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 (1310)

Stomatognathic Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533

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 chr15:138,228,640...138,276,341
Ensembl chr15:138,228,807...138,229,289

Abruzzo-Erickson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

T-box transcription factor 22

ClinVar Annotator: match by term: Abruzzo-Erickson syndrome

PMID:839509 PMID:22784330 PMID:25741868

NCBI chr X:63,837,576...63,845,704
Ensembl chr X:63,837,284...63,846,483

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

NCBI chr 5:18,526,070...18,537,835
Ensembl chr 5:18,526,076...18,537,830

G

lamin A/C

OMIM:200400

NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320

G

nitric oxide synthase 1

OMIM:200400

NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,159,156

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

NCBI chr13:26,036,610...26,073,168
Ensembl chr13:26,036,629...26,075,691

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

adenoid cystic carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1 (Colton blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 5:76,637,385...76,800,155
Ensembl chr 5:76,636,967...76,797,043

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chr14:55,924,333...56,082,209
Ensembl chr14:55,924,367...56,082,198

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr14:65,408,603...65,598,485
Ensembl chr14:65,408,598...65,598,485

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552

G

ATR serine/threonine kinase

treatment

NCBI chr13:83,175,515...83,289,986
Ensembl chr13:83,174,824...83,289,989

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287

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 chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382

G

BCL6 corepressor

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr X:35,768,013...35,891,013
Ensembl chr X:35,768,017...35,814,833

G

BCL6 corepressor like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:106,547,754...106,613,130
Ensembl chr X:106,549,139...106,612,894

G

BRCA1 DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:774,307...808,016
Ensembl chr 5:770,654...808,006

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:14,325,869...14,334,043
Ensembl chr 6:14,323,981...14,334,008

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chr13:57,754,233...58,014,830
Ensembl chr13:57,719,846...58,014,970

G

CREB binding protein

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 9:131,225,840...131,275,426
Ensembl chr 9:131,227,705...131,275,451

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:12,197,943...12,237,884
Ensembl chr 2:12,199,231...12,237,615

G

EF-hand domain family member D1

CTD Direct Evidence: marker/mechanism

NCBI chr15:133,120,092...133,169,430
Ensembl chr15:133,120,093...133,169,428

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:24,402,605...24,408,377
Ensembl chr15:24,402,370...24,407,692

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:44,415,106...44,533,353
Ensembl chr16:44,415,189...44,533,349

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:18,486,969...18,509,913
Ensembl chr 5:18,487,052...18,509,913

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Adenocystic carcinoma

NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chr X:61,551,487...61,561,807
Ensembl chr X:61,552,460...61,561,954

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chr18:31,335,102...31,890,523
Ensembl chr18:31,335,264...31,888,845

G

growth arrest specific 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:36,712,758...36,885,436
Ensembl chr 2:36,711,612...36,885,620

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

NCBI chr11:78,848,797...78,880,733
Ensembl chr11:78,848,797...78,881,284

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:3,218,655...3,252,740
Ensembl chr 6:3,218,702...3,243,899

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,448,758...44,520,737
Ensembl chr 8:44,449,290...44,518,135

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:58,913,949...58,922,474
Ensembl chr 2:58,913,992...58,922,474

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

insulin like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:118,822,092...118,850,985
Ensembl chr15:118,822,047...118,850,976

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690

G

insulin receptor related receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:93,239,678...93,258,075
Ensembl chr 4:93,239,969...93,258,075

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:78,940,033...78,944,855
Ensembl chr16:78,937,566...78,945,269

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,363,672...59,367,003
Ensembl chr 2:59,363,716...59,367,002

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr14:66,640,845...66,966,911
Ensembl chr14:66,640,849...66,920,324

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:16,901,611...17,096,912
Ensembl chr12:16,903,450...17,096,916

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr17:11,002,818...11,109,974

G

lysine demethylase 6A

exacerbates

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

PMID:23685749 PMID:31483290

RGD:150429732 RGD:150429736

NCBI chr X:39,953,764...40,154,197
Ensembl chr X:39,953,814...40,154,029

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr12:53,087,072...53,108,949
Ensembl chr12:53,098,964...53,108,214

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:31483290

NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

keratin 15

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,124,605...21,130,247
Ensembl chr12:21,124,705...21,130,241

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:46,896,515...47,568,140
Ensembl chr13:46,897,903...47,567,717

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:100,846,693...102,171,199
Ensembl chr 9:100,847,013...102,170,004

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:86,879,353...87,323,123
Ensembl chr 8:86,879,363...87,323,123

G

mitogen-activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,789,796...79,795,895
Ensembl chr 1:79,789,815...79,795,760

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:8,153,870...8,216,141
Ensembl chr 2:8,155,348...8,215,959

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,795...129,697,408

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:77,912,766...77,938,855
Ensembl chr 2:77,912,761...77,938,855

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:571,921...593,531
Ensembl chr 5:571,963...591,822

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:48,050,050...48,075,799
Ensembl chr 7:48,050,045...48,075,795

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:68,120,078...68,159,513
Ensembl chr 4:68,119,865...68,159,509

G

MYC binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:94,805,649...94,814,443
Ensembl chr 6:94,805,640...94,814,337

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:37,443,534...37,506,589
Ensembl chr 6:37,443,699...37,505,736

G

nuclear factor I B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:208,182,397...208,427,504
Ensembl chr 1:208,175,194...208,421,602

G

notch receptor 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059

G

neurotrophic receptor tyrosine kinase 3

treatment

NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,947,688...42,952,222
Ensembl chr X:42,947,692...42,949,024

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:99,625,085...99,657,170
Ensembl chr 4:99,625,080...99,657,161

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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,375...79,846,656

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr14:99,929,590...100,021,619

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

NCBI chr17:30,940,457...30,995,688
Ensembl chr17:30,940,452...30,995,691

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:11,633,523...11,905,325
Ensembl chr 5:11,633,541...11,903,094

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:27,270,232...27,780,535
Ensembl chr17:27,270,093...27,780,526

G

solute carrier family 3 member 2

disease_progression

NCBI chr 2:8,892,071...8,919,070
Ensembl chr 2:8,892,089...8,919,072

G

solute carrier family 7 member 5

disease_progression

NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285

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 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421

G

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

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,786,897...21,807,162

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chr X:46,143,738...46,202,187
Ensembl chr X:46,144,920...46,218,543

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr13:197,162,075...197,193,417
Ensembl chr13:197,162,116...197,194,078

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,854...129,800,197

G

SRY-box transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:16,886,834...16,895,488
Ensembl chr 7:16,891,319...16,892,752

G

Snf2 related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:17,662,374...17,702,862
Ensembl chr 3:17,664,349...17,700,219

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 9:53,442,795...53,491,847
Ensembl chr 9:53,445,591...53,486,010

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

tousled like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:77,169,661...77,329,548
Ensembl chr15:77,170,086...77,329,402

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450

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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

ubiquitin like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:73,898,061...73,937,727
Ensembl chr 2:73,898,071...73,931,769

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr 2:91,682,177...91,811,674
Ensembl chr 2:91,384,391...91,811,208

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:68,627,158...68,731,938
Ensembl chr 5:68,627,185...68,732,265

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

NCBI chr17:29,107,641...29,193,500
Ensembl chr17:29,107,667...29,193,479

G

zinc finger imprinted 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:61,157,781...61,193,706

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 chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328

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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068

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 chr10:2,963,237...3,367,629
Ensembl chr10:2,963,527...3,367,623

G

chemokine (C-C motif) ligand 2

susceptibility

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

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

C-C motif chemokine receptor 2

susceptibility

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

NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343

G

collagen type I alpha 1 chain

DNA:SNP

NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004

G

C-reactive protein, pentraxin-related

protein:increased expression:serum:

NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218

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 chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,036...21,761,516

G

interleukin 10

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

PMID:28662328 PMID:28868949

RGD:14975139 RGD:14975264

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

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 chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334

G

interleukin 2

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 6

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

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

periostin

OMIM:170650 | OMIM:608526

NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

NCBI chr18:50,563,130...50,566,857

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 chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481

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 4:80,427,682...80,502,689
Ensembl chr 4:80,427,687...80,501,646

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chr13:206,936,311...207,013,112
Ensembl chr13:206,936,333...207,013,102

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 chr15:120,339,765...120,345,451
Ensembl chr15:120,339,768...120,345,311

G

ATP binding cassette subfamily B member 6

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

NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chr15:121,265,693...121,273,813
Ensembl chr15:121,265,740...121,273,814

G

actin related protein 2/3 complex subunit 2

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

NCBI chr15:120,297,122...120,328,795
Ensembl chr15:120,297,025...120,328,542

G

acid sensing ion channel subunit family member 4

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

NCBI chr15:121,520,003...121,547,520
Ensembl chr15:121,522,550...121,547,497

G

autophagy related 9A

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

NCBI chr15:121,254,355...121,265,564
Ensembl chr15:121,254,355...121,265,569

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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

NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chr15:120,419,473...120,425,441
Ensembl chr15:120,419,473...120,425,439

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chr15:120,985,069...120,990,864
Ensembl chr15:120,985,257...120,986,354

G

cilia and flagella associated protein 65

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

NCBI chr15:121,026,365...121,067,224
Ensembl chr15:121,026,245...121,062,738

G

chondroitin polymerizing factor

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

NCBI chr15:121,547,666...121,553,590
Ensembl chr15:121,544,230...121,553,288

G

CCR4-NOT transcription complex subunit 9

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

NCBI chr15:120,590,354...120,622,203
Ensembl chr15:120,590,641...120,623,898

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chr15:121,207,139...121,212,888
Ensembl chr15:121,207,142...121,212,766

G

crystallin beta A2

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

NCBI chr15:121,013,611...121,016,869
Ensembl chr15:121,013,626...121,020,454

G

CTD small phosphatase 1

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

NCBI chr15:120,450,649...120,456,874
Ensembl chr15:120,450,760...120,456,871

G

C-X-C motif chemokine receptor 2

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

NCBI chr15:120,219,657...120,230,203

G

cytochrome P450 family 27 subfamily A member 1

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

NCBI chr15:120,809,886...120,852,196
Ensembl chr15:120,809,959...120,852,192

G

desmin

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

NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991

G

aspartyl aminopeptidase

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

NCBI chr15:121,391,746...121,404,138
Ensembl chr15:121,391,746...121,412,864

G

FEV transcription factor, ETS family member

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

NCBI chr15:121,005,279...121,008,748
Ensembl chr15:121,004,665...121,009,014

G

galactosidase beta 1 like

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

NCBI chr15:121,271,844...121,285,091
Ensembl chr15:121,271,848...121,285,091

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 chr15:121,507,560...121,515,299
Ensembl chr15:121,507,564...121,515,300

G

G protein-coupled bile acid receptor 1

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

NCBI chr15:120,336,196...120,339,506
Ensembl chr15:120,336,488...120,339,505

G

Indian hedgehog signaling molecule

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

NCBI chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121

G

non-homologous end joining factor 1

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

NCBI chr15:121,100,624...121,190,086
Ensembl chr15:121,100,628...121,194,042

G

obscurin like cytoskeletal adaptor 1

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

NCBI chr15:121,560,009...121,581,314
Ensembl chr15:121,560,008...121,581,188

G

phospholipase C delta 4

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

NCBI chr15:120,660,549...120,695,731
Ensembl chr15:120,626,938...120,688,112

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chr15:120,345,541...120,411,648
Ensembl chr15:120,387,113...120,410,476

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chr15:120,859,486...120,866,308
Ensembl chr15:120,855,201...120,866,332

G

protein tyrosine phosphatase receptor type N

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

NCBI chr15:121,329,284...121,349,228
Ensembl chr15:121,329,287...121,349,168

G

regulated endocrine specific protein 18

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

NCBI chr15:121,364,165...121,371,430

G

reticulophagy regulator family member 2

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

NCBI chr15:121,212,370...121,218,796
Ensembl chr15:121,212,881...121,218,812

G

ring finger protein 25

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

NCBI chr15:120,712,242...120,719,773
Ensembl chr15:120,712,246...120,719,773

G

solute carrier family 11 member 1

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

NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396

G

solute carrier family 23 member 3

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

NCBI chr15:121,105,800...121,203,990
Ensembl chr15:121,193,947...121,203,990

G

striated muscle enriched protein kinase

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

NCBI chr15:121,443,976...121,501,453

G

serine/threonine kinase 16

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

NCBI chr15:121,285,065...121,288,475
Ensembl chr15:121,284,920...121,288,473

G

serine/threonine kinase 36

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

NCBI chr15:120,719,635...120,747,832
Ensembl chr15:120,719,646...120,754,065

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chr15:120,348,740...120,365,055
Ensembl chr15:120,348,735...120,365,007

G

transmembrane protein 198

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

NCBI chr15:121,553,686...121,559,860
Ensembl chr15:121,553,694...121,559,869

G

tubulin tyrosine ligase like 4

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

NCBI chr15:120,748,537...120,791,825
Ensembl chr15:120,773,185...120,793,194

G

tubulin alpha 4a

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

NCBI chr15:121,290,149...121,294,048
Ensembl chr15:121,288,957...121,294,853

G

ubiquitin specific peptidase 37

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

NCBI chr15:120,492,552...120,590,230
Ensembl chr15:120,493,739...120,590,216

G

villin 1

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

NCBI chr15:120,463,470...120,494,772
Ensembl chr15:120,463,566...120,492,580

G

Wnt family member 10A

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

NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430

G

Wnt family member 6

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

NCBI chr15:120,901,471...120,917,359
Ensembl chr15:120,901,376...120,917,486

G

zinc finger AN1-type containing 2B

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

NCBI chr15:121,243,116...121,246,075
Ensembl chr15:121,243,116...121,246,068

G

zinc finger protein 142

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

NCBI chr15:120,688,836...120,707,743

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:12,099,849...12,152,204
Ensembl chr X:12,093,242...12,151,286

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

NCBI chr 2:70,206,159...70,209,855
Ensembl chr 2:70,206,162...70,208,229

G

angiotensin II receptor type 1

treatment

associated with periodontal disease

NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105

G

angiotensin II receptor type 2

treatment

associated with hypertension, periodontal disease

NCBI chr X:95,267,709...95,272,237
Ensembl chr X:95,269,300...95,270,388

G

alkaline phosphatase, biomineralization associated

treatment

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

PMID:20630305 PMID:33364953

NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,589,045...79,649,644

G

C-C motif chemokine receptor 2

associated with Periodontitis;

NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343

G

cathepsin K

treatment

associated with hypertension, periodontal disease

NCBI chr 4:98,389,459...98,404,969
Ensembl chr 4:98,391,428...98,404,961

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 6

treatment

associated with periodontal disease

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

integrin subunit alpha V

treatment

associated with periodontal disease

NCBI chr15:91,604,666...91,711,843
Ensembl chr15:91,604,676...91,711,851

G

interleukin-1 beta-like

treatment

associated with periodontal disease

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

osteoclast associated Ig-like receptor

treatment

associated with hypertension, periodontal disease

NCBI chr 6:56,021,434...56,029,398
Ensembl chr 6:56,022,256...56,030,646

G

poly(ADP-ribose) polymerase 1

NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196

G

peroxisome proliferator activated receptor gamma

treatment

associated with hypertension, periodontal disease

NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

TNF receptor superfamily member 11a

treatment

associated with periodontal disease

NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481

G

TNF receptor superfamily member 11b

treatment

associated with periodontal disease

NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

PMID:19249596 PMID:33364953

NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477

G

vitronectin

treatment

associated with periodontal disease

NCBI chr12:44,650,532...44,653,916
Ensembl chr12:44,650,534...44,655,355

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 6:55,535,406...55,541,929
Ensembl chr 6:55,536,904...55,541,968

G

amelogenin X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:8,055,246...8,063,457
Ensembl chr X:8,055,782...8,063,449

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:7,910,851...8,441,579
Ensembl chr X:7,910,858...8,120,386

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,925,091...206,372,121

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 3:16,812,409...16,819,130
Ensembl chr 3:16,812,404...16,819,124

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chr13:31,262,750...31,295,112

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157

G

enamelin

ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia

PMID:25741868 PMID:28492532

NCBI chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086

G

FAM20C golgi associated secretory pathway kinase

Dental hypomineralization
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)

PMID:22732358 PMID:25928877 PMID:27187611 PMID:27803843

RGD:11560487 RGD:11560491

NCBI chr 3:159,107...200,462
Ensembl chr 3:163,421...200,459

G

family with sequence similarity 83 member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246

G

kallikrein related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952

G

RELT TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949

G

Sp6 transcription factor

NCBI chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286

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 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047

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 chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286

amelogenesis imperfecta hypomaturation type 2A4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

odontogenesis associated phosphoprotein

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

PMID:22901946 PMID:25741868

NCBI chr 8:71,215,091...71,225,787
Ensembl chr 8:71,215,152...71,226,319

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 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949

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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783

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 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197

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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157

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 chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086

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 chr 8:67,416,482...67,431,196
Ensembl chr 8:67,416,469...67,433,086

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286

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:8,055,246...8,063,457
Ensembl chr X:8,055,782...8,063,449

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:7,910,851...8,441,579
Ensembl chr X:7,910,858...8,120,386

amelogenesis imperfecta type 1F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ameloblastin

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

PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532

NCBI chr 8:67,381,137...67,394,394
Ensembl chr 8:67,381,137...67,394,394

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 chr12:11,606,469...11,663,086
Ensembl chr12:11,607,034...11,657,737

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 chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373

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 chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234

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 6:55,535,406...55,541,929
Ensembl chr 6:55,536,904...55,541,968

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 chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792

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 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294

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 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246

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 chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517

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 chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chr 8:67,312,108...67,327,775
Ensembl chr 8:67,312,972...67,326,730

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 chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496

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 chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157

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 chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015

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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068

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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068

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 chr 5:35,463,257...35,595,234
Ensembl chr 5:35,463,279...35,595,930

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr15:121,560,009...121,581,314
Ensembl chr15:121,560,008...121,581,188

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458

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 chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

NCBI chr14:97,487,854...97,490,118
Ensembl chr14:97,487,226...97,490,288

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:55,770,958...56,103,296
Ensembl chr X:55,771,041...56,103,265

G

ectodysplasin A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,514,808

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 chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784

G

keratinocyte differentiation factor 1

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

NCBI chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041

G

E3 SUMO-protein ligase RanBP2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

msh homeobox 1

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

NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607

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 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625

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 3:16,161,524...16,168,619
Ensembl chr 3:16,161,580...16,169,453

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 chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298

aphthous stomatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeostatic iron regulator

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

NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526

G

interleukin 10

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

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

methylenetetrahydrofolate reductase

severity

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

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

transforming growth factor beta 1

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

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

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 chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509

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 chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105

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:61,972,544...62,110,058
Ensembl chr X:61,972,991...62,110,048

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

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 chr10:30,975,639...30,987,955
Ensembl chr10:30,975,702...30,987,956

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,063,644...36,383,800

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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654

AURONEURODENTAL SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronidase 1

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700

G

hyaluronidase 3

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563

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 chr14:4,289,257...4,318,587
Ensembl chr14:4,289,339...4,318,584

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 chr16:4,095,582...4,271,073
Ensembl chr16:4,105,165...4,271,170

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 chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,093,198

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 chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761

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 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156

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 chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430

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 chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,296

Axenfeld-Rieger syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha kinase 1

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

NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,227...110,367,912

G

ankyrin 2

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

NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

family with sequence similarity 241 member A

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

NCBI chr 8:110,468,450...110,504,828
Ensembl chr 8:110,468,757...110,504,912

G

high mobility group nucleosomal binding domain 2

OMIM:180500

NCBI chr 6:83,857,114...83,861,907
Ensembl chr 6:83,858,177...83,861,905

G

La ribonucleoprotein 7, transcriptional regulator

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

NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708

G

neurogenin 2

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

NCBI chr 8:110,200,681...110,206,081
Ensembl chr 8:110,201,161...110,201,979

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 chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298

G

PR/SET domain 5

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

NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094

G

TRAF interacting protein with forkhead associated domain

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

NCBI chr 8:110,377,817...110,394,190
Ensembl chr 8:110,377,892...110,389,604

G

zinc finger GRF-type containing 1

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

NCBI chr 8:110,089,920...110,168,086
Ensembl chr 8:110,090,001...110,168,081

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 chr13:104,946,732...105,007,568

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

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

NCBI chr 1:239,727,769...239,732,461
Ensembl chr 1:239,727,855...239,728,976

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 chr15:138,228,640...138,276,341
Ensembl chr15:138,228,807...138,229,289

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 chr13:205,127,239...205,153,000
Ensembl chr13:205,127,244...205,153,005

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 chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868

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 6:54,834,303...54,849,539
Ensembl chr 6:54,834,316...54,852,821

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B (MDR/TAP), member 1

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

NCBI chr 9:93,049,955...93,146,469

G

angiotensin I converting enzyme (peptidyl-dipeptidase A) 1

no_association
susceptibility

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

PMID:15045629 PMID:15961928

RGD:7829810 RGD:8142349

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

adenosine deaminase 2

ClinVar Annotator: match by term: Behcet's syndrome

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

NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200

G

catalase

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

PMID:12074830 PMID:17206395

NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452

G

chemokine (C-C motif) ligand 2

susceptibility

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

PMID:12712358 PMID:19782713

RGD:8548882 RGD:8549488

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960

G

C-C motif chemokine receptor 5

no_association

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

PMID:15009175 PMID:15501397 PMID:17067435

RGD:4892106 RGD:8551814 RGD:8551827

NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895

G

CD40 ligand

protein:increased expression:plasma

NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

complement factor B

NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179

G

carboxypeptidase B2

NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,241

G

C-reactive protein, pentraxin-related

protein:increased expression:plasma,erythrocyte:

NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218

G

cytotoxic T-lymphocyte associated protein 4

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

NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

cytochrome P450 family 1 subfamily A member 1

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

NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775

G

7-dehydrocholesterol reductase

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

NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,447

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759

G

coagulation factor V

no_association

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

NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

Fc fragment of IgG receptor IIIa

susceptibility

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

NCBI chr 4:88,948,357...88,956,513

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

G

intercellular adhesion molecule 1

no_association
susceptibility

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

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

RGD:8158115 RGD:8158123 RGD:8547575

NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205

G

interferon gamma

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

PMID:2154346 PMID:21334264

RGD:8142356 RGD:8142377

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

NCBI chr X:125,035,575...125,056,445
Ensembl chr X:125,036,508...125,056,453

G

interleukin 10

susceptibility
onset
disease_progression
treatment

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 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 17A

protein:increased expression:plasma (human)

NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153

G

interleukin 18

no_association
susceptibility

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

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

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

NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr 3:51,803,383...51,844,758
Ensembl chr 3:51,803,175...51,844,684

G

interleukin 1 receptor antagonist

protein:increased expression:serum

G

interleukin 2

DNA:polymorphism:promoter (human)

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 21 receptor

NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152

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 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510

G

interleukin 4

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

NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365

G

interleukin 6

protein:increased secretion:monocyte:

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

interferon regulatory factor 8

susceptibility

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

PMID:26794091 PMID:28592884 PMID:28881647

RGD:329902077 RGD:329902079 RGD:329955373

NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406

G

integrin subunit alpha 2

susceptibility

NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,012

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107

G

interleukin-1 beta-like

protein:increased expression:serum

G

mannose binding lectin 2

susceptibility
severity

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

PMID:15693089 PMID:15730518

RGD:1582154 RGD:1582155

NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr 3:38,934,573...38,948,609

G

microRNA mir-155

miRNA:increased expression:peripheral blood mononuclear cell

PMID:27156371 PMID:30366049

RGD:21409751 RGD:25671481

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

matrix metallopeptidase 2

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

PMID:17949555 PMID:22116092

RGD:8547820 RGD:8657044

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

nucleotide binding oligomerization domain containing 2

susceptibility
no_association

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

PMID:15515785 PMID:19748964 PMID:28492532

RGD:13204711 RGD:8158059

NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534

G

nitric oxide synthase 3

susceptibility
no_association

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

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

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

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

paraoxonase 1

protein:decreased activity:serum (human)

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

G

proline-serine-threonine phosphatase interacting protein 1

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

PMID:25741868 PMID:28492532

NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751

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 chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099

G

serpin family E member 1

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

PMID:12074830 PMID:18341631

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

SLA-DM alpha chain

no_association

NCBI chr 7:25,133,494...25,137,928
Ensembl chr 7:25,133,497...25,137,966

G

MHC class II, DM beta

no_association

NCBI chr 7:25,119,278...25,125,089
Ensembl chr 7:25,119,282...25,128,236

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396

G

superoxide dismutase 1

protein:increased activity:serum (human)

NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729

G

signal transducer and activator of transcription 3

no_association

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

PMID:22205606 PMID:23127549

RGD:6483021 RGD:8694309

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

signal transducer and activator of transcription 4

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

PMID:20438790 PMID:23001997 PMID:23291587

RGD:8661713 RGD:8661718

NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472

G

transforming growth factor beta 1

DNA:polymorphism:promoter:exon (human)

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

toll like receptor 2

no_association
susceptibility

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

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

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

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

toll like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291

G

toll like receptor 4

susceptibility
no_association

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

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

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

NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970

G

tumor necrosis factor

no_association

DNA:SNP:promoter
DNA:SNP:promoter:-308G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909

G

vitamin D receptor

no_association

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

NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475

G

vascular endothelial growth factor A

protein:increased expression:serum

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

vimentin

NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170

G

von Willebrand factor

NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938

Bell's palsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidylprolyl isomerase A

exacerbates

protein:increased expression:blood serum (human)

NCBI chr18:50,563,130...50,566,857

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 chr 5:19,151,096...19,159,008
Ensembl chr 5:19,151,084...19,158,646

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chr 5:53,760,816...54,016,979
Ensembl chr 5:53,760,824...54,016,886

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:115,017,704...115,020,601
Ensembl chr X:115,019,232...115,020,578

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

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

NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820

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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004

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 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986

blepharocheilodontic syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin delta 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2

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

NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,154,338...13,209,250

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 6:115,352,005...115,383,750
Ensembl chr 6:115,351,925...115,383,743

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 chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438

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 chr13:27,966,586...28,041,121
Ensembl chr13:27,966,586...28,041,451

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 chr 5:22,435,636...22,519,276

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 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727

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 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

uncharacterized LOC110261530

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

NCBI chr 7:39,215,933...39,217,275
Ensembl chr 7:39,216,513...39,216,779

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 chr15:8,847,335...8,982,951
Ensembl chr15:8,850,544...8,982,891

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 chr11:63,695,612...63,716,614
Ensembl chr11:63,695,638...63,716,568

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 1:216,382,179...216,494,815
Ensembl chr 1:216,382,128...216,494,793

Cayler Cardiofacial Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EYA transcriptional coactivator and phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,807...64,328,105

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

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 chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr18:50,385,116...50,394,787

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 chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895

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 chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110

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 chr17:33,072,104...33,094,847
Ensembl chr17:33,080,407...33,094,602

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 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:112,092...113,526
Ensembl chr 8:110,605...113,510

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:197,876...231,721
Ensembl chr 8:197,882...205,371

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:313,325...325,089
Ensembl chr 8:313,329...325,095

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,388,442...1,523,935
Ensembl chr 8:1,388,266...1,523,928

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:777,081...796,383
Ensembl chr 8:776,661...795,695

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:240,818...296,989
Ensembl chr 8:240,822...296,956

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,737,960...1,792,390
Ensembl chr 8:1,738,333...1,792,374

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,187,149...1,198,517
Ensembl chr 8:1,073,889...1,197,086

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:2,077,164...2,084,506
Ensembl chr 8:2,077,176...2,084,507

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,809,768...1,934,002
Ensembl chr 8:1,809,785...1,934,024

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:543,281...568,437
Ensembl chr 8:543,291...568,452

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,710,524...1,715,015
Ensembl chr 8:1,710,530...1,715,760

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,934,960...1,944,754
Ensembl chr 8:1,938,397...1,947,985

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,203,163...1,216,807
Ensembl chr 8:1,203,172...1,216,725

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:115,986...120,297
Ensembl chr 8:116,711...120,301

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,063,917...1,072,191
Ensembl chr 8:1,063,824...1,072,189

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,018,443...1,039,091
Ensembl chr 8:1,018,453...1,039,134

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,055,115...1,058,203
Ensembl chr 8:1,054,236...1,058,200

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:608,327...611,859
Ensembl chr 8:608,098...611,859

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,717,019...1,737,971
Ensembl chr 8:1,716,826...1,737,902

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:140,435...189,796
Ensembl chr 8:140,446...182,261

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:80,378...111,960
Ensembl chr 8:80,378...110,672

G

phosphatidylinositol glycan anchor biosynthesis class G

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:21,437...44,415
Ensembl chr 8:20,646...43,330

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,073,337...1,198,538
Ensembl chr 8:1,073,889...1,197,086

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,971,390...2,074,970
Ensembl chr 8:1,963,308...2,075,971

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:393,707...413,952
Ensembl chr 8:399,715...413,896

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,353,532...1,380,637
Ensembl chr 8:1,353,658...1,380,634

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 8:1,583,169...1,619,038
Ensembl chr 8:1,583,193...1,619,037

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:335,420...345,955
Ensembl chr 8:335,427...342,444

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:120,088...128,420
Ensembl chr 8:120,102...128,425

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:447,176...450,829
Ensembl chr 8:447,180...450,538

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:825,433...835,425
Ensembl chr 8:824,999...837,322

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:802,940...818,161
Ensembl chr 8:802,940...818,216

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:819,762...826,233
Ensembl chr 8:819,764...826,192

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:295,693...313,974
Ensembl chr 8:297,007...313,972

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,530,534...1,554,677
Ensembl chr 8:1,533,429...1,554,683

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:573,299...602,617
Ensembl chr 8:573,426...601,944

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 8:1,225,417...1,312,938
Ensembl chr 8:1,225,429...1,312,521

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 chr10:2,963,237...3,367,629
Ensembl chr10:2,963,527...3,367,623

G

chemokine (C-C motif) ligand 2

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

C-C motif chemokine receptor 2

NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343

G

C-X-C motif chemokine ligand 12

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

PMID:20731768 PMID:21382035

NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,431...91,552,752

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues

NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232

G

DAB2 interacting protein

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

NCBI chr 1:261,732,280...261,859,833
Ensembl chr 1:261,659,785...261,859,830

G

desmocollin 1

mRNA:decreased expression:gingival tissues

NCBI chr 6:115,042,225...115,076,097
Ensembl chr 6:115,039,722...115,076,097

G

desmoglein 1

mRNA:decreased expression:gingival tissues

NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,645

G

estrogen receptor 1

no_association

DNA:polymorphism

NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363

G

interleukin 10

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

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 1 receptor like 1

mRNA:increased expression:gingiva

NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383

G

interleukin 33

mRNA, protein:increased expression:gingiva

NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues

NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

NCBI chr14:57,268,064...57,319,338
Ensembl chr14:57,265,780...57,318,989

G

microRNA mir-155

treatment

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

matrix metallopeptidase 1

no_association
severity

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 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076

G

matrix metallopeptidase 2

treatment

mRNA:increased expression:gingival tissues
associated with Atherosclerosis

PMID:21382035 PMID:24820783

RGD:13207324 RGD:6480655

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

nestin

mRNA:decreased expression:gingival tissues

NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,247...93,421,893

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues

NCBI chr 5:10,553,986...10,571,082
Ensembl chr 5:10,553,433...10,573,014

G

receptor interacting serine/threonine kinase 3

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

NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251

G

toll like receptor 2

severity

protein:increased expression:gingiva:

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

toll like receptor 3

severity

protein:increased expression:gingiva:

NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291

G

toll like receptor 4

severity

protein:increased expression:gingiva:

NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970

G

toll like receptor 9

severity

protein:increased expression:gingiva:

NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475

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 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,333,041

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 chr 5:74,502,098...74,672,703
Ensembl chr 5:74,503,113...74,672,703

G

Rho GTPase activating protein 29

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

NCBI chr 4:123,082,137...123,158,275
Ensembl chr 4:123,085,922...123,158,928

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:87,866,631...87,882,623
Ensembl chr 2:87,866,621...87,882,716

G

bone morphogenetic protein 4

susceptibility

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

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

RGD:13442495 RGD:13442497

NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637

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 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986

G

catenin delta 1

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

PMID:25741868 PMID:29805042

NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,154,338...13,209,250

G

epithelial splicing regulatory protein 2

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

NCBI chr 6:28,804,425...28,814,478
Ensembl chr 6:28,802,651...28,812,963

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,392...144,241,323

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408

G

fibroblast growth factor receptor 1

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

PMID:17963255 PMID:24613087

NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964

G

growth differentiation factor 6

NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,472,935...40,490,033

G

interferon regulatory factor 6

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

PMID:25741868 PMID:28492532

NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628

G

kinesin family member 7

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

NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240

G

5-formyltetrahydrofolate cyclo-ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:48,717,518...48,873,492
Ensembl chr 7:48,717,851...48,873,455

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chr17:43,408,390...43,411,782
Ensembl chr17:43,404,925...43,411,739

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility
no_association

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

PMID:18261183 PMID:25129243

RGD:12910961 RGD:12910962

NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387

G

methylenetetrahydrofolate reductase

susceptibility

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

PMID:16470725 PMID:27387868

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

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 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304

G

noggin

susceptibility

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

PMID:25339627 PMID:25704602

RGD:11251786 RGD:12801482

NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

netrin 1

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

NCBI chr12:54,089,444...54,292,191
Ensembl chr12:54,089,472...54,292,193

G

pleckstrin homology domain containing A5

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

NCBI chr 5:53,760,816...54,016,979
Ensembl chr 5:53,760,824...54,016,886

G

pleckstrin homology domain containing A7

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

NCBI chr 2:42,081,546...42,311,526
Ensembl chr 2:42,081,541...42,311,548

G

protein O-mannosyltransferase 1

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

NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223

G

syndecan 2

NCBI chr 4:40,003,618...40,129,483
Ensembl chr 4:40,001,395...40,129,697

G

solute carrier family 19 member 1

susceptibility

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

PMID:18797703 PMID:21254359

NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,159,156

G

small ubiquitin like modifier 1

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

NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,818,858...105,850,233

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965

G

tumor protein p63

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

NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578

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 chr13:32,805,220...32,813,684
Ensembl chr13:32,805,227...32,815,333

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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068

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 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304

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:50,842,049...50,864,105
Ensembl chr X:50,844,683...50,864,032

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:87,866,631...87,882,623
Ensembl chr 2:87,866,621...87,882,716

G

basonuclin zinc finger protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,925,091...206,372,121

G

calcium/calmodulin dependent serine protein kinase

CTD Direct Evidence: marker/mechanism
DNA:insertion

NCBI chr X:37,166,973...37,535,723
Ensembl chr X:37,167,577...37,536,160

G

core-binding factor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:27,684,320...27,750,856
Ensembl chr 6:27,684,030...27,750,852

G

cell division cycle 42

NCBI chr 6:80,035,034...80,089,243
Ensembl chr 6:80,035,123...80,089,233

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868

G

collagen type XI alpha 2 chain

DNA:SNPs, haplotypes: :rs3129208 (human)
DNA:SNPs, haplotypes: :multiple

PMID:20672350 PMID:22112025

RGD:12436724 RGD:12904711

NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888

G

collagen type II alpha 1 chain

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)

PMID:15562585 PMID:20672350

NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718

G

discs large MAGUK scaffold protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:132,819,931...133,084,880
Ensembl chr13:132,820,870...133,086,841

G

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Cleft palate

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,092...90,768,353

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046

G

fibroblast growth factor 10