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

GViewer not supported for the selected species.

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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 (1265)

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 chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:16,333,363...16,339,853
Ensembl chrNW_004955422:16,333,363...16,339,853

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 chrNW_004955542:1,959,765...2,000,665
Ensembl chrNW_004955542:1,959,765...2,000,665

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 chrNW_004955529:541,057...573,486
Ensembl chrNW_004955529:553,738...573,388

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

NCBI chrNW_004955458:567,487...577,228
Ensembl chrNW_004955458:567,518...577,372

G

lamin A/C

OMIM:200400

NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033

G

nitric oxide synthase 1

OMIM:200400

NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chrNW_004955404:27,349,286...27,353,706
Ensembl chrNW_004955404:27,349,519...27,353,706

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

NCBI chrNW_004955420:28,234,590...28,253,146
Ensembl chrNW_004955420:28,234,153...28,253,168

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

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 chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004955500:4,998,555...5,177,180
Ensembl chrNW_004955500:4,998,555...5,175,776

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955492:4,593,335...4,730,073
Ensembl chrNW_004955492:4,593,335...4,730,073

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955425:15,253,951...15,433,246
Ensembl chrNW_004955425:15,253,211...15,433,934

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955406:33,665,675...33,720,468
Ensembl chrNW_004955406:33,661,322...33,720,259

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545

G

ATR serine/threonine kinase

treatment

NCBI chrNW_004955508:3,337,036...3,440,313
Ensembl chrNW_004955508:3,337,432...3,440,257

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724

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 chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955424:23,233,523...23,330,679
Ensembl chrNW_004955424:23,233,523...23,330,679

G

BCL6 corepressor

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329

G

BCL6 corepressor like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955473:4,990,974...5,054,829
Ensembl chrNW_004955473:4,989,366...5,054,925

G

BRCA1 DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:32,935,827...32,973,820
Ensembl chrNW_004955413:32,935,827...32,973,804

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955484:3,999,655...4,006,632
Ensembl chrNW_004955484:3,999,665...4,006,632

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955421:11,797,270...12,111,353
Ensembl chrNW_004955421:11,797,071...12,111,490

G

CREB binding protein

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955432:29,925...254,327
Ensembl chrNW_004955432:29,197...254,379

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955406:5,256,057...5,299,573
Ensembl chrNW_004955406:5,254,558...5,299,573

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955511:3,758,631...3,782,560
Ensembl chrNW_004955511:3,758,628...3,782,560

G

EF-hand domain family member D1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955453:3,344,919...3,378,157

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955459:10,839,581...10,844,198

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955446:3,046,268...3,151,796
Ensembl chrNW_004955446:3,049,258...3,151,796

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955458:530,269...553,919
Ensembl chrNW_004955458:530,797...553,985

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Adenocystic carcinoma

NCBI chrNW_004955471:6,852,459...7,026,590
Ensembl chrNW_004955471:6,848,101...6,955,881

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955557:906,361...915,590
Ensembl chrNW_004955557:905,576...919,415

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004955551:2,321,190...2,427,000

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955408:29,370,480...29,383,531
Ensembl chrNW_004955408:29,370,468...29,383,971

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955432:20,205,369...20,589,608
Ensembl chrNW_004955432:20,334,237...20,589,352

G

growth arrest specific 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955476:3,092,461...3,226,269
Ensembl chrNW_004955476:3,100,479...3,226,262

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955404:276,397...303,864
Ensembl chrNW_004955404:275,946...304,809

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955541:809,079...816,807
Ensembl chrNW_004955541:809,079...816,807

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955471:11,367,318...11,422,199
Ensembl chrNW_004955471:11,367,282...11,424,273

G

H1.4 linker histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955483:870,957...871,724

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955524:2,754,970...2,760,198
Ensembl chrNW_004955524:2,755,367...2,760,198

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367

G

insulin like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955453:16,556,873...16,584,737
Ensembl chrNW_004955453:16,557,194...16,584,634

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955430:6,842,756...6,873,195
Ensembl chrNW_004955430:6,848,820...6,898,704

G

insulin receptor related receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955545:2,911,691...2,928,335
Ensembl chrNW_004955545:2,911,691...2,928,326

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955504:937,152...940,842
Ensembl chrNW_004955504:937,621...940,787

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955524:3,099,017...3,100,454
Ensembl chrNW_004955524:3,098,995...3,100,454

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955506:6,493,466...6,526,778
Ensembl chrNW_004955506:6,493,466...6,526,778

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955425:16,343,314...16,552,552
Ensembl chrNW_004955425:16,344,141...16,493,527

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955478:10,039,687...10,221,170
Ensembl chrNW_004955478:10,040,284...10,221,170

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955536:900,198...1,015,520
Ensembl chrNW_004955536:900,198...1,015,520

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 chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955467:9,085,239...9,106,658
Ensembl chrNW_004955467:9,086,204...9,094,404

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:31483290

NCBI chrNW_004955491:6,245,408...6,420,535
Ensembl chrNW_004955491:6,247,249...6,402,470

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955547:2,926,154...2,931,954
Ensembl chrNW_004955547:2,773,523...2,932,609

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 chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955517:54,699...654,398
Ensembl chrNW_004955517:55,091...655,638

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955410:6,739,115...7,295,027
Ensembl chrNW_004955410:6,400,242...7,294,924

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955428:3,602,255...4,009,994
Ensembl chrNW_004955428:3,603,101...4,008,781

G

mitogen-activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955495:4,695,239...4,718,380
Ensembl chrNW_004955495:4,695,768...4,722,098

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:21,112,162...21,176,506
Ensembl chrNW_004955422:21,109,940...21,176,500

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004955448:18,259,847...18,542,085
Ensembl chrNW_004955448:18,259,083...18,439,646

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955416:8,416,236...8,566,371
Ensembl chrNW_004955416:8,471,134...8,563,842

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955495:7,279,507...7,300,202
Ensembl chrNW_004955495:7,279,451...7,302,123

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955533:14,770...28,290
Ensembl chrNW_004955533:14,730...27,643

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chrNW_004955439:1,523,516...1,560,185
Ensembl chrNW_004955439:1,521,292...1,560,220

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955444:12,589,464...12,620,602
Ensembl chrNW_004955444:12,589,464...12,620,663

G

MYC binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955452:16,490,066...16,496,989

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955474:8,035,874...8,106,397
Ensembl chrNW_004955474:8,035,874...8,106,397

G

nuclear factor I B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955434:17,192,188...17,603,503
Ensembl chrNW_004955434:17,198,571...17,415,084

G

notch receptor 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955408:29,416,393...29,547,444
Ensembl chrNW_004955408:29,413,595...29,542,768

G

neurotrophic receptor tyrosine kinase 3

treatment

NCBI chrNW_004955416:16,652,931...17,018,188
Ensembl chrNW_004955416:16,652,791...17,018,188

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955568:405,697...436,346
Ensembl chrNW_004955568:386,904...436,346

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 chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024

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protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955454:7,733,697...7,890,896
Ensembl chrNW_004955454:7,733,978...7,890,867

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955415:31,254,240...31,283,651
Ensembl chrNW_004955415:31,254,204...31,283,651

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955413:22,034,048...22,288,430
Ensembl chrNW_004955413:22,035,837...22,287,763

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

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SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chrNW_004955403:3,134,960...3,163,395
Ensembl chrNW_004955403:3,134,955...3,166,121

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955415:27,477,801...27,930,108
Ensembl chrNW_004955415:27,477,819...27,928,383

G

solute carrier family 3 member 2

disease_progression

NCBI chrNW_004955599:376,133...391,434
Ensembl chrNW_004955599:376,245...391,311

G

solute carrier family 7 member 5

disease_progression

NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004955434:6,420,850...6,592,797
Ensembl chrNW_004955434:6,420,854...6,594,425

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955451:15,129,619...15,147,487
Ensembl chrNW_004955451:15,129,132...15,147,488

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955475:421,472...468,286
Ensembl chrNW_004955475:421,409...468,324

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955407:32,974,656...33,007,073
Ensembl chrNW_004955407:32,974,725...33,006,297

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955487:2,678,961...2,680,869
Ensembl chrNW_004955487:2,679,145...2,680,521

G

SRY-box transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955483:5,076,664...5,077,059

G

Snf2 related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955493:7,554,724...7,602,560
Ensembl chrNW_004955493:7,559,723...7,602,535

G

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

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955412:27,376,270...27,418,770
Ensembl chrNW_004955412:27,387,039...27,418,770

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687

G

tousled like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955449:3,694,624...3,840,468
Ensembl chrNW_004955449:3,747,504...3,840,468

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955451:14,928,273...14,964,855
Ensembl chrNW_004955451:14,929,136...14,964,723

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 chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928

G

ubiquitin like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955495:4,153,898...4,154,611

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955418:26,967,595...27,078,430

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955454:4,158,648...4,192,709
Ensembl chrNW_004955454:4,178,609...4,192,710

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

NCBI chrNW_004955415:29,107,060...29,175,374
Ensembl chrNW_004955415:29,107,034...29,175,538

G

zinc finger imprinted 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955567:104,509...118,860

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 chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613

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 chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786

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 chrNW_004955406:27,870,115...28,240,328
Ensembl chrNW_004955406:27,869,456...28,238,978

G

C-C motif chemokine receptor 2

susceptibility

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

NCBI chrNW_004955420:25,641,184...25,664,413

G

collagen type I alpha 1 chain

DNA:SNP

NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073

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 chrNW_004955414:5,062,355...5,092,631
Ensembl chrNW_004955414:5,062,355...5,092,154

G

interleukin 10

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

PMID:28662328 PMID:28868949

RGD:14975139 RGD:14975264

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

interleukin 1 receptor type 2

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

PMID:18315432 PMID:24818754

RGD:8662884 RGD:8662885

NCBI chrNW_004955470:7,518,565...7,562,219
Ensembl chrNW_004955470:7,518,663...7,559,470

G

interleukin 2

NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265

G

interleukin 6

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

NCBI chrNW_004955410:25,079,835...25,084,390

G

periostin

OMIM:170650 | OMIM:608526

NCBI chrNW_004955431:8,510,646...8,544,901
Ensembl chrNW_004955431:8,510,624...8,544,971

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

NCBI chrNW_004955456:7,381,923...7,383,203

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 chrNW_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512

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 chrNW_004955462:6,919,905...6,991,733
Ensembl chrNW_004955462:6,919,899...6,991,733

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chrNW_004955407:41,271,526...41,347,850
Ensembl chrNW_004955407:41,271,526...41,347,850

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 chrNW_004955453:15,104,229...15,109,487
Ensembl chrNW_004955453:15,104,229...15,112,468

G

ATP binding cassette subfamily B member 6 (LAN blood group)

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

NCBI chrNW_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chrNW_004955453:14,196,728...14,204,344
Ensembl chrNW_004955453:14,196,927...14,203,826

G

actin related protein 2/3 complex subunit 2

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

NCBI chrNW_004955453:15,117,978...15,145,895
Ensembl chrNW_004955453:15,116,093...15,146,041

G

acid sensing ion channel subunit family member 4

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

NCBI chrNW_004955453:13,937,745...13,961,664
Ensembl chrNW_004955453:13,935,826...13,961,664

G

autophagy related 9A

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

NCBI chrNW_004955453:14,203,798...14,214,760
Ensembl chrNW_004955453:14,206,065...14,213,729

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chrNW_004955453:15,008,225...15,015,030
Ensembl chrNW_004955453:15,008,368...15,015,520

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chrNW_004955453:14,471,625...14,474,082
Ensembl chrNW_004955453:14,472,757...14,473,896

G

cilia and flagella associated protein 65

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

NCBI chrNW_004955453:14,394,853...14,431,774
Ensembl chrNW_004955453:14,397,700...14,433,204

G

chondroitin polymerizing factor

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

NCBI chrNW_004955453:13,932,822...13,937,587
Ensembl chrNW_004955453:13,932,822...13,939,350

G

CCR4-NOT transcription complex subunit 9

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

NCBI chrNW_004955453:14,819,007...14,845,879
Ensembl chrNW_004955453:14,816,910...14,845,912

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chrNW_004955453:14,263,619...14,270,701
Ensembl chrNW_004955453:14,264,707...14,270,732

G

crystallin beta A2

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

NCBI chrNW_004955453:14,438,658...14,444,469
Ensembl chrNW_004955453:14,441,007...14,444,497

G

CTD small phosphatase 1

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

NCBI chrNW_004955453:14,971,276...14,976,667
Ensembl chrNW_004955453:14,968,484...14,976,667

G

C-X-C motif chemokine receptor 1

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

NCBI chrNW_004955453:15,181,027...15,196,224
Ensembl chrNW_004955453:15,194,205...15,195,272

G

desmin

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

NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chrNW_004955453:14,147,286...14,154,396
Ensembl chrNW_004955453:14,148,070...14,154,670

G

aspartyl aminopeptidase

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

NCBI chrNW_004955453:14,072,924...14,082,222
Ensembl chrNW_004955453:14,072,924...14,082,222

G

FEV transcription factor, ETS family member

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

NCBI chrNW_004955453:14,449,352...14,453,145
Ensembl chrNW_004955453:14,449,352...14,452,663

G

galactosidase beta 1 like

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

NCBI chrNW_004955453:14,185,582...14,196,779
Ensembl chrNW_004955453:14,185,692...14,196,779

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 chrNW_004955453:13,967,118...13,974,351
Ensembl chrNW_004955453:13,965,174...13,974,789

G

G protein-coupled bile acid receptor 1

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

NCBI chrNW_004955453:15,109,711...15,112,438
Ensembl chrNW_004955453:15,109,711...15,112,438

G

Indian hedgehog signaling molecule

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

NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747

G

sterol 26-hydroxylase, mitochondrial

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

NCBI chrNW_004955453:14,601,495...14,647,383
Ensembl chrNW_004955453:14,601,444...14,647,366

G

mitochondrial chaperone BCS1

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

NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383

G

non-homologous end joining factor 1

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

NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876

G

obscurin like cytoskeletal adaptor 1

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

NCBI chrNW_004955453:13,905,992...13,932,652
Ensembl chrNW_004955453:13,906,013...13,925,681

G

phospholipase C delta 4

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

NCBI chrNW_004955453:14,775,119...14,812,872
Ensembl chrNW_004955453:14,787,677...14,806,485

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chrNW_004955453:15,030,436...15,104,084
Ensembl chrNW_004955453:15,030,436...15,104,084

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chrNW_004955453:14,584,405...14,594,112
Ensembl chrNW_004955453:14,584,412...14,595,369

G

protein tyrosine phosphatase receptor type N

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

NCBI chrNW_004955453:14,126,416...14,145,347
Ensembl chrNW_004955453:14,126,416...14,145,347

G

regulated endocrine specific protein 18

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

NCBI chrNW_004955453:14,106,430...14,111,920

G

reticulophagy regulator family member 2

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

NCBI chrNW_004955453:14,258,523...14,263,573
Ensembl chrNW_004955453:14,258,523...14,263,573

G

ring finger protein 25

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

NCBI chrNW_004955453:14,753,575...14,761,617
Ensembl chrNW_004955453:14,753,575...14,761,617

G

solute carrier family 11 member 1

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

NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608

G

solute carrier family 23 member 3

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

NCBI chrNW_004955453:14,271,343...14,278,233
Ensembl chrNW_004955453:14,271,343...14,278,233

G

striated muscle enriched protein kinase

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

NCBI chrNW_004955453:13,979,080...14,033,718
Ensembl chrNW_004955453:13,976,674...14,033,252

G

serine/threonine kinase 16

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

NCBI chrNW_004955453:14,182,167...14,185,569
Ensembl chrNW_004955453:14,182,066...14,185,584

G

serine/threonine kinase 36

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

NCBI chrNW_004955453:14,727,779...14,753,534
Ensembl chrNW_004955453:14,728,583...14,753,534

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chrNW_004955453:15,083,179...15,100,197
Ensembl chrNW_004955453:15,092,522...15,099,021

G

transmembrane protein 198

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

NCBI chrNW_004955453:13,925,939...13,932,557
Ensembl chrNW_004955453:13,924,608...13,932,557

G

tubulin tyrosine ligase like 4

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

NCBI chrNW_004955453:14,679,945...14,720,025

G

tubulin alpha 4a

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

NCBI chrNW_004955453:14,177,043...14,180,814
Ensembl chrNW_004955453:14,175,866...14,182,023

G

ubiquitin specific peptidase 37

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

NCBI chrNW_004955453:14,846,044...14,931,336
Ensembl chrNW_004955453:14,846,044...14,931,336

G

villin 1

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

NCBI chrNW_004955453:14,935,450...14,961,011
Ensembl chrNW_004955453:14,935,456...14,961,011

G

Wnt family member 10A

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

NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818

G

Wnt family member 6

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

NCBI chrNW_004955453:14,547,427...14,560,001
Ensembl chrNW_004955453:14,545,700...14,560,976

G

zinc finger AN1-type containing 2B

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

NCBI chrNW_004955453:14,222,423...14,225,681
Ensembl chrNW_004955453:14,221,002...14,225,681

G

zinc finger protein 142

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

NCBI chrNW_004955453:14,766,665...14,786,403

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 chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004955495:2,418,113...2,421,181
Ensembl chrNW_004955495:2,418,364...2,421,538

G

angiotensin II receptor type 1

treatment

associated with periodontal disease

NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255

G

angiotensin II receptor type 2

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248

G

alkaline phosphatase, biomineralization associated

treatment

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

PMID:20630305 PMID:33364953

NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226

G

C-C motif chemokine receptor 2

associated with Periodontitis;

NCBI chrNW_004955420:25,641,184...25,664,413

G

cathepsin K

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004955588:149,036...158,093
Ensembl chrNW_004955588:148,748...158,093

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

interleukin 1 beta

treatment

associated with periodontal disease

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

interleukin 6

treatment

associated with periodontal disease

NCBI chrNW_004955410:25,079,835...25,084,390

G

integrin subunit alpha V

treatment

associated with periodontal disease

NCBI chrNW_004955403:11,588,536...11,669,809
Ensembl chrNW_004955403:11,592,339...11,659,297

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

NCBI chrNW_004955439:20,956,862...20,957,839
Ensembl chrNW_004955439:20,956,862...20,957,839

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288

G

poly(ADP-ribose) polymerase 1

NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615

G

peroxisome proliferator activated receptor gamma

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

TNF receptor superfamily member 11a

treatment

associated with periodontal disease

NCBI chrNW_004955402:46,242,329...46,298,157
Ensembl chrNW_004955402:46,264,164...46,296,368

G

TNF receptor superfamily member 11b

treatment

associated with periodontal disease

NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

PMID:19249596 PMID:33364953

NCBI chrNW_004955518:431,401...462,063
Ensembl chrNW_004955518:430,642...462,705

G

vitronectin

treatment

associated with periodontal disease

NCBI chrNW_004955481:4,765,078...4,768,027
Ensembl chrNW_004955481:4,765,193...4,771,019

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 chrNW_004955559:481,953...488,464
Ensembl chrNW_004955559:483,071...486,592

G

amelogenin X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004955544:1,974,889...1,979,063
Ensembl chrNW_004955544:1,969,216...1,979,063

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004955544:1,619,742...2,095,314
Ensembl chrNW_004955544:1,620,838...2,095,220

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004955434:19,156,746...19,568,983
Ensembl chrNW_004955434:19,165,912...19,515,720

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004955456:8,260,533...8,265,488
Ensembl chrNW_004955456:8,255,898...8,265,488

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004955485:6,568,178...6,616,972

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chrNW_004955532:650,913...681,186

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004955451:11,635,027...11,640,091
Ensembl chrNW_004955451:11,635,025...11,640,094

G

enamelin

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

PMID:25741868 PMID:28492532

NCBI chrNW_004955447:2,331,251...2,345,459
Ensembl chrNW_004955447:2,331,251...2,346,110

G

FAM20C golgi associated secretory pathway kinase

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

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

RGD:11560487 RGD:11560491

NCBI chrNW_004955460:8,142,325...8,192,044
Ensembl chrNW_004955460:8,143,824...8,193,825

G

family with sequence similarity 83 member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004955438:13,553,770...13,575,093
Ensembl chrNW_004955438:13,555,379...13,559,465

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chrNW_004955406:22,020,330...22,074,271
Ensembl chrNW_004955406:22,020,024...22,075,942

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025

G

RELT TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chrNW_004955414:18,074,487...18,104,972
Ensembl chrNW_004955414:18,075,448...18,093,548

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004955438:14,609,779...14,765,516
Ensembl chrNW_004955438:14,609,424...14,759,673

G

Sp6 transcription factor

NCBI chrNW_004955451:13,264,537...13,270,104
Ensembl chrNW_004955451:13,264,756...13,270,104

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042

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 chrNW_004955412:5,815,450...5,869,016
Ensembl chrNW_004955412:5,815,450...5,869,016

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 chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042

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 chrNW_004955474:1,502,798...1,509,307
Ensembl chrNW_004955474:1,502,791...1,509,294

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 chrNW_004955438:14,609,779...14,765,516
Ensembl chrNW_004955438:14,609,424...14,759,673

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 chrNW_004955485:6,568,178...6,616,972

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 chrNW_004955489:2,547,611...2,603,079
Ensembl chrNW_004955489:2,568,650...2,607,595

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 chrNW_004955485:6,568,178...6,616,972

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chrNW_004955451:11,635,027...11,640,091
Ensembl chrNW_004955451:11,635,025...11,640,094

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 chrNW_004955447:2,331,251...2,345,459
Ensembl chrNW_004955447:2,331,251...2,346,110

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 chrNW_004955447:2,331,251...2,345,459
Ensembl chrNW_004955447:2,331,251...2,346,110

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chrNW_004955412:5,815,450...5,869,016
Ensembl chrNW_004955412:5,815,450...5,869,016

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chrNW_004955409:1,451,506...1,631,976
Ensembl chrNW_004955409:1,467,732...1,674,042

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 chrNW_004955544:1,974,889...1,979,063
Ensembl chrNW_004955544:1,969,216...1,979,063

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 chrNW_004955544:1,619,742...2,095,314
Ensembl chrNW_004955544:1,620,838...2,095,220

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 chrNW_004955447:2,363,240...2,374,827
Ensembl chrNW_004955447:2,363,240...2,374,827

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 chrNW_004955478:4,182,568...4,236,819
Ensembl chrNW_004955478:4,182,568...4,236,819

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 chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087

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 chrNW_004955449:13,387,013...13,520,879
Ensembl chrNW_004955449:13,448,084...13,520,879

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 chrNW_004955559:481,953...488,464
Ensembl chrNW_004955559:483,071...486,592

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 chrNW_004955451:13,264,537...13,270,104
Ensembl chrNW_004955451:13,264,756...13,270,104

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 chrNW_004955438:13,553,770...13,575,093
Ensembl chrNW_004955438:13,555,379...13,559,465

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 chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194

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 chrNW_004955454:2,421,393...2,436,012
Ensembl chrNW_004955454:2,422,237...2,427,194

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chrNW_004955447:2,422,189...2,433,633
Ensembl chrNW_004955447:2,423,136...2,433,150

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 chrNW_004955414:18,074,487...18,104,972
Ensembl chrNW_004955414:18,075,448...18,093,548

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 chrNW_004955451:11,635,027...11,640,091
Ensembl chrNW_004955451:11,635,025...11,640,094

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 chrNW_004955418:1,213,503...1,269,755
Ensembl chrNW_004955418:1,213,503...1,269,746

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 chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786

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 chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786

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 chrNW_004955405:11,507,083...11,574,504
Ensembl chrNW_004955405:11,507,083...11,574,569

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chrNW_004955453:13,905,992...13,932,652
Ensembl chrNW_004955453:13,906,013...13,925,681

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036

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 chrNW_004955478:4,952,551...4,982,223
Ensembl chrNW_004955478:4,952,488...4,982,225

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

NCBI chrNW_004955425:7,353,964...7,357,599

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 chrNW_004955475:9,177,911...9,592,150
Ensembl chrNW_004955475:9,178,234...9,588,440

G

ectodysplasin A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chrNW_004955470:12,310,680...12,362,555
Ensembl chrNW_004955470:12,309,048...12,362,570

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955433:12,518,786...12,522,744
Ensembl chrNW_004955433:12,519,338...12,522,118

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 chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619

G

keratinocyte differentiation factor 1

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

NCBI chrNW_004955452:6,280,391...6,288,985
Ensembl chrNW_004955452:6,280,391...6,289,608

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

NCBI chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288

G

msh homeobox 1

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

NCBI chrNW_004955514:4,923,552...4,927,471
Ensembl chrNW_004955514:4,923,552...4,927,471

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 chrNW_004955409:24,401,599...24,443,687
Ensembl chrNW_004955409:24,424,343...24,444,040

G

RAN binding protein 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

NCBI chrNW_004955409:23,949,794...24,421,944
Ensembl chrNW_004955409:23,952,595...24,421,307

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 chrNW_004955456:8,773,917...8,782,427

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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310

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 chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419

G

interleukin 10

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

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

methylenetetrahydrofolate reductase

severity

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

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

transforming growth factor beta 1

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

NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441

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 chrNW_004955446:18,163,117...18,244,840
Ensembl chrNW_004955446:18,163,117...18,245,199

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 chrNW_004955496:6,934,542...7,059,745
Ensembl chrNW_004955496:6,908,224...7,059,816

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 chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004

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 chrNW_004955432:3,246,090...3,257,774
Ensembl chrNW_004955432:3,246,092...3,257,774

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chrNW_004955455:14,679,416...14,960,226
Ensembl chrNW_004955455:14,679,416...14,957,532

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 chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511

AURONEURODENTAL SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronidase 3

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chrNW_004955532:2,107,019...2,112,356
Ensembl chrNW_004955532:2,106,565...2,108,892

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chrNW_004955532:2,109,595...2,112,013
Ensembl chrNW_004955532:2,110,133...2,110,744

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 chrNW_004955403:43,860,811...43,886,398
Ensembl chrNW_004955403:43,860,728...43,886,732

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 chrNW_004955426:3,992,671...4,130,754
Ensembl chrNW_004955426:3,992,671...4,130,754

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 chrNW_004955426:3,953,852...3,982,532
Ensembl chrNW_004955426:3,953,933...3,982,175

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 chrNW_004955474:2,254,842...2,259,303

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 chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095

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 chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875

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 chrNW_004955515:313,612...554,751
Ensembl chrNW_004955515:313,604...553,774

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 chrNW_004955457:14,325,278...14,444,368
Ensembl chrNW_004955457:14,325,281...14,379,937

G

ankyrin 2

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

NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261

G

adaptor related protein complex 1 associated regulatory protein

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

NCBI chrNW_004955457:14,456,414...14,471,584
Ensembl chrNW_004955457:14,457,990...14,491,435

G

family with sequence similarity 241 member A

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

NCBI chrNW_004955457:14,550,478...14,553,757

G

high mobility group nucleosomal binding domain 2

OMIM:180500

NCBI chrNW_004955452:5,846,085...5,849,996
Ensembl chrNW_004955452:5,846,085...5,849,996

G

La ribonucleoprotein 7, transcriptional regulator

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

NCBI chrNW_004955457:14,178,674...14,200,164
Ensembl chrNW_004955457:14,178,947...14,192,193

G

neurogenin 2

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

NCBI chrNW_004955457:14,268,078...14,287,050

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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310

G

PR/SET domain 5

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

NCBI chrNW_004955428:19,684,721...19,881,716
Ensembl chrNW_004955428:19,714,730...19,881,917

G

TRAF interacting protein with forkhead associated domain

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

NCBI chrNW_004955457:14,444,811...14,460,168
Ensembl chrNW_004955457:14,444,814...14,450,767

G

zinc finger GRF-type containing 1

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

NCBI chrNW_004955457:14,200,280...14,258,010

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 chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

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

NCBI chrNW_004955419:27,616,606...27,619,908

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 chrNW_004955542:1,959,765...2,000,665
Ensembl chrNW_004955542:1,959,765...2,000,665

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 chrNW_004955407:39,728,645...39,748,752
Ensembl chrNW_004955407:39,728,634...39,748,791

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 chrNW_004955507:6,066,026...6,102,066
Ensembl chrNW_004955507:6,067,203...6,102,001

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 chrNW_004955559:1,085,033...1,102,501
Ensembl chrNW_004955559:1,084,182...1,103,143

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

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

NCBI chrNW_004955432:4,911,774...5,085,349

G

adenosine deaminase 2

ClinVar Annotator: match by term: Behcet's syndrome

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

NCBI chrNW_004955454:5,341,822...5,355,383

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424

G

catalase

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

PMID:12074830 PMID:17206395

NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464

G

CD40 ligand

protein:increased expression:plasma

NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chrNW_004955432:9,521,794...9,727,772
Ensembl chrNW_004955432:9,521,794...9,726,417

G

complement factor B

NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464

G

carboxypeptidase B2

NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539

G

cytotoxic T-lymphocyte associated protein 4

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

NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643

G

7-dehydrocholesterol reductase

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

NCBI chrNW_004955422:15,119,155...15,136,771
Ensembl chrNW_004955422:15,119,173...15,136,771

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955418:15,827,560...15,859,720
Ensembl chrNW_004955418:15,830,371...15,859,720

G

coagulation factor V

no_association

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

NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979

G

intercellular adhesion molecule 1

no_association
susceptibility

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

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

RGD:8158115 RGD:8158123 RGD:8547575

NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755

G

interferon gamma

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

PMID:2154346 PMID:21334264

RGD:8142356 RGD:8142377

NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802

G

interleukin 10

susceptibility
treatment
onset
disease_progression

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 chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

interleukin 17A

protein:increased expression:plasma (human)

NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962

G

interleukin 18

no_association
susceptibility

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

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

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

NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chrNW_004955470:7,854,995...7,887,810
Ensembl chrNW_004955470:7,854,988...7,887,883

G

interleukin 1 beta

protein:increased expression:serum

NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947

G

interleukin 1 receptor antagonist

protein:increased expression:serum

NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471

G

interleukin 2

DNA:polymorphism:promoter (human)

NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265

G

interleukin 21 receptor

NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583

G

interleukin 23 receptor

susceptibility

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

PMID:20375120 PMID:22483685

RGD:8549550 RGD:8549565

NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904

G

interleukin 4

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

NCBI chrNW_004955408:4,058,052...4,065,999

G

interleukin 6

protein:increased secretion:monocyte:

NCBI chrNW_004955410:25,079,835...25,084,390

G

interferon regulatory factor 8

susceptibility

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

PMID:26794091 PMID:28592884 PMID:28881647

RGD:329902077 RGD:329902079 RGD:329955373

NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106

G

integrin subunit alpha 2

susceptibility

NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955493:7,397,813...7,435,420
Ensembl chrNW_004955493:7,397,991...7,439,070

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201

G

cytochrome P450 1A1

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

NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488

G

HLA class II histocompatibility antigen, DM beta chain

no_association

NCBI chrNW_004955437:1,544,906...1,551,412
Ensembl chrNW_004955437:1,541,491...1,551,159

G

HLA class II histocompatibility antigen, DM alpha chain

no_association

NCBI chrNW_004955437:1,558,806...1,562,294
Ensembl chrNW_004955437:1,558,911...1,562,162

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 chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016

G

matrix metallopeptidase 2

NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

PMID:17949555 PMID:22116092

RGD:8547820 RGD:8657044

NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288

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 chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710

G

nitric oxide synthase 3

susceptibility
no_association

DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
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 chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

G

paraoxonase 1

protein:decreased activity:serum (human)

NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339

G

protein Z, vitamin K dependent plasma glycoprotein

NCBI chrNW_004955404:647,217...657,256
Ensembl chrNW_004955404:646,841...657,262

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 chrNW_004955450:1,876,553...1,908,269
Ensembl chrNW_004955450:1,876,409...1,908,185

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 chrNW_004955435:17,082,762...17,139,067

G

serpin family E member 1

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

PMID:12074830 PMID:18341631

NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608

G

superoxide dismutase 1

protein:increased activity:serum (human)

NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727

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 chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687

G

signal transducer and activator of transcription 4

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

PMID:20438790 PMID:23001997 PMID:23291587

RGD:8661713 RGD:8661718

NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276

G

transforming growth factor beta 1

DNA:polymorphism:promoter:exon (human)

NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441

G

toll like receptor 2

no_association
susceptibility

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

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

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

NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258

G

toll like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467

G

toll like receptor 4

susceptibility
no_association

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

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

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

NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135

G

tumor necrosis factor

no_association

associated with Uveitis;protein:increased expression:aqueous humor:
DNA:SNP:promoter
protein:increased expression:serum
DNA:SNP:promoter:-308G>A (human)
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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Behcet disease

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

NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021

G

vitamin D receptor

no_association

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

NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048

G

vascular endothelial growth factor A

protein:increased expression:serum

NCBI chrNW_004955437:9,527,445...9,541,908

G

vimentin

NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554

G

von Willebrand factor

NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571

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 chrNW_004955456:7,381,923...7,383,203

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 chrNW_004955458:1,197,295...1,205,098
Ensembl chrNW_004955458:1,197,295...1,205,127

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chrNW_004955413:15,239,070...15,470,137
Ensembl chrNW_004955413:15,239,057...15,471,331

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chrNW_004955489:4,817,753...4,819,858
Ensembl chrNW_004955489:4,817,753...4,819,131

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

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

NCBI chrNW_004955462:10,925,383...10,973,814
Ensembl chrNW_004955462:10,925,383...10,973,814

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 chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073

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 chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967

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 chrNW_004955511:2,658,879...2,705,992
Ensembl chrNW_004955511:2,658,858...2,703,958

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 chrNW_004955402:18,781,511...18,811,675
Ensembl chrNW_004955402:18,790,243...18,810,305

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 chrNW_004955422:19,714,161...19,730,344
Ensembl chrNW_004955422:19,714,627...19,729,855

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004955422:19,730,224...19,742,348
Ensembl chrNW_004955422:19,730,224...19,742,348

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 chrNW_004955420:26,774,506...26,828,301
Ensembl chrNW_004955420:26,775,120...26,827,660

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 chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146

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 chrNW_004955513:2,835,466...2,842,325
Ensembl chrNW_004955513:2,833,234...2,842,325

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 chrNW_004955513:2,835,466...2,842,325
Ensembl chrNW_004955513:2,833,234...2,842,325

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 chrNW_004955440:9,420,141...9,536,767
Ensembl chrNW_004955440:9,420,009...9,536,761

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 chrNW_004955404:15,279,956...15,298,295
Ensembl chrNW_004955404:15,279,866...15,298,295

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 chrNW_004955434:9,675,654...9,770,174
Ensembl chrNW_004955434:9,675,654...9,770,174

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 chrNW_004955444:8,336,071...8,655,041
Ensembl chrNW_004955444:8,495,530...8,655,100

cerebellofaciodental syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRF1 general transcription factor IIIB subunit

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

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

NCBI chrNW_004955538:3,469,322...3,544,704
Ensembl chrNW_004955538:3,470,249...3,544,704

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 chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chrNW_004955456:7,224,224...7,230,736
Ensembl chrNW_004955456:7,224,202...7,230,660

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 chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626

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 chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130

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 chrNW_004955415:13,522,638...13,530,725
Ensembl chrNW_004955415:13,520,530...13,531,466

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 chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955404:11,420,964...11,421,171

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:359,174...376,916
Ensembl chrNW_004955514:359,174...376,916

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:630,168...652,817
Ensembl chrNW_004955514:626,645...652,817

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:452,548...475,240
Ensembl chrNW_004955514:453,886...464,978

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:2,166,263...2,190,211
Ensembl chrNW_004955514:2,166,079...2,190,128

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,588,882...1,672,292
Ensembl chrNW_004955514:1,588,894...1,672,292

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:917,344...947,729
Ensembl chrNW_004955514:914,325...947,738

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:499,526...509,208
Ensembl chrNW_004955514:497,573...509,811

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:391,305...434,198
Ensembl chrNW_004955514:387,179...434,077

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,837,141...1,895,785
Ensembl chrNW_004955514:1,837,141...1,895,785

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,331,838...1,342,128
Ensembl chrNW_004955514:1,327,039...1,341,635

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:2,155,924...2,161,302
Ensembl chrNW_004955514:2,155,384...2,165,957

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,906,189...2,042,357
Ensembl chrNW_004955514:1,906,502...2,038,889

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,040,103...1,069,297
Ensembl chrNW_004955514:1,042,307...1,069,114

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:689,867...722,779
Ensembl chrNW_004955514:689,868...722,779

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,813,259...1,815,834

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:2,037,891...2,053,746
Ensembl chrNW_004955514:2,037,891...2,053,746

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,348,602...1,358,092
Ensembl chrNW_004955514:1,345,960...1,358,092

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:282,565...289,199

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,207,310...1,213,732

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,162,993...1,173,278
Ensembl chrNW_004955514:1,162,993...1,173,278

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,200,732...1,201,730
Ensembl chrNW_004955514:1,200,721...1,213,789

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:763,160...781,635

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,817,645...1,837,011
Ensembl chrNW_004955514:1,817,980...1,836,984

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:307,331...350,039
Ensembl chrNW_004955514:307,332...350,039

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:234,972...279,420
Ensembl chrNW_004955514:234,972...279,420

G

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:119,804...152,603
Ensembl chrNW_004955514:120,287...151,827

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,214,867...1,342,172
Ensembl chrNW_004955514:1,215,131...1,329,024

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:2,081,575...2,154,414
Ensembl chrNW_004955514:2,088,354...2,154,191

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955545:2,089,530...2,099,404
Ensembl chrNW_004955545:2,089,536...2,099,404

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:525,430...559,037
Ensembl chrNW_004955514:525,085...559,153

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,501,943...1,525,689
Ensembl chrNW_004955514:1,511,062...1,523,714

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 chrNW_004955514:1,700,889...1,730,002
Ensembl chrNW_004955514:1,712,793...1,730,002

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:954,489...968,670
Ensembl chrNW_004955514:955,296...967,327

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:476,062...484,710
Ensembl chrNW_004955514:475,731...479,616

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:289,301...295,443
Ensembl chrNW_004955514:289,874...295,127

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:598,840...603,390
Ensembl chrNW_004955514:596,829...604,051

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:973,457...986,640
Ensembl chrNW_004955514:975,176...986,686

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:968,763...972,918
Ensembl chrNW_004955514:968,763...972,918

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:434,283...453,239
Ensembl chrNW_004955514:434,285...453,239

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,682,641...1,687,881

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:725,257...754,274
Ensembl chrNW_004955514:728,522...756,348

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:1,366,186...1,450,982
Ensembl chrNW_004955514:1,367,067...1,450,909

G

zinc finger protein 721

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004955514:10,741...81,730

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 chrNW_004955406:27,870,115...28,240,328
Ensembl chrNW_004955406:27,869,456...28,238,978

G

C-C motif chemokine receptor 2

NCBI chrNW_004955420:25,641,184...25,664,413

G

C-X-C motif chemokine ligand 12

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

PMID:20731768 PMID:21382035

NCBI chrNW_004955546:1,929,269...1,941,690
Ensembl chrNW_004955546:1,929,269...1,941,690

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues

NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109

G

DAB2 interacting protein

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

NCBI chrNW_004955419:6,229,437...6,416,619
Ensembl chrNW_004955419:6,228,591...6,416,402

G

desmocollin 1

mRNA:decreased expression:gingival tissues

NCBI chrNW_004955402:18,514,657...18,543,449
Ensembl chrNW_004955402:18,513,817...18,543,720

G

desmoglein 1

mRNA:decreased expression:gingival tissues

NCBI chrNW_004955402:18,668,717...18,704,329
Ensembl chrNW_004955402:18,668,196...18,700,630

G

estrogen receptor 1

no_association

DNA:polymorphism

NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353

G

interleukin 10

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

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

interleukin 1 receptor like 1

mRNA:increased expression:gingiva

NCBI chrNW_004955470:7,779,828...7,849,157

G

interleukin 33

mRNA, protein:increased expression:gingiva

NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues

NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

NCBI chrNW_004955492:5,805,170...5,846,402
Ensembl chrNW_004955492:5,805,170...5,846,402

G

matrix metallopeptidase 2

treatment

associated with Atherosclerosis
mRNA:increased expression:gingival tissues

PMID:21382035 PMID:24820783

RGD:13207324 RGD:6480655

NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288

G

nestin

mRNA:decreased expression:gingival tissues

NCBI chrNW_004955545:2,748,132...2,756,595
Ensembl chrNW_004955545:2,748,078...2,756,301

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues

NCBI chrNW_004955413:23,697,504...23,710,668
Ensembl chrNW_004955413:23,693,669...23,710,704

G

receptor interacting serine/threonine kinase 3

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

NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712

G

toll like receptor 2

severity

protein:increased expression:gingiva:

NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258

G

toll like receptor 3

severity

protein:increased expression:gingiva:

NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467

G

toll like receptor 4

severity

protein:increased expression:gingiva:

NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135

G

toll like receptor 9

severity

protein:increased expression:gingiva:

NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955518:431,401...462,063
Ensembl chrNW_004955518:430,642...462,705

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048

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 chrNW_004955423:612,098...738,702
Ensembl chrNW_004955423:612,098...736,035

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 chrNW_004955500:2,688,281...2,850,667
Ensembl chrNW_004955500:2,689,717...2,850,667

G

Rho GTPase activating protein 29

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

NCBI chrNW_004955423:511,635...570,593
Ensembl chrNW_004955423:500,905...570,593

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 chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303

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 chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967

G

catenin delta 1

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

PMID:25741868 PMID:29805042

NCBI chrNW_004955511:2,658,879...2,705,992
Ensembl chrNW_004955511:2,658,858...2,703,958

G

epithelial splicing regulatory protein 2

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

NCBI chrNW_004955484:8,426,453...8,433,902
Ensembl chrNW_004955484:8,426,453...8,433,893

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

NCBI chrNW_004955415:11,151,330...11,245,554
Ensembl chrNW_004955415:11,151,266...11,247,344

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955446:18,163,117...18,244,840
Ensembl chrNW_004955446:18,163,117...18,245,199

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:16,333,363...16,339,853
Ensembl chrNW_004955422:16,333,363...16,339,853

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955497:2,199,424...2,232,088
Ensembl chrNW_004955497:2,199,409...2,235,893

G

fibroblast growth factor receptor 1

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

PMID:17963255 PMID:24613087

NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955551:2,321,190...2,427,000

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590

G

growth differentiation factor 6

NCBI chrNW_004955417:12,152,448...12,169,173
Ensembl chrNW_004955417:12,152,448...12,169,362

G

interferon regulatory factor 6

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

PMID:25741868 PMID:28492532

NCBI chrNW_004955489:2,404,773...2,434,729
Ensembl chrNW_004955489:2,415,925...2,437,837

G

kinesin family member 7

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

NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955445:16,219,675...16,222,913

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

NCBI chrNW_004955514:4,923,552...4,927,471
Ensembl chrNW_004955514:4,923,552...4,927,471

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 chrNW_004955466:5,422,141...5,485,773
Ensembl chrNW_004955466:5,420,702...5,485,773

G

methylenetetrahydrofolate reductase

susceptibility

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

PMID:16470725 PMID:27387868

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955533:720,255...756,893
Ensembl chrNW_004955533:720,353...756,893

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982

G

nectin cell adhesion molecule 1

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

NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069

G

noggin

susceptibility

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

PMID:25339627 PMID:25704602

RGD:11251786 RGD:12801482

NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

G

netrin 1

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

NCBI chrNW_004955467:7,795,175...7,991,597
Ensembl chrNW_004955467:7,794,735...7,991,695

G

pleckstrin homology domain containing A5

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

NCBI chrNW_004955413:15,239,070...15,470,137
Ensembl chrNW_004955413:15,239,057...15,471,331

G

pleckstrin homology domain containing A7

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

NCBI chrNW_004955414:31,655,391...31,784,009
Ensembl chrNW_004955414:31,655,391...31,784,002

G

protein O-mannosyltransferase 1

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

NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622

G

syndecan 2

NCBI chrNW_004955417:12,462,354...12,563,374
Ensembl chrNW_004955417:12,462,354...12,564,633

G

solute carrier family 19 member 1

susceptibility

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

PMID:18797703 PMID:21254359

NCBI chrNW_004955407:42,132,216...42,154,252
Ensembl chrNW_004955407:42,132,165...42,141,992

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955404:27,349,286...27,353,706
Ensembl chrNW_004955404:27,349,519...27,353,706

G

small ubiquitin like modifier 1

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

NCBI chrNW_004955457:12,538,974...12,565,803
Ensembl chrNW_004955457:12,538,480...12,565,803

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955455:4,827,030...4,849,810
Ensembl chrNW_004955455:4,826,694...4,849,613

G

tumor protein p63

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

NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631

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 chrNW_004955532:2,120,781...2,125,083
Ensembl chrNW_004955532:2,120,781...2,123,726

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 chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786

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 chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069

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 chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406

G

basonuclin zinc finger protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955434:19,156,746...19,568,983
Ensembl chrNW_004955434:19,165,912...19,515,720

G

calcium/calmodulin dependent serine protein kinase

CTD Direct Evidence: marker/mechanism
DNA:insertion

NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692

G

core-binding factor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955484:9,503,286...9,557,066
Ensembl chrNW_004955484:9,503,227...9,557,066

G

cell division cycle 42

NCBI chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955507:6,066,026...6,102,066
Ensembl chrNW_004955507:6,067,203...6,102,001

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 chrNW_004955437:1,739,426...1,767,087
Ensembl chrNW_004955437:1,740,402...1,766,490

G

collagen type II alpha 1 chain

susceptibility

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

PMID:15562585 PMID:20672350

NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473

G

discs large MAGUK scaffold protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955420:13,068,289...13,273,805
Ensembl chrNW_004955420:13,068,289...13,273,805

G

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Cleft palate

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004955410:24,045,333...24,352,626
Ensembl chrNW_004955410:24,044,886...24,352,626

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955446:18,163,117...18,244,840
Ensembl chrNW_004955446:18,163,117...18,245,199

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955422:16,333,363...16,339,853
Ensembl chrNW_004955422:16,333,363...16,339,853

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955409:4,633,542...4,686,768
Ensembl chrNW_004955409:4,632,858...4,686,860

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955497:2,199,424...2,232,088
Ensembl chrNW_004955497:2,199,409...2,235,893

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

PMID:17963255 PMID:29526646

NCBI chrNW_004955551:2,321,190...2,427,000

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590

G

filamin A

ClinVar Annotator: match by term: Cleft palate

PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More...

NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232

G

filamin B

susceptibility

DNA:SNPs::

NCBI chrNW_004955430:7,680,394...7,832,124
Ensembl chrNW_004955430:7,680,394...7,832,124

G

frizzled class receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865

G

growth differentiation factor 6

NCBI chrNW_004955417:12,152,448...12,169,173
Ensembl chrNW_004955417:12,152,448...12,169,362

G

GLI family zinc finger 3

NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918

G

G protein subunit beta 1

ClinVar Annotator: match by term: Cleft palate

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901