Stomatognathic Diseases - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:9001349	browse the term
Definition:	General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx.
Synonyms:	exact_synonym:	dental disease; dental diseases; mouth and tooth diseases; stomatognathic disease
	xref:	MESH:D009057
	subset:	RGD_JBrowse_slim

show annotations for term's descendants Sort by:
Rat (1368) Mouse (1360) Human (39692) Chinchilla (1265) Bonobo (1328) Dog (1332) Squirrel (1268) Pig (1310) Green Monkey (1303) Naked Mole-rat (1257) All
Genes (1355) Cell Lines (5)

Stomatognathic Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

CTD Direct Evidence: marker/mechanism

NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173

ablepharon macrostomia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

twist basic helix-loop-helix transcription factor 2

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

Abruzzo-Erickson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

T-box 22

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

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

achalasia, adrenocortical insufficiency, alacrimia

susceptibility

PMID:16098009 PMID:16098009

RGD:1598514, RGD:1598514

NCBI chr15:102,246,682...102,259,194
Ensembl chr15:102,246,687...102,259,206

G

histocompatibility 2, class II antigen A, alpha

DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24997987 PMID:11837716

NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797

G

histocompatibility 2, class II antigen A, beta 1

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

G

lamin A

OMIM:200400

NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263

G

nitric oxide synthase 1, neuronal

OMIM:200400

NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

RGD

NCBI chr 9:121,471,782...121,502,020
Ensembl chr 9:121,471,782...121,502,020

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

RGD

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

adenoid cystic carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chr13:14,238,334...14,374,188
Ensembl chr13:14,237,817...14,374,188

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,928,353...68,114,596
Ensembl chr10:67,928,350...68,114,570

G

abnormal spindle microtubule assembly

CTD Direct Evidence: marker/mechanism

NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829

G

ataxia telangiectasia mutated

CTD Direct Evidence: marker/mechanism

NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040

G

ataxia telangiectasia and Rad3 related

treatment

RGD

NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma

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

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123

G

BCL6 interacting corepressor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr X:11,902,976...12,026,769
Ensembl chr X:11,902,979...12,026,594

G

BCL6 co-repressor-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:47,430,235...47,496,945
Ensembl chr X:47,430,235...47,496,926

G

breast cancer 1, early onset

CTD Direct Evidence: marker/mechanism

NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:88,571,237...88,618,508
Ensembl chr15:88,571,237...88,618,436

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,941,977...110,951,121
Ensembl chr 8:110,942,297...110,951,118

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 6:104,469,566...104,840,367
Ensembl chr 6:104,469,751...104,840,367

G

CREB binding protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

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

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005

G

denticleless E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,269,468...191,307,656
Ensembl chr 1:191,269,468...191,307,656

G

deltex 4, E3 ubiquitin ligase

CTD Direct Evidence: marker/mechanism

NCBI chr19:12,443,700...12,479,509
Ensembl chr19:12,443,702...12,478,818

G

EF hand domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,192,075...87,238,563
Ensembl chr 1:87,192,085...87,238,561

G

engrailed 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278

G

Erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr13:103,955,294...104,057,094
Ensembl chr13:103,955,295...104,057,022

G

extra spindle pole bodies 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr15:102,204,688...102,232,792
Ensembl chr15:102,204,701...102,232,792

G

Fanconi anemia, complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294

G

F-box and WD-40 domain protein 7

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:23685749 PMID:26619011

NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chr X:104,808,083...104,820,138
Ensembl chr X:104,807,885...104,818,545

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:14,901,348...15,441,976
Ensembl chr 6:14,901,348...15,441,976

G

growth arrest specific 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:51,511,560...51,644,753
Ensembl chr 7:51,511,763...51,644,723

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:121,308,005...121,315,814
Ensembl chr 8:121,305,372...121,316,043

G

guanylate cyclase 1, soluble, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096

G

H1.4 linker histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541

G

H2A clustered histone 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,754,837...23,755,394
Ensembl chr13:23,754,691...23,755,394

G

homer scaffolding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011

G

Harvey rat sarcoma virus oncogene

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

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

G

isocitrate dehydrogenase 1 (NADP+), soluble

ClinVar Annotator: match by term: Adenocystic carcinoma

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

G

insulin-like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chr14:26,760,990...26,829,243
Ensembl chr14:26,760,898...26,829,243

G

insulin receptor-related receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408

G

Iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727

G

myo-inositol 1-phosphate synthase A1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,047,131...71,049,940
Ensembl chr 8:71,047,023...71,049,940

G

integrin beta 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238

G

jagged 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:104,224,327...104,360,584
Ensembl chr11:104,224,055...104,359,687

G

K(lysine) acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275

G

lysine (K)-specific demethylase 6A

exacerbates

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

G

KDM1 lysine (K)-specific demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501

G

lysine (K)-specific methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23685749 PMID:31483290

NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781

G

Kirsten rat sarcoma viral oncogene homolog

ClinVar Annotator: match by term: Adenocystic carcinoma

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

G

keratin 15

CTD Direct Evidence: marker/mechanism

NCBI chr11:100,022,585...100,026,775
Ensembl chr11:100,022,584...100,026,754

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Adenocystic carcinoma

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

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:93,652,434...94,260,906
Ensembl chr 6:93,652,436...94,260,898

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:51,595,032...52,012,740
Ensembl chr 3:51,593,328...52,012,497

G

mitogen-activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,009,239...37,014,922
Ensembl chr10:37,009,371...37,014,916

G

MAP/microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157

G

MAX gene associated

CTD Direct Evidence: marker/mechanism

NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,376,079...79,395,229
Ensembl chr10:79,376,079...79,391,033

G

megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)

CTD Direct Evidence: marker/mechanism

NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:89,973,722...89,996,873
Ensembl chr 9:89,973,718...89,996,827

G

myeloblastosis oncogene

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883

G

myeloblastosis oncogene-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:9,737,632...9,770,664
Ensembl chr 1:9,737,640...9,770,434

G

MYC binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:123,798,806...123,806,043
Ensembl chr 4:123,798,625...123,806,062

G

v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915

G

neuropilin (NRP) and tolloid (TLL)-like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:86,363,347...86,428,011
Ensembl chr 8:86,363,217...86,427,553

G

nuclear factor I/B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:82,208,410...82,424,988
Ensembl chr 4:82,208,410...82,623,987

G

notch 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

nuclear receptor-binding SET-domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138

G

neurotrophic tyrosine kinase, receptor, type 3

treatment

RGD

NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr X:7,786,061...7,790,649
Ensembl chr X:7,786,061...7,790,649

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:96,736,772...96,778,242
Ensembl chr 3:96,736,600...96,778,242

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

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

G

protein kinase, DNA activated, catalytic polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

G

brain glycogen phosphorylase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,628,716...150,673,668
Ensembl chr 2:150,628,655...150,673,678

G

RNA binding protein, fox-1 homolog (C. elegans) 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204

G

serine (or cysteine) peptidase inhibitor, clade F, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527

G

SET domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640

G

solute carrier family 24 (sodium/potassium/calcium exchanger), member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:145,009,695...145,484,086
Ensembl chr 2:145,009,674...145,484,086

G

solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2

disease_progression

RGD

NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733

G

solute carrier family 7 (cationic amino acid transporter, y+ system), member 5

disease_progression

RGD

NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chr X:150,799,386...150,844,969
Ensembl chr X:150,799,424...150,845,690

G

Son DNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:91,444,712...91,476,080
Ensembl chr16:91,444,394...91,476,109

G

SRY (sex determining region Y)-box 11

CTD Direct Evidence: marker/mechanism

NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573

G

SRY (sex determining region Y)-box 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696

G

Snf2-related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:34,957,872...35,028,160
Ensembl chr 9:34,957,872...35,030,564

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366

G

tousled-like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:70,542,751...70,656,505
Ensembl chr 2:70,542,751...70,656,072

G

topoisomerase (DNA) II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015

G

transformation related protein 53

disease_progression

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...

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

ubiquitin-like, containing PHD and RING finger domains, 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:56,610,405...56,630,486
Ensembl chr17:56,610,321...56,630,486

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr13:89,803,429...89,891,146
Ensembl chr13:89,803,431...89,890,628

G

wingless-type MMTV integration site family, member 5B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:119,409,493...119,521,847
Ensembl chr 6:119,409,492...119,521,308

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

RGD

NCBI chr 2:146,854,672...146,919,922
Ensembl chr 2:146,854,916...146,919,920

adenoid squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HNF1 homeobox A

RGD

NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153

ADULT syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transformation related protein 63

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

aggressive periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein/retinoic acid inducible neural specific 3

mRNA:increased expression:saliva

RGD

NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210

G

C-C motif chemokine ligand 2

susceptibility

DNA:polymorphism,haplotype::2518A>G(human)

RGD

NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279

G

C-C motif chemokine receptor 2

susceptibility

DNA:polymorphism,haplotype:cds:p.V64I(human)

RGD

NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594

G

collagen, type I, alpha 1

DNA:SNP

RGD

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

C-reactive protein, pentraxin-related

protein:increased expression:serum:

RGD

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

cathepsin C

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

G

glutathione S-transferase, mu 1

RGD

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

glutathione S-transferase, theta 1

RGD

NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418

G

interleukin 10

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

G

interleukin 1 receptor, type II

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

G

interleukin 2

RGD

NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108

G

interleukin 6

DNA:SNP:promoter:-174G>C (human)

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

periostin, osteoblast specific factor

OMIM:170650 | OMIM:608526

NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

RGD

NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817

agnathia-otocephaly complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box H1

OMIM:202650

NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148

G

paired related homeobox 1

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

G

trafficking protein particle complex 10

OMIM:202650

NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475

alacrima, achalasia, and impaired intellectual development syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angio-associated migratory protein

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,318,999...74,324,833
Ensembl chr 1:74,318,999...74,323,897

G

ATP-binding cassette, sub-family B member 6

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036

G

ankyrin repeat and zinc finger domain containing 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,168,794...75,176,031
Ensembl chr 1:75,168,795...75,176,031

G

actin related protein 2/3 complex, subunit 2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,275,656...74,307,368
Ensembl chr 1:74,275,243...74,307,368

G

acid-sensing ion channel family member 4

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,426,467...75,450,984
Ensembl chr 1:75,427,080...75,450,987

G

autophagy related 9A

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,157,509...75,168,654
Ensembl chr 1:75,157,504...75,168,840

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602

G

ciliogenesis associated TTC17 interacting protein

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,401,272...74,408,482
Ensembl chr 1:74,401,267...74,408,480

G

cyclin dependent kinase 5, regulatory subunit 2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,894,188...74,896,891
Ensembl chr 1:74,894,093...74,896,891

G

cilia and flagella associated protein 65

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,941,230...74,974,785
Ensembl chr 1:74,941,230...74,974,758

G

chondroitin polymerizing factor

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,451,213...75,456,115
Ensembl chr 1:75,451,213...75,455,951

G

CCR4-NOT transcription complex, subunit 9

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,545,192...74,570,001
Ensembl chr 1:74,545,217...74,570,001

G

cyclin Pas1/PHO80 domain containing 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,112,406...75,119,374
Ensembl chr 1:75,111,198...75,119,355

G

crystallin, beta A2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,929,093...74,938,001
Ensembl chr 1:74,929,093...74,932,302

G

CTD small phosphatase 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,430,625...74,436,444
Ensembl chr 1:74,430,668...74,436,444

G

C-X-C motif chemokine receptor 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790

G

C-X-C motif chemokine receptor 2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405

G

cytochrome P450, family 27, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,752,311...74,777,056
Ensembl chr 1:74,752,733...74,777,051

G

desmin

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223

G

DnaJ heat shock protein family (Hsp40) member B2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,213,039...75,222,336
Ensembl chr 1:75,213,050...75,222,336

G

aspartyl aminopeptidase

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,285,209...75,294,648
Ensembl chr 1:75,284,540...75,294,634

G

FEV transcription factor, ETS family member

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,920,660...74,924,632
Ensembl chr 1:74,920,668...74,924,578

G

galactosidase, beta 1-like

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,174,178...75,187,460
Ensembl chr 1:75,174,880...75,187,457

G

GDP-mannose pyrophosphorylase A

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
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

G

G protein-coupled bile acid receptor 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,316,269...74,318,868
Ensembl chr 1:74,317,709...74,318,783

G

Indian hedgehog

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831

G

microRNA 26b

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,433,469...74,433,553
Ensembl chr 1:74,433,469...74,433,553

G

microRNA 375

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,939,817...74,939,880
Ensembl chr 1:74,939,817...74,939,880

G

non-homologous end joining factor 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844

G

obscurin-like 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,462,469...75,483,134
Ensembl chr 1:75,455,954...75,483,096

G

phospholipase C, delta 4

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,581,175...74,605,137
Ensembl chr 1:74,582,047...74,606,953

G

paroxysmal nonkinesiogenic dyskinesia

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,323,757...74,392,851
Ensembl chr 1:74,324,089...74,392,853

G

protein kinase, AMP-activated, gamma 3 non-catalytic subunit

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,778,062...74,788,623
Ensembl chr 1:74,778,081...74,788,380

G

protein tyrosine phosphatase receptor type N

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,223,679...75,241,437
Ensembl chr 1:75,223,671...75,241,146

G

regulated endocrine-specific protein 18

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,248,841...75,255,059
Ensembl chr 1:75,248,843...75,255,059

G

reticulophagy regulator family member 2

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,119,432...75,124,553
Ensembl chr 1:75,119,422...75,124,557

G

ring finger protein 25

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,632,907...74,640,556
Ensembl chr 1:74,632,907...74,640,556

G

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221

G

solute carrier family 23 (nucleobase transporters), member 3

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,102,185...75,112,113
Ensembl chr 1:75,102,185...75,110,534

G

SPEG complex locus

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,351,931...75,408,964
Ensembl chr 1:75,351,941...75,408,964

G

serine/threonine kinase 16

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,187,463...75,192,250
Ensembl chr 1:75,187,482...75,192,250

G

serine/threonine kinase 36

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,640,583...74,676,053
Ensembl chr 1:74,640,604...74,676,053

G

transmembrane BAX inhibitor motif containing 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,327,406...74,343,495
Ensembl chr 1:74,327,406...74,344,781

G

transmembrane protein 198

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,456,115...75,462,337
Ensembl chr 1:75,456,176...75,462,349

G

tubulin tyrosine ligase-like family, member 4

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,700,804...74,740,991
Ensembl chr 1:74,700,904...74,742,889

G

tubulin, alpha 4A

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,190,867...75,197,905
Ensembl chr 1:75,190,872...75,196,509

G

ubiquitin specific peptidase 37

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,474,669...74,583,447
Ensembl chr 1:74,474,670...74,583,443

G

villin 1

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,448,543...74,474,719
Ensembl chr 1:74,448,535...74,474,718

G

wingless-type MMTV integration site family, member 10A

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338

G

wingless-type MMTV integration site family, member 6

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,793,499...74,824,481
Ensembl chr 1:74,811,051...74,824,481

G

zinc finger, AN1 type domain 2B

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:75,145,290...75,148,270
Ensembl chr 1:75,145,290...75,148,273

G

zinc finger protein 142

ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

NCBI chr 1:74,605,490...74,627,308
Ensembl chr 1:74,604,286...74,627,405

Alveolar Bone Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

treatment

associated with periodontal disease

RGD

NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 9:22,038,023...22,047,042
Ensembl chr 9:22,038,023...22,047,007

G

angiotensin II receptor, type 1a

treatment

associated with periodontal disease

RGD

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

angiotensin II receptor, type 2

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403

G

alkaline phosphatase, liver/bone/kidney

treatment

CTD Direct Evidence: marker/mechanism
associated with hypertension, periodontal disease

CTD
RGD

PMID:20630305 PMID:33364953

NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695

G

C-C motif chemokine receptor 2

associated with Periodontitis;

RGD

NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594

G

cathepsin K

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673

G

C-X-C motif chemokine ligand 3

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459

G

interleukin 10

treatment

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

G

interleukin 1 beta

treatment

associated with periodontal disease

RGD

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 6

treatment

associated with periodontal disease

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

integrin alpha V

treatment

associated with periodontal disease

RGD

NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260

G

MAS1 oncogene

treatment

associated with periodontal disease

RGD

NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

RGD

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

osteoclast associated receptor

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 7:3,612,812...3,619,156
Ensembl chr 7:3,612,812...3,619,156

G

poly (ADP-ribose) polymerase family, member 1

RGD

NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819

G

peroxisome proliferator activated receptor gamma

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360

G

tumor necrosis factor

treatment

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

G

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

treatment

associated with periodontal disease

RGD

NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709

G

tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)

treatment

associated with periodontal disease

RGD

NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880

G

tumor necrosis factor (ligand) superfamily, member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

CTD
RGD

PMID:19249596 PMID:33364953

NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483

G

vitronectin

treatment

associated with periodontal disease

RGD

NCBI chr11:78,389,946...78,393,151
Ensembl chr11:78,389,917...78,393,150

amelogenesis imperfecta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802

G

amelogenin, X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:167,959,110...167,970,205
Ensembl chr X:167,959,110...167,970,196

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:167,578,091...168,087,436
Ensembl chr X:167,578,095...168,087,431

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 4:84,185,041...84,593,236
Ensembl chr 4:84,193,332...84,593,512

G

coiled-coil-helix-coiled-coil-helix domain containing 2

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 5:129,910,002...129,916,311
Ensembl chr 5:129,909,997...129,916,311

G

collagen, type XVII, alpha 1

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533

G

collagen, type VII, alpha 1

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122

G

enamelin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia

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

G

FAM20C, golgi associated secretory pathway kinase

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

G

family with sequence similarity 83, member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457

G

kallikrein related-peptidase 4 (prostase, enamel matrix, prostate)

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 7:43,530,584...43,535,228
Ensembl chr 7:43,530,584...43,535,228

G

laminin, beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186

G

laminin, gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25669657 PMID:35998423

NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

G

RELT tumor necrosis factor receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653

G

solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350

G

trans-acting transcription factor 6

RGD

NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590

amelogenesis imperfecta hypomaturation type 2A2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 20 (enamelysin)

ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2
CTD Direct Evidence: marker/mechanism
OMIM:612529

OMIM
ClinVar
CTD
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

amelogenesis imperfecta hypomaturation type 2A3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 72

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

amelogenesis imperfecta hypomaturation type 2A4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

odontogenesis associated phosphoprotein

ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4

PMID:22901946 PMID:25741868

NCBI chr 5:92,135,332...92,143,176
Ensembl chr 5:92,135,334...92,143,179

amelogenesis imperfecta hypomaturation type 2A5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5

PMID:23375655 PMID:24621671 PMID:25741868

NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350

amelogenesis imperfecta type 1A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen, type XVII, alpha 1

ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A

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

G

laminin, beta 3

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

amelogenesis imperfecta type 1B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen, type XVII, alpha 1

ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local

NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122

G

enamelin

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...

NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908

amelogenesis imperfecta type 1C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enamelin

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

G

matrix metallopeptidase 20 (enamelysin)

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590

amelogenesis imperfecta type 1E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin, X-linked

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

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth

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

amelogenesis imperfecta type 1F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ameloblastin

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F

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

amelogenesis imperfecta type 1G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A, golgi associated secretory pathway pseudokinase

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction

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

G

protein kinase, cAMP dependent regulatory, type I, alpha

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction

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

amelogenesis imperfecta type 1H

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin beta 6

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H

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

amelogenesis imperfecta type 1J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J

PMID:25741868 PMID:27843125 PMID:28513613

NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802

amelogenesis imperfecta type 1K

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

trans-acting transcription factor 6

NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560

amelogenesis imperfecta type 2A1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kallikrein related-peptidase 4 (prostase, enamel matrix, prostate)

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

amelogenesis imperfecta type 2A6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6

PMID:25741868 PMID:27693231

NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457

amelogenesis imperfecta type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 83, member H

ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta

PMID:18252228 PMID:18484629 PMID:19407157 PMID:22414746 PMID:25741868 More...

NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185

amelogenesis imperfecta type 3A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 83, member H

ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A

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

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chr 5:88,523,967...88,533,775
Ensembl chr 5:88,523,967...88,533,775

amelogenesis imperfecta type 3C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELT tumor necrosis factor receptor

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

amelogenesis imperfecta type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

distal-less homeobox 3

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

amyotrophic lateral sclerosis type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrin 3

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

Ankyloblepharon Filiforme Adnatum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transformation related protein 63

ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum

NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transformation related protein 63

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...

NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852

ankyloglossia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing G protein coupled receptor 5

OMIM:106280

NCBI chr10:115,286,219...115,423,685
Ensembl chr10:115,286,216...115,423,685

G

obscurin-like 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr 1:75,462,469...75,483,134
Ensembl chr 1:75,455,954...75,483,096

G

ryanodine receptor 1, skeletal muscle

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604

anodontia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axin 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

RGD

NCBI chr19:30,523,276...30,526,896
Ensembl chr19:30,523,263...30,527,065

G

ectodysplasin-A

ClinVar Annotator: match by term: Partial congenital absence of teeth

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

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

G

GLI-Kruppel family member GLI3

DNA:SNP: :rs929387 (human)

RGD

NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611

G

Iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:93,084,424...93,088,084
Ensembl chr 8:93,084,253...93,102,914

G

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

ClinVar Annotator: match by term: Partial congenital absence of teeth

PMID:25741868 PMID:26224535 PMID:28492532 PMID:30542205 PMID:30856165 More...

NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534

G

keratinocyte differentiation factor 1

ClinVar Annotator: match by term: Partial congenital absence of teeth

NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

RGD

NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

msh homeobox 1

autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927

G

paired box 9

ClinVar Annotator: match by term: Partial congenital absence of teeth

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

G

RAN binding protein 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

G

solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21

ClinVar Annotator: match by term: Partial congenital absence of teeth

PMID:11827258 PMID:28492532

NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257

Anodontia of Permanent Dentition

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Anodontia of permanent dentition

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

anterior segment dysgenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeodomain transcription factor 2

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

aphthous stomatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeostatic iron regulator

DNA:missense mutation: :p.H63D (human)

RGD

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

heat shock protein 1 (chaperonin)

protein:increased expression:muccal mucosa:

RGD

NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402

G

interleukin 10

DNA:SNP:promoter:-1082G>A (rs1800896) (human)

RGD

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

methylenetetrahydrofolate reductase

severity

DNA:missense mutation:cds:677C>T (rs1801133) (human)

RGD

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

transforming growth factor, beta 1

DNA:SNP:promoter:-509T>C (human)

RGD

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

aplasia of lacrimal and salivary glands

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 10

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

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

protein phosphatase 3, catalytic subunit, alpha isoform

ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition

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

Au-Kline Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase, copper transporting, alpha polypeptide

ClinVar Annotator: match by term: Au-Kline syndrome

PMID:25741868 PMID:28492532

NCBI chr X:105,070,830...105,171,766
Ensembl chr X:105,070,882...105,168,532

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861

G

heterogeneous nuclear ribonucleoprotein K

ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: Okamoto syndrome

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

G

mediator complex subunit 13-like

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr 5:118,698,363...118,903,503
Ensembl chr 5:118,698,744...118,903,503

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Okamoto syndrome

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

AURONEURODENTAL SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronoglucosaminidase 3

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chr 9:107,458,495...107,464,558
Ensembl chr 9:107,458,017...107,464,558

G

N(alpha)-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chr 9:107,457,868...107,461,247
Ensembl chr 9:107,456,086...107,461,249

autosomal dominant congenital deafness with onychodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase, H+ transporting, lysosomal V1 subunit B2

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

autosomal dominant craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

progressive ankylosis

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...

NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995

G

OTU deubiquitinase with linear linkage specificity

ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant

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

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

dentin sialophosphoprotein

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...

NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993

autosomal recessive craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein, alpha 1

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

autosomal recessive Robinow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prickle planar cell polarity protein 1

OMIM:268310

NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772

G

receptor tyrosine kinase-like orphan receptor 2

ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: ROR2-related disorder | 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

Axenfeld-Rieger syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-kinase 1

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176

G

ankyrin 2, brain

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999

G

adaptor-related protein complex 1 associated regulatory protein

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,600,656...127,631,148
Ensembl chr 3:127,600,656...127,631,172

G

family with sequence similarity 241, member A

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,663,337...127,689,972
Ensembl chr 3:127,662,707...127,689,973

G

high mobility group nucleosomal binding domain 2

OMIM:180500

NCBI chr 4:133,692,050...133,695,302
Ensembl chr 4:133,692,049...133,695,961

G

La ribonucleoprotein 7, transcriptional regulator

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998

G

microRNA 302a

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,339,145...127,339,213
Ensembl chr 3:127,339,145...127,339,213

G

microRNA 302b

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,338,877...127,338,950
Ensembl chr 3:127,338,877...127,338,950

G

microRNA 302c

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,339,012...127,339,079
Ensembl chr 3:127,339,012...127,339,079

G

microRNA 302d

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338

G

microRNA 367

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,339,382...127,339,456
Ensembl chr 3:127,339,382...127,339,456

G

neurogenin 2

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,426,382...127,429,285
Ensembl chr 3:127,426,784...127,429,280

G

paired-like homeodomain transcription factor 2

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500

OMIM
ClinVar
MouseDO

PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More...

NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240

G

PR domain containing 5

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994

G

TRAF-interacting protein with forkhead-associated domain

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,582,524...127,592,043
Ensembl chr 3:127,583,454...127,625,813

G

zinc finger, GRF-type containing 1

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 3:127,347,080...127,411,672
Ensembl chr 3:127,347,138...127,411,672

Bamforth-Lazarus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748

G

forkhead box E1

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

Barber-Say syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

twist basic helix-loop-helix transcription factor 2

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

Bartsocas-Papas Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor-interacting serine-threonine kinase 4

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

Bartsocas-Papas Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

conserved helix-loop-helix ubiquitous kinase

ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2

NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919

Basel-Vanagaite-Smirin-Yosef syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 25

ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome

PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More...

NCBI chr 7:44,526,189...44,544,771
Ensembl chr 7:44,526,189...44,542,136

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B member 1A

DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)

RGD

NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575

G

angiotensin I converting enzyme

susceptibility
no_association

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

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778

G

aryl-hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037

G

apolipoprotein A-I

CTD Direct Evidence: marker/mechanism

NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835

G

catalase

protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12074830 PMID:17206395

NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505

G

C-C motif chemokine ligand 2

susceptibility

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

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729

G

C-C motif chemokine receptor 5

no_association

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

G

CD40 ligand

protein:increased expression:plasma

RGD

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008

G

complement factor B

RGD

NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494

G

carboxypeptidase B2

RGD

NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995

G

C-reactive protein, pentraxin-related

protein:increased expression:plasma,erythrocyte:

RGD

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

cytotoxic T-lymphocyte-associated protein 4

DNA:SNPs: :1661A>G,49C>A(human)

RGD

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

C-X-C motif chemokine ligand 15

CTD Direct Evidence: marker/mechanism

NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926

G

cytochrome P450, family 1, subfamily a, polypeptide 1

DNA:SNPs: :4889A>G, 4887C>A (human)

RGD

NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107

G

7-dehydrocholesterol reductase

associated with uveitis; DNA:SNP:CDS:rs12785878 (human)

RGD

NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320

G

coagulation factor V

no_association

DNA:mutation: :1691G>A (human)

RGD

NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

RGD

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

Fc receptor, IgG, low affinity IV

susceptibility

DNA:SNP:exon:p.F158V (rs396991)(human)

RGD

NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330

G

histocompatibility 2, class II antigen A, beta 1

susceptibility

DNA:polymorphisms:cds:multiple (human)

RGD

NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393

G

histocompatibility 2, class II, locus DMa

no_association

RGD

NCBI chr17:34,338,667...34,358,075
Ensembl chr17:34,338,515...34,358,075

G

histocompatibility 2, class II, locus Mb1

no_association

NCBI chr17:34,372,165...34,379,203
Ensembl chr17:34,372,046...34,379,204

G

histocompatibility 2, class II, locus Mb2

no_association

RGD

NCBI chr17:34,362,203...34,370,527
Ensembl chr17:34,362,281...34,370,529

G

histocompatibility 2, class II antigen E beta

susceptibility

DNA:polymorphism: :DRB1*0802(human)

RGD

NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648

G

histocompatibility 2, M region locus 2

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*15 (human)

PMID:12622781 PMID:20622878 PMID:23396137

NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443

G

histocompatibility 2, M region locus 5

DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)

RGD

NCBI chr17:37,294,677...37,308,847
Ensembl chr17:37,294,953...37,300,429

G

histocompatibility 2, Q region locus 4

no_association
disease_progression

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

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

RGD

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

intercellular adhesion molecule 1

susceptibility
no_association

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

G

interferon gamma

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

G

inhibitor of kappaB kinase gamma

DNA:missense mutation:cds:1217A>T(D406V)(human)

RGD

NCBI chr X:73,436,883...73,498,013
Ensembl chr X:73,436,896...73,497,460

G

interleukin 10

disease_progression
onset
susceptibility
treatment

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

G

interleukin 17A

protein:increased expression:plasma (human)

RGD

NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720

G

interleukin 18

susceptibility
no_association

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

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014

G

interleukin 1 beta

protein:increased expression:serum

RGD

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 1 receptor antagonist

protein:increased expression:serum

RGD

NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

interleukin 2

DNA:polymorphism:promoter (human)

RGD

NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108

G

interleukin 21 receptor

RGD

NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742

G

interleukin 23 receptor

susceptibility

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

G

interleukin 4

DNA:polymorphisms:promoter:-33T>C (human)

RGD

NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496

G

interleukin 6

protein:increased secretion:monocyte:

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

interferon regulatory factor 8

susceptibility

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

G

integrin alpha 2

susceptibility

RGD

NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636

G

integrin alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr 7:126,895,404...126,934,309
Ensembl chr 7:126,895,432...126,934,310

G

integrin alpha M

protein:increased expression:neutrophil (human)

RGD

NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663

G

integrin beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542

G

mannose-binding lectin (protein C) 2

susceptibility
severity

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

G

Mediterranean fever

ClinVar Annotator: match by term: Behcet disease

PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330

NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961

G

microRNA 155

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

G

matrix metallopeptidase 2

RGD

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

matrix metallopeptidase 9

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

G

N-acetyltransferase 2 (arylamine N-acetyltransferase)

susceptibility

DNA:polymorphisms: :

RGD

NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236

G

nucleotide-binding oligomerization domain containing 2

susceptibility
no_association

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)

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

G

nitric oxide synthase 3, endothelial cell

susceptibility
no_association

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

G

paraoxonase 1

protein:decreased activity:serum (human)

RGD

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

protein Z, vitamin K-dependent plasma glycoprotein

RGD

NCBI chr 8:13,110,583...13,126,026
Ensembl chr 8:13,110,914...13,126,026

G

proline-serine-threonine phosphatase-interacting protein 1

ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome

PMID:25741868 PMID:28492532

NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172

G

protein tyrosine phosphatase, non-receptor type 22 (lymphoid)

no_association

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

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12074830 PMID:18341631

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1

DNA:polymorphism:intron (human)

RGD

NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221

G

superoxide dismutase 1, soluble

protein:increased activity:serum (human)

RGD

NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217

G

signal transducer and activator of transcription 3

no_association

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

G

signal transducer and activator of transcription 4

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

G

transforming growth factor, beta 1

DNA:polymorphism:promoter:exon (human)

RGD

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

toll-like receptor 2

no_association
susceptibility

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

G

toll-like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

RGD

NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117

G

toll-like receptor 4

no_association
susceptibility

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

G

tumor necrosis factor

no_association

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

G

tumor necrosis factor receptor superfamily, member 1a

protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease

PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787

NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447

G

vitamin D (1,25-dihydroxyvitamin D3) receptor

no_association

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

G

vascular endothelial growth factor A

protein:increased expression:serum

RGD

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

G

vimentin

RGD

NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637

G

Von Willebrand factor

RGD

NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642

Bell's palsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidylprolyl isomerase A

exacerbates

protein:increased expression:blood serum (human)

RGD

NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817

BILATERAL CLEFT LIP

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox C13

Ectodermal dysplasia-9

NCBI chr15:102,829,566...102,837,249
Ensembl chr15:102,829,538...102,837,249

G

pleckstrin homology domain containing, family A member 5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chr 6:140,369,358...140,542,836
Ensembl chr 6:140,369,780...140,542,836

G

SRY (sex determining region Y)-box 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:59,934,972...59,937,045
Ensembl chr X:59,934,972...59,937,036

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

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

Bisphosphonate-Associated Osteonecrosis of the Jaw

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen, type I, alpha 1

treatment

associated with Multiple Myeloma

RGD

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

blepharocheilodontic syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1

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

blepharocheilodontic syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin delta 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2

PMID:25741868 PMID:28301459 PMID:29805042 PMID:32196547

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

BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoglein 3

ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa

PMID:25741868 PMID:30528827

NCBI chr18:20,643,331...20,674,367
Ensembl chr18:20,643,331...20,680,516

brachyolmia-amelogenesis imperfecta syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 3

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

G

SCY1-like 1 (S. cerevisiae)

ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome

PMID:25741868 PMID:28492532

NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447

Braddock-Carey Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 15

ClinVar Annotator: match by term: Braddock-carey syndrome 2

PMID:25741868 PMID:28150392

NCBI chr 9:122,780,146...122,847,798
Ensembl chr 9:122,780,111...122,847,798

Burnett Schwartz Berberian Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

low density lipoprotein receptor-related protein 1

ClinVar Annotator: match by term: Keratosis pilaris

PMID:25741868 PMID:26142438 PMID:28381441

NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017

Carey-Fineman-Ziter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

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

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

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1

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

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2

NCBI chr17:45,911,887...45,913,122
Ensembl chr17:45,911,897...45,913,028

Catel Manzke syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kynureninase

ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME

PMID:25741868 PMID:31923704 PMID:33942433

NCBI chr 2:43,445,270...43,572,734
Ensembl chr 2:43,445,341...43,572,734

G

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome

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

CATIFA Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Catifa syndrome

PMID:25741868 PMID:27878435 PMID:31932796

NCBI chr19:29,499,637...29,583,909
Ensembl chr19:29,499,682...29,584,229

Cayler Cardiofacial Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EYA transcriptional coactivator and phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459

cerebellofaciodental syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome

PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532

NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324

cerebral cavernous malformation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cerebral cavernous malformation 2

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

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr11:6,547,814...6,556,059
Ensembl chr11:6,547,823...6,556,053

cerebral cavernous malformation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

programmed cell death 10

onset
exacerbates

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

G

serine (or cysteine) peptidase inhibitor, clade I, member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation 3

PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532

NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802

cerebrocostomandibular syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

small nuclear ribonucleoprotein B

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...

NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323

cherubism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,581,112...108,582,265
Ensembl chr 5:108,581,110...108,582,314

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,666,420...108,697,893
Ensembl chr 5:108,666,420...108,697,890

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,405,067...33,432,348
Ensembl chr 5:33,405,067...33,432,338

G

diacylglycerol kinase, theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:35,213,922...35,245,183
Ensembl chr 5:35,214,110...35,245,183

G

family with sequence homology 193, member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,527,295...34,643,800
Ensembl chr 5:34,527,277...34,643,800

G

family with sequence similarity 53, member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,757,695...33,787,007
Ensembl chr 5:33,757,691...33,786,979

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412

G

fibroblast growth factor receptor-like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,716,973...108,777,643
Ensembl chr 5:108,717,277...108,777,621

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,817,641...34,912,649
Ensembl chr 5:34,817,723...34,912,649

G

HAUS augmin-like complex, subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,311,240...34,326,768
Ensembl chr 5:34,311,224...34,326,871

G

hepatocyte growth factor activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:35,198,853...35,205,805
Ensembl chr 5:35,198,853...35,205,805

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878

G

iduronidase, alpha-L

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423

G

leucine zipper-EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,897,017...33,940,061
Ensembl chr 5:33,897,017...33,940,161

G

macrophage erythroblast attacher

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,492,916...33,530,638
Ensembl chr 5:33,492,853...33,530,640

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,790,988...34,794,558
Ensembl chr 5:34,790,986...34,794,556

G

Myb/SANT-like DNA-binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:35,071,581...35,084,333
Ensembl chr 5:35,065,356...35,081,183

G

Max dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,331,231...34,345,076
Ensembl chr 5:34,331,227...34,345,064

G

N-acetyltransferase 8-like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,153,328...34,163,260
Ensembl chr 5:34,153,328...34,163,260

G

negative elongation factor complex member A, Whsc2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,055,263...34,093,615
Ensembl chr 5:34,055,260...34,093,757

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,140,863...34,142,353
Ensembl chr 5:34,140,777...34,142,357

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,588,078...33,591,434
Ensembl chr 5:33,588,078...33,591,320

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,795,880...34,817,566
Ensembl chr 5:34,795,880...34,817,492

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,609,082...108,654,842
Ensembl chr 5:108,609,098...108,654,842

G

phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263

G

phosphatidylinositol glycan anchor biosynthesis, class G

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,460,679...108,497,225
Ensembl chr 5:108,460,475...108,497,221

G

DNA polymerase N

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,164,523...34,326,870
Ensembl chr 5:34,164,523...34,326,792

G

regulator of G-protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:35,106,273...35,196,988
Ensembl chr 5:35,106,789...35,196,988

G

Ras-like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,875,971...108,922,933
Ensembl chr 5:108,877,156...108,922,848

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,493,594...34,510,789
Ensembl chr 5:34,493,633...34,512,973

G

SH3-domain binding protein 2

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...

NCBI chr 5:34,683,128...34,720,983
Ensembl chr 5:34,683,182...34,720,985

G

stem-loop binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,797,399...33,809,918
Ensembl chr 5:33,792,296...33,809,918

G

solute carrier family 26 (sulfate transporter), member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,817,744...108,826,246
Ensembl chr 5:108,817,744...108,823,435

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,588,920...108,598,631
Ensembl chr 5:108,588,920...108,596,966

G

spondin 2, extracellular matrix protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,370,862...33,375,596
Ensembl chr 5:33,355,528...33,375,799

G

transforming, acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,814,808...33,836,331
Ensembl chr 5:33,815,472...33,836,339

G

transmembrane protein 129

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,810,560...33,815,321
Ensembl chr 5:33,810,560...33,815,760

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:108,777,649...108,795,636
Ensembl chr 5:108,777,636...108,796,648

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,653,440...34,671,323
Ensembl chr 5:34,653,431...34,671,335

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:33,535,868...33,578,243
Ensembl chr 5:33,535,893...33,577,098

G

zinc finger, FYVE domain containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 5:34,352,237...34,445,796
Ensembl chr 5:34,352,237...34,445,793

Chronic Periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein/retinoic acid inducible neural specific 3

susceptibility

DNA:SNP: :rs1935881(human)

RGD

NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210

G

C-C motif chemokine ligand 2

RGD

NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279

G

C-C motif chemokine ligand 7

disease_progression

protein:increased expression:gingival crevicular fluid, gingvia

RGD

NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351

G

C-C motif chemokine receptor 2

RGD

NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594

G

C-X-C motif chemokine ligand 12

mRNA:increased expression:gingival tissues (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20731768 PMID:21382035

NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues (human)

RGD

NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030

G

disabled 2 interacting protein

associated with Porphyromonas gingivalis infection;DNA:SNP:CDS:rs10760187 (human)

RGD

NCBI chr 2:35,448,285...35,621,006
Ensembl chr 2:35,448,278...35,621,006

G

desmocollin 1

mRNA:decreased expression:gingival tissues (human)

RGD

NCBI chr18:20,216,528...20,247,830
Ensembl chr18:20,217,241...20,247,928

G

desmoglein 1 alpha

mRNA:decreased expression:gingival tissues (human)

RGD

NCBI chr18:20,443,982...20,476,407
Ensembl chr18:20,443,868...20,476,407

G

estrogen receptor 1 (alpha)

no_association

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

G

glutathione S-transferase, mu 1

RGD

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

interleukin 10

DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human)

RGD

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interleukin 1 receptor-like 1

mRNA:increased expression:gingiva

RGD

NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575

G

interleukin 33

mRNA,protein:increased expression:gingiva

RGD

NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118

G

integrin beta 2

mRNA:increased expression:gingival tissues (human)

RGD

NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542

G

potassium channel, subfamily K, member 1

DNA:SNP:CDS:rs11800854 (human)

RGD

NCBI chr 8:126,718,692...126,757,424
Ensembl chr 8:126,721,909...126,757,424

G

microRNA 155

treatment

RGD

NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092

G

matrix metallopeptidase 1a (interstitial collagenase)

no_association
severity

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

G

matrix metallopeptidase 1b (interstitial collagenase)

no_association
severity

mRNA:increased expression:gingiva (human)
DNA:insertion:promoter:g.-1607insG (human)

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

G

matrix metallopeptidase 2

treatment

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

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

nestin

mRNA:decreased expression:gingival tissues (human)

RGD

NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues (human)

RGD

NCBI chr15:78,443,369...78,456,983
Ensembl chr15:78,443,367...78,456,983

G

receptor-interacting serine-threonine kinase 3

protein:increased expression,'increased phosphorylation:gingiva (human)

RGD

NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322

G

toll-like receptor 2

severity

protein:increased expression:gingiva:

RGD

NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074

G

toll-like receptor 3

severity

protein:increased expression:gingiva:

RGD

NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117

G

toll-like receptor 4

severity

protein:increased expression:gingiva:

RGD

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

G

toll-like receptor 9

severity

protein:increased expression:gingiva:

RGD

NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082

G

tumor necrosis factor (ligand) superfamily, member 11

CTD Direct Evidence: marker/mechanism

NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483

G

vitamin D (1,25-dihydroxyvitamin D3) receptor

susceptibility

DNA:SNP:exon:rs731236(human)

RGD

NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511

cleft lip

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family A member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772

G

ADAM metallopeptidase with thrombospondin type 1 motif 20

Cleft lip with or without cleft palate, ADAMTS20-related

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

G

Rho GTPase activating protein 29

ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate

NCBI chr 3:121,746,752...121,810,326
Ensembl chr 3:121,746,190...121,810,402

G

betaine-homocysteine methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:93,792,605...93,810,810
Ensembl chr13:93,792,228...93,810,810

G

bone morphogenetic protein 4

susceptibility

DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)

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

G

cadherin 1

susceptibility

DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate

PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 More...

NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878

G

catenin delta 1

ClinVar Annotator: match by term: Cleft lip with or without cleft palate

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

G

epithelial splicing regulatory protein 2

ClinVar Annotator: match by term: Cleft lip with or without cleft palate

NCBI chr 8:106,856,658...106,863,825
Ensembl chr 8:106,856,951...106,863,606

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

RGD

NCBI chr18:38,971,725...39,062,532
Ensembl chr18:38,971,726...39,062,525

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human)

CTD
RGD

PMID:17963255 PMID:24613087

NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412

G

growth differentiation factor 6

RGD

NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345

G

interferon regulatory factor 6

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:25741868 PMID:28492532 More...

NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331

G

kinesin family member 7

DNA:SNPs:introns:rs4932238,rs4932240(human)

RGD

NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468

G

Bmp4 promoter region

ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant

NCBI chr14:46,623,541...46,630,440

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

RGD

NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927

G

methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase

susceptibility
no_association

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

G

methylenetetrahydrofolate reductase

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)

CTD
RGD

PMID:16470725 PMID:27387868

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

5, 10-methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:89,093,243...89,122,278
Ensembl chr 9:89,092,729...89,259,766

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999

G

myelocytomatosis oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223

G

nectin cell adhesion molecule 1

cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060

RGD

NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955

G

noggin

susceptibility

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

G

nitric oxide synthase 3, endothelial cell

CTD Direct Evidence: marker/mechanism

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

netrin 1

ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate

NCBI chr11:68,100,190...68,277,652
Ensembl chr11:68,100,190...68,291,649

G

pleckstrin homology domain containing, family A member 5

ClinVar Annotator: match by term: Cleft lip with or without cleft palate

NCBI chr 6:140,369,358...140,542,836
Ensembl chr 6:140,369,780...140,542,836

G