA:snp:intron:g.87612175G>A (human)
ClinVar Annotator: match by term: Hereditary Opalescent Dentin
mRNA:decreased expression:incisor, molar (mouse)
OMIM
ClinVar
PMID:11175779, PMID:11175790, PMID:14758537, PMID:15592686, PMID:18456718, PMID:22392858, PMID:25741868, PMID:11175790, PMID:11116156 RGD:12910984, RGD:734904 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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 IAGP DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)
ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta
ClinVar
OMIM
PMID:11175790, PMID:15592686, PMID:22392858, PMID:15690376 RGD:12911015 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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 IAGP ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis ClinVar
OMIM
PMID:16628197, PMID:16774985, PMID:20940358, PMID:21606396, PMID:22795705, PMID:22949226, PMID:24033266, PMID:25225338, PMID:25351510, PMID:25741868, PMID:26332594, PMID:26604139, PMID:26833927, PMID:28492532 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot
ClinVar
OMIM
PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:30285720, PMID:31680123 NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
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 IAGP ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr12:106,357,712...106,510,198
Ensembl chr12:106,357,748...106,510,198
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 IAGP ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar
OMIM
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:8696334 RGD:1598881 NCBI chr  X:69,616,086...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,594,384...66,639,303
Ensembl chr  X:66,595,637...66,639,298
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:25741868 NCBI chr 2:108,894,471...108,989,256
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr 2:218,874,116...218,893,931
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDAR ectodysplasin A receptor IAGP 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 term: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:10431241, PMID:11035039, PMID:15013427, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18854857, PMID:20236127, PMID:20979233, PMID:23401279, PMID:24033266, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532, PMID:10431241 RGD:1598883 NCBI chr 2:108,894,471...108,989,256
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated death domain IAGP
EXP
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17354266 NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr 2:108,786,733...108,885,485
Ensembl chr 2:108,786,757...108,885,477
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar
OMIM
PMID:10431241, PMID:11035039, PMID:11279189, PMID:15013427, PMID:15373768, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18816645, PMID:20236127, PMID:20979233, PMID:21771270, PMID:22032522, PMID:23401279, PMID:23991204, PMID:24641098, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532 NCBI chr 2:108,894,471...108,989,256
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated death domain IAGP
EXP
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9245989, PMID:11780064, PMID:17354266 NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr 2:108,719,446...108,785,809
Ensembl chr 2:108,719,482...108,785,809
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 IAGP ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar
OMIM
PMID:17354266, PMID:20222921, PMID:20979233, PMID:21626677, PMID:25741868, PMID:28492532 NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated death domain IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive ClinVar
OMIM
PMID:9245989, PMID:11780064, PMID:17354266, PMID:26991760 NCBI chr 1:236,394,286...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ClinVar
OMIM
PMID:27838789 NCBI chr 1:26,949,556...26,960,496
Ensembl chr 1:26,949,562...26,960,468
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 IAGP ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE OMIM
ClinVar
PMID:30425301 NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505
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 IAGP ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP DNA:mutation:splicing site:
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
ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia with immune deficiency
ClinVar
OMIM
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
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 LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: EEC SYNDROME 3 ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G LOC111162621 DeltaNp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ClinVar NCBI chr 3:189,786,613...189,789,801 JBrowse link
G TP63 tumor protein p63 IAGP
EXP
DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar
CTD
OMIM
PMID:8737655, PMID:9028452, PMID:9443880, PMID:10535733, PMID:10839977, PMID:10936828, PMID:11462173, PMID:12161593, PMID:12525544, PMID:12838557, PMID:12939657, PMID:16691622, PMID:17041931, PMID:17431922, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21204238, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:25983622, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:10535733, PMID:26470833, PMID:12161593, PMID:11903230 RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G TP63 tumor protein p63 ISO
IAGP
EXP
DNA:missense mutation:exon:p.R318H (mouse)
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
CTD Direct Evidence: marker/mechanism
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)
ClinVar
CTD
PMID:10535733, PMID:10839977, PMID:11462173, PMID:12525544, PMID:12939657, PMID:16691622, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:23775923, PMID:25983622, PMID:11462173, PMID:19903181, PMID:15324320 RGD:11568074, RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar PMID:890102, PMID:2260589, PMID:12776252, PMID:22739343, PMID:27663155, PMID:27745832 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar
OMIM
PMID:25741868, PMID:27745832 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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 IAGP ClinVar Annotator: match by term: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME OMIM
ClinVar
PMID:25741868, PMID:30290154 NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031
JBrowse link
G KCNK4-TEX40 KCNK4-TEX40 readthrough IAGP ClinVar Annotator: match by term: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME ClinVar PMID:25741868, PMID:30290154 NCBI chr11:64,291,722...64,304,769
Ensembl chr11:64,291,722...64,304,769
JBrowse link
Facial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:19427307 RGD:2325258 NCBI chr18:904,384...912,172
Ensembl chr18:904,871...912,172
JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:9813301 RGD:10047413 NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chr 3:46,210,699...46,266,706
Ensembl chr 3:46,163,604...46,266,706
JBrowse link
G CD59 CD59 molecule (CD59 blood group) ISO mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,491
Ensembl chr11:33,703,010...33,736,491
JBrowse link
G CSF1 colony stimulating factor 1 ISO protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
JBrowse link
G CTSS cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,188...150,765,792
JBrowse link
G GFRA1 GDNF family receptor alpha 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,273,467
JBrowse link
G HGF hepatocyte growth factor treatment ISO RGD PMID:21562589 RGD:8548634 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G MT3 metallothionein 3 treatment ISO RGD PMID:14625437 RGD:9685806 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
JBrowse link
G NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 ISO mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr 7:123,536,997...123,601,651
Ensembl chr 7:123,536,997...123,557,904
JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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 IAGP ClinVar Annotator: match by term: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION ClinVar
OMIM
PMID:29016863 NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320
JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Facial palsy ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Facial paralysis ClinVar PMID:30311386 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFAIP3 TNF alpha induced protein 3 IAGP ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar
OMIM
PMID:24728327, PMID:26642243, PMID:28492532 NCBI chr 6:137,866,317...137,883,312
Ensembl chr 6:137,867,214...137,883,312
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 IAGP ClinVar Annotator: match by term: Frontonasal dysplasia 3 ClinVar
OMIM
PMID:20451171, PMID:24467814, PMID:27324866, PMID:28492532 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
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 IAGP ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis ClinVar
OMIM
PMID:24831815 NCBI chr17:69,244,311...69,327,133
Ensembl chr17:69,244,311...69,327,244
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 IDA
IEA
IAGP
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 2:38,981,549...39,124,868
Ensembl chr 2:38,981,549...39,124,345
Ensembl chr 2:38,981,549...39,124,345
JBrowse link
G ZNF862 zinc finger protein 862 IAGP ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr 7:149,838,375...149,867,479
Ensembl chr 7:149,838,375...149,867,479
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 IAGP ClinVar Annotator: match by term: Gingival fibromatosis 1 ClinVar PMID:28686854 NCBI chr 4:56,907,900...56,935,847
Ensembl chr 4:56,907,876...56,966,808
Ensembl chr 4:56,907,876...56,966,808
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Hereditary gingival fibromatosis
ClinVar Annotator: match by term: Gingival fibromatosis 1
ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1
ClinVar
OMIM
PMID:11868160, PMID:14551916, PMID:16267129, PMID:16773572, PMID:17143282, PMID:17143285, PMID:17510059, PMID:17586837, PMID:18651097, PMID:18678287, PMID:18854871, PMID:18925667, PMID:18972187, PMID:19020799, PMID:19077116, PMID:19352411, PMID:19438935, PMID:19467855, PMID:19953625, PMID:20133692, PMID:20186801, PMID:20305546, PMID:20493809, PMID:20607846, PMID:20683980, PMID:21041952, PMID:21340158, PMID:21387466, PMID:21396583, PMID:21784453, PMID:22190897, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22551697, PMID:22585553, PMID:22589294, PMID:22604720, PMID:23165751, PMID:23487764, PMID:23665959, PMID:23673306, PMID:23885229, PMID:24033266, PMID:24037001, PMID:24451042, PMID:24522193, PMID:25073238, PMID:25180280, PMID:25712082, PMID:25741868, PMID:25802880, PMID:25862627, PMID:25864170, PMID:26249544, PMID:26297936, PMID:26467025, PMID:26580448, PMID:26708403, PMID:27153395, PMID:27304678, PMID:27763634, PMID:28378436, PMID:28492532, PMID:29493581, PMID:29625050, PMID:29696744, PMID:29752777, PMID:30311386 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,981,549...39,124,345
Ensembl chr 2:38,981,549...39,124,345
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 IAGP ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, 5 ClinVar
OMIM
PMID:28686854 NCBI chr 4:56,907,900...56,935,847
Ensembl chr 4:56,907,876...56,966,808
Ensembl chr 4:56,907,876...56,966,808
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 IAGP ClinVar Annotator: match by term: Gingival hemorrhage ClinVar PMID:32581362 NCBI chr 2:43,806,154...43,838,840
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Gingival hemorrhage ClinVar PMID:1301198, PMID:9232191, PMID:11359213, PMID:15146473, PMID:15365998, PMID:20490928, PMID:20506325, PMID:20567906, PMID:24211323, PMID:25218699, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11023675 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G PDGFB platelet derived growth factor subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Gingival hyperplasia ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
gingival hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12973667, PMID:14508707 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Gingival hypertrophy ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
gingival overgrowth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Gingival enlargement ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
gingivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FMOD fibromodulin IEP protein:increased expression:gingiva RGD PMID:15196146 RGD:2315079 NCBI chr 1:203,340,628...203,351,122
Ensembl chr 1:203,340,628...203,351,758
JBrowse link
G IL6 interleukin 6 IEP associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) RGD PMID:19186972 RGD:2307265 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 1:12,063,303...12,144,213
Ensembl chr 1:12,063,303...12,144,207
JBrowse link
G VEGFA vascular endothelial growth factor A IEP associated with Scleroderma, Systemic;protein:decreased expression:gingiva: RGD PMID:18206400 RGD:7421591 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
ClinVar Annotator: match by term: Odontotrichomelic syndrome
ClinVar
OMIM
PMID:9180938, PMID:9298746, PMID:23602711, PMID:24033266, PMID:25045128, PMID:23602711 RGD:9684854 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,178...69,249,327
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATAD1 GATA zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects ClinVar PMID:12402331, PMID:16086329, PMID:16088892, PMID:19105186, PMID:25525159, PMID:25741868, PMID:26387595, PMID:27302843, PMID:28492532, PMID:30733538, PMID:31374812, PMID:31831025 NCBI chr 7:92,447,448...92,494,631
Ensembl chr 7:92,447,482...92,460,075
JBrowse link
G PEX1