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 (1324) Cell Lines (8)

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 chr18:48,087,447...48,094,497

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009

ablepharon macrostomia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

twist family bHLH transcription factor 2

ClinVar Annotator: match by term: Ablepharon macrostomia syndrome

PMID:2036354 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 More...

NCBI chr25:49,165,450...49,216,545
Ensembl chr25:49,165,641...49,166,123

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

NCBI chr27:1,889,078...1,900,097
Ensembl chr27:1,889,141...1,900,094

G

major histocompatibility complex, class II, DQ beta 1

CTD Direct Evidence: marker/mechanism
DNA:SNP::rs28688207 (human)
DNA:polymorphism (human)
DNA:polymorphism, haplotype

PMID:11837716 PMID:24997987 PMID:30092016 PMID:30788115

RGD:14865011 RGD:14974238 RGD:5147806

NCBI chr12:2,305,307...2,307,711

G

lamin A/C

OMIM:200400

NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931

G

nitric oxide synthase 1

OMIM:200400

NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

NCBI chr23:11,635,809...11,666,926
Ensembl chr23:11,635,394...11,666,936

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

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 chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:4,602,470...4,752,060
Ensembl chr 4:4,602,667...4,750,469

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:13,926,759...14,105,069
Ensembl chr 4:13,927,217...14,101,364

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

ATR serine/threonine kinase

treatment

NCBI chr23:38,131,956...38,223,888
Ensembl chr23:38,132,788...38,224,016

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980

G

BRCA1 associated deubiquitinase 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 chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073

G

BCL6 corepressor

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr X:34,621,314...34,735,502
Ensembl chr X:34,621,886...34,645,766

G

BCL6 corepressor like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:101,153,952...101,215,365
Ensembl chr X:101,154,823...101,214,175

G

BRCA1 DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,361,043...17,396,725
Ensembl chr10:17,361,117...17,395,928

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,117,795...77,124,995
Ensembl chr 5:77,118,964...77,121,264

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chr20:15,903,412...16,175,131
Ensembl chr20:15,903,591...16,175,319

G

CREB binding protein

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More...

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 7:10,323,842...10,368,529
Ensembl chr 7:10,323,559...10,369,560

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr18:37,535,957...37,570,937
Ensembl chr18:37,538,342...37,591,589

G

EF-hand domain family member D1

CTD Direct Evidence: marker/mechanism

NCBI chr25:44,281,673...44,307,347
Ensembl chr25:44,281,710...44,306,220

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:31,124,325...31,129,538

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:51,613,344...51,730,868
Ensembl chr 2:51,613,230...51,729,021

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr27:1,911,179...1,934,446
Ensembl chr27:1,911,193...1,933,807

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Adenocystic carcinoma

NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chr X:59,738,512...59,748,188
Ensembl chr X:59,739,398...59,748,204

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chr14:53,311,214...53,864,056
Ensembl chr14:53,312,045...53,862,655

G

growth arrest specific 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:44,277,996...44,406,210
Ensembl chr21:44,286,531...44,405,060

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

NCBI chr22:60,975,196...61,005,869
Ensembl chr22:60,974,849...61,005,875

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:66,982,033...66,997,115
Ensembl chr 5:66,982,137...67,000,338

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,172,914...53,236,200
Ensembl chr15:53,174,157...53,234,533

G

H1.4 linker histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chr35:24,091,950...24,092,694

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:44,179,145...44,186,814
Ensembl chr20:44,179,153...44,186,814

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219

G

insulin like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr37:23,553,227...23,569,321
Ensembl chr37:23,559,501...23,569,312

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chr20:33,240,728...33,306,727
Ensembl chr20:33,240,767...33,303,404

G

insulin receptor related receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chr34:10,926,042...10,929,142
Ensembl chr34:10,923,097...10,929,164

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:44,594,816...44,598,495
Ensembl chr20:44,489,219...44,598,497

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr 4:15,006,670...15,261,139
Ensembl chr 4:15,007,508...15,261,691

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

Ensembl chr 9:9,381,737...9,565,976
Ensembl chr 9:9,381,737...9,565,976

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252

G

lysine demethylase 6A

exacerbates

CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)
DNA:mutations:multiple: (human)

PMID:23685749 PMID:31483290

RGD:150429732 RGD:150429736

NCBI chr X:38,745,854...38,964,029
Ensembl chr X:38,745,854...38,959,842

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,689,000...32,711,026
Ensembl chr 5:32,696,211...32,710,666

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:31483290

NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

keratin 15

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,249,887...21,254,131

G

keratin 81

CTD Direct Evidence: marker/mechanism

NCBI chr27:2,776,693...2,782,016

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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,314,597...25,952,256
Ensembl chr20:25,314,923...25,949,921

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:17,973,058...19,098,785
Ensembl chr18:17,918,928...18,930,059

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:2,461,784...3,061,878
Ensembl chr19:2,656,370...3,060,769

G

mitogen-activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chr12:69,980,003...69,987,150
Ensembl chr12:69,980,433...69,984,848

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:53,101,635...53,125,636
Ensembl chr18:53,101,624...53,151,561

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr30:8,633,122...8,805,822
Ensembl chr30:8,711,091...8,802,324

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:58,063,976...58,083,041
Ensembl chr20:58,063,449...58,083,083

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:58,127,152...58,149,709
Ensembl chr 3:58,127,669...58,193,005

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:16,155,867...16,192,814
Ensembl chr29:16,157,821...16,192,808

G

MYC binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr15:3,865,175...3,870,938
Ensembl chr15:3,865,175...3,870,984

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr17:11,720,857...11,724,308

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:67,781,264...67,835,859
Ensembl chr 2:67,789,035...67,835,436

G

nuclear factor I B

CTD Direct Evidence: marker/mechanism

NCBI chr11:34,573,136...35,010,319
Ensembl chr11:34,579,431...34,901,322

G

notch receptor 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999

G

neurotrophic receptor tyrosine kinase 3

treatment

NCBI chr 3:51,131,470...51,491,112
Ensembl chr 3:51,138,751...51,513,024

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,030,708...42,036,363
Ensembl chr X:41,962,524...42,036,586

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,496,977...58,536,772

G

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

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr29:24,904...243,926
Ensembl chr29:35,007...243,895

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

NCBI chr23:1,440,826...1,494,570
Ensembl chr23:1,420,052...1,496,245

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:28,284,836...28,494,618
Ensembl chr10:28,192,683...28,489,114

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr24:3,593,562...4,014,366
Ensembl chr24:3,593,513...3,784,467

G

solute carrier family 3 member 2

disease_progression

NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chr X:45,099,312...45,148,103
Ensembl chr X:45,109,653...45,148,001

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr31:28,165,758...28,198,692

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

G

SRY-box transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154

G

Snf2 related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,437,097...17,470,724

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 5:8,132,663...8,160,008
Ensembl chr 5:8,133,085...8,141,254

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

tousled like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr36:15,524,350...15,675,019
Ensembl chr36:15,526,564...15,675,678

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496

G

tumor protein p53

disease_progression

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

ubiquitin like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:54,858,673...54,889,769
Ensembl chr20:54,859,947...54,889,907

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr 3:24,127,293...24,238,859
Ensembl chr 3:24,119,181...24,239,192

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chr27:43,662,482...43,679,713
Ensembl chr27:43,620,284...43,677,078

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

NCBI chr24:2,042,521...2,128,942
Ensembl chr24:2,042,888...2,128,867

G

zinc finger imprinted 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:101,156,317...101,186,321

adenoid squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HNF1 homeobox A

NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790

ADULT syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome

PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More...

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

aggressive periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMP/retinoic acid inducible neural specific 3

mRNA:increased expression:saliva

NCBI chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482

G

C-C motif chemokine ligand 2

susceptibility

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

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine receptor 2

susceptibility

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

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

collagen type I alpha 1 chain

DNA:SNP

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

C-reactive protein

protein:increased expression:serum:

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

cathepsin C

ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1

PMID:10581027 PMID:10662808 PMID:11180012 PMID:14974080 PMID:15585850 More...

NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816

G

interleukin 10

DNA:SNP:promoter:-592C>A (rs1800872) (human)
protien:decreased expression:plasma

PMID:28662328 PMID:28868949

RGD:14975139 RGD:14975264

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 1 receptor type 2

DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human)
associated with Periodontitis;

PMID:18315432 PMID:24818754

RGD:8662884 RGD:8662885

NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113

G

interleukin 2

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 6

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

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

peptidylprolyl isomerase A (cyclophilin A) pseudogene

protein:increased expression:gingiva (human)

NCBI chr 7:80,937,433...80,938,175

G

periostin

OMIM:170650 | OMIM:608526

NCBI chr25:3,167,319...3,208,970
Ensembl chr25:3,167,359...3,208,411

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 chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319

G

paired related homeobox 1

ClinVar Annotator: match by term: Agnathia-otocephaly complex

PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More...

NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chr31:37,910,480...37,999,559
Ensembl chr31:37,910,322...37,997,188

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 cell protein

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

NCBI chr37:24,943,660...24,948,589
Ensembl chr37:24,937,081...24,948,529

G

ATP binding cassette subfamily B member 6

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

NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887

G

actin related protein 2/3 complex subunit 2

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

NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824

G

acid sensing ion channel subunit family member 4

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

NCBI chr37:26,024,136...26,048,060
Ensembl chr37:26,024,947...26,048,077

G

autophagy related 9A

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

NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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

NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263

G

cilia and flagella associated protein 65

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

NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885

G

chondroitin polymerizing factor

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

NCBI chr37:26,048,236...26,052,871
Ensembl chr37:26,025,993...26,052,806

G

CCR4-NOT transcription complex subunit 9

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

NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627

G

crystallin beta A2

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

NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284

G

CTD small phosphatase 1

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

NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113

G

C-X-C motif chemokine receptor 2

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

NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247

G

cytochrome P450 family 27 subfamily A member 1

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

NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509

G

desmin

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

NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144

G

aspartyl aminopeptidase

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

NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224

G

FEV transcription factor, ETS family member

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

NCBI chr37:25,548,578...25,552,092

G

galactosidase beta 1 like

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

NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589

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

PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478

NCBI chr37:26,010,531...26,017,798
Ensembl chr37:26,010,638...26,017,787

G

G protein-coupled bile acid receptor 1

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

NCBI chr37:24,937,955...24,943,546
Ensembl chr37:24,940,325...24,943,421

G

Indian hedgehog signaling molecule

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

NCBI chr37:25,616,942...25,622,989

G

microRNA mir-26b

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

NCBI chr37:25,054,488...25,054,543

G

microRNA mir-375

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

NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127

G

non-homologous end joining factor 1

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

NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372

G

obscurin like cytoskeletal adaptor 1

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

NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488

G

phospholipase C delta 4

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

NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961

G

protein tyrosine phosphatase receptor type N

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

NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931

G

reticulophagy regulator family member 2

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

NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808

G

ring finger protein 25

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

NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131

G

solute carrier family 11 member 1

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

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

solute carrier family 23 member 3

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

NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831

G

striated muscle enriched protein kinase

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

NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601

G

serine/threonine kinase 16

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

NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587

G

serine/threonine kinase 36

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

NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137

G

transmembrane protein 198

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

NCBI chr37:26,053,469...26,059,579
Ensembl chr37:26,052,168...26,058,810

G

tubulin tyrosine ligase like 4

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

NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512

G

tubulin alpha 4a

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

NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892

G

ubiquitin specific peptidase 37

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

NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503

G

villin 1

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

NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705

G

Wnt family member 10A

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

NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764

G

Wnt family member 6

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

NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654

G

zinc finger AN1-type containing 2B

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

NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132

G

zinc finger protein 142

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

NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296

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

NCBI chr X:11,798,839...11,839,591
Ensembl chr X:11,798,839...11,900,594

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

NCBI chr20:49,812,444...49,816,262
Ensembl chr20:49,814,032...49,816,260

G

angiotensin II receptor type 1

treatment

associated with periodontal disease

NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238

G

angiotensin II receptor type 2

treatment

associated with hypertension, periodontal disease

NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853

G

alkaline phosphatase, biomineralization associated

treatment

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

PMID:20630305 PMID:33364953

NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820

G

C-C motif chemokine receptor 2

associated with Periodontitis;

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

cathepsin K

treatment

associated with hypertension, periodontal disease

NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 1 beta

treatment

associated with periodontal disease

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 6

treatment

associated with periodontal disease

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

integrin subunit alpha V

treatment

associated with periodontal disease

NCBI chr36:28,815,215...28,890,569
Ensembl chr36:28,804,013...28,887,430

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

osteoclast associated Ig-like receptor

treatment

associated with hypertension, periodontal disease

NCBI chr 1:103,101,462...103,113,593
Ensembl chr 1:103,101,819...103,106,974

G

poly(ADP-ribose) polymerase 1

NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127

G

peroxisome proliferator activated receptor gamma

treatment

associated with hypertension, periodontal disease

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF receptor superfamily member 11a

treatment

associated with periodontal disease

NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041

G

TNF receptor superfamily member 11b

treatment

associated with periodontal disease

NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

PMID:19249596 PMID:33364953

NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645

G

vitronectin

treatment

associated with periodontal disease

NCBI chr 9:42,617,860...42,620,825
Ensembl chr 9:42,614,941...42,630,864

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 1:106,051,901...106,056,137
Ensembl chr 1:106,051,901...106,056,137

G

amelogenin X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:7,822,513...7,828,692
Ensembl chr X:7,822,859...7,830,351

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:7,704,838...8,188,358
Ensembl chr X:7,706,156...7,951,557

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 6:581,276...585,367
Ensembl chr 6:581,280...585,301

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736

G

enamelin

ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia
Amelogenesis imperfecta, ENAM-related

PMID:23638899 PMID:25741868 PMID:28492532 PMID:29201383 PMID:29744112 More...

NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949

G

FAM20C golgi associated secretory pathway kinase

Dental hypomineralization

PMID:27187611 PMID:27803843

NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752

G

family with sequence similarity 83 member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217

G

kallikrein related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 1:105,950,948...105,955,464
Ensembl chr 1:105,951,691...106,007,581

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chr 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089

G

RELT TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 8:1,570,833...1,685,135
Ensembl chr 8:1,517,560...1,680,208

G

Sp6 transcription factor

NCBI chr 9:24,175,979...24,183,245
Ensembl chr 9:24,178,438...24,179,568

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874

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

ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2

PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More...

NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071

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

ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3

PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More...

NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874

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 chr32:133,974...141,303
Ensembl chr32:133,816...140,958

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 member 4

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

PMID:23375655 PMID:24621671 PMID:25741868

NCBI chr 8:1,570,833...1,685,135
Ensembl chr 8:1,517,560...1,680,208

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 chain

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 chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056

G

laminin subunit 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

PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More...

NCBI chr 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474

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 chain

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

NCBI chr28:16,349,926...16,402,213
Ensembl chr28:16,350,564...16,402,056

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736

G

enamelin

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

PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More...

NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949

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

PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More...

NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874

amelogenesis imperfecta type 1E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin X-linked

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:7,822,513...7,828,692
Ensembl chr X:7,822,859...7,830,351

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:7,704,838...8,188,358
Ensembl chr X:7,706,156...7,951,557

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 chr13:59,899,968...59,912,699
Ensembl chr13:59,899,960...59,912,655

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 chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447

G

protein kinase cAMP-dependent type I regulatory subunit 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 chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

amelogenesis imperfecta type 1H

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 6

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

PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More...

NCBI chr36:5,833,206...5,962,699
Ensembl chr36:5,834,638...5,962,633

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 1:106,051,901...106,056,137
Ensembl chr 1:106,051,901...106,056,137

amelogenesis imperfecta type 1K

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Sp6 transcription factor

NCBI chr 9:24,175,979...24,183,245
Ensembl chr 9:24,178,438...24,179,568

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

ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1

PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More...

NCBI chr 1:105,950,948...105,955,464
Ensembl chr 1:105,951,691...106,007,581

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 chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217

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 chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834

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 chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chr13:59,855,278...59,867,133
Ensembl chr13:59,852,490...59,867,516

amelogenesis imperfecta type 3C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELT TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C

PMID:28492532 PMID:30506946 PMID:32052416

NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023

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

ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV

PMID:25741868 PMID:28492532

NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736

amyotrophic lateral sclerosis type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrin 3

ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2

PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More...

NCBI chr11:26,736,728...26,790,449
Ensembl chr11:26,758,261...26,790,449

Ankyloblepharon Filiforme Adnatum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More...

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

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 chr10:13,009,028...13,136,685
Ensembl chr10:13,007,843...13,136,998

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr37:26,059,713...26,079,503
Ensembl chr37:26,059,713...26,079,488

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493

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 chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

NCBI chr26:35,697,428...35,701,596
Ensembl chr26:35,697,618...35,701,496

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:54,078,694...54,515,535
Ensembl chr X:54,078,966...54,515,535

G

ectodysplasin A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More...

NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,957,353...60,978,782
Ensembl chr 2:60,968,193...61,041,385

G

inosine triphosphatase

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

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

NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163

G

keratinocyte differentiation factor 1

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

NCBI chr 2:73,198,278...73,206,691
Ensembl chr 2:73,197,580...73,207,153

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

msh homeobox 1

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

NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447

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 chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099

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 chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

NCBI chr 8:15,239,634...15,708,964
Ensembl chr 8:15,238,719...15,708,526

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 6:1,256,087...1,263,482
Ensembl chr 6:1,256,546...1,263,467

anterior segment dysgenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeodomain 2

ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant

PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:25741868 More...

NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273

aphthous stomatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B9 domain containing 2

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

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

homeostatic iron regulator

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

NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

NCBI chr37:7,010,421...7,025,912

G

methylenetetrahydrofolate reductase

severity

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

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

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

ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of

PMID:15654336 PMID:16630169 PMID:17213838 PMID:25741868 PMID:28492532

NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192

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

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 chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688

Au-Kline Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: Au-Kline syndrome

PMID:25741868 PMID:28492532

NCBI chr X:60,203,336...60,356,525
Ensembl chr X:60,203,270...60,352,869

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176

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 chr 1:75,499,334...75,511,525
Ensembl chr 1:75,499,393...75,511,425

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512

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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323

AURONEURODENTAL SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronidase 3

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chr20:39,041,940...39,047,388
Ensembl chr20:39,042,070...39,047,365

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chr20:39,042,078...39,044,894

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 V1 subunit B2

ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant

PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144

NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819

autosomal dominant craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANKH inorganic pyrophosphate transport regulator

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 chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464

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 chr34:119,307...159,419
Ensembl chr34:122,274...159,394

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

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

PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More...

NCBI chr32:11,017,440...11,022,780

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

ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive

PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532

NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936

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 chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303

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

PMID:10932186 PMID:10932187 PMID:10986040 PMID:15952209 PMID:16049033 More...

NCBI chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151

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 chr32:32,135,110...32,270,732
Ensembl chr32:32,136,738...32,267,264

G

ankyrin 2

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

NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036

G

adaptor related protein complex 1 associated regulatory protein

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

NCBI chr32:32,083,077...32,123,857
Ensembl chr32:32,083,105...32,122,200

G

family with sequence similarity 241 member A

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

NCBI chr32:31,990,486...32,034,616
Ensembl chr32:31,990,621...32,029,631

G

high mobility group nucleosomal binding domain 2

OMIM:180500

NCBI chr 2:73,579,042...73,582,786
Ensembl chr 2:73,579,042...73,610,696

G

La ribonucleoprotein 7, transcriptional regulator

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

NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131

G

microRNA mir-302a

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

NCBI chr32:32,429,209...32,429,277
Ensembl chr32:32,429,209...32,429,277

G

microRNA mir-302b

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

NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574

G

microRNA mir-302c

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

NCBI chr32:32,429,366...32,429,433
Ensembl chr32:32,429,366...32,429,433

G

microRNA mir-302d

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

NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101

G

microRNA mir-367

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

NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972

G

neurogenin 2

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

NCBI chr32:32,310,939...32,313,492
Ensembl chr32:32,312,097...32,312,915

G

paired like homeodomain 2

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

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

NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273

G

PR/SET domain 5

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

NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590

G

TRAF interacting protein with forkhead associated domain

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

NCBI chr32:32,125,870...32,135,159
Ensembl chr32:32,126,634...32,127,191

G

zinc finger GRF-type containing 1

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

NCBI chr32:32,344,348...32,421,485
Ensembl chr32:32,344,791...32,418,441

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 chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More...

NCBI chr11:55,143,389...55,145,954

Barber-Say syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

twist family bHLH transcription factor 2

ClinVar Annotator: match by term: Barber-Say syndrome

PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More...

NCBI chr25:49,165,450...49,216,545
Ensembl chr25:49,165,641...49,166,123

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

ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE

PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More...

NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600

Bartsocas-Papas Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

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

NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512

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 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

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

NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

angiotensin I converting enzyme

susceptibility
no_association

DNA:deletion:intron:IVS16+1464-1751del (human)

PMID:15045629 PMID:15961928

RGD:7829810 RGD:8142349

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

adenosine deaminase 2

ClinVar Annotator: match by term: Behcet's syndrome

PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619

NCBI chr27:44,883,573...44,912,930
Ensembl chr27:44,884,882...44,912,850

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135

G

B9 domain containing 2

DNA:polymorphism:promoter:exon (human)

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

catalase

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

PMID:12074830 PMID:17206395

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

C-C motif chemokine ligand 2

susceptibility

DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)

PMID:12712358 PMID:19782713

RGD:8548882 RGD:8549488

NCBI chr 9:39,008,187...39,009,932

G

chemokine (C-C motif) receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958

G

C-C motif chemokine receptor 5

no_association

protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)

PMID:15009175 PMID:15501397 PMID:17067435

RGD:4892106 RGD:8551814 RGD:8551827

NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952

G

CD40 ligand

protein:increased expression:plasma

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869

G

complement factor B

NCBI chr12:1,400,143...1,406,267

G

carboxypeptidase B2

NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

cytotoxic T-lymphocyte associated protein 4

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

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

cytochrome P450 family 1 subfamily A member 1

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

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

7-dehydrocholesterol reductase

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

NCBI chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236

G

major histocompatibility complex, class II, DM beta

no_association

NCBI chr12:2,503,325...2,508,380
Ensembl chr12:2,503,325...2,533,990

G

major histocompatibility complex, class II, DQ beta 1

susceptibility

DNA:polymorphisms:cds:multiple (human)

NCBI chr12:2,305,307...2,307,711

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphism: :DRB1*0802(human)

NCBI chr12:2,151,409...2,164,564

G

MHC class I DLA-88

disease_progression

DNA:polymorphism:cds:HLA-B*15 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*51 (human, Turkish)
DNA:polymorphism:cds:HLA-B*51 (human)

PMID:11426025 PMID:12622781 PMID:16101830 PMID:20622878 PMID:23396137

RGD:7364873 RGD:7364918 RGD:7364939

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634

G

coagulation factor V

no_association

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

NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

intercellular adhesion molecule 1

susceptibility
no_association

DNA:polymorphism: :p.K469E (human)
DNA:SNP:exon:p.R241G (human)
CTD Direct Evidence: marker/mechanism

PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331

RGD:8158115 RGD:8158123 RGD:8547575

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interferon gamma

associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:

PMID:2154346 PMID:21334264

RGD:8142356 RGD:8142377

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

NCBI chr X:122,232,052...122,253,499
Ensembl chr X:122,235,878...122,250,562

G

interleukin 10

susceptibility
treatment
disease_progression
onset

DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, serum

PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 More...

RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 17A

protein:increased expression:plasma (human)

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 18

no_association
susceptibility

DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)

PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063

RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr10:40,614,336...40,653,300
Ensembl chr10:40,615,312...40,653,454

G

interleukin 1 beta

protein:increased expression:serum

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

protein:increased expression:serum

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 2

DNA:polymorphism:promoter (human)

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 21 receptor

NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931

G

interleukin 23 receptor

susceptibility

DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);

PMID:20375120 PMID:22483685

RGD:8549550 RGD:8549565

NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474

G

interleukin 4

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

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

protein:increased secretion:monocyte:

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interferon regulatory factor 8

susceptibility

DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)
protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)
DNA:Hypermethylation

PMID:26794091 PMID:28592884 PMID:28881647

RGD:329902077 RGD:329902079 RGD:329955373

NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179

G

integrin subunit alpha 2

susceptibility

NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,605,611...17,645,134
Ensembl chr 6:17,605,760...17,644,986

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018

G

NKG2-A/NKG2-B type II integral membrane protein-like

CTD Direct Evidence: marker/mechanism

NCBI chr27:35,307,892...35,374,397

G

low affinity immunoglobulin gamma Fc region receptor III

susceptibility

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

NCBI chr38:21,054,870...21,060,948

G

mannose binding lectin 1

severity
susceptibility

protein:decreased secretion:serum (human)
DNA:polymorphisms:5' utr, exon:multiple (human)

PMID:15693089 PMID:15730518

RGD:1582154 RGD:1582155

NCBI chr 4:29,419,886...29,424,377

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737

G

microRNA mir-155

miRNA:increased expression:peripheral blood mononuclear cell

PMID:27156371 PMID:30366049

RGD:21409751 RGD:25671481

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

matrix metallopeptidase 2

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

PMID:17949555 PMID:22116092

RGD:8547820 RGD:8657044

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

nucleotide binding oligomerization domain containing 2

no_association
susceptibility

DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar Annotator: match by term: Behcet disease
DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)

PMID:15515785 PMID:19748964 PMID:28492532

RGD:13204711 RGD:8158059

NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232

G

nitric oxide synthase 3

no_association
susceptibility

DNA:snp:cds:p.E298D
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)

PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880

RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

paraoxonase 1

protein:decreased activity:serum (human)

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

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 chr30:39,270,852...39,309,507
Ensembl chr30:39,270,919...39,308,108

G

protein tyrosine phosphatase non-receptor type 22

no_association

DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)

PMID:17660222 PMID:22396730

RGD:6484733 RGD:7829745

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

serpin family E member 1

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

PMID:12074830 PMID:18341631

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

superoxide dismutase 1

protein:increased activity:serum (human)

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

signal transducer and activator of transcription 3

no_association

DNA:SNP: :rs744166, rs2293152 (human)
DNA:SNP: :rs2293152 (human)

PMID:22205606 PMID:23127549

RGD:6483021 RGD:8694309

NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672

G

signal transducer and activator of transcription 4

DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs7574865 (human)

PMID:20438790 PMID:23001997 PMID:23291587

RGD:8661713 RGD:8661718

NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894

G

toll like receptor 2

no_association
susceptibility

mRNA:increased expression:intestine:
protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)

PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044

RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247

G

toll like receptor 4

susceptibility
no_association

DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
mRNA:increased expression:mononulcear cell:

PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535

RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

tumor necrosis factor

no_association

protein:increased expression:serum
DNA:SNP:promoter
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
DNA:SNP:promoter:-308G>A (human)

PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 More...

RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

G

vitamin D receptor

no_association

DNA:SNP: :rs1544410 (human)
DNA:SNP:exon:rs2228570 (human)

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

G

vascular endothelial growth factor A

protein:increased expression:serum

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

vimentin

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

G

von Willebrand factor

NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142

Bell's palsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidylprolyl isomerase A (cyclophilin A) pseudogene

exacerbates

protein:increased expression:blood serum (human)

NCBI chr 7:80,937,433...80,938,175

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 chr27:1,315,532...1,323,470
Ensembl chr27:1,273,131...1,323,370

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:110,361,354...110,363,458
Ensembl chr X:110,362,124...110,363,458

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283

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 chain

treatment

associated with Multiple Myeloma

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

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 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

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 chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216

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 chr 7:58,046,563...58,077,926
Ensembl chr 7:57,982,825...58,077,926

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

PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More...

NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090

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 chr20:43,454,025...43,532,361
Ensembl chr20:43,359,206...43,532,219

Burnett Schwartz Berberian Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 1

ClinVar Annotator: match by term: Keratosis pilaris

PMID:25741868 PMID:26142438 PMID:28381441

NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271

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 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007

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 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007

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 chr12:12,626,482...12,630,058

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 chr19:45,022,450...45,150,977
Ensembl chr19:45,022,072...45,149,339

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 chr22:45,384,119...45,400,128
Ensembl chr22:45,384,412...45,400,314

CATIFA Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Catifa syndrome

PMID:25741868 PMID:27878435 PMID:31932796

NCBI chr 1:93,735,158...93,843,331
Ensembl chr 1:93,735,077...93,841,401

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 chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653

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 subunit

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

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

NCBI chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263

cerebral cavernous malformation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More...

NCBI chr16:10,347,801...10,392,560
Ensembl chr16:10,347,145...10,394,594

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr16:10,393,993...10,394,424

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:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More...

RGD:401827114 RGD:401827115

NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445

G

serpin family I member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation 3

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

NCBI chr34:32,553,876...32,624,708
Ensembl chr34:32,553,902...32,624,526

cerebrocostomandibular syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

small nuclear ribonucleoprotein polypeptides B and B1

ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA

PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More...

NCBI chr24:18,673,975...18,683,315
Ensembl chr24:18,674,039...18,683,229

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 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr X:108,285,208...108,285,423

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,635,953...91,658,084
Ensembl chr 3:91,638,515...91,656,737

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,544,350...91,554,494
Ensembl chr 3:91,544,219...91,554,565

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,543,738...61,674,729
Ensembl chr 3:61,544,354...61,644,322

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,410,101...62,441,189
Ensembl chr 3:62,424,613...62,447,948

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,499,088...91,508,982

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,575,537...91,630,715
Ensembl chr 3:91,574,751...91,630,663

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,233,066...61,331,094
Ensembl chr 3:61,079,904...61,330,290

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,946,289...61,961,589
Ensembl chr 3:61,946,838...61,960,473

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:60,906,839...60,916,879
Ensembl chr 3:60,906,844...60,915,280

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,076,934...61,221,462
Ensembl chr 3:61,079,904...61,330,290

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,679,084...62,718,154
Ensembl chr 3:62,682,538...62,718,071

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,352,047...61,357,393
Ensembl chr 3:61,352,109...61,355,997

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,058,993...61,076,816
Ensembl chr 3:61,064,335...61,075,072

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,927,722...61,941,780
Ensembl chr 3:61,927,816...61,938,638

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,738,518...91,743,619
Ensembl chr 3:91,738,523...91,744,297

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,107,060...62,113,807
Ensembl chr 3:62,108,003...62,113,737

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,147,948...62,164,039
Ensembl chr 3:62,147,948...62,164,112

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,119,568...62,121,981

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,634,654...62,638,111
Ensembl chr 3:62,634,783...62,638,111

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,330,987...61,350,596
Ensembl chr 3:61,330,981...61,350,596

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,673,424...91,708,751
Ensembl chr 3:91,676,496...91,708,754

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372

G

phosphatidylinositol glycan anchor biosynthesis class G

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,811,681...91,849,530
Ensembl chr 3:91,812,875...91,849,446

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,946,295...62,104,112
Ensembl chr 3:61,962,193...62,102,264

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:60,917,033...61,011,812
Ensembl chr 3:60,917,072...61,009,131

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,453,856...91,483,674
Ensembl chr 3:91,453,367...91,474,547

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,721,752...61,759,797
Ensembl chr 3:61,723,124...61,759,730

G

SH3 domain binding protein 2

ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw

PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More...

NCBI chr 3:61,454,945...61,488,951
Ensembl chr 3:61,358,162...61,474,830

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,386,982...62,401,541
Ensembl chr 3:62,386,977...62,400,891

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,732,589...91,738,161
Ensembl chr 3:91,731,437...91,737,753

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,411,245...91,421,245

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,381,240...62,386,381
Ensembl chr 3:62,381,411...62,385,349

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:91,554,001...91,576,845
Ensembl chr 3:91,553,778...91,670,930

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,511,676...61,535,480

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:62,647,992...62,674,830
Ensembl chr 3:62,649,207...62,674,884

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 3:61,786,160...61,919,668
Ensembl chr 3:61,805,284...61,918,602

Chronic Periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMP/retinoic acid inducible neural specific 3

susceptibility

DNA:SNP: :rs1935881(human)

NCBI chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482

G

C-C motif chemokine ligand 2

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine ligand 7

disease_progression

protein:increased expression:gingival crevicular fluid, gingvia

NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483

G

C-C motif chemokine receptor 2

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

C-X-C motif chemokine ligand 12

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

PMID:20731768 PMID:21382035

NCBI chr28:2,895,916...2,903,543

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

DAB2 interacting protein

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

NCBI chr 9:60,725,887...60,918,242
Ensembl chr 9:60,726,809...60,918,139

G

desmocollin 1

mRNA:decreased expression:gingival tissues

NCBI chr 7:58,322,959...58,350,092
Ensembl chr 7:58,322,959...58,457,978

G

desmoglein 1

mRNA:decreased expression:gingival tissues

NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708

G

estrogen receptor 1

no_association

DNA:polymorphism

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

interleukin 10

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

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 1 receptor like 1

mRNA:increased expression:gingiva

NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357

G

interleukin 33

mRNA, protein:increased expression:gingiva

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues

NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

NCBI chr 4:6,117,406...6,139,390
Ensembl chr 4:6,118,373...6,122,093

G

microRNA mir-155

treatment

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

matrix metallopeptidase 1

severity
no_association

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

PMID:12622858 PMID:15312099 PMID:22401717

RGD:7206856 RGD:7207045 RGD:7207046

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

G

matrix metallopeptidase 2

treatment

mRNA:increased expression:gingival tissues
associated with Atherosclerosis

PMID:21382035 PMID:24820783

RGD:13207324 RGD:6480655

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

nestin

mRNA:decreased expression:gingival tissues

NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues

NCBI chr10:27,295,597...27,311,864
Ensembl chr10:27,295,640...27,311,397

G

receptor interacting serine/threonine kinase 3

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

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

toll like receptor 2

severity

protein:increased expression:gingiva:

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 3

severity

protein:increased expression:gingiva:

NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247

G

toll like receptor 4

severity

protein:increased expression:gingiva:

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

toll like receptor 9

severity

protein:increased expression:gingiva:

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

cleft lip

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253

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 chr27:10,492,587...10,655,681
Ensembl chr27:10,492,301...10,675,655

G

Rho GTPase activating protein 29

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

NCBI chr 6:54,964,666...55,027,471
Ensembl chr 6:54,959,542...55,024,104

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960

G

bone morphogenetic protein 4

susceptibility

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

PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More...

RGD:13442495 RGD:13442497

NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557

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:15831593 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 More...

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

G

catenin delta 1

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

PMID:25741868 PMID:29805042

NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216

G

epithelial splicing regulatory protein 2

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

NCBI chr 5:81,287,330...81,297,533
Ensembl chr 5:81,287,425...81,295,353

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550

G

fibroblast growth factor receptor 1

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

PMID:17963255 PMID:24613087

NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896

G

growth differentiation factor 6

NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174

G

interferon regulatory factor 6

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

PMID:25741868 PMID:28492532

NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661

G

kinesin family member 7

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

NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

no_association
susceptibility

DNA:SNP:cds:1958G>A(human)

PMID:18261183 PMID:25129243

RGD:12910961 RGD:12910962

NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453

G

methylenetetrahydrofolate reductase

susceptibility

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

PMID:16470725 PMID:27387868

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:57,480,935...57,514,836

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

nectin cell adhesion molecule 1

cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X

NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060

G

noggin

susceptibility

DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)

PMID:25339627 PMID:25704602

RGD:11251786 RGD:12801482

NCBI chr 9:31,453,604...31,456,060

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

netrin 1

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

NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899

G

pleckstrin homology domain containing A5

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

NCBI chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987

G

pleckstrin homology domain containing A7

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

NCBI chr21:39,426,313...39,564,683
Ensembl chr21:39,427,401...39,645,585

G

protein O-mannosyltransferase 1

associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon

NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662

G

syndecan 2

NCBI chr29:40,939,498...41,026,694
Ensembl chr29:40,939,257...41,024,357

G

solute carrier family 19 member 1

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A (human)

PMID:18797703 PMID:21254359

NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878

G

small ubiquitin like modifier 1

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

NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832

G

tumor protein p63

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

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747

CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronidase 2

ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

NCBI chr20:39,029,426...39,034,451
Ensembl chr20:39,031,735...39,034,130

Cleft Lip with or without Cleft Palate, Nonsyndromic, 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8

PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More...

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

cleft lip-palate-ectodermal dysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome

PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More...

NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060

cleft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC membrane recruitment protein 1

ClinVar Annotator: match by term: Cleft palate

NCBI chr X:49,426,228...49,449,448

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960

G