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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:Stomatognathic Diseases
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Accession:DOID:9001349 term browser browse the term
Definition:General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx.
Synonyms:exact_synonym: Dental Disease;   Mouth and Tooth Diseases;   dental diseases;   stomatognathic disease
 primary_id: MESH:D009057
 subset: RGD_JBrowse_slim


show annotations for term's descendants           Sort by:
Stomatognathic Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173 		JBrowse link
ablepharon macrostomia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ablepharon macrostomia syndrome		 OMIM
CTD
ClinVar		 PMID:2036354 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 More... NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750 		JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box 22 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome		 OMIM
CTD
ClinVar		 PMID:839509 PMID:22784330 PMID:25741868 NCBI chr  X:106,711,570...106,732,586
Ensembl chr  X:106,711,570...106,732,584 		JBrowse link
achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas achalasia, adrenocortical insufficiency, alacrimia susceptibility ISO RGD PMID:16098009 PMID:16098009 RGD:1598514, RGD:1598514 NCBI chr15:102,246,682...102,259,194
Ensembl chr15:102,246,687...102,259,206 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24997987 PMID:11837716 RGD:5147806 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphism (human)
DNA:SNP::rs28688207 (human)
DNA:polymorphism, haplotype
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24997987 PMID:11837716 PMID:30788115 PMID:30092016 RGD:5147806, RGD:14974238, RGD:14865011 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Lmna lamin A IAGP OMIM:200400 MouseDO NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal IAGP OMIM:200400 MouseDO NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 IAGP OMIM:200400 MouseDO NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr 9:121,471,782...121,502,020
Ensembl chr 9:121,471,782...121,502,020 		JBrowse link
Actinic Cheilitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:14,238,334...14,374,188
Ensembl chr13:14,237,817...14,374,188 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:67,928,353...68,114,596
Ensembl chr10:67,928,350...68,114,570 		JBrowse link
G Aspm abnormal spindle microtubule assembly ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Atm ataxia telangiectasia mutated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atr ataxia telangiectasia and Rad3 related treatment ISO RGD PMID:32001675 RGD:150340693 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123 		JBrowse link
G Bcor BCL6 interacting corepressor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma		 CTD
ClinVar		 PMID:23685749 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:47,430,235...47,496,945
Ensembl chr  X:47,430,235...47,496,926 		JBrowse link
G Brca1 breast cancer 1, early onset ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Brd1 bromodomain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr15:88,571,237...88,618,508
Ensembl chr15:88,571,237...88,618,436 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:110,941,977...110,951,121
Ensembl chr 8:110,942,297...110,951,118 		JBrowse link
G Cntn6 contactin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:104,469,566...104,840,367
Ensembl chr 6:104,469,751...104,840,367 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma		 CTD
ClinVar		 PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005 		JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:191,269,468...191,307,656
Ensembl chr 1:191,269,468...191,307,656 		JBrowse link
G Dtx4 deltex 4, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:12,443,700...12,479,509
Ensembl chr19:12,443,702...12,478,818 		JBrowse link
G Efhd1 EF hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:87,192,075...87,238,563
Ensembl chr 1:87,192,085...87,238,561 		JBrowse link
G En1 engrailed 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Erbin Erbb2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:103,955,294...104,057,094
Ensembl chr13:103,955,295...104,057,022 		JBrowse link
G Espl1 extra spindle pole bodies 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:102,204,688...102,232,792
Ensembl chr15:102,204,701...102,232,792 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma		 CTD
ClinVar		 PMID:23685749 PMID:26619011 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:104,808,083...104,820,138
Ensembl chr  X:104,807,885...104,818,545 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:26619011 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:14,901,348...15,441,976
Ensembl chr 6:14,901,348...15,441,976 		JBrowse link
G Gas2 growth arrest specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:51,511,560...51,644,753
Ensembl chr 7:51,511,763...51,644,723 		JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490 		JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:121,308,005...121,315,814
Ensembl chr 8:121,305,372...121,316,043 		JBrowse link
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541 		JBrowse link
G H2ac8 H2A clustered histone 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:23,754,837...23,755,394
Ensembl chr13:23,754,691...23,755,394 		JBrowse link
G Homer3 homer scaffolding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma		 CTD
ClinVar		 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633 		JBrowse link
G Il17rd interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr14:26,760,990...26,829,243
Ensembl chr14:26,760,898...26,829,243 		JBrowse link
G Insrr insulin receptor-related receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408 		JBrowse link
G Irx4 Iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727 		JBrowse link
G Isyna1 myo-inositol 1-phosphate synthase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:71,047,131...71,049,940
Ensembl chr 8:71,047,023...71,049,940 		JBrowse link
G Itgb4 integrin beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238 		JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:14615376 PMID:28492532 PMID:33040328 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:104,224,327...104,360,584
Ensembl chr11:104,224,055...104,359,687 		JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
G Kdm6a lysine (K)-specific demethylase 6A exacerbates ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple: (human)
DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)		 CTD
RGD		 PMID:23685749 PMID:31483290 PMID:23685749 RGD:150429736, RGD:150429732 NCBI chr  X:18,027,101...18,147,061
Ensembl chr  X:18,028,814...18,146,175 		JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23685749 PMID:31483290 RGD:150429736 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:100,022,585...100,026,775
Ensembl chr11:100,022,584...100,026,754 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:93,652,434...94,260,906
Ensembl chr 6:93,652,436...94,260,898 		JBrowse link
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790 		JBrowse link
G Maml3 mastermind like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:51,595,032...52,012,740
Ensembl chr 3:51,593,328...52,012,497 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:37,009,239...37,014,922
Ensembl chr10:37,009,371...37,014,916 		JBrowse link
G Mark2 MAP/microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
G Mga MAX gene associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062 		JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:79,376,079...79,395,229
Ensembl chr10:79,376,079...79,391,033 		JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:89,973,722...89,996,873
Ensembl chr 9:89,973,718...89,996,827 		JBrowse link
G Myb myeloblastosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883 		JBrowse link
G Mybl1 myeloblastosis oncogene-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:9,737,632...9,770,664
Ensembl chr 1:9,737,640...9,770,434 		JBrowse link
G Mycbp MYC binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:123,798,806...123,806,043
Ensembl chr 4:123,798,625...123,806,062 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Neto2 neuropilin (NRP) and tolloid (TLL)-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:86,363,347...86,428,011
Ensembl chr 8:86,363,217...86,427,553 		JBrowse link
G Nfib nuclear factor I/B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:82,208,410...82,424,988
Ensembl chr 4:82,208,410...82,623,987 		JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma		 CTD
ClinVar		 PMID:23685749 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Ntrk3 neurotrophic tyrosine kinase, receptor, type 3 treatment ISO RGD PMID:23027130 RGD:150519921 NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:7,786,061...7,790,649
Ensembl chr  X:7,786,061...7,790,649 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:96,736,772...96,778,242
Ensembl chr 3:96,736,600...96,778,242 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma		 CTD
ClinVar		 PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Pygb brain glycogen phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:150,628,716...150,673,668
Ensembl chr 2:150,628,655...150,673,678 		JBrowse link
G Rbfox2 RNA binding protein, fox-1 homolog (C. elegans) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Setd2 SET domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,361,665...110,447,701 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640 		JBrowse link
G Slc24a3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:145,009,695...145,484,086
Ensembl chr 2:145,009,674...145,484,086 		JBrowse link
G Slc3a2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma		 CTD
ClinVar		 PMID:23685749 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:150,799,386...150,844,969
Ensembl chr  X:150,799,424...150,845,690 		JBrowse link
G Son Son DNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:91,444,712...91,476,080
Ensembl chr16:91,444,394...91,476,109 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
G Sox4 SRY (sex determining region Y)-box 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:34,957,872...35,028,160
Ensembl chr 9:34,957,872...35,030,564 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tlk1 tousled-like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:70,542,751...70,656,505
Ensembl chr 2:70,542,751...70,656,072 		JBrowse link
G Top2a topoisomerase (DNA) II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015 		JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO ClinVar Annotator: match by term: Adenocystic carcinoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 More... RGD:8547828 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Uhrf1 ubiquitin-like, containing PHD and RING finger domains, 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:56,610,405...56,630,486
Ensembl chr17:56,610,321...56,630,486 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:89,803,429...89,891,146
Ensembl chr13:89,803,431...89,890,628 		JBrowse link
G Wnt5b wingless-type MMTV integration site family, member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:119,409,493...119,521,847
Ensembl chr 6:119,409,492...119,521,308 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chr 2:146,854,672...146,919,922
Ensembl chr 2:146,854,916...146,919,920 		JBrowse link
adenoid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A IMP RGD PMID:10489374 RGD:150540314 NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
aggressive periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 ISO mRNA:increased expression:saliva RGD PMID:20383335 RGD:14398489 NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10581027 PMID:10662808 PMID:11180012 PMID:14974080 PMID:15585850 More... NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-592C>A (rs1800872) (human)
protien:decreased expression:plasma		 RGD PMID:28662328 PMID:28868949 RGD:14975139, RGD:14975264 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1r2 interleukin 1 receptor, type II ISO associated with Periodontitis;
DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human)		 RGD PMID:18315432 PMID:24818754 RGD:8662884, RGD:8662885 NCBI chr 1:40,123,872...40,164,390
Ensembl chr 1:40,113,239...40,164,391 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Postn periostin, osteoblast specific factor IAGP OMIM:170650 | OMIM:608526 MouseDO NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO protein:increased expression:gingiva (human) RGD PMID:27176139 RGD:150429628 NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817 		JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 IAGP OMIM:202650 MouseDO NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279 		JBrowse link
G Trappc10 trafficking protein particle complex 10 IAGP OMIM:202650 MouseDO NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475 		JBrowse link
alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated migratory protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,318,999...74,324,833
Ensembl chr 1:74,318,999...74,323,897 		JBrowse link
G Abcb6 ATP-binding cassette, sub-family B member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,168,794...75,176,031
Ensembl chr 1:75,168,795...75,176,031 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,275,656...74,307,368
Ensembl chr 1:74,275,243...74,307,368 		JBrowse link
G Asic4 acid-sensing ion channel family member 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,426,467...75,450,984
Ensembl chr 1:75,427,080...75,450,987 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,157,509...75,168,654
Ensembl chr 1:75,157,504...75,168,840 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,401,272...74,408,482
Ensembl chr 1:74,401,267...74,408,480 		JBrowse link
G Cdk5r2 cyclin dependent kinase 5, regulatory subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,894,188...74,896,891
Ensembl chr 1:74,894,093...74,896,891 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,941,230...74,974,785
Ensembl chr 1:74,941,230...74,974,758 		JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,451,213...75,456,115
Ensembl chr 1:75,451,213...75,455,951 		JBrowse link
G Cnot9 CCR4-NOT transcription complex, subunit 9 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,545,192...74,570,001
Ensembl chr 1:74,545,217...74,570,001 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,112,406...75,119,374
Ensembl chr 1:75,111,198...75,119,355 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,929,093...74,938,001
Ensembl chr 1:74,929,093...74,932,302 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,430,625...74,436,444
Ensembl chr 1:74,430,668...74,436,444 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,752,311...74,777,056
Ensembl chr 1:74,752,733...74,777,051 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,285,209...75,294,648
Ensembl chr 1:75,284,540...75,294,634 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,920,660...74,924,632
Ensembl chr 1:74,920,668...74,924,578 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,174,178...75,187,460
Ensembl chr 1:75,174,880...75,187,457 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
OMIM:615510		 OMIM
CTD
ClinVar
MouseDO		 PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478 NCBI chr 1:75,412,555...75,419,823
Ensembl chr 1:75,412,574...75,419,823 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,316,269...74,318,868
Ensembl chr 1:74,317,709...74,318,783 		JBrowse link
G Ihh Indian hedgehog ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,433,469...74,433,553
Ensembl chr 1:74,433,469...74,433,553 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,939,817...74,939,880
Ensembl chr 1:74,939,817...74,939,880 		JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844 		JBrowse link
G Obsl1 obscurin-like 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,462,469...75,483,134
Ensembl chr 1:75,455,954...75,483,096 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,581,175...74,605,137
Ensembl chr 1:74,582,047...74,606,953 		JBrowse link
G Pnkd paroxysmal nonkinesiogenic dyskinesia ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,323,757...74,392,851
Ensembl chr 1:74,324,089...74,392,853 		JBrowse link
G Prkag3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,778,062...74,788,623
Ensembl chr 1:74,778,081...74,788,380 		JBrowse link
G Ptprn protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,223,679...75,241,437
Ensembl chr 1:75,223,671...75,241,146 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,248,841...75,255,059
Ensembl chr 1:75,248,843...75,255,059 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,119,432...75,124,553
Ensembl chr 1:75,119,422...75,124,557 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,632,907...74,640,556
Ensembl chr 1:74,632,907...74,640,556 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Slc23a3 solute carrier family 23 (nucleobase transporters), member 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,102,185...75,112,113
Ensembl chr 1:75,102,185...75,110,534 		JBrowse link
G Speg SPEG complex locus ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,351,931...75,408,964
Ensembl chr 1:75,351,941...75,408,964 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,187,463...75,192,250
Ensembl chr 1:75,187,482...75,192,250 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,640,583...74,676,053
Ensembl chr 1:74,640,604...74,676,053 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,327,406...74,343,495
Ensembl chr 1:74,327,406...74,344,781 		JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,456,115...75,462,337
Ensembl chr 1:75,456,176...75,462,349 		JBrowse link
G Ttll4 tubulin tyrosine ligase-like family, member 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,700,804...74,740,991
Ensembl chr 1:74,700,904...74,742,889 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,190,867...75,197,905
Ensembl chr 1:75,190,872...75,196,509 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,474,669...74,583,447
Ensembl chr 1:74,474,670...74,583,443 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,448,543...74,474,719
Ensembl chr 1:74,448,535...74,474,718 		JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
G Wnt6 wingless-type MMTV integration site family, member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,793,499...74,824,481
Ensembl chr 1:74,811,051...74,824,481 		JBrowse link
G Zfand2b zinc finger, AN1 type domain 2B ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:75,145,290...75,148,270
Ensembl chr 1:75,145,290...75,148,273 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 1:74,605,490...74,627,308
Ensembl chr 1:74,604,286...74,627,405 		JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr  X:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416 		JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant treatment ISO associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 9:22,038,023...22,047,042
Ensembl chr 9:22,038,023...22,047,007 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 treatment ISO associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr  X:21,350,863...21,355,072
Ensembl chr  X:21,350,783...21,355,403 		JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney treatment ISO CTD Direct Evidence: marker/mechanism
associated with hypertension, periodontal disease		 CTD
RGD		 PMID:20630305 PMID:33364953 RGD:329956421 NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IMP associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ctsk cathepsin K treatment ISO associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 treatment ISO associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459 		JBrowse link
G Il10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental
associated with periodontal disease		 RGD PMID:26270535 PMID:33364953 RGD:11049527, RGD:329956421 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il6 interleukin 6 treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Itgav integrin alpha V treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260 		JBrowse link
G Mas1 MAS1 oncogene treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Oscar osteoclast associated receptor treatment ISO associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 7:3,612,812...3,619,156
Ensembl chr 7:3,612,812...3,619,156 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 IMP RGD PMID:14630900 RGD:10413909 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma treatment ISO associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360 		JBrowse link
G Tnf tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental
associated with periodontal disease		 RGD PMID:26270535 PMID:33364953 RGD:11049527, RGD:329956421 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709 		JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 treatment ISO CTD Direct Evidence: marker/mechanism
associated with periodontal disease		 CTD
RGD		 PMID:19249596 PMID:33364953 RGD:329956421 NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483 		JBrowse link
G Vtn vitronectin treatment ISO associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr11:78,389,946...78,393,151
Ensembl chr11:78,389,917...78,393,150 		JBrowse link
amelogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802 		JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
RGD		 PMID:8406474 RGD:1300370 NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 4:84,185,041...84,593,236
Ensembl chr 4:84,193,332...84,593,512 		JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:129,910,002...129,916,311
Ensembl chr 5:129,909,997...129,916,311 		JBrowse link
G Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia		 CTD
ClinVar		 PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase IMP
ISO		 DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358 PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457 		JBrowse link
G Klk4 kallikrein related-peptidase 4 (prostase, enamel matrix, prostate) ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 7:43,530,584...43,535,228
Ensembl chr 7:43,530,584...43,535,228 		JBrowse link
G Lamb3 laminin, beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186 		JBrowse link
G Lamc2 laminin, gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta		 CTD
ClinVar		 PMID:25669657 PMID:35998423 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513 		JBrowse link
G Relt RELT tumor necrosis factor receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:25741868 PMID:30506946 PMID:32052416 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		JBrowse link
G Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350 		JBrowse link
G Sp6 trans-acting transcription factor 6 ISO RGD PMID:22676574 RGD:10047189 NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
OMIM:612529		 OMIM
CTD
ClinVar
MouseDO		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr72 WD repeat domain 72 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3
OMIM:613211		 OMIM
CTD
ClinVar
MouseDO		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More... NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22901946 PMID:25741868 NCBI chr 5:92,135,332...92,143,176
Ensembl chr 5:92,135,334...92,143,179 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5		 OMIM
CTD
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350 		JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A ClinVar PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More... NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G Lamb3 laminin, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA		 OMIM
CTD
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186 		JBrowse link
amelogenesis imperfecta type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:28492532 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G Enam enamelin ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
OMIM:104500		 CTD
ClinVar
MouseDO
OMIM
RGD		 PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... RGD:1598908 NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		JBrowse link
amelogenesis imperfecta type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908 		JBrowse link
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
OMIM:301200		 OMIM
CTD
ClinVar
MouseDO		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431 		JBrowse link
amelogenesis imperfecta type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambn ameloblastin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F		 OMIM
CTD
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 5:88,603,850...88,616,390
Ensembl chr 5:88,603,850...88,616,390 		JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin beta 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H		 OMIM
CTD
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987 		JBrowse link
amelogenesis imperfecta type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27843125 PMID:28513613 NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802 		JBrowse link
Amelogenesis Imperfecta Type 1K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp6 trans-acting transcription factor 6 ISO OMIM NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560 		JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk4 kallikrein related-peptidase 4 (prostase, enamel matrix, prostate) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1		 OMIM
CTD
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 7:43,530,584...43,535,228
Ensembl chr 7:43,530,584...43,535,228 		JBrowse link
amelogenesis imperfecta type 2A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr68 G protein-coupled receptor 68 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457 		JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA		 OMIM
CTD
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amtn amelotin ISO OMIM NCBI chr 5:88,523,967...88,533,775
Ensembl chr 5:88,523,967...88,533,775 		JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relt RELT tumor necrosis factor receptor ISO
IAGP		 ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
OMIM:618386		 OMIM
ClinVar
MouseDO		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		JBrowse link
amelogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM:606070		 OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:35,686,462...35,724,526
Ensembl chr18:35,695,191...35,726,888 		JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum ClinVar PMID:25741868 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO
IAGP		 ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OMIM:106260
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... RGD:11568643 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgr5 leucine rich repeat containing G protein coupled receptor 5 IAGP OMIM:106280 MouseDO NCBI chr10:115,286,219...115,423,685
Ensembl chr10:115,286,216...115,423,685 		JBrowse link
G Obsl1 obscurin-like 1 ISO ClinVar Annotator: match by term: Ankyloglossia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 1:75,462,469...75,483,134
Ensembl chr 1:75,455,954...75,483,096 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Tongue tie ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
anodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:26406231 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr19:30,523,276...30,526,896
Ensembl chr19:30,523,263...30,527,065 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More... NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Irx5 Iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 8:93,084,424...93,088,084
Ensembl chr 8:93,084,253...93,102,914 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Msx1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8696335 RGD:1600484 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:9536098 PMID:11827258 PMID:12605438 PMID:12786960 PMID:14571272 More... NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
G Slc25a21 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:11827258 PMID:28492532 NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257 		JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Anodontia of permanent dentition ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 5:130,274,573...130,284,371
Ensembl chr 5:130,274,572...130,284,371 		JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837 		JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
aplasia of lacrimal and salivary glands term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of		 OMIM
CTD
ClinVar		 PMID:15654336 PMID:16630169 PMID:17213838 PMID:25741868 PMID:28492532 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3, catalytic subunit, alpha isoform ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 NCBI chr 3:136,375,778...136,643,488
Ensembl chr 3:136,375,885...136,643,488 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr13:58,538,946...58,551,157
Ensembl chr13:58,538,956...58,551,157 		JBrowse link
G Med13l mediator complex subunit 13-like ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr 5:118,698,363...118,903,503
Ensembl chr 5:118,698,744...118,903,503 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480		 OMIM
CTD
ClinVar
MouseDO		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363 		JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr15:27,606,005...27,630,793
Ensembl chr15:27,542,721...27,630,779 		JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | 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
DNA:missense mutations:cds:p.P17T, p.V18P (human) 		OMIM
CTD
ClinVar
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 IAGP OMIM:268310 MouseDO NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
OMIM:268310
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr13:53,263,353...53,440,160
Ensembl chr13:53,263,348...53,440,160 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176 		JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,600,656...127,631,148
Ensembl chr 3:127,600,656...127,631,172 		JBrowse link
G Fam241a family with sequence similarity 241, member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,663,337...127,689,972
Ensembl chr 3:127,662,707...127,689,973 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998 		JBrowse link
G Mir302a microRNA 302a ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,145...127,339,213
Ensembl chr 3:127,339,145...127,339,213 		JBrowse link
G Mir302b microRNA 302b ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,338,877...127,338,950
Ensembl chr 3:127,338,877...127,338,950 		JBrowse link
G Mir302c microRNA 302c ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,012...127,339,079
Ensembl chr 3:127,339,012...127,339,079 		JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338 		JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,382...127,339,456
Ensembl chr 3:127,339,382...127,339,456 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,426,382...127,429,285
Ensembl chr 3:127,426,784...127,429,280 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IAGP		 ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:10502778 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994 		JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,582,524...127,592,043
Ensembl chr 3:127,583,454...127,625,813 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,347,080...127,411,672
Ensembl chr 3:127,347,138...127,411,672 		JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748 		JBrowse link
G Foxe1 forkhead box E1 ISO
IAGP		 ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 4:46,343,644...46,345,774
Ensembl chr 4:46,343,609...46,346,412 		JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barber-Say syndrome		 OMIM
CTD
ClinVar		 PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE		 OMIM
CTD
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk conserved helix-loop-helix ubiquitous kinase ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chr 7:44,526,189...44,544,771
Ensembl chr 7:44,526,189...44,542,136 		JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Ace angiotensin I converting enzyme susceptibility
no_association		 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928 PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037 		JBrowse link
G Apoa1 apolipoprotein A-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)		 RGD PMID:19782713 PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)		 RGD PMID:15501397 PMID:15009175 PMID:17067435 RGD:4892106, RGD:8551827, RGD:8551814 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008 		JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-DMa histocompatibility 2, class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,338,667...34,358,075
Ensembl chr17:34,338,515...34,358,075 		JBrowse link
G H2-DMb1 histocompatibility 2, class II, locus Mb1 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,372,165...34,379,203
Ensembl chr17:34,372,046...34,379,204 		JBrowse link
G H2-DMb2 histocompatibility 2, class II, locus Mb2 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,362,203...34,370,527
Ensembl chr17:34,362,281...34,370,529 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*15 (human)		 CTD
RGD		 PMID:12622781 PMID:20622878 PMID:23396137 RGD:7364918 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-M5 histocompatibility 2, M region locus 5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr17:37,294,677...37,308,847
Ensembl chr17:37,294,953...37,300,429 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 no_association
disease_progression		 ISO DNA:polymorphisms:cds:HLA-B*51 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
DNA:polymorphisms:cds:HLA-B*15 (human) 		RGD PMID:16101830 PMID:11426025 PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility
no_association		 ISO DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.R241G (human)		 CTD
RGD		 PMID:8712863 PMID:12074830 PMID:12808331 PMID:11409120 PMID:10792421 RGD:8158115, RGD:8547575, RGD:8158123 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Ifng interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:		 RGD PMID:21334264 PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment		 ISO
IDA		 DNA, protein:hypermethylation, decreased expression:promoter, serum
DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 More... RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Il18 interleukin 18 susceptibility
no_association		 ISO
IMP		 DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)		 RGD PMID:14727452 PMID:15234532 PMID:21532063 PMID:16273766 PMID:17055358 RGD:4889844, RGD:8655927, RGD:8655926, RGD:8655910, RGD:8655897 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);		 RGD PMID:22483685 PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839 		JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Irf8 interferon regulatory factor 8 susceptibility ISO DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)
protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)
DNA:Hypermethylation		 RGD PMID:26794091 PMID:28592884 PMID:28881647 RGD:329902077, RGD:329955373, RGD:329902079 NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433 		JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itgal integrin alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 7:126,895,404...126,934,309
Ensembl chr 7:126,895,432...126,934,310 		JBrowse link
G Itgam integrin alpha M ISO protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663 		JBrowse link
G Itgb2 integrin beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility
severity		 ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)		 RGD PMID:15730518 PMID:15693089 RGD:1582154, RGD:1582155 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330 NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049 PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092 PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association		 ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet disease
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)		 ClinVar
RGD		 PMID:28492532 PMID:19748964 PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility
no_association		 ISO DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)		 RGD PMID:11908569 PMID:21957880 PMID:15705632 PMID:16463158 RGD:7771576, RGD:7775050, RGD:7775048, RGD:7771577 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr 8:13,110,583...13,126,026
Ensembl chr 8:13,110,914...13,126,026 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)		 RGD PMID:22205606 PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)		 CTD
RGD		 PMID:23291587 PMID:20438790 PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tlr2 toll-like receptor 2 no_association
susceptibility		 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)		 RGD PMID:23908180 PMID:18336589 PMID:19796535 PMID:24255044 RGD:8552883, RGD:8552915, RGD:8552888, RGD:8552885 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117 		JBrowse link
G Tlr4 toll-like receptor 4 no_association
susceptibility		 ISO mRNA:increased expression:mononulcear cell:
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
DNA:SNP:3'UTR: rs7037117(human)		 RGD PMID:18234118 PMID:18336589 PMID:19796535 PMID:18408113 RGD:7777175, RGD:8552915, RGD:8552888, RGD:7777176 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (human)
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum		 RGD PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 More... RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease		 ClinVar
RGD		 PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787 RGD:7401213 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)		 RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637 		JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Bell's palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppia peptidylprolyl isomerase A exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:32149981 RGD:150429625 NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817 		JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO Ectodermal dysplasia-9 OMIA PMID:28011715 NCBI chr15:102,829,566...102,837,249
Ensembl chr15:102,829,538...102,837,249 		JBrowse link
G Plekha5 pleckstrin homology domain containing, family A member 5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 6:140,369,358...140,542,836
Ensembl chr 6:140,369,780...140,542,836 		JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547 		JBrowse link
Bisphosphonate-Associated Osteonecrosis of the Jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 treatment ISO associated with Multiple Myeloma RGD PMID:21396799 RGD:11041182 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 ClinVar
OMIM		 PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr 2:84,417,440...84,489,321
Ensembl chr 2:84,430,415...84,481,109
Ensembl chr 2:84,430,415...84,481,109 		JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa OMIM
ClinVar		 PMID:30528827 NCBI chr18:20,643,331...20,674,367
Ensembl chr18:20,643,331...20,680,516 		JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO
IAGP		 ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6
CTD Direct Evidence: marker/mechanism
OMIM:601216		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Scyl1 SCY1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:28150392 NCBI chr 9:122,780,146...122,847,798
Ensembl chr 9:122,780,111...122,847,798 		JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 2:26,951,648...26,962,173
Ensembl chr 2:26,951,648...26,962,191 		JBrowse link
Carey-Fineman-Ziter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 OMIM
ClinVar		 PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 NCBI chr 2:26,951,648...26,962,173
Ensembl chr 2:26,951,648...26,962,191 		JBrowse link
Carey-Fineman-Ziter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 OMIM
ClinVar		 PMID:35642635 NCBI chr17:45,911,887...45,913,122
Ensembl chr17:45,911,897...45,913,028 		JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 ClinVar PMID:35642635 NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980 		JBrowse link
Catel Manzke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr 2:43,445,270...43,572,734
Ensembl chr 2:43,445,341...43,572,734 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome		 OMIM
CTD
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr14:118,349,323...118,370,177
Ensembl chr14:118,349,323...118,370,167 		JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ric1 RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Catifa syndrome OMIM
ClinVar		 PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr19:29,499,637...29,583,909
Ensembl chr19:29,499,682...29,584,229 		JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome		 OMIM
CTD
ClinVar		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 ISO
IAGP		 ClinVar Annotator: match by term: Cerebral cavernous malformation 2
CTD Direct Evidence: marker/mechanism
OMIM:603284		 OMIM
ClinVar
CTD
MouseDO		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr11:6,547,814...6,556,059
Ensembl chr11:6,547,823...6,556,053 		JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 onset
exacerbates		 ISO
IAGP		 ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:deletion:CDS:c.506delA (human)
DNA:mutations:multiple (human)
DNA:SNPs:promoter: (rs9853967, rs11714980) (human)
DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)
DNA:mutations:SNPs, duplications, deletions:multiple (human)
DNA:deletions, nonsense mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304 NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163 		JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802 		JBrowse link
cerebrocostomandibular syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpb small nuclear ribonucleoprotein B ISO
IAGP		 ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA
CTD Direct Evidence: marker/mechanism
OMIM:117650
DNA:missense mutations:CDS:multiple (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More... RGD:155641254 NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323 		JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,581,112...108,582,265
Ensembl chr 5:108,581,110...108,582,314 		JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,666,420...108,697,893
Ensembl chr 5:108,666,420...108,697,890 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,405,067...33,432,348
Ensembl chr 5:33,405,067...33,432,338 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:35,213,922...35,245,183
Ensembl chr 5:35,214,110...35,245,183 		JBrowse link
G Fam193a family with sequence homology 193, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,527,295...34,643,800
Ensembl chr 5:34,527,277...34,643,800 		JBrowse link
G Fam53a family with sequence similarity 53, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,757,695...33,787,007
Ensembl chr 5:33,757,691...33,786,979 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,716,973...108,777,643
Ensembl chr 5:108,717,277...108,777,621 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,817,641...34,912,649
Ensembl chr 5:34,817,723...34,912,649 		JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,311,240...34,326,768
Ensembl chr 5:34,311,224...34,326,871 		JBrowse link
G Hgfac hepatocyte growth factor activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:35,198,853...35,205,805
Ensembl chr 5:35,198,853...35,205,805 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878 		JBrowse link
G Idua iduronidase, alpha-L ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423 		JBrowse link
G Letm1 leucine zipper-EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,897,017...33,940,061
Ensembl chr 5:33,897,017...33,940,161 		JBrowse link
G Maea macrophage erythroblast attacher ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,492,916...33,530,638
Ensembl chr 5:33,492,853...33,530,640 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,790,988...34,794,558
Ensembl chr 5:34,790,986...34,794,556 		JBrowse link
G Msantd1 Myb/SANT-like DNA-binding domain containing 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:35,071,581...35,084,333
Ensembl chr 5:35,065,356...35,081,183 		JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,331,231...34,345,076
Ensembl chr 5:34,331,227...34,345,064 		JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,153,328...34,163,260
Ensembl chr 5:34,153,328...34,163,260 		JBrowse link
G Nelfa negative elongation factor complex member A, Whsc2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,055,263...34,093,615
Ensembl chr 5:34,055,260...34,093,757 		JBrowse link
G Nicol1 NELL2 interacting cell ontogeny regulator 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,140,863...34,142,353
Ensembl chr 5:34,140,777...34,142,357 		JBrowse link
G Nkx1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,588,078...33,591,434
Ensembl chr 5:33,588,078...33,591,320 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,795,880...34,817,566
Ensembl chr 5:34,795,880...34,817,492 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,609,082...108,654,842
Ensembl chr 5:108,609,098...108,654,842 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,460,679...108,497,225
Ensembl chr 5:108,460,475...108,497,221 		JBrowse link
G Poln DNA polymerase N ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,164,523...34,326,870
Ensembl chr 5:34,164,523...34,326,792 		JBrowse link
G Rgs12 regulator of G-protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:35,106,273...35,196,988
Ensembl chr 5:35,106,789...35,196,988 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,875,971...108,922,933
Ensembl chr 5:108,877,156...108,922,848 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,493,594...34,510,789
Ensembl chr 5:34,493,633...34,512,973 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO
IAGP		 ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw
CTD Direct Evidence: marker/mechanism
OMIM:118400		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... RGD:1599339 NCBI chr 5:34,683,128...34,720,983
Ensembl chr 5:34,683,182...34,720,985 		JBrowse link
G Slbp stem-loop binding protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,797,399...33,809,918
Ensembl chr 5:33,792,296...33,809,918 		JBrowse link
G Slc26a1 solute carrier family 26 (sulfate transporter), member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,817,744...108,826,246
Ensembl chr 5:108,817,744...108,823,435 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,588,920...108,598,631
Ensembl chr 5:108,588,920...108,596,966 		JBrowse link
G Spon2 spondin 2, extracellular matrix protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,370,862...33,375,596
Ensembl chr 5:33,355,528...33,375,799 		JBrowse link
G Tacc3 transforming, acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,814,808...33,836,331
Ensembl chr 5:33,815,472...33,836,339 		JBrowse link
G Tmem129 transmembrane protein 129 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,810,560...33,815,321
Ensembl chr 5:33,810,560...33,815,760 		JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:108,777,649...108,795,636
Ensembl chr 5:108,777,636...108,796,648 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,653,440...34,671,323
Ensembl chr 5:34,653,431...34,671,335 		JBrowse link
G Uvssa UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:33,535,868...33,578,243
Ensembl chr 5:33,535,893...33,577,098 		JBrowse link
G Zfyve28 zinc finger, FYVE domain containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 5:34,352,237...34,445,796
Ensembl chr 5:34,352,237...34,445,793 		JBrowse link
Chronic Periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 susceptibility ISO DNA:SNP: :rs1935881(human) RGD PMID:25887438 RGD:14398485 NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 disease_progression ISO protein:increased expression:gingival crevicular fluid, gingvia RGD PMID:20151806 RGD:6483776 NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:gingival tissues (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20731768 PMID:21382035 RGD:6480655 NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Dab2ip disabled 2 interacting protein ISO associated with Porphyromonas gingivalis infection;DNA:SNP:CDS:rs10760187 (human) RGD PMID:25056994 RGD:401938645 NCBI chr 2:35,448,285...35,621,006
Ensembl chr 2:35,448,278...35,621,006 		JBrowse link
G Dsc1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:20,216,528...20,247,830
Ensembl chr18:20,217,241...20,247,928 		JBrowse link
G Dsg1a desmoglein 1 alpha ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:20,443,982...20,476,407
Ensembl chr18:20,443,868...20,476,407 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) no_association ISO DNA:polymorphism RGD PMID:15324358 PMID:15324358 RGD:10045837, RGD:10045837 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) RGD PMID:31055876 RGD:14975127 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il33 interleukin 33 ISO mRNA,protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Itgb2 integrin beta 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542 		JBrowse link
G Kcnk1 potassium channel, subfamily K, member 1 ISO DNA:SNP:CDS:rs11800854 (human) RGD PMID:25056994 RGD:401938645 NCBI chr 8:126,718,692...126,757,424
Ensembl chr 8:126,721,909...126,757,424 		JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29517812 RGD:21403685 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) no_association
severity		 ISO mRNA:increased expression:gingiva (human)
DNA:insertion:promoter:g.-1607insG (human)		 RGD PMID:22401717 PMID:15312099 PMID:12622858 RGD:7206856, RGD:7207046, RGD:7207045 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) no_association
severity		 ISO mRNA:increased expression:gingiva (human)
DNA:insertion:promoter:g.-1607insG (human)		 RGD PMID:12622858 PMID:15312099 PMID:22401717 RGD:7206856 RGD:7207045 RGD:7207046 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO mRNA:increased expression:gingival tissues (human)
associated with Atherosclerosis		 RGD PMID:21382035 PMID:24820783 RGD:6480655, RGD:13207324 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nes nestin ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr15:78,443,369...78,456,983
Ensembl chr15:78,443,367...78,456,983 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO protein:increased expression,'increased phosphorylation:gingiva (human) RGD PMID:30814594 RGD:127229937 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		JBrowse link
G Tlr2 toll-like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr3 toll-like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117 		JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr9 toll-like receptor 9 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif 20 ISO Cleft lip with or without cleft palate, ADAMTS20-related OMIA PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr15:94,166,177...94,329,966
Ensembl chr15:94,168,044...94,363,299 		JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 3:121,746,752...121,810,326
Ensembl chr 3:121,746,190...121,810,402 		JBrowse link
G Bhmt2 betaine-homocysteine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:93,792,605...93,810,810
Ensembl chr13:93,792,228...93,810,810 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)		 ClinVar
RGD		 PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495, RGD:13442497 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Cdh1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate		 ClinVar
RGD		 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 More... RGD:1599548 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:25741868 PMID:29805042 NCBI chr 2:84,417,440...84,489,321
Ensembl chr 2:84,430,415...84,481,109
Ensembl chr 2:84,430,415...84,481,109 		JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 8:106,856,658...106,863,825
Ensembl chr 8:106,856,951...106,863,606 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:38,971,725...39,062,532
Ensembl chr18:38,971,726...39,062,525 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human)		 CTD
RGD		 PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO
IAGP		 van der Woude syndrome, OMIM:119300
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:17041601 PMID:18836445 PMID:20436469 PMID:28492532 PMID:12219090 RGD:1600214 NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331 		JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G LOC109433675 Bmp4 promoter region ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr14:46,623,541...46,630,440 JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility
no_association		 ISO DNA:SNP:cds:1958G>A(human) RGD PMID:25129243 PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr12:76,301,180...76,366,594
Ensembl chr12:76,302,072...76,366,577 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)		 CTD
RGD		 PMID:16470725 PMID:27387868 RGD:11565179 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Mthfs 5, 10-methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:89,093,243...89,122,278
Ensembl chr 9:89,092,729...89,259,766 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)		 RGD PMID:25339627 PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr11:68,100,190...68,277,652
Ensembl chr11:68,100,190...68,291,649 		JBrowse link
G Plekha5 pleckstrin homology domain containing, family A member 5 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 6:140,369,358...140,542,836
Ensembl chr 6:140,369,780...140,542,836 		JBrowse link
G Plekha7 pleckstrin homology domain containing, family A member 7 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 7:115,722,722...115,907,617
Ensembl chr 7:115,722,720...115,907,611 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 2:32,126,321...32,145,017
Ensembl chr 2:32,126,602...32,145,017 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr15:32,920,869...33,034,867
Ensembl chr15:32,920,869...33,035,081 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human)		 CTD
RGD		 PMID:21254359 PMID:18797703 RGD:11565176 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant		 CTD
ClinVar		 PMID:16990542 NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993 		JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159 		JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant		 CTD
ClinVar		 PMID:16688749 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Tyms thymidylate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615 		JBrowse link
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 ClinVar PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr  X:94,463,919...94,488,446
Ensembl chr  X:94,463,924...94,488,478 		JBrowse link
G Bhmt2 betaine-homocysteine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:93,792,605...93,810,810
Ensembl chr13:93,792,228...93,810,810 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 4:84,185,041...84,593,236
Ensembl chr 4:84,193,332...84,593,512 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO
IMP		 CTD Direct Evidence: marker/mechanism
DNA:insertion		 CTD
RGD		 PMID:9787075 PMID:9787075 RGD:11576291 NCBI chr  X:13,383,319...13,713,020
Ensembl chr  X:13,383,319...13,717,606 		JBrowse link
G Cbfb core binding factor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 8:105,897,306...105,944,621
Ensembl chr 8:105,897,306...105,944,621 		JBrowse link
G Cdc42 cell division cycle 42 IAGP MouseDO NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031 		JBrowse link
G Chuk conserved helix-loop-helix ubiquitous kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)		 RGD PMID:20672350 PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Col2a1 collagen, type II, alpha 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)		 CTD
RGD		 PMID:15562585 PMID:20672350 RGD:12436724 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr16:31,482,261...31,692,174
Ensembl chr16:31,482,261...31,693,947 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Flnb filamin, beta susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342 		JBrowse link
G Gata6 GATA binding protein 6 IEP protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345 		JBrowse link
G Gli3 GLI-Kruppel family member GLI3 IMP RGD PMID:18816854 RGD:12738224 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Golgb1 golgin B1 IAGP MouseDO NCBI chr16:36,695,455...36,753,447
Ensembl chr16:36,695,502...36,753,447 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:25741868 NCBI chr 4:135,269,199...135,300,943
Ensembl chr 4:135,269,199...135,300,941 		JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 1:52,824,584...52,856,847
Ensembl chr 1:52,824,586...52,856,847 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Meg3 maternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33812962 NCBI chr12:109,506,879...109,538,163
Ensembl chr12:109,506,879...109,538,165 		JBrowse link
G Meis2 Meis homeobox 2 ISO DNA:mutations:cds:multiples RGD PMID:30291340 RGD:155598678 NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320 		JBrowse link
G Mnt max binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr11:74,721,651...74,736,551
Ensembl chr11:74,721,746...74,736,551 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959 RGD:5132609 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr12:76,301,180...76,366,594
Ensembl chr12:76,302,072...76,366,577 		JBrowse link
G Mthfs 5, 10-methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:89,093,243...89,122,278
Ensembl chr 9:89,092,729...89,259,766 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr11:84,770,996...84,802,052
Ensembl chr11:84,770,974...84,802,052 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:65,017,551...65,350,888
Ensembl chr18:65,020,776...65,350,899 		JBrowse link
G Nek9 NIMA (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr12:85,346,288...85,386,136
Ensembl chr12:85,346,288...85,386,136 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Pax9 paired box 9 IGI RGD PMID:17097601 RGD:12801424 NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: nonsyndromic cleft palate		 CTD
ClinVar		 PMID:18264099 PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 More... NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Pgap3 post-GPI attachment to proteins 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:30345601 NCBI chr11:98,279,498...98,292,022
Ensembl chr11:98,279,503...98,291,316 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr11:84,767,139...84,771,111
Ensembl chr11:84,767,141...84,771,111 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IMP RGD PMID:12975342 RGD:12910559 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Prmt1 protein arginine N-methyltransferase 1 IAGP MouseDO NCBI chr 7:44,626,179...44,635,844
Ensembl chr 7:44,625,413...44,635,992 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Rere arginine glutamic acid dipeptide (RE) repeats IMP RGD PMID:33772547 RGD:329849004 NCBI chr 4:150,365,372...150,706,423
Ensembl chr 4:150,366,103...150,706,423 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr13:53,263,353...53,440,160
Ensembl chr13:53,263,348...53,440,160 		JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 9:102,712,119...102,785,506
Ensembl chr 9:102,712,116...102,785,504 		JBrowse link
G Satb2 special AT-rich sequence binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate		 CTD
ClinVar		 PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 More... NCBI chr 1:56,833,145...57,019,350
Ensembl chr 1:56,833,140...57,017,809 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr15:32,920,869...33,034,867
Ensembl chr15:32,920,869...33,035,081 		JBrowse link
G Shh sonic hedgehog IGI RGD PMID:17097601 RGD:12801424 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Shox2 SHOX homeobox 2 IMP RGD PMID:16141225 RGD:12859081 NCBI chr 3:66,879,056...66,889,104
Ensembl chr 3:66,879,060...66,889,104 		JBrowse link
G Sim2 single-minded family bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr16:93,885,963...93,927,891
Ensembl chr16:93,885,790...93,927,891 		JBrowse link
G Six2 sine oculis-related homeobox 2 IAGP MouseDO NCBI chr17:85,970,276...85,995,682
Ensembl chr17:85,991,705...85,995,702 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:22426308 PMID:25741868 PMID:28973083 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like IAGP MouseDO NCBI chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993 		JBrowse link
G Tbx1 T-box 1 IMP RGD PMID:30121012 PMID:25556186 RGD:155631306, RGD:155641231 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tbx22 T-box 22 ISO cleft palate with ankyloglossia, OMIM:303400 RGD PMID:12374769 RGD:724722 NCBI chr  X:106,711,570...106,732,586
Ensembl chr  X:106,711,570...106,732,584 		JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 7:95,550,262...96,560,300
Ensembl chr 7:95,820,453...96,560,300 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7493022 PMID:26971374 PMID:17097601 RGD:12801424 NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Tyms thymidylate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615 		JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box 22 ISO ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 NCBI chr  X:106,711,570...106,732,586
Ensembl chr  X:106,711,570...106,732,584 		JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320 		JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr 7:98,138,515...98,151,038
Ensembl chr 7:98,138,490...98,151,388 		JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine (K)-specific demethylase 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies		 OMIM
CTD
ClinVar		 PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chr 4:136,277,844...136,330,127
Ensembl chr 4:136,277,851...136,330,034 		JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 9:92,421,828...92,490,481
Ensembl chr 9:92,424,276...92,490,481 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II IAGP OMIM:119570 MouseDO NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: LONP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More... NCBI chr17:56,921,297...56,933,903
Ensembl chr17:56,921,297...56,933,887 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A IAGP
ISO		 OMIM:135900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 MouseDO
CTD
ClinVar		 PMID:22426308 PMID:25741868 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome		 CTD
ClinVar
RGD		 PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More... RGD:11526783 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Kdm8 lysine (K)-specific demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 7:125,043,788...125,062,823
Ensembl chr 7:125,043,848...125,061,441 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability		 CTD
ClinVar		 PMID:18414213 PMID:22426308 PMID:28512736 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome		 CTD
ClinVar		 PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 More... NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 More... NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26543203 NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid1b AT-rich interaction domain 1B IAGP
ISO		 OMIM:135900
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12		 MouseDO
ClinVar
OMIM		 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 More... NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:15756273 PMID:17576681 PMID:18414213 PMID:18437052 More... NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Sox4 SRY (sex determining region Y)-box 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY (sex determining region Y)-box 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr15:99,600,175...99,611,872
Ensembl chr15:99,600,010...99,611,872 		JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chr 7:15,704,596...15,785,047
Ensembl chr 7:15,704,597...15,781,846 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Hr lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Derl3 Der1-like domain family, member 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr10:75,729,232...75,731,775
Ensembl chr10:75,729,247...75,731,775 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr10:75,759,056...75,768,336
Ensembl chr10:75,759,056...75,772,330 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 OMIM
ClinVar		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More... NCBI chr10:128,294,823...128,326,460
Ensembl chr10:128,295,117...128,326,351 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY (sex determining region Y)-box 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
Cone Rod Dystrophy Amelogenesis Imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)		 OMIM
CTD
ClinVar		 PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More... NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173 		JBrowse link
G LOC109115962 Fgf3 proximal promoter region ISO ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ClinVar PMID:18435799 PMID:21480479 PMID:22993869 PMID:25741868 PMID:28492532 More... NCBI chr 7:144,390,672...144,392,357 JBrowse link
Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction OMIM
ClinVar		 PMID:25741868 PMID:29016863 NCBI chr18:67,523,801...67,535,819
Ensembl chr18:67,523,787...67,535,819 		JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989 		JBrowse link
Congenital Macroglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Giant tongue ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Giant tongue ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition OMIM
ClinVar		 PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr17:36,144,812...36,149,193
Ensembl chr17:36,144,813...36,149,198 		JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule-associated protein, RP/EB family, member 2 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:31903734 NCBI chr18:23,885,390...24,026,918
Ensembl chr18:23,885,390...24,026,918 		JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin (CD79A) binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr  X:99,537,897...99,559,731
Ensembl chr  X:99,537,897...99,559,731 		JBrowse link
Craniomandibular Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase, STE24 IMP RGD PMID:19014358 RGD:10043096 NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438 		JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis IAGP OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies		 OMIM
CTD
ClinVar		 PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc1 centromere protein C1 ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 5:86,159,877...86,214,325
Ensembl chr 5:86,159,883...86,213,442 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ataxia telangiectasia and Rad3 related ISO ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More... NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
Deglutition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like-domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:57,266,162...57,430,539
Ensembl chr18:57,266,162...57,430,539 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:52,026,652...52,228,810
Ensembl chr 2:52,026,659...52,268,486 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:51,962,725...52,016,781
Ensembl chr 2:51,962,844...52,012,395 		JBrowse link
G Slc6a3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 ISO ClinVar Annotator: match by term: Dysphagia ClinVar NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791 		JBrowse link
G Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:35321494 NCBI chr 6:114,981,342...115,014,890
Ensembl chr 6:114,981,342...115,014,837 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 6:115,521,652...115,555,297
Ensembl chr 6:115,521,625...115,555,589 		JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 7:3,696,300...3,704,033
Ensembl chr 7:3,695,862...3,704,023 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920 		JBrowse link
G Uchl1 ubiquitin carboxy-terminal hydrolase L1 IAGP DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr 5:66,833,464...66,844,577
Ensembl chr 5:66,833,434...66,844,577 		JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) IMP RGD PMID:11555633 RGD:1302546 NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561 		JBrowse link
dental caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 interacting corepressor susceptibility ISO DNA:SNP: : rs17145638(human) RGD PMID:23470693 RGD:155631274 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:29594988 RGD:14928324 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNP: :rs1143627C>T (human) RGD PMID:30803280 RGD:14975276 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
dental enamel hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr cystic fibrosis transmembrane conductance regulator ISO RGD PMID:31942562 RGD:126928119 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
dental fluorosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO mRNA, protein:increased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823 		JBrowse link
G Fis1 fission, mitochondrial 1 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:24958380 RGD:12437081 NCBI chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088 		JBrowse link
G Mfn1 mitofusin 1 ISO mRNA, protein:decreased expression:frontal cortex (rat) RGD PMID:23007560 RGD:12738230 NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388 		JBrowse link
dental pulp calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Denticles | ClinVar Annotator: match by term: Pulpal dysplasia ClinVar PMID:12354781 PMID:18456718 PMID:25741868 PMID:26788535 PMID:28492532 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
Dental Pulp Exposure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd86 CD86 antigen ISO mRNA:increased expression:thalamus (rat)
mRNA:increased expression:periodontal ligament (rat)		 RGD PMID:20171363 PMID:20113783 RGD:4892246, RGD:4892210 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954 		JBrowse link
G Hcn2 hyperpolarization-activated, cyclic nucleotide-gated K+ 2 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr10:79,552,468...79,571,942
Ensembl chr10:79,552,468...79,571,942 		JBrowse link
G Hcn3 hyperpolarization-activated, cyclic nucleotide-gated K+ 3 ISO protein:increased expression:neuron: RGD PMID:17645513 RGD:9686147 NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503 		JBrowse link
G Optn optineurin ISO mRNA:increased expression:dental pulp (rat) RGD PMID:16109995 RGD:7775038 NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862 		JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO protein:increased expression:brain, astrocyte RGD PMID:20043976 RGD:5508788 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993 		JBrowse link
dentin dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein IEP
ISO		 mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11116156 RGD:734904 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
G Ssu2 ssu-2 homolog IAGP OMIM:125400 | OMIM:125420 MouseDO NCBI chr 6:112,336,283...112,365,160
Ensembl chr 6:112,336,285...112,364,984 		JBrowse link
Dentin Dysplasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smoc2 SPARC related modular calcium binding 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth		 OMIM
CTD
ClinVar		 PMID:22152679 PMID:23317772 PMID:25741868 NCBI chr17:14,499,768...14,625,052
Ensembl chr17:14,499,768...14,625,052 		JBrowse link
Dentin Dysplasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
dentinogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta		 ClinVar
RGD		 PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... RGD:11571615 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Dspp dentin sialophosphoprotein ISO
IAGP
IEP		 ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin
CTD Direct Evidence: marker/mechanism
OMIM:125490 | OMIM:125500
DNA:snp:intron:g.87612175G>A (human)
mRNA:decreased expression:incisor, molar (mouse)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:16199547 More... RGD:12910984, RGD:734904 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
Dentinogenesis Imperfecta, Shields Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta
DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)		 OMIM
CTD
ClinVar
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 More... RGD:12911015 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 special AT-rich sequence binding protein 1 ISO ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754 NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318 		JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome		 OMIM
CTD
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:63,143,284...63,520,787
Ensembl chr18:63,143,284...63,520,254 		JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:614258 PMID:20640464 PMID:21855841 PMID:22855961 PMID:25339210 More... NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126 		JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042 		JBrowse link
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like-domains 10 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10A, SEVERE VARIANT | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More... NCBI chr18:57,266,162...57,430,539
Ensembl chr18:57,266,162...57,430,539 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:96,375,936...96,420,786
Ensembl chr  X:96,377,446...96,420,822 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr 5:114,582,324...114,598,652
Ensembl chr 5:114,582,330...114,598,652 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr10:58,333,523...58,412,066
Ensembl chr10:58,333,770...58,412,066 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... RGD:1598883 NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		 CTD
ClinVar		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr10:58,091,240...58,141,421
Ensembl chr10:58,091,319...58,141,421 		JBrowse link
G Lims1 LIM and senescent cell antigen-like domains 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr10:58,159,164...58,260,513
Ensembl chr10:58,159,288...58,260,513 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
G Slc5a7 solute carrier family 5 (choline transporter), member 7 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr17:54,580,618...54,606,071
Ensembl chr17:54,580,618...54,606,062 		JBrowse link
G Sult1c1 sulfotransferase family, cytosolic, 1C, member 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr17:54,268,643...54,297,659
Ensembl chr17:54,268,643...54,297,702 		JBrowse link
G Sult1c2 sulfotransferase family, cytosolic, 1C, member 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr17:54,136,665...54,152,986
Ensembl chr17:54,136,665...54,153,367 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr10:58,333,523...58,412,066
Ensembl chr10:58,333,770...58,412,066 		JBrowse link
G Edar ectodysplasin-A receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		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 via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101 		JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:30425301 NCBI chr19:5,394,733...5,399,602
Ensembl chr19:5,394,733...5,399,602 		JBrowse link
ectodermal dysplasia and immune deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
RGD		 PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... RGD:12791265 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:54,939,774...55,061,155
Ensembl chr12:54,940,336...55,061,133 		JBrowse link
G Cfl2 cofilin 2, muscle ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:54,905,602...54,910,065
Ensembl chr12:54,905,594...54,909,662 		JBrowse link
G Fam177a family with sequence similarity 177, member A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,171,313...55,188,889
Ensembl chr12:55,171,254...55,188,889 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,327,594...55,350,024
Ensembl chr12:55,325,776...55,349,783 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318 		JBrowse link
G Psma6 proteasome subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,431,007...55,465,244
Ensembl chr12:55,431,007...55,465,239 		JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr12:55,127,318...55,162,152
Ensembl chr12:55,127,047...55,162,152 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111162622 DeltaNp63 promoter of tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ClinVar NCBI chr16:25,620,454...25,621,054 JBrowse link
G Trp63 transformation related protein 63 susceptibility ISO
IAGP		 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 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
OMIM:604292
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
Edentulous Mouth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1 colony stimulating factor 1 (macrophage) ISO RGD PMID:12379742 RGD:628338 NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse)		 CTD
ClinVar
RGD		 PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
Ehlers-Danlos syndrome periodontal type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1rb complement component 1, r subcomponent B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1		 OMIM
CTD
ClinVar		 PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130 		JBrowse link
G C1rl complement component 1, r subcomponent-like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:25741868 PMID:27745832 NCBI chr 6:124,470,072...124,487,602
Ensembl chr 6:124,470,072...124,487,602 		JBrowse link
G C1s1 complement component 1, s subcomponent 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:27745832 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318 		JBrowse link
Ehlers-Danlos syndrome periodontal type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130 		JBrowse link
G C1rl complement component 1, r subcomponent-like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:25741868 PMID:27745832 NCBI chr 6:124,470,072...124,487,602
Ensembl chr 6:124,470,072...124,487,602 		JBrowse link
G C1s1 complement component 1, s subcomponent 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27745832 PMID:28492532 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318 		JBrowse link
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk4 potassium channel, subfamily K, member 4 ISO ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | ClinVar Annotator: match by term: KCNK4-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:28492532 PMID:30290154 PMID:32165824 NCBI chr19:6,903,030...6,912,261
Ensembl chr19:6,901,334...6,911,883 		JBrowse link
Facial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:19427307 RGD:2325258 NCBI chr17:93,506,448...93,513,967
Ensembl chr17:93,506,445...93,513,965 		JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:9813301 RGD:10047413 NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 IMP RGD PMID:19922414 RGD:6892922 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726 		JBrowse link
G Cd59a CD59a antigen ISO mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 2:103,926,177...103,945,755
Ensembl chr 2:103,926,146...103,945,699 		JBrowse link
G Cd59b CD59b antigen ISO mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534 		JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) ISO protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785 		JBrowse link
G Ctss cathepsin S IMP RGD PMID:17539023 RGD:5686912 NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714 		JBrowse link
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr19:58,224,013...58,444,387
Ensembl chr19:58,224,036...58,444,341 		JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:21562589 RGD:8548634 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Mt3 metallothionein 3 treatment ISO RGD PMID:14625437 RGD:9685806 NCBI chr 8:94,879,235...94,880,776
Ensembl chr 8:94,879,235...94,880,774 		JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 ISO mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr 6:24,518,661...24,527,689
Ensembl chr 6:24,518,665...24,528,012 		JBrowse link
G Ret ret proto-oncogene ISO mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp9 matrix metallopeptidase 9 IEP associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
fissured tongue term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Plicated tongue ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Furrowed tongue ClinVar PMID:25741868 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO
IAGP		 ClinVar Annotator: match by term: Frontonasal dysplasia 3
OMIM:613456		 OMIM
ClinVar
MouseDO		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr10:102,834,564...102,865,501
Ensembl chr10:102,834,568...102,866,076 		JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 anthrax toxin receptor 1 susceptibility ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 6:87,110,835...87,312,757
Ensembl chr 6:87,110,835...87,312,803 		JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chr 5:24,043,942...24,049,143
Ensembl chr 5:24,043,942...24,049,159 		JBrowse link
gastroesophageal reflux disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552517 NCBI chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432 		JBrowse link
G Abcc8 ATP-binding cassette, sub-family C member 8 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457 		JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 3:32,762,695...32,781,122
Ensembl chr 3:32,760,447...32,781,122 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:esophagus (human) RGD PMID:17900656 RGD:11081162 NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18193101 PMID:20616304 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:24035193 NCBI chr 1:75,412,555...75,419,823
Ensembl chr 1:75,412,574...75,419,823 		JBrowse link
G Itga3 integrin alpha 3 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627 		JBrowse link
G Pla2g2a phospholipase A2, group IIA (platelets, synovial fluid) ISO RGD PMID:19672667 RGD:6482726 NCBI chr 4:138,559,168...138,562,500
Ensembl chr 4:138,559,171...138,562,497 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21451212 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Tac1 tachykinin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616304 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Trp63 transformation related protein 63 IAGP OMIM:109350 MouseDO NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca5 ATP-binding cassette, sub-family A member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis		 OMIM
CTD
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr11:110,160,195...110,228,542
Ensembl chr11:110,160,195...110,228,542 		JBrowse link
gingival disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fpr1 formyl peptide receptor 1 ISO ClinVar Annotator: match by term: Gingival disorder ClinVar PMID:17927965 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31534221 NCBI chr17:18,096,733...18,104,201
Ensembl chr17:18,096,733...18,104,202 		JBrowse link
gingival fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11868160 RGD:1580011 NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
G Zfp862-ps zinc finger protein 862, pseudogene ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr 6:48,481,273...48,511,766
Ensembl chr 6:48,481,271...48,511,766
Ensembl chr 6:48,481,271...48,511,766 		JBrowse link
Gingival Fibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Fibromatosis, gingival, 1 ClinVar PMID:28492532 PMID:28686854 NCBI chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9030684 PMID:9536098 PMID:10675333 PMID:11868160 PMID:14551916 More... NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
gingival fibromatosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663 NCBI chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279 		JBrowse link
Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023675 NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
gingival hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902 		JBrowse link
gingival overgrowth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Gingival enlargement ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
gingivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmod fibromodulin ISO protein:increased expression:gingiva RGD PMID:15196146 RGD:2315079 NCBI chr 1:133,964,992...133,976,018
Ensembl chr 1:133,964,992...133,976,015 		JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) RGD PMID:19186972 RGD:2307265 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Scleroderma, Systemic;protein:decreased expression:gingiva: RGD PMID:18206400 RGD:7421591 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO
IAGP		 ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions
CTD Direct Evidence: marker/mechanism
OMIM:166260
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More... RGD:11570566, RGD:11570556 NCBI chr 7:51,160,668...51,248,459
Ensembl chr 7:51,160,777...51,248,457 		JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 5:3,689,961...3,697,936
Ensembl chr 5:3,682,932...3,707,185 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 5:3,646,066...3,687,230
Ensembl chr 5:3,646,066...3,687,232 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		JBrowse link
HELIX syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: HELIX syndrome OMIM
ClinVar		 PMID:25741868 PMID:25741903 PMID:28686597 PMID:28771254 PMID:32860008 NCBI chr14:119,025,283...119,111,937
Ensembl chr14:119,025,320...119,112,901 		JBrowse link
Hemifacial Spasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO RGD PMID:30684712 RGD:14975126 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr11:96,256,547...96,259,082
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeobox B1 ISO ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 OMIM
ClinVar		 PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More... NCBI chr11:96,256,547...96,259,082
Ensembl chr11:96,256,578...96,259,082 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar		 PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More... NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar PMID:25637381 NCBI chr 1:143,516,435...143,525,675
Ensembl chr 1:143,516,402...143,530,352 		JBrowse link
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A IAGP
ISO
IMP		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia		 MouseDO
ClinVar
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:14398763 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Edar ectodysplasin-A receptor IAGP
ISO		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 MouseDO
ClinVar		 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 ClinVar
RGD		 PMID:20222921 PMID:20979233 PMID:21448560 PMID:21626677 PMID:25741868 More... RGD:14398762 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
G Traf6 TNF receptor-associated factor 6 IAGP OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 2:101,508,765...101,532,013
Ensembl chr 2:101,508,774...101,532,014 		JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126 		JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy		 CTD
ClinVar		 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr14:24,540,786...24,545,925
Ensembl chr14:24,537,193...24,547,027 		JBrowse link
Hypopharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod2 superoxide dismutase 2, mitochondrial susceptibility ISO DNA:polymorphism: :rs5746134(human) RGD PMID:21940907 RGD:8158078 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:27094857 PMID:28492532 PMID:28955726 More... NCBI chr 5:33,405,067...33,432,348
Ensembl chr 5:33,405,067...33,432,338 		JBrowse link
INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sobp sine oculis binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus		 OMIM
CTD
ClinVar		 PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr10:42,878,484...43,059,144
Ensembl chr10:42,878,496...43,050,526 		JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 NCBI chr 3:121,746,752...121,810,326
Ensembl chr 3:121,746,190...121,810,402 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 PMID:27018475 PMID:28492532 NCBI chr 4:135,269,199...135,300,943
Ensembl chr 4:135,269,199...135,300,941 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Satb2 special AT-rich sequence binding protein 2 IAGP
ISO		 OMIM:119540
ClinVar Annotator: match by term: Isolated cleft palate		 MouseDO
ClinVar		 PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr 1:56,833,145...57,019,350
Ensembl chr 1:56,833,140...57,017,809 		JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
Jaw Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12183386 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580747 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr17:66,230,060...66,258,198
Ensembl chr17:66,228,967...66,258,221 		JBrowse link
Jaw Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase severity ISO protein:increased expression:cyst, liquid (human) RGD PMID:20646237 RGD:6484123 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
Jaw Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO RGD PMID:17360473 RGD:1601201 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
jaw-winking syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr 2:49,509,298...49,664,790
Ensembl chr 2:49,509,310...49,664,790 		JBrowse link
G Myh10 myosin, heavy polypeptide 10, non-muscle ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr11:68,581,228...68,707,451
Ensembl chr11:68,582,385...68,707,458 		JBrowse link
Kapur Toriello Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Kapur-Toriello syndrome ClinVar PMID:25741868 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700018B08Rik RIKEN cDNA 1700018B08 gene ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,257,515...122,271,077
Ensembl chr 8:122,257,519...122,271,059 		JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO
IAGP		 ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
CTD Direct Evidence: marker/mechanism
DNA:deletions, SNPs:CDS:multiple (human)
DNA:mutations:CDS:multiple (human)
OMIM:148050		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:15378538 PMID:15523620 PMID:15955779 PMID:16199547 More... RGD:11068938, RGD:11086621 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997 		JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,276,182...122,305,607
Ensembl chr 8:122,276,179...122,305,545 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015 		JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499 		JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161 		JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472 		JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835 NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099 		JBrowse link
G Zcchc14 zinc finger, CCHC domain containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,325,442...122,379,662
Ensembl chr 8:122,325,442...122,379,640 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990 		JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
G Grm5 glutamate receptor, metabotropic 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 7:87,233,212...87,784,271
Ensembl chr 7:87,233,376...87,784,115 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 fermitin family member 1 IAGP
ISO		 OMIM:173650
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome		 MouseDO
CTD
ClinVar
OMIM		 PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 2:132,746,097...132,787,956
Ensembl chr 2:132,746,309...132,787,826 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930562C15Rik RIKEN cDNA 4930562C15 gene ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,653,280...4,685,555
Ensembl chr16:4,653,280...4,685,550 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069 		JBrowse link
G Cdip1 cell death inducing Trp53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,583,325...4,608,156
Ensembl chr16:4,568,212...4,608,156 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,782,152...4,796,827
Ensembl chr16:4,782,090...4,796,826
Ensembl chr16:4,782,090...4,796,826 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,412,217...4,443,076
Ensembl chr16:4,412,577...4,442,788 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,544,225...4,584,606
Ensembl chr16:4,544,225...4,584,606 		JBrowse link
G Mgrn1 mahogunin, ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160 		JBrowse link
G Nmral1 NmrA-like family domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,529,181...4,537,220
Ensembl chr16:4,527,923...4,537,220 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,756,975...4,758,892
Ensembl chr16:4,756,625...4,758,896 		JBrowse link
G Pam16 presequence translocase-asssociated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
G Rogdi rogdi homolog ISO
IAGP		 OMIM:226750
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome		 OMIM
MouseDO
CTD
ClinVar		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr16:4,826,593...4,831,438
Ensembl chr16:4,826,594...4,831,417 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,825,152...4,826,173
Ensembl chr16:4,825,152...4,826,173 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,294,843...4,359,772
Ensembl chr16:4,298,080...4,359,680 		JBrowse link
G Tfap4 transcription factor AP4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,362,525...4,378,625
Ensembl chr16:4,362,525...4,377,718 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,692,641...4,698,190
Ensembl chr16:4,692,642...4,698,179 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,457,809...4,469,030
Ensembl chr16:4,457,805...4,468,666 		JBrowse link
lacrimoauriculodentodigital syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 IAGP
ISO		 OMIM:149730
ClinVar Annotator: match by term: Levy-Hollister syndrome		 MouseDO
ClinVar		 PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
lacrimoauriculodentodigital syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 OMIM
ClinVar		 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
lacrimoauriculodentodigital syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome		 CTD
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr18:61,058,704...61,121,224
Ensembl chr18:61,058,690...61,121,224 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr10:60,017,349...60,057,936
Ensembl chr10:60,017,354...60,055,082 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Flnb filamin, beta ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816 		JBrowse link
lip cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
Lip Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:17238970 RGD:8662391 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Trp53 transformation related protein 53 ISO RGD PMID:17238970 RGD:8662391 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
Macroglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Macroglossia ClinVar PMID:25741868 NCBI chr11:77,419,988...77,516,185
Ensembl chr11:77,419,988...77,498,641 		JBrowse link
Macrostomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
Malocclusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin-like growth factor 1 disease_progression ISO RGD PMID:22758598 RGD:10045831 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO RGD PMID:22758598 RGD:10045831 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:22758598 RGD:10045831 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:increased expression:hippocampus (rat) RGD PMID:21751079 RGD:5686299 NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474 		JBrowse link
Malocclusion, Angle Class III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2b casein kinase 2, beta polypeptide ISO ClinVar Annotator: match by term: Hapsburg jaw ClinVar PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 NCBI chr17:35,335,171...35,341,029
Ensembl chr17:35,335,172...35,341,029 		JBrowse link
G Deaf1 DEAF1, transcription factor ISO ClinVar Annotator: match by term: Hapsburg jaw ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:140,877,089...140,918,758
Ensembl chr 7:140,877,093...140,907,603 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Hapsburg jaw ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573 		JBrowse link
G Erlec1 endoplasmic reticulum lectin 1 ISO ClinVar Annotator: match by term: Hapsburg jaw ClinVar NCBI chr11:30,812,794...30,904,385
Ensembl chr11:30,880,774...30,904,335 		JBrowse link
Mandibular Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273 		JBrowse link
Mandibular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Ctnnb1 catenin beta 1 ISO mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201 		JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:19,248,720...19,251,563
Ensembl chr 8:19,248,722...19,251,561 		JBrowse link
Maxillary Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
Maxillary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
Maxillofacial Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen, type III, alpha 1 ISO RGD PMID:10373016 RGD:704391 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16832597 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
Meier-Gorlin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp5 bone morphogenetic protein 5 IAGP OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chr 9:75,682,647...75,807,598
Ensembl chr 9:75,682,646...75,807,592 		JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737 		JBrowse link
G Cdc6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome		 CTD
ClinVar		 PMID:21358632 PMID:28492532 NCBI chr11:98,798,627...98,814,768
Ensembl chr11:98,798,627...98,814,766 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome		 CTD
ClinVar		 PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		JBrowse link
G Donson downstream neighbor of SON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31784481 NCBI chr16:91,463,744...91,485,702
Ensembl chr16:91,473,696...91,485,658 		JBrowse link
G Gmnn geminin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome		 CTD
ClinVar		 PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr13:24,935,828...24,954,222
Ensembl chr13:24,935,828...24,945,906 		JBrowse link
G Mcm3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 1:20,873,188...20,890,536
Ensembl chr 1:20,873,192...20,890,536 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 5:138,162,845...138,170,675
Ensembl chr 5:138,162,845...138,170,684 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome		 CTD
ClinVar		 PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr 4:108,436,651...108,472,030
Ensembl chr 4:108,436,620...108,472,030 		JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr 2:48,792,836...48,840,287
Ensembl chr 2:48,792,836...48,840,289 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome		 CTD
ClinVar		 PMID:21358632 PMID:25741868 NCBI chr 8:86,026,261...86,034,908
Ensembl chr 8:86,026,261...86,034,907 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr 8:85,987,014...86,026,146
Ensembl chr 8:85,987,021...86,026,431 		JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson downstream neighbor of SON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 NCBI chr16:91,463,744...91,485,702
Ensembl chr16:91,473,696...91,485,658 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition OMIM
ClinVar		 PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More... NCBI chr 4:108,436,651...108,472,030
Ensembl chr 4:108,436,620...108,472,030 		JBrowse link
Meier-Gorlin syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc4 origin recognition complex, subunit 4 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 More... NCBI chr 2:48,792,836...48,840,287
Ensembl chr 2:48,792,836...48,840,289 		JBrowse link
Meier-Gorlin syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 OMIM
ClinVar		 PMID:7710253 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:86,026,261...86,034,908
Ensembl chr 8:86,026,261...86,034,907 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr 8:85,987,014...86,026,146
Ensembl chr 8:85,987,021...86,026,431 		JBrowse link
Meier-Gorlin syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 OMIM
ClinVar		 PMID:11477602 PMID:11992493 PMID:16199547 PMID:18414213 PMID:21358631 More... NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		JBrowse link
Meier-Gorlin syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chr11:98,798,627...98,814,768
Ensembl chr11:98,798,627...98,814,766 		JBrowse link
Meier-Gorlin syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmnn geminin ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 OMIM
ClinVar		 PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 NCBI chr13:24,935,828...24,954,222
Ensembl chr13:24,935,828...24,945,906 		JBrowse link
Meier-Gorlin syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:27374770 PMID:28492532 PMID:29036220 PMID:30986546 NCBI chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737 		JBrowse link
Meier-Gorlin syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 OMIM
ClinVar		 PMID:25741868 PMID:28198391 PMID:28492532 NCBI chr 8:75,836,096...75,855,067
Ensembl chr 8:75,836,197...75,855,067 		JBrowse link
Melkersson-Rosenthal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Q1 histocompatibility 2, Q region locus 1 ISO protein:increased expression:peripheral blood (human) RGD PMID:32045706 RGD:329961316 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
Micrognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP-binding cassette, sub-family C member 9 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		JBrowse link
G Lemd2 LEM domain containing 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 PMID:30905398 NCBI chr17:27,408,574...27,426,228
Ensembl chr17:27,408,574...27,423,443 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Nog noggin ISO DNA:SNP:rs1348322(human) RGD PMID:20645637 RGD:12801465 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 7:101,859,153...101,887,771
Ensembl chr 7:101,859,415...101,887,774 		JBrowse link
G Pitx1 paired-like homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr13:55,972,857...55,984,002
Ensembl chr13:55,972,864...55,984,005 		JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:24194475 PMID:35614220 NCBI chr 2:156,705,042...156,715,483
Ensembl chr 2:156,705,048...156,715,483 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811 		JBrowse link
Moebius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 9:30,853,858...30,875,134
Ensembl chr 9:30,853,858...30,875,134 		JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:25741868 PMID:28492532 NCBI chr10:80,641,074...80,643,513
Ensembl chr10:80,641,077...80,643,482 		JBrowse link
G Bcdin3d BCDIN3 domain containing ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 NCBI chr15:99,367,965...99,372,611
Ensembl chr15:99,367,960...99,372,611 		JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 8:103,358,727...103,512,125
Ensembl chr 8:103,358,727...103,512,274 		JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 2:73,441,004...73,605,723
Ensembl chr 2:73,441,004...73,605,690 		JBrowse link
G Defb10 defensin beta 10 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 8:22,348,917...22,352,027
Ensembl chr 8:22,348,917...22,352,027 		JBrowse link
G Ebf3 early B cell factor 3 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 7:136,795,400...136,924,528
Ensembl chr 7:136,795,402...136,916,174 		JBrowse link
G Garin4 golgi associated RAB2 interactor family member 4 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 1:190,894,781...190,897,014
Ensembl chr 1:190,894,781...190,897,014 		JBrowse link
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:25741868 NCBI chr 1:53,846,031...54,234,193
Ensembl chr 1:53,846,035...54,234,327 		JBrowse link
G Hspb7 heat shock protein family, member 7 (cardiovascular) ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 4:141,148,090...141,152,621
Ensembl chr 4:141,148,090...141,152,622 		JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr  X:55,500,180...55,553,201
Ensembl chr  X:55,500,217...55,553,203 		JBrowse link
G Kbtbd7 kelch repeat and BTB (POZ) domain containing 7 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr14:79,663,951...79,668,479
Ensembl chr14:79,663,951...79,668,476 		JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr17:26,342,477...26,345,587
Ensembl chr17:26,342,474...26,345,587 		JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 2:118,535,484...118,559,140
Ensembl chr 2:118,537,998...118,558,919 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:25741868 NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 PMID:28915250 NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298 		JBrowse link
G Sim1 single-minded family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532 NCBI chr10:50,770,794...50,865,252
Ensembl chr10:50,770,850...50,865,248 		JBrowse link
G Zfp787 zinc finger protein 787 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar NCBI chr 7:6,134,488...6,162,382
Ensembl chr 7:6,134,490...6,158,996 		JBrowse link
Mouth Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion, haplotype: : (human) RGD PMID:16521944 RGD:12792248 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 no_association ISO DNA:deletion:: (human) RGD PMID:18449058 RGD:12792235 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
mouth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 breast cancer 1, early onset ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Chaf1a chromatin assembly factor 1, subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr17:56,347,404...56,375,027
Ensembl chr17:56,347,439...56,379,289 		JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr16:93,680,801...93,703,003
Ensembl chr16:93,680,789...93,703,003 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:serum RGD PMID:21625744 RGD:6482317 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 6:84,548,396...84,570,890
Ensembl chr 6:84,548,396...84,570,890 		JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr10:59,785,497...59,787,592
Ensembl chr10:59,785,491...59,787,656 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 4:40,722,468...40,734,965
Ensembl chr 4:40,722,150...40,737,149 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:14699553 RGD:10402103 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106 		JBrowse link
G Gss glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 2:155,405,101...155,434,730
Ensembl chr 2:155,405,101...155,434,730 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17682004 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
Mouth Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh1 alcohol dehydrogenase 1 (class I) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15138216 NCBI chr 3:137,983,346...137,996,459
Ensembl chr 3:137,966,752...137,996,459 		JBrowse link
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 3:137,903,828...137,937,803
Ensembl chr 3:137,923,521...137,939,143 		JBrowse link
G Akap11 A kinase anchor protein 11 ISO mRNA:increased expression:oral mucosa: RGD PMID:15849745 RGD:14348954 NCBI chr14:78,729,686...78,774,306
Ensembl chr14:78,729,686...78,774,248 		JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308 		JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 9:69,360,978...69,399,074
Ensembl chr 9:69,360,902...69,399,077 		JBrowse link
G Anxa5 annexin A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12509969 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Cbr3 carbonyl reductase 3 ISO mRNA:decreased expression:oral squamous cell carcinoma (human) RGD PMID:19088887 RGD:2316291 NCBI chr16:93,480,107...93,487,879
Ensembl chr16:93,480,103...93,487,878 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 no_association ISO DNA:polymorphism::2518G>A(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25199511 PMID:21570337 RGD:8661698 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism:cds:pV64I(human) RGD PMID:21570337 RGD:8661698 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33665778 NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591 		JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724 		JBrowse link
G Cryab crystallin, alpha B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22114726 NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490 		JBrowse link
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21103065 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
G Eno1 enolase 1, alpha non-neuron ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 4:150,321,165...150,333,336
Ensembl chr 4:150,321,178...150,333,336 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression:oral epithelium RGD PMID:17704947 RGD:2289941 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression:oral epithelium RGD PMID:17704947 RGD:2289941 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:polymorphisms:cds:p.D312N,K751Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Ets1 E26 avian leukemia oncogene 1, 5' domain disease_progression ISO associated with Diabetes Mellitus, Experimental;protein:increased expression: RGD PMID:17708355 RGD:2303822 NCBI chr 9:32,547,501...32,669,116
Ensembl chr 9:32,547,517...32,669,116 		JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239339 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fubp1 far upstream element (FUSE) binding protein 1 ISO mRNA:increased expression:oral cavity (human) RGD PMID:32481602 RGD:151361197 NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430 		JBrowse link
G Gm13377 predicted gene 13377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17599052 NCBI chr 2:21,049,620...21,144,493
Ensembl chr 2:21,049,619...21,146,765 		JBrowse link
G Gm40318 predicted gene, 40318 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31066245 NCBI chr 5:36,919,848...36,924,763
Ensembl chr 5:36,919,961...36,924,039 		JBrowse link
G Gpn1 GPN-loop GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr 5:31,652,085...31,670,250
Ensembl chr 5:31,652,085...31,670,248 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816970 NCBI chr 3:98,187,747...98,218,054
Ensembl chr 3:98,187,751...98,218,054 		JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 6:52,178,768...52,181,437
Ensembl chr 6:52,178,734...52,181,567 		JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO associated with Diabetes Mellitus;protein:increased expression:oral region
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24224046 PMID:19283661 RGD:2314840 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Hspa8 heat shock protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383 		JBrowse link
G Hspb1 heat shock protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24069166 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24349532 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19435901 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Krt6b keratin 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr15:101,584,458...101,588,728
Ensembl chr15:101,584,458...101,588,722 		JBrowse link
G Lamc3 laminin gamma 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr 2:31,777,293...31,839,095
Ensembl chr 2:31,777,303...31,836,551 		JBrowse link
G Lgals7 lectin, galactose binding, soluble 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 7:28,563,258...28,565,711
Ensembl chr 7:28,563,278...28,565,709 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr15:55,397,491...55,420,708
Ensembl chr15:55,397,490...55,421,144 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28501332 NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972152 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		JBrowse link
G Nras neuroblastoma ras oncogene disease_progression ISO associated with Diabetes Mellitus, Experimental RGD PMID:17708355 RGD:2303822 NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr19:41,900,310...41,907,104
Ensembl chr19:41,900,362...41,907,099 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant tumor of floor of mouth		 CTD
ClinVar		 PMID:17376864 PMID:21824802 PMID:22729224 PMID:24033266 PMID:24224046 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Plau plasminogen activator, urokinase ISO DNA:snp:3' utr:g.4065C>T (human) RGD PMID:15356878 RGD:7241146 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Malignant tumor of floor of mouth ClinVar PMID:1945792 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12969226 PMID:20051374 RGD:5135063 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25199511 NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129 		JBrowse link
G Rack1 receptor for activated C kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr11:48,691,187...48,697,068
Ensembl chr11:48,691,159...48,697,261 		JBrowse link
G Serpinb3d serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 1:107,005,893...107,011,210
Ensembl chr 1:107,005,897...107,011,236 		JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 4:133,327,867...133,329,163
Ensembl chr 4:133,327,867...133,329,479 		JBrowse link
G Sirt3 sirtuin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472714 NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial susceptibility ISO DNA:polymorphism: :rs4342445(human)
CTD Direct Evidence: marker/mechanism|therapeutic		 CTD
RGD		 PMID:12543247 PMID:15274141 PMID:21940907 RGD:8158078 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Tiam1 T cell lymphoma invasion and metastasis 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27862620 NCBI chr16:89,583,999...89,942,488
Ensembl chr16:89,583,999...89,940,657 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259 		JBrowse link
G Trp53 transformation related protein 53 ISO
EXP
IMP		 associated with Diabetes Mellitus, Experimental; protein:increased expression:oral epithelium
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19435901 PMID:24224046 PMID:17595763 PMID:16778087 RGD:2290572, RGD:8547873 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18538015 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18538015 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16757204 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408 		JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15274141 NCBI chr14:21,881,629...21,895,947
Ensembl chr14:21,875,306...21,895,947 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:haplotye:: RGD PMID:17290401 RGD:8552678 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia		 OMIM
CTD
ClinVar		 PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096 		JBrowse link
mucositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 PMID:17047649 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Elane elastase, neutrophil expressed ISO RGD PMID:9823937 RGD:10450554 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20881642 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1b interleukin 1 beta treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20844880 PMID:22984629 PMID:30987265 RGD:7204497, RGD:14975283 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:20844880 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO RGD PMID:21846355 RGD:5509078 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17488658 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Muc2 mucin 2 ISO protein:decreased expression:intestine RGD PMID:18998135 RGD:2303603 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430 		JBrowse link
G Muc4 mucin 4 ISO protein:decreased expression:intestine RGD PMID:18998135 RGD:2303603 NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression:jejunum (rat) RGD PMID:21846355 RGD:5509078 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:decreased expression:intestine: RGD PMID:21080177 RGD:10448991 NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
G Tff3 trefoil factor 3, intestinal ISO CTD Direct Evidence: therapeutic CTD PMID:19636011 NCBI chr17:31,344,280...31,348,585
Ensembl chr17:31,344,280...31,348,620 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:18803016 NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701 		JBrowse link
G Ulk1 unc-51 like kinase 1 treatment ISO RGD PMID:25732242 RGD:13208871 NCBI chr 5:110,932,355...110,957,991
Ensembl chr 5:110,932,354...110,957,963 		JBrowse link
multiple benign circumferential skin creases on limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr17:36,144,812...36,149,193
Ensembl chr17:36,144,813...36,149,198 		JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:159,173,315...159,281,072
Ensembl chr  X:159,173,686...159,281,066 		JBrowse link
G Bclaf3 Bclaf1 and Thrap3 family member 3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:158,315,639...158,376,077
Ensembl chr  X:158,309,684...158,376,077 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:160,080,852...160,124,208
Ensembl chr  X:160,070,452...160,149,248 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:158,155,174...158,172,617
Ensembl chr  X:158,155,174...158,172,924 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:158,771,200...158,906,342
Ensembl chr  X:158,771,429...158,906,347 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:158,197,488...158,281,954
Ensembl chr  X:158,197,568...158,281,753 		JBrowse link
G Nhs NHS actin remodeling regulator ISO
IAGP		 ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome
CTD Direct Evidence: marker/mechanism
OMIM:302350
DNA:snp, insertion, nonsense mutations:multiple (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:458526 PMID:2246772 PMID:9536098 PMID:14564667 PMID:15466011 More... RGD:1598795 NCBI chr  X:160,616,286...160,942,437
Ensembl chr  X:160,616,292...160,942,726 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 alpha 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:158,905,215...158,921,426
Ensembl chr  X:158,905,205...158,921,409 		JBrowse link
G Phka2 phosphorylase kinase alpha 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:159,284,900...159,384,772
Ensembl chr  X:159,285,162...159,381,874 		JBrowse link
G Ppef1 protein phosphatase with EF hand calcium-binding domain 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:159,404,997...159,534,286
Ensembl chr  X:159,406,090...159,518,761 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:160,500,032...160,562,490
Ensembl chr  X:160,500,065...160,562,492 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase polypeptide 3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:158,038,652...158,151,240
Ensembl chr  X:157,993,303...158,151,240 		JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:159,548,815...159,584,800
Ensembl chr  X:159,551,009...159,582,659 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:160,597,689...160,615,118
Ensembl chr  X:160,598,170...160,608,319 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:159,865,521...160,041,214
Ensembl chr  X:159,865,521...160,041,209 		JBrowse link
G Sh3kbp1 SH3-domain kinase binding protein 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:158,409,888...158,758,916
Ensembl chr  X:158,410,268...158,761,065 		JBrowse link
Nasopharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 onset ISO DNA:polymorphism: :870A>G RGD PMID:18355450 RGD:2296033 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ctps1 cytidine 5'-triphosphate synthase 1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:19302751 RGD:5132859 NCBI chr 4:120,397,065...120,427,473
Ensembl chr 4:120,397,065...120,427,473 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16377082 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17032313 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786012 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm ClinVar PMID:17525745 PMID:18552176 PMID:22238366 PMID:23002168 PMID:23908597 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17607721 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Rassf2 Ras association (RalGDS/AF-6) domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chr 2:131,834,770...131,872,336
Ensembl chr 2:131,831,335...131,872,178 		JBrowse link
G Tnfrsf19 tumor necrosis factor receptor superfamily, member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr14:61,201,283...61,284,304
Ensembl chr14:61,201,324...61,283,939 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 More... RGD:1331525 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr10:120,869,909...120,936,547
Ensembl chr10:120,869,865...120,936,555 		JBrowse link
nasopharyngitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO mRNA:decreased expression:epithelium of nasopharynx RGD PMID:23001130 RGD:150523839 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
nasopharynx carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A disease_progression ISO protein:decreased expression:nasopharynx(human) RGD PMID:31213911 RGD:126781707 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Atm ataxia telangiectasia mutated treatment ISO protein:decreased expression:epithelium of nasopharynx (human)
associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human)		 RGD PMID:29230817 PMID:28820634 PMID:19142888 RGD:126779560, RGD:150340692, RGD:126790562 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atr ataxia telangiectasia and Rad3 related treatment ISO RGD PMID:28820634 RGD:150340692 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Brca1 breast cancer 1, early onset ISO DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:33096113 RGD:151347855 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Calr calreticulin exacerbates
disease_progression		 ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:31632490 PMID:31956372 RGD:150520157, RGD:150521689 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Ccnd2 cyclin D2 disease_progression ISO RGD PMID:20473882 RGD:151665334 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:nasopharynx, macrophage (human) RGD PMID:28395580 RGD:127285800 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Chrna5 cholinergic receptor, nicotinic, alpha polypeptide 5 susceptibility ISO DNA:SNP: :rs3841324(human) RGD PMID:25329654 RGD:150527838 NCBI chr 9:54,888,112...54,918,704
Ensembl chr 9:54,888,164...54,915,063 		JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP: :rs401681(human)
DNA:SNP:intron:rs31489(human)
DNA:SNP:intron:rs31489(human)
protein:increased expression:nasopharynx		 RGD PMID:26621837 PMID:31270100 PMID:26545403 PMID:26621837 RGD:11564613, RGD:150537099, RGD:11556976, RGD:11564613 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724 		JBrowse link
G Cr2 complement receptor 2 susceptibility ISO DNA:SNP:5'UTR:24T>C (rs3813946)(human) RGD PMID:23612877 RGD:127338247 NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024 		JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:22267178 RGD:150524299 NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression
exacerbates		 ISO mRNA:increased expression:nasopharynx (human)
protein:increased expression:nasopharynx (human)		 RGD PMID:26611644 PMID:15978137 RGD:152023644, RGD:152177484 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Dab2ip disabled 2 interacting protein disease_progression ISO mRNA,protein:decreased expression:epithelium of nasopharynx (human) RGD PMID:28586035 RGD:151665144 NCBI chr 2:35,448,285...35,621,006
Ensembl chr 2:35,448,278...35,621,006 		JBrowse link
G Ddr2 discoidin domain receptor family, member 2 ISO mRNA:increased expression:epithelium of nasopharynx RGD PMID:18023033 RGD:150429715 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331 		JBrowse link
G Efnb2 ephrin B2 disease_progression ISO protein:increased expression:nasopharynx (human) RGD PMID:23631129 RGD:153305949 NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:24825912 RGD:126781774 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO mRNA, protein:increased expression:ventral nasal meatus RGD PMID:21300475 RGD:126779603 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 severity ISO protein:increased expression:nasopharynx (human) RGD PMID:26535066 RGD:150520063 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Fosl2 fos-like antigen 2 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr 5:32,292,599...32,315,184
Ensembl chr 5:32,293,145...32,315,186 		JBrowse link
G Fubp1 far upstream element (FUSE) binding protein 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:26469968 RGD:11343512 NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS:p.P198L (human) RGD PMID:33616746 RGD:152995452 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO protein:decreased expression:nasopharynx (human) RGD PMID:26681223 RGD:150539449 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 no_association ISO DNA:SNP: :1270533T>G (human) RGD PMID:24711137 PMID:19448408 RGD:14700933, RGD:14700955 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Jak2 Janus kinase 2 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Kdm3a lysine (K)-specific demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr 6:71,565,954...71,609,963
Ensembl chr 6:71,565,956...71,609,974 		JBrowse link
G Kdr kinase insert domain protein receptor disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO RGD PMID:31646828 RGD:151356762 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ameliorates ISO DNA:SNP:promoter: -1304T>G, -1304G>G (human)
associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human)		 RGD PMID:27373035 PMID:21702039 RGD:150429759, RGD:150429763 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO human cell line in a mouse model RGD PMID:32449282 RGD:151665502 NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380 		JBrowse link
G Mir132 microRNA 132 treatment ISO RGD PMID:29442000 RGD:151665745 NCBI chr11:75,064,508...75,064,573
Ensembl chr11:75,064,508...75,064,573 		JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:nasopharynx RGD PMID:28000885 RGD:19165149 NCBI chr11:96,741,219...96,741,291
Ensembl chr11:96,741,219...96,741,291 		JBrowse link
G Mir154 microRNA 154 disease_progression ISO RNA:decreased expression:epithelium of nasopharynx (human) RGD PMID:32214824 RGD:152995464 NCBI chr12:109,704,867...109,704,932
Ensembl chr12:109,704,867...109,704,932 		JBrowse link
G Mir222 microRNA 222 ISO RNA:increased expression:nasopharynx RGD PMID:29115464 RGD:151708744 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210 		JBrowse link
G Mir31 microRNA 31 disease_progression
ameliorates		 ISO RNA:decreased expression:peripheral blood mononuclear cell (human)
Human cells in mouse model		 RGD PMID:31129965 PMID:25098679 RGD:152998936, RGD:152998921 NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899 		JBrowse link
G Mir423 microRNA 423 disease_progression ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr11:76,968,890...76,968,998
Ensembl chr11:76,968,890...76,968,998 		JBrowse link
G Mst1r macrophage stimulating 1 receptor (c-met-related tyrosine kinase) susceptibility ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 OMIM
ClinVar		 PMID:25741868 PMID:26951679 PMID:28492532 NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582 		JBrowse link
G Muc5b mucin 5, subtype B, tracheobronchial ISO RGD PMID:19068094 RGD:2325214 NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar PMID:10480349 PMID:11182931 PMID:11333381 PMID:11349231 PMID:12408188 More... NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) RGD PMID:31063269 RGD:150429622 NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817 		JBrowse link
G Rac1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:19506399 RGD:153350125 NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein severity ISO protein:increased expression:nasopharynx (human) RGD PMID:25026830 RGD:151361208 NCBI chr 6:119,878,781...119,899,789
Ensembl chr 6:119,879,659...119,899,789 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:10,617,796...10,628,230
Ensembl chr18:10,617,775...10,642,079 		JBrowse link
G Snrpe small nuclear ribonucleoprotein E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029 		JBrowse link
G Snrpf small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr10:93,418,891...93,425,520
Ensembl chr10:93,418,891...93,425,568 		JBrowse link
G Snrpg small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 6:86,348,522...86,355,884
Ensembl chr 6:86,348,286...86,356,310 		JBrowse link
G Spen spen family transcription repressor disease_progression ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:32641685 RGD:151347437 NCBI chr 4:141,195,199...141,265,955
Ensembl chr 4:141,195,201...141,265,908 		JBrowse link
G Src Rous sarcoma oncogene disease_progression ISO RGD PMID:27078847 RGD:150521726 NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tert telomerase reverse transcriptase ISO protein:increased expression:nasopharynx RGD PMID:26621837 RGD:11564613 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO human cells in mouse model RGD PMID:32774157 RGD:150429610 NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900 		JBrowse link
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 treatment ISO RGD PMID:26149137 RGD:151347434 NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar
OMIM
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 More... RGD:8547825 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression
severity		 ISO protein:increased expression:nasopharynx (human)
protein:increased expression:mucosa of nasopharynx (human)		 RGD PMID:16480593 PMID:23631129 PMID:30123088 RGD:126925191, RGD:153305949, RGD:149735327 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium RGD PMID:28607398 RGD:21081524 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 treatment
susceptibility
sexual_dimorphism 		ISO DNA:SNP:3'utr: (rs25489) (human)
DNA:missense mutation:cds: p.R194W (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human)
associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human)		 RGD PMID:29108254 PMID:17630853 PMID:24175791 PMID:27356695 PMID:16796765 RGD:150530619, RGD:150573708, RGD:150573698, RGD:150573697, RGD:150573694 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase, H+ transporting, lysosomal V0 subunit A4 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:38,025,418...38,101,521
Ensembl chr 6:38,025,418...38,101,521 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr10:127,337,505...127,344,692
Ensembl chr10:127,337,555...127,344,692 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d2b TBC1 domain family, member 2B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth OMIM
ClinVar		 PMID:25741868 PMID:32623794 PMID:38177409 NCBI chr 9:90,084,100...90,152,861
Ensembl chr 9:90,084,080...90,152,857 		JBrowse link
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw11 F-box and WD-40 domain protein 11 ISO ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31402090 NCBI chr11:32,592,595...32,696,816
Ensembl chr11:32,592,724...32,696,816 		JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Arl3 ADP-ribosylation factor-like 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611 		JBrowse link
G Fancc Fanconi anemia, complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Ptch1 patched 1 ISO
IAGP
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome | ClinVar Annotator: match by term: Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
OMIM:109400
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple		 CTD
ClinVar
MouseDO
RGD		 PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777 		JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr19:46,561,798...46,585,340
Ensembl chr19:46,561,804...46,586,505 		JBrowse link
G Shh sonic hedgehog IMP RGD PMID:9115210 RGD:12802345 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling IAGP
ISO		 OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 MouseDO
ClinVar		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr19:46,490,087...46,504,894
Ensembl chr19:46,490,141...46,505,287 		JBrowse link
G Wbp1l WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr19:46,587,545...46,645,828
Ensembl chr19:46,587,523...46,645,828 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:20301330 PMID:25741868 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:1758637 PMID:9030684 PMID:9536098 PMID:10675333 PMID:14551916 More... NCBI chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 Shoc2, leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 Shoc2, leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:multiple (human)
Noonan syndrome-like disorder with loose anagen hair 1;
DNA:mutation:cds:c.4A>G (p.S2G)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... RGD:155804265, RGD:11071098, RGD:11071178 NCBI chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chr 5:32,616,192...32,651,057
Ensembl chr 5:32,616,187...32,674,777 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculomaxillofacial dysostosis		 OMIM
CTD
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577 		JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
OMIM:164200 | OMIM:257850
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation:cds:p.P59H (human)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:12910132, RGD:1578474, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More... NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		JBrowse link
Oculoskeletodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 7:115,936,500...116,042,693
Ensembl chr 7:115,936,500...116,042,684 		JBrowse link
Odontochondrodysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Goldblatt syndrome OMIM
ClinVar		 PMID:20089971 PMID:23956106 PMID:25741868 PMID:28492532 PMID:29872333 More... NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526 		JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO OMIM NCBI chr 1:183,107,091...183,151,091
Ensembl chr 1:183,107,682...183,150,894 		JBrowse link
Odontogenic Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 IMP RGD PMID:19703995 RGD:12880040 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
Odontohypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, liver/bone/kidney ISO ClinVar Annotator: match by term: Low alkaline phosphatase | ClinVar Annotator: match by term: Odontohypophosphatasia ClinVar PMID:1409720 PMID:8675582 PMID:9452105 PMID:9536098 PMID:10094560 More... NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695 		JBrowse link
Odontoonychodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Odontoonychodermal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
Oligodontia-Colorectal Cancer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More... NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Gna13 guanine nucleotide binding protein, alpha 13 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr11:109,253,620...109,292,195
Ensembl chr11:109,253,657...109,292,195 		JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr11:109,116,174...109,189,013
Ensembl chr11:109,116,181...109,188,955 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM:300000		 OMIM
CTD
ClinVar
MouseDO		 PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:168,468,178...168,773,692
Ensembl chr  X:168,468,195...168,773,794 		JBrowse link
oral candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpb CCAAT/enhancer binding protein beta susceptibility IMP RGD PMID:26317211 RGD:11079756 NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338 		JBrowse link
G Il23a interleukin 23, alpha subunit p19 severity IMP RGD PMID:19204111 RGD:39457957 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621 		JBrowse link
G Lcn2 lipocalin 2 no_association IEP
IMP		 mRNA:increased expression:tongues: RGD PMID:24343647 PMID:24343647 RGD:126725083, RGD:126725083 NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835 		JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A IMP RGD PMID:26320658 RGD:11534569 NCBI chr 4:125,012,207...125,021,674
Ensembl chr 4:125,012,216...125,021,633 		JBrowse link
oral cavity cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:decreased activity:saliva: RGD PMID:16120121 RGD:152995281 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Chrnb4 cholinergic receptor, nicotinic, beta polypeptide 4 susceptibility ISO DNA:SNP: :rs578776(human) RGD PMID:24505444 RGD:151347542 NCBI chr 9:54,935,438...54,956,236
Ensembl chr 9:54,935,438...54,956,063 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:17461521 RGD:14700965 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:16721740 RGD:14700978 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:23057317 PMID:17418613 PMID:17461521 RGD:14700938, RGD:14700968, RGD:14700965 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO RGD PMID:22594240 PMID:14735473 RGD:14700997, RGD:14701001 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Sod3 superoxide dismutase 3, extracellular ISO RGD PMID:23057317 RGD:14700938 NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760 		JBrowse link
oral cavity carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nuf2 NUF2, NDC80 kinetochore complex component disease_progression ISO RGD PMID:27499128 RGD:28867233 NCBI chr 1:169,325,503...169,359,033
Ensembl chr 1:169,325,503...169,359,033 		JBrowse link
Oral Lichen Planus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:mouth mucosa: RGD PMID:16393252 RGD:9068457 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:16454813 RGD:7483584 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:increased expression:blood, T cell RGD PMID:23490419 RGD:8551821 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO RGD PMID:16454813 RGD:7483584 NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:mucosa: RGD PMID:12076323 RGD:8662419 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:mouth mucosa: RGD PMID:22236544 RGD:9589075 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Dnmt3b DNA methyltransferase 3B susceptibility ISO protein:increased expression:mouth mucosa:
DNA:polymorphism: :C46359T(human)		 RGD PMID:22236544 PMID:22236544 RGD:9589075, RGD:9589075 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Il18 interleukin 18 no_association ISO DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human)		 RGD PMID:17854431 PMID:17854431 RGD:8655868, RGD:8655868 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO RGD PMID:16476030 RGD:7794728 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1666936 RGD:8693327 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:blood RGD PMID:29813046 PMID:29276184 RGD:21081545, RGD:24922205 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mir19a microRNA 19a ISO RGD PMID:29813046 RGD:21081545 NCBI chr14:115,281,432...115,281,513
Ensembl chr14:115,281,432...115,281,513 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:22554030 RGD:8656000 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:monocyte,buccal mucosa: RGD PMID:21544941 RGD:8553047 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:oral epithelium: RGD PMID:22672741 RGD:7777153 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:increased expression:oral epithelium: RGD PMID:22672741 RGD:7777153 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Trp53 transformation related protein 53 ISO DNA:mutations: :
protein:increased expression:epithelium		 RGD PMID:12120703 PMID:16393253 RGD:8547838, RGD:8547841 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
oral mucosa leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ataxia telangiectasia mutated severity ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 PMID:18288488 RGD:150340604, RGD:150340709 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Axin2 axin 2 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 PMID:10873097 RGD:8662371, RGD:8662371 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:polymorphism:cds:p.K751Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2ax H2A.X variant histone disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Snai1 snail family zinc finger 1 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr 2:167,380,115...167,384,734
Ensembl chr 2:167,380,115...167,384,734 		JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:oral mucosa:
protein:increased expression:tongue:		 RGD PMID:23776093 PMID:12167434 RGD:8547855, RGD:8547871 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:polymorphism,haplotye:cds:p.R399Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
oral squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase severity ISO DNA:mutations RGD PMID:16676365 RGD:126925209 NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239 		JBrowse link
G Ada adenosine deaminase disease_progression ISO RGD PMID:27221867 RGD:152995268 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 disease_progression ISO RGD PMID:26464646 RGD:11526681 NCBI chr10:126,911,154...126,929,039
Ensembl chr10:126,911,153...126,929,038 		JBrowse link
G Angpt1 angiopoietin 1 ISO protein:decreased expression:oral mucosa (human) RGD PMID:26044849 RGD:153323290 NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373 		JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:oral mucosa (human) RGD PMID:26044849 RGD:153323290 NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578 		JBrowse link
G Arid2 AT-rich interaction domain 2 disease_progression ISO RGD PMID:31918270 RGD:150340710 NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873 		JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B severity ISO protein:increased expression:oral mucosa (human) RGD PMID:26138391 RGD:11046268 NCBI chr 5:145,051,066...145,064,996
Ensembl chr 5:145,051,025...145,067,515 		JBrowse link
G Atm ataxia telangiectasia mutated disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 PMID:18288488 RGD:150340604, RGD:150340709 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atp6v1c1 ATPase, H+ transporting, lysosomal V1 subunit C1 ISO RGD PMID:26984774 RGD:14700648 NCBI chr15:38,662,096...38,692,688
Ensembl chr15:38,662,177...38,692,690 		JBrowse link
G Axin1 axin 1 disease_progression ISO protein:decreased expression:oral epithelium (human)
mRNA:increased expression:oral epithelium (human)		 RGD PMID:17143481 PMID:21393552 RGD:150530474, RGD:150530486 NCBI chr17:26,350,294...26,414,784
Ensembl chr17:26,357,662...26,414,785 		JBrowse link
G Axin2 axin 2 susceptibility
ameliorates
disease_progression		 ISO DNA:SNP:intron: C>T (rs3923087)(human) RGD PMID:21393552 PMID:33046030 PMID:33046030 RGD:150530486, RGD:151356656, RGD:151356656 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc ISO protein:increased expression:saliva
protein:decreased expression:saliva		 RGD PMID:29199150 PMID:33564003 RGD:153350131, RGD:153350144 NCBI chr 5:137,979,783...137,988,495
Ensembl chr 5:137,979,782...137,988,495 		JBrowse link
G Barhl2 BarH like homeobox 2 ISO protein:decreased expression:mouth mucosa RGD PMID:27542258 RGD:14390167 NCBI chr 5:106,600,389...106,606,032
Ensembl chr 5:106,600,389...106,606,032 		JBrowse link
G Bcl2l1 BCL2-like 1 ISO mRNA, protein:increased expression:mouth (human) RGD PMID:34111459 RGD:153344573 NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648 		JBrowse link
G Bhlhe41 basic helix-loop-helix family, member e41 treatment ISO Human cells in mouse model RGD PMID:27602964 RGD:151665310 NCBI chr 6:145,803,969...145,811,146
Ensembl chr 6:145,803,969...145,811,284 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO protein:increased expression:oral cavity (human) RGD PMID:20967871 RGD:152999012 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 disease_progression
ameliorates		 ISO protein:increased expression:oral cavity (human)
mRNA:increased expression:oral cavity (human)
protein:decreased expression:oral cavity (human)		 RGD PMID:23852810 PMID:20967871 PMID:29286141 PMID:21952624 RGD:152998980, RGD:152999012, RGD:152999009, RGD:152998987 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO protein:increased expression:oral cavity (human) RGD PMID:20967871 RGD:152999012 NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569 		JBrowse link
G Brinp2 bone morphogenic protein/retinoic acid inducible neural-specific 2 ISO DNA:amplication:oral epithelium RGD PMID:21334929 RGD:14398483 NCBI chr 1:158,072,835...158,185,096
Ensembl chr 1:158,072,839...158,183,896 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:24706327 RGD:14398491 NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase treatment ISO mRNA:increased expression:oral epithelium (human) RGD PMID:33640903 RGD:151347851 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Calr calreticulin exacerbates ISO protein:increased expression:oral epithelium (human)
protein:increased expression:mouth (human)		 RGD PMID:23375593 PMID:28599487 RGD:150521688, RGD:150520158 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO RGD PMID:30205384 RGD:18337270 NCBI chr 4:138,182,459...138,187,437
Ensembl chr 4:138,181,625...138,187,434 		JBrowse link
G Car12 carbonic anhydrase 12 disease_progression ISO RGD PMID:22172588 RGD:153352330 NCBI chr 9:66,619,026...66,674,127
Ensembl chr 9:66,620,968...66,674,127 		JBrowse link
G Cbx2 chromobox 2 disease_progression ISO RGD PMID:24885002 RGD:9586732 NCBI chr11:118,913,845...118,922,101
Ensembl chr11:118,913,788...118,922,096 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility
disease_progression		 ISO DNA:polymorphism,haplotype::2518A>G(human)
associated with social isolation;protein:increased expression:tongue (rat)		 RGD PMID:21883707 PMID:33411841 RGD:8661694, RGD:152998999 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21883707 RGD:8661694 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component ISO mRNA:altered expression: tongue, oral cavity (human) RGD PMID:24257751 RGD:150537040 NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
G Cdh1 cadherin 1 disease_progression ISO RGD PMID:26464646 RGD:11526681 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A susceptibility
no_association
disease_progression		 ISO DNA:polymorphism:exon:149A>G(human)
DNA:polymorphism: :98C>A(human)		 RGD PMID:10873097 PMID:18251939 PMID:15817070 PMID:10873097 RGD:8662371, RGD:8662395, RGD:8662374, RGD:8662371 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cers1 ceramide synthase 1 exacerbates IMP RGD PMID:33753723 RGD:156431057 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B disease_progression ISO protein:increased expression:mouth mucosa: RGD PMID:22882088 RGD:9587477 NCBI chr16:93,680,801...93,703,003
Ensembl chr16:93,680,789...93,703,003 		JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP: :rs402710(human) RGD PMID:28025427 RGD:150530487 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724 		JBrowse link
G Ctnnd1 catenin delta 1 disease_progression ISO RGD PMID:26464646 RGD:11526681 NCBI chr 2:84,417,440...84,489,321
Ensembl chr 2:84,430,415...84,481,109
Ensembl chr 2:84,430,415...84,481,109 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:22660220 RGD:14700952 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 susceptibility ISO DNA:SNP:exon: (rs2296241) (human) RGD PMID:22612324 RGD:151665337 NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:22954124 RGD:14700880 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Daxx Fas death domain-associated protein ameliorates ISO human cell line in a mouse model RGD PMID:26205068 RGD:152025200 NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564 		JBrowse link
G Ddr1 discoidin domain receptor family, member 1 ISO mRNA, protein:increased expression:mouth (human) RGD PMID:31253192 RGD:151347620 NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513 		JBrowse link
G Ddr2 discoidin domain receptor family, member 2 severity ISO RGD PMID:29945346 RGD:150429700 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331 		JBrowse link
G Dnmt3b DNA methyltransferase 3B disease_progression ISO RGD PMID:24625449 PMID:24625449 RGD:9589120, RGD:9589120 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Dock6 dedicator of cytokinesis 6 disease_progression ISO RGD PMID:34742001 RGD:155791563 NCBI chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
G Efnb2 ephrin B2 ISO protein:increased expression:oral mucosa (human) RGD PMID:26044849 RGD:153323290 NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:11673832 RGD:126781761 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:11673832 RGD:126781761 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:14595263 RGD:126781770 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit susceptibility ISO associated with oral mucosa leukoplakia
DNA:SNPs, haplotypes: :multiple		 RGD PMID:24122997 PMID:21697275 PMID:26807327 RGD:126779588, RGD:126781699, RGD:126779606 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Fat1 FAT atypical cadherin 1 onset IEP
ISO		 protein:increased expression:tongue (mouse)
DNA:mutations:multiple		 RGD PMID:30624777 PMID:28435450 RGD:151347668, RGD:151347687 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human) RGD PMID:30563911 RGD:38500239 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 severity ISO DNA:SNP:exon 9: p.G388R (human) RGD PMID:20127014 RGD:150520164 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Flt3 FMS-like tyrosine kinase 3 ISO mRNA:decreased expression:oral epithelium (human) RGD PMID:32048621 RGD:149735374 NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299 		JBrowse link
G Fosl2 fos-like antigen 2 ISO mRNA, protein:increased expression:mouth (human) RGD PMID:34111459 RGD:153344573 NCBI chr 5:32,292,599...32,315,184
Ensembl chr 5:32,293,145...32,315,186 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:27375172 RGD:13792673 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430 		JBrowse link
G Gpx1 glutathione peroxidase 1 exacerbates ISO protein:increased expression:oral cavity (human) RGD PMID:28653098 RGD:152995473 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gpx4 glutathione peroxidase 4 disease_progression ISO protein:increased expression:oral cavity (human) RGD PMID:28653098 RGD:152995473 NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta susceptibility ISO DNA:SNP:intron: (rs9879992) (human) RGD PMID:21393552 RGD:150530486 NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 severity ISO DNA:deletion: : (human) RGD PMID:22213390 PMID:14662415 RGD:12792245, RGD:14700962 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO mRNA,protein:decreased expression:mucosa: RGD PMID:16982972 RGD:10755432 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G H2ax H2A.X variant histone disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 IEP protein:increased expression:tongue (mouse) RGD PMID:30624777 RGD:151347668 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614 		JBrowse link
G Hp haptoglobin ISO protein:increased expression:saliva RGD PMID:29199150 RGD:153350131 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNP:promoter:-592A>C (human) RGD PMID:28157558 RGD:14975130 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il13ra2 interleukin 13 receptor, alpha 2 ISO RGD PMID:19065664 RGD:8549498 NCBI chr  X:146,166,474...146,214,982
Ensembl chr  X:146,166,472...146,212,188 		JBrowse link
G Il1b interleukin 1 beta disease_progression ISO associated with social isolation;protein:increased expression:tongue (rat) RGD PMID:33411841 RGD:152998999 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:10389944 RGD:8662949 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il6 interleukin 6 disease_progression ISO RGD PMID:24625449 RGD:9589120 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Jun jun proto-oncogene ISO mRNA, protein:increased expression:mouth (human) RGD PMID:34111459 RGD:153344573 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Junb jun B proto-oncogene ISO associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human) RGD PMID:28155253 RGD:151347666 NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D severity ISO RGD PMID:31660637 RGD:150521713 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Mcph1 microcephaly, primary autosomal recessive 1 ISO mRNA:protein:decreased expression:oral cavity, tissue (human) RGD PMID:23472065 RGD:9589036 NCBI chr 8:18,645,132...18,858,110
Ensembl chr 8:18,645,147...18,853,205 		JBrowse link
G Met met proto-oncogene ISO protein:increased expression, altered expression:mouth mucosa: RGD PMID:20662906 RGD:8548617 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO RGD PMID:30194167 PMID:28413645 PMID:29909906 RGD:21079420, RGD:24922225, RGD:21079468 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mir187 microRNA 187 ISO RNA:increased expression:plasma RGD PMID:27542258 RGD:14390167 NCBI chr18:24,562,167...24,562,227
Ensembl chr18:24,562,167...24,562,227 		JBrowse link
G Mir20a microRNA 20a ISO RGD PMID:26781875 RGD:26884343 NCBI chr14:115,281,589...115,281,695
Ensembl chr14:115,281,589...115,281,695 		JBrowse link
G Mir221 microRNA 221 exacerbates ISO RGD PMID:21226887 RGD:151708999 NCBI chr  X:19,012,533...19,012,627
Ensembl chr  X:19,012,533...19,012,627 		JBrowse link
G Mir222 microRNA 222 disease_progression
exacerbates		 ISO RGD PMID:31841247 PMID:21226887 RGD:151708741, RGD:151708999 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210 		JBrowse link
G Mir31 microRNA 31 treatment ISO RGD PMID:20233326 RGD:153297767 NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutation:cds:677C>T (human) RGD PMID:16365753 RGD:10449416 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Naip2 NLR family, apoptosis inhibitory protein 2 ISO protein:increased expression:oral cavity (human) RGD PMID:20967871 RGD:152999012 NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600 		JBrowse link
G Notch1 notch 1 IEP protein:increased expression:tongue (mouse) RGD PMID:30624777 RGD:151347668 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO protein:decreased expression:oral mucosa (human) RGD PMID:26044849 RGD:153323290 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Plau plasminogen activator, urokinase severity ISO protein:increased expression:oral mucosa (rat) RGD PMID:15878520 RGD:8547730 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
G Plcg1 phospholipase C, gamma 1 disease_progression
ameliorates		 ISO protein:decreased expression:oral cavity (human) RGD PMID:26464646 PMID:25085076 RGD:11526681, RGD:151356936 NCBI chr 2:160,573,230...160,617,680
Ensembl chr 2:160,573,220...160,617,680 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO protein:increased expression:saliva RGD PMID:29199150 RGD:153350131 NCBI chr 8:85,696,251...85,701,440
Ensembl chr 8:85,696,216...85,701,463 		JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO protein:increased expression:oral epithelium (human) RGD PMID:33109573 RGD:127285606 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptgis prostaglandin I2 (prostacyclin) synthase ISO mRNA,protein:decreased expression:mouth mucosa (human) RGD PMID:30532780 RGD:151347832 NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524 		JBrowse link
G Ptpn13 protein tyrosine phosphatase, non-receptor type 13 treatment ISO RGD PMID:21176871 RGD:152600900 NCBI chr 5:103,573,058...103,746,227
Ensembl chr 5:103,573,058...103,746,169 		JBrowse link
G Rad21 RAD21 cohesin complex component exacerbates ISO mRNA:decreased expression:oral cavity (human) RGD PMID:16416296 RGD:150520028 NCBI chr15:51,826,000...51,856,934
Ensembl chr15:51,825,636...51,855,143 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO protein:increased expression:mouth (human) RGD PMID:34111459 RGD:153344573 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 severity
disease_progression		 ISO protein:increased expression:oral mucosa (rat) RGD PMID:15878520 PMID:24999729 RGD:8547730, RGD:13208508 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Skp2 S-phase kinase-associated protein 2 ISO protein:increased expression:mucosa of oral region (human) RGD PMID:24743017 RGD:151665336 NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 severity ISO RGD PMID:23801167 RGD:151361213 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Tert telomerase reverse transcriptase susceptibility ISO DNA:SNPs: :rs2736100,rs2736098(human) RGD PMID:28025427 RGD:150530487 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO protein:decreased expression:oral epithelium (human) RGD PMID:24122999 RGD:150429611 NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900 		JBrowse link
G Tnf tumor necrosis factor disease_progression ISO associated with social isolation;protein:increased expression:tongue (rat) RGD PMID:33411841 RGD:152998999 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Trp53 transformation related protein 53 ISO
IEP		 DNA:missense mutations: :multiple
protein:increased expression:mouth (human)		 RGD PMID:27283772 PMID:34111459 RGD:14995497, RGD:153344573 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Ttr transthyretin ISO protein:increased expression:saliva (human) RGD PMID:23784731 RGD:151664609 NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:oral mucosa (human) RGD PMID:26044849 RGD:153323290 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Wnt11 wingless-type MMTV integration site family, member 11 susceptibility ISO DNA:SNP:exon: A>G (rs1533767) (human) RGD PMID:21393552 RGD:150530486 NCBI chr 7:98,484,293...98,503,954
Ensembl chr 7:98,484,319...98,504,402 		JBrowse link
oral submucous fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28984080 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:22752755 RGD:14701000 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO RGD PMID:18573513 PMID:22752755 RGD:14700981, RGD:14701000 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28984080 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16311067 PMID:10680515 RGD:7394849 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16311067 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:oral mucosa: RGD PMID:23776093 RGD:8547855 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26934322 NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467 		JBrowse link
Oral Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO associated with Behcet Syndrome;protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) RGD PMID:21719445 RGD:5147916 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
orofacial cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO DNA:missense mutation: :p.V496A (rs59088485) (human) RGD PMID:28543373 PMID:27229527 RGD:13831307, RGD:13831309 NCBI chr 2:155,359,963...155,404,663
Ensembl chr 2:155,359,868...155,427,644 		JBrowse link
G Axin2 axin 2 ISO DNA:SNP:cds:rs2240308(p.P50S)(human) RGD PMID:19119171 RGD:151356509 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 More... NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cep70 centrosomal protein 70 ISO ClinVar Annotator: match by term: Median cleft lip and palate ClinVar PMID:19254375 PMID:25741868 PMID:31680349 NCBI chr 9:99,065,640...99,205,569
Ensembl chr 9:99,125,420...99,182,457 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Orofacial clefting ClinVar PMID:25741868 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Fst follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr13:114,588,798...114,595,522
Ensembl chr13:114,588,826...114,595,487 		JBrowse link
G Gdf11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr10:128,716,393...128,727,587
Ensembl chr10:128,718,164...128,727,587 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 no_association ISO DNA:deletion: : (human) RGD PMID:11471167 RGD:12792251 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion:cds: (human) RGD PMID:11505167 RGD:12792210 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr10:62,218,916...62,259,490
Ensembl chr10:62,218,916...62,258,270 		JBrowse link
G Loxhd1 lipoxygenase homology domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217 PMID:23806086 PMID:26963285 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928 		JBrowse link
G Meis2 Meis homeobox 2 ISO DNA:mutations, haplotype insufficiency: : RGD PMID:24678003 RGD:155598680 NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320 		JBrowse link
G Msx1 msh homeobox 1 IAGP OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO DNA:SNPs
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)		 RGD PMID:18716610 PMID:17337617 PMID:19320731 PMID:19891592 RGD:12798509, RGD:12798514, RGD:12798512, RGD:12798511 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Phyh phytanoyl-CoA hydroxylase ISO DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human)
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate		 ClinVar
RGD		 PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... RGD:13831309 NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Facial cleft ClinVar PMID:25741868 NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		JBrowse link
G Tbx22 T-box 22 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:25741868 NCBI chr  X:106,711,570...106,732,586
Ensembl chr  X:106,711,570...106,732,584 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Vwa8 von Willebrand factor A domain containing 8 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr14:79,086,489...79,439,750
Ensembl chr14:79,086,492...79,439,750 		JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl1 ADAMTS-like 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 4:85,432,242...86,346,627
Ensembl chr 4:85,432,409...86,346,622 		JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 8:103,358,727...103,512,125
Ensembl chr 8:103,358,727...103,512,274 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 7:19,450,569...19,483,498
Ensembl chr 7:19,450,569...19,484,408 		JBrowse link
G Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947 		JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr11:68,100,190...68,277,652
Ensembl chr11:68,100,190...68,291,649 		JBrowse link
G Pvr poliovirus receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 7:19,637,503...19,655,068
Ensembl chr 7:19,637,503...19,655,085 		JBrowse link
G Runx2 runt related transcription factor 2 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684 		JBrowse link
G Ryk receptor-like tyrosine kinase ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar NCBI chr 9:102,712,119...102,785,506
Ensembl chr 9:102,712,116...102,785,504 		JBrowse link
G Taf1b TATA-box binding protein associated factor, RNA polymerase I, B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr12:24,548,580...24,608,570
Ensembl chr12:24,548,358...24,608,538 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:18414213 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		JBrowse link
orofacial cleft 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Orofacial cleft 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993 		JBrowse link
orofacial cleft 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: Orofacial cleft 11		 OMIM
CTD
ClinVar		 PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More... NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G LOC109433675 Bmp4 promoter region ISO ClinVar Annotator: match by term: Orofacial cleft 11 ClinVar NCBI chr14:46,623,541...46,630,440 JBrowse link
orofacial cleft 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx4 distal-less homeobox 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Orofacial cleft 15		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25954033 PMID:28492532 NCBI chr11:95,031,273...95,037,116
Ensembl chr11:95,031,273...95,037,089 		JBrowse link
orofacial cleft 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Orofacial cleft 5		 OMIM
CTD
ClinVar		 PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 More... NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
orofacial cleft 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:15317890 More... NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
orofacial cleft 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Orofacial cleft 8 OMIM
ClinVar		 PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
Oropharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972152 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO RGD PMID:11072161 RGD:8547874 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
oropharynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl15 C-X-C motif chemokine ligand 15 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signalling 1 disease_progression ISO RGD PMID:31187548 RGD:32716423 NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678 		JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:28347920 RGD:24922223 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
osteogenesis imperfecta type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr11:94,447,928...94,492,822
Ensembl chr11:94,447,928...94,492,697 		JBrowse link
G Col1a1 collagen, type I, alpha 1 IAGP
ISO		 OMIM:166200
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I		 MouseDO
ClinVar
OMIM		 PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth ClinVar PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:26478226 More... NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr11:94,535,798...94,544,611
Ensembl chr11:94,535,822...94,544,790 		JBrowse link
G Itga3 integrin alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr11:94,520,603...94,536,049
Ensembl chr11:94,520,593...94,536,042 		JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr11:94,544,593...94,552,758
Ensembl chr11:94,544,593...94,550,915 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase, isoenzyme 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr11:94,917,084...94,932,197
Ensembl chr11:94,917,084...94,932,180 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr11:94,882,038...94,897,724
Ensembl chr11:94,881,861...94,897,725 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr11:94,900,213...94,916,913
Ensembl chr11:94,900,705...94,916,913 		JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 More... NCBI chr11:94,853,603...94,867,153
Ensembl chr11:94,853,617...94,867,153 		JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr11:94,668,043...94,673,529
Ensembl chr11:94,668,043...94,673,529 		JBrowse link
G Xylt2 xylosyltransferase II ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr11:94,554,671...94,568,341
Ensembl chr11:94,554,677...94,568,341 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron		 OMIM
ClinVar
CTD
RGD		 PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 More... RGD:12904710 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant ClinVar PMID:25741868 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
Papillon-Lefevre disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... RGD:1599638 NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
Peri-Implantitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 susceptibility ISO DNA:SNP: :rs1935881(human) RGD PMID:25887438 RGD:14398485 NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
Periapical Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 IMP RGD PMID:20113782 RGD:8661683 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:23829599 RGD:9491793 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO RGD PMID:17509411 RGD:10449488 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO RGD PMID:21793936 RGD:7205516 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
periapical granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:11683586 RGD:6893426 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726 		JBrowse link
periapical periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:24631631 RGD:8661717 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 disease_progression ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:24631631 RGD:8661717 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ciita class II transactivator ISO RGD PMID:20478458 RGD:7242892 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:22341067 RGD:7257692 NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16631837 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:Periapical Tissue RGD PMID:19166776 RGD:4832829 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) treatment ISO Lactobacillus acidophilus RGD PMID:32436602 RGD:42721981 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
Periodontal Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:maxilla: RGD PMID:22716278 RGD:7421608 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Periodontal Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
periodontal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 ISO mRNA:increased expressin:gingiva RGD PMID:25887438 RGD:14398485 NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210 		JBrowse link
G Cd1d1 CD1d1 antigen ameliorates IMP RGD PMID:23586756 RGD:127345118 NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748 		JBrowse link
G Cd40lg CD40 ligand ISO mRNA:increased expression:lymph node, B cell, T cell RGD PMID:20618701 RGD:5024938 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd80 CD80 antigen ISO RGD PMID:10657664 RGD:6902937 NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697 		JBrowse link
G Ctsc cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10662807 NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
G Dspp dentin sialophosphoprotein IAGP MouseDO NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
G Il15 interleukin 15 ISO mRNA:decreased expression:B cell RGD PMID:20618701 RGD:5024938 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		JBrowse link
G Il16 interleukin 16 ISO mRNA:increased expression:T cell RGD PMID:20618701 RGD:5024938 NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:gingiva (rat) RGD PMID:21826658 RGD:9068940 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Il19 interleukin 19 ISO mRNA:increased expression:B cell RGD PMID:20618701 RGD:5024938 NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852 		JBrowse link
G Il21 interleukin 21 ISO mRNA:increased expression:lymph node, B cell RGD PMID:20618701 RGD:5024938 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G Il24 interleukin 24 ISO mRNA:increased expression:lymph node, T cell RGD PMID:20618701 RGD:5024938 NCBI chr 1:130,809,801...130,815,153
Ensembl chr 1:130,809,811...130,815,191 		JBrowse link
G Il6 interleukin 6 severity ISO associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) RGD PMID:17286759 PMID:19017034 RGD:1601585, RGD:2307284 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il7 interleukin 7 ISO RGD PMID:20618701 RGD:5024938 NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19003935 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Ren1 renin 1 structural treatment IMP Associated with Diabetes Mellitus, experimental RGD PMID:31333451 RGD:125097482 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063 		JBrowse link
periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenergic receptor, beta 1 ISO RGD PMID:18275933 PMID:21958237 RGD:5129135, RGD:7241545 NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:periodontium (rat) RGD PMID:22795565 PMID:22924807 RGD:6784499, RGD:7245487 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G App amyloid beta precursor protein ISO mRNA:increased expression:gingiva RGD PMID:28285126 RGD:13801025 NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:gingiva RGD PMID:17876613 RGD:2306992 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 IMP RGD PMID:20053385 RGD:5688142 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729 		JBrowse link
G Cd14 CD14 antigen ISO protein:increased expression:monocyte, neutrophil: RGD PMID:17565820 RGD:7191232 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851 		JBrowse link
G Cd274 CD274 antigen ISO protein:increased expression:periodontium RGD PMID:32346701 RGD:40886271 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22523383 RGD:11352302 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cldn1 claudin 1 ISO mRNA,protein:decreased expression:epithelium: RGD PMID:22092031 RGD:11344891 NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:20011938 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO RGD PMID:18454663 RGD:2306575 NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO protein:increased expression:gingival epithelium RGD PMID:20096665 RGD:5135002 NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:15491310 RGD:14700983 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Elane elastase, neutrophil expressed susceptibility ISO associated with Severe Congenital Neutropenia;DNA:mutations: : RGD PMID:21796505 RGD:10450515 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Fmod fibromodulin ISO
IEP		 protein:increased expression:gingiva RGD PMID:15196146 PMID:15196146 RGD:2315079, RGD:2315079 NCBI chr 1:133,964,992...133,976,018
Ensembl chr 1:133,964,992...133,976,015 		JBrowse link
G Fpr1 formyl peptide receptor 1 ISO ClinVar Annotator: match by term: Periodontitis ClinVar PMID:28492532 NCBI chr17:18,096,733...18,104,201
Ensembl chr17:18,096,733...18,104,202 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12747453 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO DNA:snp:exon:c.59C>G (human) RGD PMID:15490304 RGD:9685136 NCBI chr14:67,982,717...67,986,889
Ensembl chr14:67,982,630...67,986,888 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:15491310 RGD:14700983 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:gingiva RGD PMID:24692854 RGD:10402172 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO RGD PMID:20655098 RGD:6480271 NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977 		JBrowse link
G Il10 interleukin 10 treatment ISO
IEP		 associated with type 2 diabetes mellitus RGD PMID:23843954 PMID:30405072 PMID:27795360 RGD:7364998, RGD:14975259, RGD:14975132 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:gingiva RGD PMID:22795294 RGD:6906881 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta treatment ISO
IEP		 mRNA:increased expression:gingiva
associated with Severe Congenital Neutropenia;protein:increased expression:gingival crevicular fluid
mRNA:increased expression:gingiva, stroma (rat)		 RGD PMID:22795294 PMID:21796505 PMID:27795360 PMID:24586097 PMID:23167849 RGD:6906881, RGD:10450515, RGD:14975132, RGD:10450598, RGD:7175547 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO mRNA:increased expression:gingiva
associated with Kidney Failure, Chronic;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)		 RGD PMID:22795294 PMID:22795294 RGD:6906881, RGD:6906881 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il33 interleukin 33 severity IEP
IDA		 associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia RGD PMID:25808546 PMID:25808546 RGD:39938855, RGD:39938855 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Il6 interleukin 6 susceptibility
treatment		 ISO
IEP		 chronic periodontitis RGD PMID:17209781 PMID:27795360 RGD:1601588, RGD:14975132 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Jak1 Janus kinase 1 treatment IDA
IEP		 associated with Diabetes Mellitus, Experimental RGD PMID:26825585 PMID:23333931 RGD:18936995, RGD:18936997 NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:gingiva RGD PMID:23730973 RGD:9685198 NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772 		JBrowse link
G Met met proto-oncogene ISO mRNA, protein:increased expression:gingival pocket (rat) RGD PMID:16827730 RGD:2317520 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mir143 microRNA 143 severity ISO RGD PMID:31021403 RGD:155883167 NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329 		JBrowse link
G Mme membrane metallo endopeptidase ISO mRNA:increased expression:gingiva RGD PMID:28285126 RGD:13801025 NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO RGD PMID:19393988 RGD:10043174 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:increased expression, increased activity:gingiva, gingival crevicular fluid (human) RGD PMID:11876270 RGD:7207044 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO protein:increased expression, increased activity:gingiva, gingival crevicular fluid (human) RGD PMID:11876270 RGD:7207044 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression: periodontal ligament RGD PMID:16845949 RGD:2325939 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:serum RGD PMID:19961752 RGD:2325862 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808498 PMID:24640096 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO associated with type 2 diabetes mellitus;mRNA:increased expression:adipose tissue: RGD PMID:26456152 RGD:13781894 NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO protein:increased expression:neuron RGD PMID:20200421 RGD:5684768 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 IMP RGD PMID:14630900 RGD:10413909 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Pdcd1 programmed cell death 1 ISO protein:increased expression:periodontium RGD PMID:32346701 RGD:40886271 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 IEP protein:increased expression:gingiva, blood vessels (mouse) RGD PMID:21979132 RGD:6771178 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Postn periostin, osteoblast specific factor ISO protein:decreased expression:mandible: RGD PMID:24212842 RGD:10041024 NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO possible therapeutic target RGD PMID:21253492 RGD:5509938 NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 treatment IDA associated with Gram-Negative Bacterial Infections RGD PMID:31758083 RGD:127229920 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 treatment IDA RGD PMID:26825585 RGD:18936995 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IDA RGD PMID:26825585 RGD:18936995 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tlr4 toll-like receptor 4 ISO ClinVar Annotator: match by term: Pericementitis ClinVar PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 More... NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24586097 RGD:10450598 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO mRNA,protein:increased expression:periodontium RGD PMID:29972971 RGD:127284858 NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with obesity;protein:increased expression:aorta: RGD PMID:20065945 RGD:7240508 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Vip vasoactive intestinal polypeptide ISO RGD PMID:19792856 RGD:5685624 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr18:65,017,551...65,350,888
Ensembl chr18:65,020,776...65,350,899 		JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta-3-glucosyltransferase ISO
IAGP		 ClinVar Annotator: match by term: Peters plus syndrome
OMIM:261540
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr 5:149,601,565...149,686,064
Ensembl chr 5:149,601,695...149,686,064 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29584859 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
Pharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 3:137,903,828...137,937,803
Ensembl chr 3:137,923,521...137,939,143 		JBrowse link
pharynx squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clptm1l CLPTM1-like sexual_dimorphism ISO in males;DNA:SNP: :rs401681(human) RGD PMID:31429604 RGD:150530637 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724 		JBrowse link
PLACK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		 OMIM
CTD
ClinVar		 PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar PMID:3527073 PMID:25683118 NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320 		JBrowse link
pleomorphic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 pleiomorphic adenoma gene 1 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
RGD		 PMID:10029085 RGD:1599086 NCBI chr 4:3,895,209...3,938,429
Ensembl chr 4:3,900,996...3,938,423 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO
IAGP		 ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome
CTD Direct Evidence: marker/mechanism
OMIM:119500 | OMIM:263650		 OMIM
ClinVar
CTD
MouseDO		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
IAGP		 ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650		 ClinVar
MouseDO		 NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987 		JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase ISO ClinVar Annotator: match by term: Miller syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305 		JBrowse link
primary failure of tooth eruption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO DNA:deletions, missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Primary failure of tooth eruption
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, splice-site mutations:p.E155X (c.463G>T), c.543+1G>A, c.1050-3C>G (human)		 ClinVar
CTD
OMIM
RGD		 PMID:7701349 PMID:8076140 PMID:8703170 PMID:9536098 PMID:9745456 More... RGD:12910706, RGD:12910708 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213 		JBrowse link
Prognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen, type II, alpha 1 susceptibility ISO DNA:SNP: : rs1793953(human) RGD PMID:24386886 RGD:11667107 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
pulpitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO RGD PMID:12017181 RGD:10755771 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il1r1 interleukin 1 receptor, type I ISO protein:increased expression:dental pulp,trigeminal ganglion: RGD PMID:19732182 RGD:8662895 NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:ganglion: RGD PMID:24267924 RGD:7777125 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
Radicular Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832 		JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More... NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
Retrognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C member 8 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 PMID:26938784 NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23444262 NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279 		JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome		 OMIM
CTD
ClinVar		 PMID:24360810 NCBI chr11:119,179,189...119,190,869
Ensembl chr11:119,179,189...119,190,915 		JBrowse link
root caries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin susceptibility ISO RGD PMID:17959907 RGD:11035291 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
root resorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnf tumor necrosis factor ISO RGD PMID:22372265 RGD:13825431 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO RGD PMID:22372265 RGD:13825431 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
salivary gland adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir155 microRNA 155 disease_progression ISO RGD PMID:28668836 RGD:24922215 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mtus1 mitochondrial tumor suppressor 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chr 8:41,443,949...41,587,318
Ensembl chr 8:41,443,951...41,586,763 		JBrowse link
G Xrcc4 X-ray repair complementing defective repair in Chinese hamster cells 4 susceptibility ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727 		JBrowse link
salivary gland cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon4l gon-4 like IAGP MouseDO NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410 		JBrowse link
salivary gland carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain protein receptor disease_progression ISO RGD PMID:26498950 RGD:126907998 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:26498950 RGD:126907998 NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein sexual_dimorphism ISO DNA:SNP:intron: (rs3748522) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 6:119,878,781...119,899,789
Ensembl chr 6:119,879,659...119,899,789 		JBrowse link
G Xrcc4 X-ray repair complementing defective repair in Chinese hamster cells 4 sexual_dimorphism ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727 		JBrowse link
salivary gland disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp3 caspase 3 IDA associated with Diabetes Mellitus, Insulin-Dependent;protein:increased activity:submandibular gland, acinar cell RGD PMID:19356238 RGD:2311442 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
Salivary Gland Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:salivary gland RGD PMID:17708571 RGD:2292654 NCBI chr14:20,505,344...20,530,009
Ensembl chr14:20,505,328...20,530,201 		JBrowse link
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540 		JBrowse link
G Aspm abnormal spindle microtubule assembly ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A onset IMP RGD PMID:11103935 RGD:8662404 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B disease_progression ISO protein:increased expression:salivary gland: RGD PMID:21109952 RGD:9587467 NCBI chr16:93,680,801...93,703,003
Ensembl chr16:93,680,789...93,703,003 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005 		JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:191,269,468...191,307,656
Ensembl chr 1:191,269,468...191,307,656 		JBrowse link
G Efhd1 EF hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:87,192,075...87,238,563
Ensembl chr 1:87,192,085...87,238,561 		JBrowse link
G En1 engrailed 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721 		JBrowse link
G Espl1 extra spindle pole bodies 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:102,204,688...102,232,792
Ensembl chr15:102,204,701...102,232,792 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fgf8 fibroblast growth factor 8 IMP associated with Mammary Neoplasms, Experimental RGD PMID:9840935 RGD:2301098 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Gas2 growth arrest specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:51,511,560...51,644,753
Ensembl chr 7:51,511,763...51,644,723 		JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490 		JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:121,308,005...121,315,814
Ensembl chr 8:121,305,372...121,316,043 		JBrowse link
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096 		JBrowse link
G Homer3 homer scaffolding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Salivary gland neoplasm ClinVar PMID:17384584 PMID:19255327 PMID:19773371 PMID:23406027 PMID:24006476 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633 		JBrowse link
G Irx4 Iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727 		JBrowse link
G Isyna1 myo-inositol 1-phosphate synthase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:71,047,131...71,049,940
Ensembl chr 8:71,047,023...71,049,940 		JBrowse link
G Itgb4 integrin beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238 		JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:100,022,585...100,026,775
Ensembl chr11:100,022,584...100,026,754 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Salivary gland neoplasm ClinVar PMID:17384584 PMID:19255327 PMID:19773371 PMID:23406027 PMID:24006476 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:37,009,239...37,014,922
Ensembl chr10:37,009,371...37,014,916 		JBrowse link
G Mark2 MAP/microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225 		JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:79,376,079...79,395,229
Ensembl chr10:79,376,079...79,391,033 		JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210 		JBrowse link
G Neto2 neuropilin (NRP) and tolloid (TLL)-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:86,363,347...86,428,011
Ensembl chr 8:86,363,217...86,427,553 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:7,786,061...7,790,649
Ensembl chr  X:7,786,061...7,790,649 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:96,736,772...96,778,242
Ensembl chr 3:96,736,600...96,778,242 		JBrowse link
G Prkd1 protein kinase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240283 NCBI chr12:50,388,009...50,696,075
Ensembl chr12:50,388,014...50,695,881 		JBrowse link
G Pygb brain glycogen phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:150,628,716...150,673,668
Ensembl chr 2:150,628,655...150,673,678 		JBrowse link
G Rbfox2 RNA binding protein, fox-1 homolog (C. elegans) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Slc24a3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:145,009,695...145,484,086
Ensembl chr 2:145,009,674...145,484,086 		JBrowse link
G Son Son DNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:91,444,712...91,476,080
Ensembl chr16:91,444,394...91,476,109 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
G Sox4 SRY (sex determining region Y)-box 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:34,957,872...35,028,160
Ensembl chr 9:34,957,872...35,030,564 		JBrowse link
G Top2a topoisomerase (DNA) II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:89,803,429...89,891,146
Ensembl chr13:89,803,431...89,890,628 		JBrowse link
G Wnt5b wingless-type MMTV integration site family, member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:119,409,493...119,521,847
Ensembl chr 6:119,409,492...119,521,308 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 severity ISO protein:decreased expression:saliva-secreting gland (human) RGD PMID:33202356 RGD:150530645 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
Schwartz-Jampel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 perlecan (heparan sulfate proteoglycan 2) IAGP
ISO		 OMIM:255800
ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1		 MouseDO
ClinVar
OMIM		 PMID:11038441 PMID:11101850 PMID:11279527 PMID:11941538 PMID:16199547 More... NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 ClinVar PMID:11038441 PMID:11941538 PMID:25504735 PMID:25741868 PMID:26467025 More... NCBI chr 4:137,298,185...137,309,429
Ensembl chr 4:137,298,187...137,309,415 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin ClinVar PMID:25741868 NCBI chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774 		JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
Selective Tooth Agenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 1 ClinVar PMID:19555857 PMID:20002458 PMID:21737554 PMID:25741868 PMID:26387786 More... NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 1 OMIM
ClinVar		 PMID:8696335 PMID:9742121 PMID:10742093 PMID:12097313 PMID:12807959 More... NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
Selective Tooth Agenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 10 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855 		JBrowse link
Selective Tooth Agenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 PMID:30526585 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:25741868 NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 2 ClinVar PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:25629078 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
Selective Tooth Agenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 More... NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607 		JBrowse link
G Slc25a21 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3 ClinVar PMID:11941488 NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257 		JBrowse link
Selective Tooth Agenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: LATERAL INCISORS, ABSENCE OF | ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
Selective Tooth Agenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17332414 PMID:22813217 PMID:23033978 PMID:25741868 PMID:26387593 More... NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928 		JBrowse link
Selective Tooth Agenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10b wingless-type MMTV integration site family, member 10B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, 8		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27321946 PMID:28492532 NCBI chr15:98,668,593...98,676,093
Ensembl chr15:98,668,593...98,676,031 		JBrowse link
Selective Tooth Agenesis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grem2 gremlin 2, DAN family BMP antagonist ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, 9		 OMIM
CTD
ClinVar		 PMID:23401279 PMID:25741868 PMID:26416033 NCBI chr 1:174,661,352...174,749,386
Ensembl chr 1:174,661,351...174,749,385 		JBrowse link
Selective Tooth Agenesis, X-Linked, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9683615 PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 More... NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10 (sodium/bile acid cotransporter family), member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:29878199 PMID:30082715 NCBI chr 8:79,235,957...79,460,641
Ensembl chr 8:79,235,975...79,460,632 		JBrowse link
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3gl polymerase (RNA) III (DNA directed) polypeptide G like ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar		 PMID:25741868 PMID:31089205 PMID:31695177 NCBI chr 3:96,485,188...96,501,497
Ensembl chr 3:96,485,188...96,501,497 		JBrowse link
sialadenitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 IDA RGD PMID:17284325 RGD:8661704 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cd4 CD4 antigen treatment ISO RGD PMID:1828009 RGD:10059317 NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184 		JBrowse link
G Il27 interleukin 27 exacerbates IEP mRNA:increased expression:saliva-secreting gland (mouse) RGD PMID:32307922 RGD:126790516 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
Sialorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tac1 tachykinin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8938667 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Drooling ClinVar PMID:25741868 NCBI chr18:69,476,500...69,821,038
Ensembl chr18:69,476,427...69,822,150 		JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More... NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828 		JBrowse link
Sjogren's syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator IAGP OMIM:270150 MouseDO NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444 		JBrowse link
G Apoe apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Bdnf brain derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: RGD PMID:30249485 RGD:14398821 NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100 		JBrowse link
G C3 complement component 3 IMP RGD PMID:17675493 RGD:7401265 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:12412204 PMID:23773920 RGD:8551796, RGD:8551818 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 IAGP OMIM:270150 MouseDO NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO associated with Arthritis, Rheumatoid;protein:increased expression:serum: RGD PMID:2353152 PMID:16013223 RGD:9491774, RGD:9491835 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human)
mRNA:increased expression:salivary gland:		 RGD PMID:16869018 PMID:12528117 RGD:7421506, RGD:7421519 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 IAGP OMIM:270150 MouseDO NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) RGD PMID:12590982 RGD:5147747 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538 		JBrowse link
G E2f1 E2F transcription factor 1 IAGP OMIM:270150 MouseDO NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812 		JBrowse link
G Fas Fas cell surface death receptor ISO
IAGP
IMP
IEP		 protein:increased expression:serum (human)
OMIM:270150
protein:decreased expression:lacrimal gland, lymphocyte (mouse)		 MouseDO
RGD		 PMID:9890678 PMID:9870874 PMID:11157873 RGD:8662410, RGD:8662451, RGD:8662436 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chr 5:134,266,686...134,346,571
Ensembl chr 5:134,266,688...134,343,614 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphism:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2;		 RGD PMID:11555411 PMID:21315052 RGD:5147809, RGD:7421543 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)		 RGD PMID:21315052 PMID:17489060 PMID:8468491 RGD:7421543, RGD:36174022, RGD:7483566 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0301 (human) RGD PMID:11555411 RGD:5147809 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:24941846 RGD:10450595 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chr11:50,266,084...50,277,355
Ensembl chr11:50,267,817...50,277,355 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO
IMP
IEP		 protein:increased expression:salivary gland
protein:increased expression:plasma		 RGD PMID:11359451 PMID:21589878 PMID:15037117 RGD:8158122, RGD:8547705, RGD:8547696 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Id3 inhibitor of DNA binding 3 IAGP OMIM:270150 MouseDO NCBI chr 4:135,871,133...135,872,703
Ensembl chr 4:135,870,808...135,873,066 		JBrowse link
G Ifng interferon gamma IMP
ISO		 RGD PMID:15584966 PMID:28421993 RGD:8142390, RGD:14975117 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il12a interleukin 12a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
G Il17a interleukin 17A IMP RGD PMID:21182786 RGD:8696035 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
protein:increased expression:conjunctiva (human)		 RGD PMID:9646842 PMID:11527941 RGD:8549786, RGD:8549807 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il2 interleukin 2 IAGP OMIM:270150 MouseDO NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839 		JBrowse link
G Il2ra interleukin 2 receptor, alpha chain IAGP OMIM:270150 MouseDO NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004 		JBrowse link
G Il4 interleukin 4 IAGP OMIM:270150 MouseDO NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:plasma:
DNA:polymorphims:promoter:-174G>C(human)		 RGD PMID:11426023 PMID:11426023 RGD:7829718, RGD:7829718 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 9:82,711,859...82,729,741
Ensembl chr 9:82,711,593...82,729,740 		JBrowse link
G Itsn2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr12:4,642,792...4,763,952
Ensembl chr12:4,642,638...4,763,962 		JBrowse link
G Lta lymphotoxin A no_association
susceptibility		 IMP
ISO		 DNA:SNPs: :multiple (human)
DNA:SNP, haplotype:intron: (rs909253) (human)
protein:increased expression:saliva, serum		 RGD PMID:20952683 PMID:22294627 PMID:22294627 PMID:20952683 RGD:8548776, RGD:8548787, RGD:8548787, RGD:8548776 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 IAGP OMIM:270150 MouseDO NCBI chr11:103,110,590...103,158,227
Ensembl chr11:103,110,588...103,158,298 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:19332626 RGD:8693671 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:15316122 PMID:9923658 RGD:8547814, RGD:8547858 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Muc16 mucin 16 ISO mRNA, protein:increased expression:conjunctival epithelial cell, tear RGD PMID:19122828 RGD:7364772 NCBI chr 9:18,406,741...18,586,117
Ensembl chr 9:18,406,751...18,585,826 		JBrowse link
G Muc19 mucin 19 ISO
IAGP		 mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150		 MouseDO
RGD		 PMID:18184611 RGD:7364736 NCBI chr15:91,722,531...91,832,440
Ensembl chr15:91,722,531...91,832,447 		JBrowse link
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479 		JBrowse link
G Nefl neurofilament, light polypeptide ISO protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha IAGP
IMP		 OMIM:270150 MouseDO
RGD		 PMID:20696914 RGD:126908016 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 9:82,748,212...82,857,776
Ensembl chr 9:82,748,212...82,857,569 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Prdm1 PR domain containing 1, with ZNF domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16163373 PMID:15933742 RGD:11534998, RGD:11534999 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Pttg1 pituitary tumor-transforming gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr11:43,311,097...43,317,417
Ensembl chr11:43,311,077...43,317,078 		JBrowse link
G Reg1 regenerating islet-derived 1 ISO protein:increased expression:minor salivary gland, salivary ductal epithelium (human) RGD PMID:19016805 RGD:9850137 NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650 		JBrowse link
G Satb1 special AT-rich sequence binding protein 1 IAGP OMIM:270150 MouseDO NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318 		JBrowse link
G Selp selectin, platelet ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595 		JBrowse link
G St14 suppression of tumorigenicity 14 (colon carcinoma) IAGP OMIM:270150 MouseDO NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO DNA:SNP:intron: (rs7582694) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs7574865) (human)		 CTD
RGD		 PMID:24097066 PMID:24097067 PMID:20535138 PMID:20360187 PMID:18273036 RGD:8661690, RGD:8661709, RGD:8661708 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity IMP
IAGP
IEP		 OMIM:270150 MouseDO
RGD		 PMID:9358754 PMID:7554451 RGD:7394829, RGD:7394845 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Thbs1 thrombospondin 1 IAGP OMIM:270150 MouseDO NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614 		JBrowse link
G Tnf tumor necrosis factor treatment ISO DNA:polymorphism: :-1031T>C(human) RGD PMID:22703762 PMID:24941846 RGD:7394766, RGD:10450595 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405 		JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr11:54,801,613...54,853,766
Ensembl chr11:54,801,611...54,853,743 		JBrowse link
G Traf3ip2 TRAF3 interacting protein 2 IAGP OMIM:270150 MouseDO NCBI chr10:39,488,930...39,531,303
Ensembl chr10:39,488,930...39,531,303 		JBrowse link
G Vim vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637 		JBrowse link
G Vip vasoactive intestinal polypeptide IDA RGD PMID:22059987 RGD:5685375 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617 		JBrowse link
Sjögren-Mikulicz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion: : RGD PMID:10616008 RGD:5491001 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
Sleep Bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A susceptibility ISO DNA:SNP: :102T>C (rs6313) RGD PMID:22545912 RGD:401900300 NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934 		JBrowse link
solitary median maxillary central incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog ISO ClinVar Annotator: match by term: SMMCI SYNDROME | ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9302262 PMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 More... NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Six3 sine oculis-related homeobox 3 ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome ClinVar PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 More... NCBI chr17:85,921,036...85,933,619
Ensembl chr17:85,921,036...85,936,730 		JBrowse link
split hand-foot malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw4 F-box and WD-40 domain protein 4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:45,566,693...45,648,954
Ensembl chr19:45,566,693...45,648,751 		JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Apcs amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:172,721,528...172,722,516
Ensembl chr 1:172,721,528...172,722,608 		JBrowse link
G C1qa complement component 1, q subcomponent, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114 		JBrowse link
G C1qc complement component 1, q subcomponent, C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:136,617,115...136,620,225
Ensembl chr 4:136,617,115...136,620,376 		JBrowse link
G Cav1 caveolin 1, caveolae protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:6,544,505...7,401,345
Ensembl chr 2:6,544,505...7,514,374 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:10,094,825...10,108,384
Ensembl chr 1:10,094,826...10,108,393 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:47,430,516...47,503,078
Ensembl chr 6:47,430,332...47,503,073 		JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:13,155,623...13,197,940
Ensembl chr 8:13,155,621...13,197,940 		JBrowse link
G Derl1 Der1-like domain family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:57,732,898...57,755,814
Ensembl chr15:57,732,898...57,755,844 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:20,274,677...20,792,523
Ensembl chr13:20,274,766...20,792,523 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:148,230,173...148,236,592
Ensembl chr 4:148,230,173...148,236,597 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) 		CTD
RGD		 PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19694795 More... RGD:7365090 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16538176 PMID:21428769 PMID:23588310 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 susceptibility ISO DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) 		RGD PMID:19018717 PMID:23692434 RGD:7364874, RGD:7365090 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772 		JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr17:56,426,678...56,428,946
Ensembl chr17:56,426,678...56,429,001 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mir18 microRNA 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr14:115,281,283...115,281,378
Ensembl chr14:115,281,283...115,281,378 		JBrowse link
G Nedd4 neural precursor cell expressed, developmentally down-regulated 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:72,569,613...72,657,133
Ensembl chr 9:72,569,628...72,657,134 		JBrowse link
G Nfkbiz nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta IAGP MouseDO NCBI chr16:55,631,740...55,659,018
Ensembl chr16:55,631,738...55,659,262 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:45,142,300...45,159,813
Ensembl chr 7:45,139,882...45,159,830 		JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:63,262,793...63,266,400
Ensembl chr 4:63,262,797...63,266,400 		JBrowse link
G Orm2 orosomucoid 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:63,280,543...63,284,114
Ensembl chr 4:63,280,686...63,284,115 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Pml promyelocytic leukemia ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069 		JBrowse link
G Pros1 protein S (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709 		JBrowse link
G Psmc5 protease (prosome, macropain) 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:106,147,011...106,153,938
Ensembl chr11:106,146,980...106,153,946 		JBrowse link
G Ptger3 prostaglandin E receptor 3 (subtype EP3) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525 		JBrowse link
G Ptgis prostaglandin I2 (prostacyclin) synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:81,350,517...81,360,570
Ensembl chr15:81,350,497...81,360,570 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Vcp valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
G Vwf Von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO RGD PMID:10569634 RGD:5130878 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12085204 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Cyb5a cytochrome b5 type A (microsomal) ISO RGD PMID:10406239 RGD:11352692 NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996 		JBrowse link
G Nbn nibrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
Stomatognathic System Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 runt related transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357738 NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684 		JBrowse link
submandibular gland disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fn1 fibronectin 1 ISO RGD PMID:19097859 RGD:7205460 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359 		JBrowse link
Supernumerary Tooth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain containing 2 ISO ClinVar Annotator: match by term: Teeth, supernumerary ClinVar PMID:25741868 PMID:30905398 NCBI chr17:27,408,574...27,426,228
Ensembl chr17:27,408,574...27,423,443 		JBrowse link
suppurative periapical periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO protein:increased expression:neutrophil: RGD PMID:19913217 RGD:10450566 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm10 RNA binding motif protein 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TARP syndrome		 OMIM
CTD
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:20,483,596...20,517,128
Ensembl chr  X:20,483,742...20,517,140 		JBrowse link
Taurodontism, Microdontia, and Dens Invaginatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif4 kinesin family member 4 ISO ClinVar Annotator: match by term: KIF4A-related condition | ClinVar Annotator: match by term: Taurodontism, microdontia, and dens invaginatus OMIM
ClinVar		 PMID:271276 PMID:25741868 PMID:28492532 PMID:31616463 NCBI chr  X:99,669,693...99,770,878
Ensembl chr  X:99,669,343...99,770,820 		JBrowse link
Temporomandibular Joint Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 severity IEP
ISO		 mRNA:increased expression:temporomandibular joint RGD PMID:24316289 PMID:18830934 RGD:10043104, RGD:10043108 NCBI chr16:85,655,045...85,698,013
Ensembl chr16:85,653,061...85,698,716 		JBrowse link
G Becn1 beclin 1, autophagy related ISO mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Temporomandibular joint disorder ClinVar PMID:25741868 NCBI chr 7:134,272,416...134,775,376
Ensembl chr 7:134,272,383...134,775,368 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr19:60,877,995...61,084,406
Ensembl chr19:60,878,187...61,084,406 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993 		JBrowse link
G Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 ISO protein:decreased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr17:80,887,942...81,039,118
Ensembl chr17:80,887,941...81,035,914 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23386193 RGD:10041017 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Temporomandibular Joint Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV ISO RGD PMID:20589683 RGD:5508377 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
Temporomandibular Joint Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340 		JBrowse link
G Becn1 beclin 1, autophagy related ISO RGD PMID:31007149 RGD:34888237 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G Casp12 caspase 12 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 disease_progression ISO RGD PMID:28147322 RGD:155791443 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 6:70,821,468...70,882,225
Ensembl chr 6:70,821,499...70,882,229 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signalling 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Hspa5 heat shock protein 5 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO RGD PMID:31007149 RGD:34888237 NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499 		JBrowse link
G Rps6 ribosomal protein S6 ISO RGD PMID:31007149 RGD:34888237 NCBI chr 4:86,772,336...86,775,604
Ensembl chr 4:86,772,897...86,775,649 		JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chsy1 chondroitin sulfate synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome		 OMIM
CTD
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546 		JBrowse link
tongue cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx3x DEAD box helicase 3, X-linked ameliorates IEP RGD PMID:25918862 RGD:151356506 NCBI chr  X:13,147,261...13,160,222
Ensembl chr  X:13,147,209...13,160,291 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO associated with human papillomavirus;protein:decreased expression:tumor cells RGD PMID:30061236 RGD:36947883 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:tongue RGD PMID:30617160 RGD:21081517 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mir491 microRNA 491 disease_progression ISO mRNA:decreased expression:tongue (human) RGD PMID:25749387 RGD:152995520 NCBI chr 4:88,040,277...88,040,362
Ensembl chr 4:88,040,277...88,040,362 		JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 disease_progression ISO protein:increased expression:tongue (human) RGD PMID:25749387 RGD:152995520 NCBI chr15:6,737,827...6,829,882
Ensembl chr15:6,737,860...6,829,882 		JBrowse link
tongue carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human) RGD PMID:20204288 RGD:27372889 NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072 		JBrowse link
Tongue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor treatment ISO RGD PMID:17374970 RGD:1625338 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Aqp3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:11488071 RGD:8662423 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A severity ISO DNA:point mutations, missense mutation:exon
protein:decreased expression:tongue
DNA:loss of heterozygosity		 RGD PMID:17091472 PMID:18804414 PMID:16527513 RGD:1600814, RGD:11252155, RGD:1578522 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO DNA:loss of heterozygosity RGD PMID:16527513 RGD:1578522 NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276 		JBrowse link
G Cryab crystallin, alpha B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19840781 NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		JBrowse link
G Fos FBJ osteosarcoma oncogene ISO protein:increased expression:tongue epithelium RGD PMID:14674993 RGD:2293780 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20043093 PMID:20043093 RGD:12738401 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Hspb1 heat shock protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19840781 NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:blood: RGD PMID:8493451 RGD:8548876 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Junb jun B proto-oncogene ISO protein:increased expression:tongue epithelium RGD PMID:14674993 RGD:2293780 NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374 		JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19487542 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210 		JBrowse link
G Mt1 metallothionein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 ISO protein:decreased expression:saliva RGD PMID:19789535 RGD:8657148 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 PMID:22561872 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO mRNA,protein:increased expression:tongue:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20618948 PMID:20618948 RGD:8547519 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:17169602 PMID:22302289 RGD:8694287, RGD:8694311 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Terc telomerase RNA component ISO CTD Direct Evidence: therapeutic CTD PMID:16051514 NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149 		JBrowse link
G Tlr5 toll-like receptor 5 ISO protein:increased expression:tongue: RGD PMID:23287987 RGD:7814374 NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010 		JBrowse link
G Tnf tumor necrosis factor IEP
ISO		 mRNA,protein:increased expression:tongue:
protein:increased expression:saliva		 RGD PMID:14747060 PMID:21397550 RGD:7401243, RGD:7401244 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Trp53 transformation related protein 53 ISO
EXP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:tongue:
DNA:mutations:cds:		 CTD
RGD		 PMID:16543248 PMID:21903770 PMID:9485768 PMID:12167434 RGD:8547850, RGD:8547872, RGD:8547871 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tyms thymidylate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16280240 NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:15289890 RGD:7488946 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vegfc vascular endothelial growth factor C disease_progression ISO RGD PMID:15289890 RGD:7488946 NCBI chr 8:54,530,567...54,639,489
Ensembl chr 8:54,530,641...54,640,131 		JBrowse link
tongue squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased activity:saliva: RGD PMID:20379753 RGD:152995262 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO protein:decreased expression:serum RGD PMID:23181352 RGD:8694469 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO protein:increased expression:tongue (human) RGD PMID:18621506 RGD:153323319 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 ISO mRNA:decreased expression:tongue: RGD PMID:19787213 RGD:14398487 NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210 		JBrowse link
G Cav2 caveolin 2 ISO protein:increased expression:mucosa of tongue RGD PMID:20558341 RGD:8661771 NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114 		JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:12162767 RGD:8662376 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Egfr epidermal growth factor receptor treatment IMP RGD PMID:19380367 RGD:8551769 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:19691460 RGD:126781771 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 severity ISO RGD PMID:19691460 RGD:126781771 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO RGD PMID:17409780 RGD:11049143 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancc Fanconi anemia, complementation group C ISO RGD PMID:17409780 RGD:11049143 NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Fancf Fanconi anemia, complementation group F ISO mRNA:decreased expression:tongue: RGD PMID:17409780 RGD:11049143 NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO RGD PMID:17409780 RGD:11049143 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO RGD PMID:17409780 RGD:11049143 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO RGD PMID:17409780 RGD:11049143 NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO RGD PMID:17409780 RGD:11049143 NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Fos FBJ osteosarcoma oncogene ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Fosb FBJ osteosarcoma oncogene B ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 7:19,036,621...19,043,970
Ensembl chr 7:19,036,621...19,043,976 		JBrowse link
G Fosl1 fos-like antigen 1 ISO protein:decreased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974 		JBrowse link
G Fosl2 fos-like antigen 2 ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 5:32,292,599...32,315,184
Ensembl chr 5:32,293,145...32,315,186 		JBrowse link
G Fubp1 far upstream element (FUSE) binding protein 1 exacerbates ISO mRNA, protein:increased expression:tongue (human) RGD PMID:32339054 RGD:151361191 NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:decreased expression:epithelium RGD PMID:23568744 RGD:8662380 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:tongue: RGD PMID:20848408 RGD:8548612 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Ifng interferon gamma disease_progression ISO protein:decreased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 disease_progression ISO RGD PMID:25193287 RGD:39938972 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il33 interleukin 33 disease_progression ISO RGD PMID:25193287 RGD:39938972 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Jak3 Janus kinase 3 disease_progression ISO RGD PMID:26860129 RGD:11531126 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Jun jun proto-oncogene ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Junb jun B proto-oncogene ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		JBrowse link
G Jund jun D proto-oncogene ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265 		JBrowse link
G Kdr kinase insert domain protein receptor treatment IMP RGD PMID:19380367 RGD:8551769 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO mRNA:increased expression:tongue squamous epithelium (human) RGD PMID:28319306 RGD:150429750 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Met met proto-oncogene ISO protein:increased expression:tongue: RGD PMID:20848408 RGD:8548612 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mtus1 mitochondrial tumor suppressor 1 disease_progression ISO RGD PMID:22153618 RGD:25330347 NCBI chr 8:41,443,949...41,587,318
Ensembl chr 8:41,443,951...41,586,763 		JBrowse link
G Slc1a5 solute carrier family 1 (neutral amino acid transporter), member 5 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr 7:16,515,259...16,532,199
Ensembl chr 7:16,515,265...16,532,199 		JBrowse link
G Slc3a2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733 		JBrowse link
G Slc7a11 solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 severity ISO RGD PMID:24762957 RGD:151361157 NCBI chr 3:50,319,385...50,403,947
Ensembl chr 3:49,846,975...50,398,063 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 disease_progression ISO RGD PMID:21689966 RGD:8661665 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:tongue: RGD PMID:20385474 RGD:8547851 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
tonsil cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl15 C-X-C motif chemokine ligand 15 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
tonsil squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 severity ISO associated with human papillomavirus;protein:decreased expression:tumor cells (human) RGD PMID:30061236 RGD:36947883 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
tonsillitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:27738609 RGD:12743605 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
Tooth Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:18027777 NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Lrp4 low density lipoprotein receptor-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 2:91,287,794...91,344,246
Ensembl chr 2:91,287,856...91,344,124 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133 PMID:9363853 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Runx2 runt related transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684 		JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 PMID:22228435 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		JBrowse link
G Tbx3 T-box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207801 NCBI chr 5:119,808,600...119,822,789
Ensembl chr 5:119,808,734...119,822,789 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547 		JBrowse link
tooth agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aak1 AP2 associated kinase 1 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 6:86,826,252...86,980,209
Ensembl chr 6:86,826,499...86,980,205 		JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:15042511 PMID:21416598 PMID:21626677 PMID:25637381 PMID:25741868 More... NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) RGD PMID:23079991 RGD:13446405 NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human)
ClinVar Annotator: match by term: Tooth agenesis
DNA:SNP:cds:c.455T>C(p.V152A)(human)		 ClinVar
RGD		 PMID:26166641 PMID:23079991 RGD:13442494, RGD:13446405 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypodontia ClinVar PMID:19623212 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319 		JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:22813217 PMID:23033978 PMID:25741868 PMID:26963285 PMID:28492532 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928 		JBrowse link
G Msx1 msh homeobox 1 IAGP
ISO		 OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Oligodontia		 MouseDO
ClinVar		 PMID:24914010 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Pax9 paired box 9 IAGP
ISO		 OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis		 MouseDO
ClinVar		 PMID:12605438 PMID:14607846 PMID:16236760 PMID:16479262 PMID:19429910 More... NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:25741868 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178 		JBrowse link
G Rfx2 regulatory factor X, 2 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr17:57,082,897...57,138,102
Ensembl chr17:57,082,897...57,138,013 		JBrowse link
G Seh1l SEH1-like (S. cerevisiae ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr18:67,907,946...67,928,557
Ensembl chr18:67,907,946...67,928,557 		JBrowse link
G Slc25a21 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257 		JBrowse link
G Vps54 VPS54 GARP complex subunit ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr11:21,189,032...21,271,133
Ensembl chr11:21,189,281...21,271,136 		JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crmp1 collapsin response mediator protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 5:37,399,402...37,449,507
Ensembl chr 5:37,399,284...37,449,477 		JBrowse link
G Cytl1 cytokine-like 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 5:37,892,863...37,897,164
Ensembl chr 5:37,892,863...37,897,164 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 5:37,446,314...37,495,489
Ensembl chr 5:37,446,442...37,494,238 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		JBrowse link
G Gm1043 predicted gene 1043 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 5:37,310,473...37,394,287
Ensembl chr 5:37,242,714...37,386,891 		JBrowse link
G Jakmip1 janus kinase and microtubule interacting protein 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 5:37,182,424...37,307,958
Ensembl chr 5:37,185,679...37,307,951
Ensembl chr 5:37,185,679...37,307,951 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar Annotator: match by term: Tooth-and-Nail Syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 More... NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 5:37,604,169...37,874,503
Ensembl chr 5:37,604,169...37,874,515 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ClinVar PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532 NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
Tooth Demineralization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO associated with Rickets, Hypophosphatemic;DNA:snps, missense mutation, nonsense mutation:multiple (human) RGD PMID:23325605 RGD:11558022 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832 		JBrowse link
tooth disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
Toothache term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npy1r neuropeptide Y receptor Y1 ISO CTD Direct Evidence: therapeutic CTD PMID:18809749 NCBI chr 8:67,149,595...67,159,452
Ensembl chr 8:67,149,844...67,159,444 		JBrowse link
trichodontoosseous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc3 ATP-binding cassette, sub-family C member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,234,121...94,283,843
Ensembl chr11:94,234,121...94,283,823 		JBrowse link
G Abi3 ABI family member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,720,898...95,733,302
Ensembl chr11:95,720,900...95,733,302 		JBrowse link
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,447,928...94,492,822
Ensembl chr11:94,447,928...94,492,697 		JBrowse link
G Ankrd40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,218,827...94,232,673
Ensembl chr11:94,218,827...94,232,667 		JBrowse link
G Atp5mc1 ATP synthase membrane subunit c locus 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,963,619...95,966,520
Ensembl chr11:95,959,678...95,966,496 		JBrowse link
G B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,754,385...95,805,786
Ensembl chr11:95,756,769...95,805,717 		JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024 		JBrowse link
G Calcoco2 calcium binding and coiled-coil domain 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,990,195...96,015,362
Ensembl chr11:95,990,152...96,002,790 		JBrowse link
G Chad chondroadherin ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,455,873...94,459,953
Ensembl chr11:94,455,873...94,459,953 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G Dlx4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,031,273...95,037,116
Ensembl chr11:95,031,273...95,037,089 		JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,535,798...94,544,611
Ensembl chr11:94,535,822...94,544,790 		JBrowse link
G Epn3 epsin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,380,425...94,390,800
Ensembl chr11:94,380,425...94,390,800 		JBrowse link
G Fam117a family with sequence similarity 117, member A ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,227,844...95,272,698
Ensembl chr11:95,227,844...95,272,698 		JBrowse link
G Gip gastric inhibitory polypeptide ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,915,358...95,921,657
Ensembl chr11:95,915,371...95,921,657 		JBrowse link
G Gngt2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,733,045...95,736,557
Ensembl chr11:95,728,042...95,736,560 		JBrowse link
G Hoxb13 homeobox B13 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:96,085,142...96,087,436
Ensembl chr11:96,085,142...96,088,273 		JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,847,989...95,896,770
Ensembl chr11:95,847,989...95,896,766 		JBrowse link
G Itga3 integrin alpha 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627 		JBrowse link
G Kat7 K(lysine) acetyltransferase 7 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,162,683...95,201,030
Ensembl chr11:95,165,085...95,201,072 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,520,603...94,536,049
Ensembl chr11:94,520,593...94,536,042 		JBrowse link
G Luc7l3 LUC7-like 3 (S. cerevisiae) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,181,899...94,213,196
Ensembl chr11:94,178,716...94,212,814 		JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,544,593...94,552,758
Ensembl chr11:94,544,593...94,550,915 		JBrowse link
G Mycbpap MYCBP associated protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,392,173...94,423,219
Ensembl chr11:94,392,173...94,412,568 		JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561 		JBrowse link
G Nxph3 neurexophilin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,400,671...95,405,380
Ensembl chr11:95,400,671...95,405,396 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase, isoenzyme 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,917,084...94,932,197
Ensembl chr11:94,917,084...94,932,180 		JBrowse link
G Phb1 prohibitin 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599 		JBrowse link
G Phospho1 phosphatase, orphan 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,715,326...95,722,966
Ensembl chr11:95,715,325...95,722,966 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,882,038...94,897,724
Ensembl chr11:94,881,861...94,897,725 		JBrowse link
G Rsad1 radical S-adenosyl methionine domain containing 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,430,624...94,447,690
Ensembl chr11:94,430,624...94,440,081 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,900,213...94,916,913
Ensembl chr11:94,900,705...94,916,913 		JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,853,603...94,867,153
Ensembl chr11:94,853,617...94,867,153 		JBrowse link
G Slc35b1 solute carrier family 35, member B1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,275,696...95,282,602
Ensembl chr11:95,275,518...95,282,602 		JBrowse link
G Snf8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,925,711...95,938,256
Ensembl chr11:95,925,711...95,938,256 		JBrowse link
G Spata20 spermatogenesis associated 20 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,369,730...94,376,136
Ensembl chr11:94,369,730...94,377,005 		JBrowse link
G Spop speckle-type BTB/POZ protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,304,909...95,384,236
Ensembl chr11:95,304,906...95,384,232 		JBrowse link
G Tac4 tachykinin 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,152,355...95,160,091
Ensembl chr11:95,152,355...95,160,091 		JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,668,043...94,673,529
Ensembl chr11:94,668,043...94,673,529 		JBrowse link
G Ttll6 tubulin tyrosine ligase-like family, member 6 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:96,015,283...96,057,008
Ensembl chr11:96,024,612...96,056,277 		JBrowse link
G Ube2z ubiquitin-conjugating enzyme E2Z ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,938,257...95,956,190
Ensembl chr11:95,938,258...95,956,214 		JBrowse link
G Xylt2 xylosyltransferase II ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:94,554,671...94,568,341
Ensembl chr11:94,554,677...94,568,341 		JBrowse link
G Zfp652 zinc finger protein 652 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr11:95,639,893...95,655,541
Ensembl chr11:95,603,499...95,725,941 		JBrowse link
Trigeminal Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53 transformation related protein 53 ISO RGD PMID:22977862 RGD:8547771 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
trigeminal neuralgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044 		JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592 		JBrowse link
G Cdk5 cyclin dependent kinase 5 ISO RGD PMID:21161138 RGD:13782378 NCBI chr 5:24,612,595...24,628,737
Ensembl chr 5:24,623,239...24,628,528 		JBrowse link
G Cdk5r1 cyclin dependent kinase 5, regulatory subunit 1 ISO RGD PMID:21161138 RGD:13782378 NCBI chr11:80,367,849...80,372,010
Ensembl chr11:80,367,849...80,372,010 		JBrowse link
G Fos FBJ osteosarcoma oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma 1 IAGP OMIM:190400 MouseDO NCBI chr 5:70,906,512...70,999,960
Ensembl chr 5:70,908,390...70,999,960 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr11:49,737,558...49,777,248
Ensembl chr11:49,737,578...49,777,248 		JBrowse link
G Mir125a microRNA 125a ISO RNA:decreased expression: trigeminal ganglion: RGD PMID:25380251 RGD:26884456 NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141 		JBrowse link
G Prkcg protein kinase C, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 7:3,352,038...3,379,615
Ensembl chr 7:3,337,704...3,379,615 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas achalasia, adrenocortical insufficiency, alacrimia ISO ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr15:102,246,682...102,259,194
Ensembl chr15:102,246,687...102,259,206 		JBrowse link
G Myg1 melanocyte proliferating gene 1 ISO ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia ClinVar NCBI chr15:102,240,144...102,246,574
Ensembl chr15:102,240,144...102,246,574 		JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition		 OMIM
CTD
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A130010J15Rik RIKEN cDNA A130010J15 gene ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:14618417 NCBI chr 1:192,855,777...192,860,145
Ensembl chr 1:192,850,354...192,860,140 		JBrowse link
G Cacna1e calcium channel, voltage-dependent, R type, alpha 1E subunit ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 NCBI chr 1:154,266,552...154,760,374
Ensembl chr 1:154,266,477...154,760,247 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 IAGP
ISO		 OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1		 MouseDO
ClinVar		 PMID:25741868 PMID:36901693 NCBI chr 4:135,269,199...135,300,943
Ensembl chr 4:135,269,199...135,300,941 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO
IAGP		 ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1
OMIM:119300 | OMIM:606713
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 More... NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331 		JBrowse link
Van der Woude Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:21574244 PMID:25741868 NCBI chr 4:118,411,747...118,477,982
Ensembl chr 4:118,411,748...118,477,974 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van der Woude syndrome 2		 OMIM
CTD
ClinVar		 PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 4:135,269,199...135,300,943
Ensembl chr 4:135,269,199...135,300,941 		JBrowse link
G Stpg1 sperm tail PG rich repeat containing 1 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:135,221,971...135,265,015
Ensembl chr 4:135,222,101...135,265,114 		JBrowse link
Vesicular Stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehmt2 euchromatic histone lysine N-methyltransferase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26418342 NCBI chr17:35,117,427...35,133,049
Ensembl chr17:35,117,445...35,133,028 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ameliorates IMP RGD PMID:25326752 RGD:127229916 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		JBrowse link
G Stat2 signal transducer and activator of transcription 2 exacerbates IMP RGD PMID:32759968 RGD:41789624 NCBI chr10:128,106,367...128,128,722
Ensembl chr10:128,106,428...128,128,718 		JBrowse link
Weissenbacher-Zweymuller syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,772,393...69,786,390
Ensembl chr11:69,772,393...69,786,365 		JBrowse link
G Acvr2a activin receptor IIA IAGP OMIM:261800 MouseDO NCBI chr 2:48,704,121...48,793,276
Ensembl chr 2:48,704,121...48,793,281 		JBrowse link
G Auts2 autism susceptibility candidate 2 ISO ClinVar Annotator: match by term: Pierre Robin-like syndrome ClinVar NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,674,862...69,686,742
Ensembl chr11:69,674,862...69,686,769 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,855,605...69,858,712
Ensembl chr11:69,855,605...69,858,711 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome ClinVar PMID:9536098 PMID:10677296 PMID:15372529 PMID:15558753 PMID:17576681 More... NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,871,994...69,881,427
Ensembl chr11:69,871,982...69,881,427 		JBrowse link
G Dlx6 distal-less homeobox 6 ISO Cleft palate 1, DLX6-related OMIA PMID:24699068 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr 6:6,863,272...6,867,965
Ensembl chr 6:6,863,334...6,868,568 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,891,418...69,900,935
Ensembl chr11:69,891,421...69,903,127 		JBrowse link
G Ebf3 early B cell factor 3 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr 7:136,795,400...136,924,528
Ensembl chr 7:136,795,402...136,916,174 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,859,050...69,872,352
Ensembl chr11:69,859,048...69,873,343 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,686,894...69,693,775
Ensembl chr11:69,686,894...69,692,683 		JBrowse link
G Gabarap gamma-aminobutyric acid receptor associated protein ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,882,196...69,885,775
Ensembl chr11:69,881,969...69,885,777 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,804,805...69,807,882
Ensembl chr11:69,804,714...69,807,417 		JBrowse link
G Kctd11 potassium channel tetramerisation domain containing 11 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,769,090...69,771,811
Ensembl chr11:69,769,087...69,772,232 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 IAGP OMIM:261800 MouseDO NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,792,545...69,804,648
Ensembl chr11:69,791,898...69,804,646 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,713,949...69,728,610
Ensembl chr11:69,713,948...69,728,610 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,886,592...69,890,837
Ensembl chr11:69,886,603...69,890,835 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,734,937...69,742,884
Ensembl chr11:69,737,202...69,742,884 		JBrowse link
G Polr2a polymerase (RNA) II (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,624,823...69,649,459
Ensembl chr11:69,624,823...69,649,463 		JBrowse link
G Slc2a4 solute carrier family 2 (facilitated glucose transporter), member 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014 		JBrowse link
G Snrpb small nuclear ribonucleoprotein B ISO ClinVar Annotator: match by term: Pierre Robin Syndrome ClinVar NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 IAGP OMIM:261800 MouseDO NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
G Sox9 SRY (sex determining region Y)-box 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234473 NCBI chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,711,697...69,712,991
Ensembl chr11:69,711,702...69,713,006 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,707,386...69,709,313
Ensembl chr11:69,707,392...69,709,291 		JBrowse link
G Tfrc transferrin receptor IAGP OMIM:261800 MouseDO NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,694,421...69,696,450
Ensembl chr11:69,694,429...69,696,450 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,729,375...69,730,813
Ensembl chr11:69,729,340...69,730,444 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,766,880...69,768,997
Ensembl chr11:69,766,883...69,768,879 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,741,389...69,749,556
Ensembl chr11:69,741,831...69,749,556 		JBrowse link
G Tnnt3 troponin T3, skeletal, fast ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:142,052,530...142,069,746
Ensembl chr 7:142,052,573...142,069,746 		JBrowse link
G Ybx2 Y box protein 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,826,652...69,832,430
Ensembl chr11:69,826,622...69,832,431 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr11:69,656,738...69,674,852
Ensembl chr11:69,656,738...69,674,849 		JBrowse link
Weyers acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17576681 More... NCBI chr 5:37,446,314...37,495,489
Ensembl chr 5:37,446,442...37,494,238 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12571802 PMID:16404586 PMID:17024374 PMID:17576681 More... NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399 		JBrowse link
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
X-linked cleft palate with or without ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box 22 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate X-linked | ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked
OMIM:303400		 OMIM
CTD
ClinVar
MouseDO		 PMID:839509 PMID:14729838 PMID:16247549 PMID:17868388 PMID:22784330 More... NCBI chr  X:106,711,570...106,732,586
Ensembl chr  X:106,711,570...106,732,584 		JBrowse link
Xerostomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4 interleukin 4 IMP RGD PMID:16413168 RGD:7829771 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO
IAGP		 ClinVar Annotator: match by term: Yunis-Varon syndrome
CTD Direct Evidence: marker/mechanism
OMIM:216340		 OMIM
ClinVar
CTD
MouseDO		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256 		JBrowse link
G Vac14 Vac14 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr 8:111,345,161...111,447,030
Ensembl chr 8:111,345,217...111,447,030 		JBrowse link
Zimmerman Laband Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363 		JBrowse link
G Kcnh1 potassium voltage-gated channel, subfamily H (eag-related), member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laband syndrome		 CTD
ClinVar		 PMID:23020937 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 More... NCBI chr 1:191,871,759...192,192,467
Ensembl chr 1:191,873,082...192,192,467 		JBrowse link
Zimmermann-Laband Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 ClinVar PMID:18541964 PMID:23994350 PMID:25915598 NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363 		JBrowse link
G Kcnh1 potassium voltage-gated channel, subfamily H (eag-related), member 1 ISO ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar		 PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 More... NCBI chr 1:191,871,759...192,192,467
Ensembl chr 1:191,873,082...192,192,467 		JBrowse link
Zimmermann-Laband Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 | ClinVar Annotator: match by term: Zimmermann-Laband syndrome with epileptic encephalopathy OMIM
ClinVar		 PMID:18541964 PMID:23994350 PMID:25741868 PMID:25915598 NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363 		JBrowse link
Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 ISO ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:31155282 NCBI chr 3:89,427,471...89,579,801
Ensembl chr 3:89,427,471...89,582,439 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Stomatognathic Diseases 1328
      Jaw Diseases + 374
      Pharyngeal Diseases + 271
      Stomatognathic System Abnormalities + 574
      Temporomandibular Joint Disorders + 23
      mouth disease + 1001
      tooth disease + 439
paths to the root