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 (1268)

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_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464

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_004936745:2,067,272...2,067,948
Ensembl chrNW_004936745:2,028,286...2,067,948

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_004936547:1,645,118...1,654,332
Ensembl chrNW_004936547:1,645,118...1,654,332

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

NCBI chrNW_004936512:10,589,549...10,604,831
Ensembl chrNW_004936512:10,588,786...10,604,861

G

lamin A/C

OMIM:200400

NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468

G

nitric oxide synthase 1

OMIM:200400

NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chrNW_004936511:1,452,421...1,458,031
Ensembl chrNW_004936511:1,452,807...1,458,031

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

NCBI chrNW_004936695:2,564,917...2,597,009
Ensembl chrNW_004936695:2,564,890...2,607,676

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

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_004936478:7,146,997...7,160,369
Ensembl chrNW_004936478:7,147,027...7,160,401

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:11,148,857...11,197,312

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004936512:4,020,303...4,199,390
Ensembl chrNW_004936512:4,020,966...4,196,459

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936484:17,116,304...17,257,640
Ensembl chrNW_004936484:17,116,229...17,258,277

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936614:1,072,263...1,252,573
Ensembl chrNW_004936614:1,072,260...1,252,283

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211

G

ATR serine/threonine kinase

treatment

NCBI chrNW_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620

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_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568

G

BCL6 corepressor

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916

G

BCL6 corepressor like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936479:1,539,676...1,605,647
Ensembl chrNW_004936479:1,538,051...1,606,344

G

BRCA1 DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:17,735,444...17,801,456

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936629:909,716...958,620
Ensembl chrNW_004936629:909,680...958,896

G

cyclin D1

CTD Direct Evidence: marker/mechanism

Ensembl chrNW_004936599:973,838...983,316

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:22,434,009...22,441,350
Ensembl chrNW_004936475:22,434,180...22,440,846

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936577:1,108,502...1,393,706
Ensembl chrNW_004936577:1,167,211...1,393,521

G

CREB binding protein

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936680:2,842,930...3,020,757
Ensembl chrNW_004936680:2,842,547...3,021,058

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936557:1,347,991...1,389,836
Ensembl chrNW_004936557:1,347,991...1,389,836

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936581:3,433,760...3,467,863
Ensembl chrNW_004936581:3,437,489...3,467,869

G

EF-hand domain family member D1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936525:4,445,779...4,484,674
Ensembl chrNW_004936525:4,445,773...4,484,680

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936469:51,439,944...51,451,194

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936480:3,155,934...3,293,224
Ensembl chrNW_004936480:3,154,690...3,293,230

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936512:10,556,269...10,576,582
Ensembl chrNW_004936512:10,556,672...10,576,588

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Adenocystic carcinoma

NCBI chrNW_004936689:2,261,163...2,449,951
Ensembl chrNW_004936689:2,259,477...2,344,764

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936683:2,454,067...2,463,653
Ensembl chrNW_004936683:2,454,067...2,463,635

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936597:1,388,394...1,397,731
Ensembl chrNW_004936597:1,385,624...1,397,758

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936589:4,120,162...4,661,258
Ensembl chrNW_004936589:4,123,182...4,382,005

G

growth arrest specific 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936654:3,326,557...3,448,930
Ensembl chrNW_004936654:3,326,511...3,448,872

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936472:27,116...57,158
Ensembl chrNW_004936472:32,123...54,028

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936641:2,757,150...2,775,904
Ensembl chrNW_004936641:2,757,150...2,776,681

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936576:2,353,874...2,411,747
Ensembl chrNW_004936576:2,353,761...2,411,425

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936596:2,406,427...2,413,651
Ensembl chrNW_004936596:2,406,326...2,413,604

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_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958

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_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363

G

insulin like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936586:671,760...696,783
Ensembl chrNW_004936586:672,091...696,692

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936473:7,447,292...7,507,819
Ensembl chrNW_004936473:7,447,292...7,507,830

G

insulin receptor related receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936580:5,982,259...5,999,994
Ensembl chrNW_004936580:5,983,006...5,999,994

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936815:90,707...94,138
Ensembl chrNW_004936815:90,942...94,147

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936596:2,815,782...2,819,100
Ensembl chrNW_004936596:2,815,821...2,819,020

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936753:1,413,935...1,645,974
Ensembl chrNW_004936753:1,414,240...1,645,161

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936541:2,480,097...2,677,693
Ensembl chrNW_004936541:2,480,849...2,675,991

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791

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_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936595:1,077,318...1,099,082
Ensembl chrNW_004936595:1,089,544...1,097,595

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:31483290

NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365

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_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523

G

keratin 15

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:16,431,604...16,436,139
Ensembl chrNW_004936490:16,431,558...16,526,000

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517

G

membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936637:985,706...1,154,670
Ensembl chrNW_004936637:560,298...1,151,850

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_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936479:21,373,917...22,062,498
Ensembl chrNW_004936479:21,373,746...21,920,214

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936535:7,537,420...7,991,983
Ensembl chrNW_004936535:7,599,660...7,989,952

G

mitogen-activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936588:2,338,127...2,377,090
Ensembl chrNW_004936588:2,336,858...2,377,090

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936679:2,373,104...2,379,230

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936599:5,226,603...5,287,677
Ensembl chrNW_004936599:5,226,496...5,287,683

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004936593:2,742,236...3,282,596
Ensembl chrNW_004936593:3,106,202...3,282,596

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936471:4,946,770...5,073,925
Ensembl chrNW_004936471:4,946,124...5,073,849

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936588:25,272...46,226
Ensembl chrNW_004936588:25,253...46,246

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936629:696,592...719,363
Ensembl chrNW_004936629:696,451...719,416

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936471:37,073,920...37,097,216
Ensembl chrNW_004936471:37,073,895...37,097,235

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chrNW_004936560:2,797,943...2,828,813
Ensembl chrNW_004936560:2,796,697...2,829,650

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936496:7,395,541...7,436,295
Ensembl chrNW_004936496:7,395,533...7,436,358

G

MYC binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:20,837,757...20,871,444
Ensembl chrNW_004936474:20,856,732...20,866,184

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:450,382...508,357
Ensembl chrNW_004936475:450,382...508,357

G

nuclear factor I B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936539:7,763,036...8,185,001
Ensembl chrNW_004936539:7,769,413...7,985,316

G

notch receptor 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936597:1,426,318...1,577,193
Ensembl chrNW_004936597:1,425,974...1,572,715

G

neurotrophic receptor tyrosine kinase 3

treatment

NCBI chrNW_004936483:13,912,904...14,291,881
Ensembl chrNW_004936483:13,909,109...14,291,887

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936721:783,973...787,712
Ensembl chrNW_004936721:782,032...787,952

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936867:426,648...439,512

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_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936590:4,722,914...4,887,615
Ensembl chrNW_004936590:4,722,873...4,890,156

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936620:533,574...575,893
Ensembl chrNW_004936620:532,634...575,916

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936492:4,624,013...4,826,715
Ensembl chrNW_004936492:4,645,167...4,821,291

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chrNW_004936506:1,749,591...1,790,860
Ensembl chrNW_004936506:1,749,563...1,791,739

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936485:637,715...1,085,860
Ensembl chrNW_004936485:639,532...1,085,830

G

solute carrier family 3 member 2

disease_progression

NCBI chrNW_004936581:424,801...441,592

G

solute carrier family 7 member 5

disease_progression

NCBI chrNW_004936641:1,513,110...1,538,955

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004936619:1,276,239...1,308,945
Ensembl chrNW_004936619:1,275,362...1,308,913

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:15,638,546...15,659,372
Ensembl chrNW_004936490:15,638,526...15,659,706

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936751:332,351...388,756
Ensembl chrNW_004936751:349,597...388,755

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936500:8,721,155...8,752,906
Ensembl chrNW_004936500:8,722,087...8,752,844

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004937107:203,120...207,185

G

Snf2 related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:13,095,690...13,131,183
Ensembl chrNW_004936501:13,096,840...13,131,183

G

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

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936572:5,806,897...5,851,557
Ensembl chrNW_004936572:5,806,894...5,841,550

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402

G

tousled like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936509:1,315,802...1,403,993
Ensembl chrNW_004936509:1,317,534...1,404,705

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:15,441,463...15,465,692
Ensembl chrNW_004936490:15,441,575...15,466,978

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_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425

G

ubiquitin like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936588:2,863,651...2,890,116
Ensembl chrNW_004936588:2,862,367...2,888,946

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936469:2,585,142...2,688,029
Ensembl chrNW_004936469:2,585,134...2,688,029

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936606:1,741,500...1,854,857
Ensembl chrNW_004936606:1,838,043...1,856,095

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

NCBI chrNW_004936620:4,069,956...4,145,212
Ensembl chrNW_004936620:4,069,934...4,145,745

G

zinc finger imprinted 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936882:533,514...539,145

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_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505

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_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729

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_004936481:711,356...1,067,856
Ensembl chrNW_004936481:713,539...1,068,237

G

collagen type I alpha 1 chain

DNA:SNP

NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444

G

C-reactive protein

protein:increased expression:serum:

NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606

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_004936736:1,201,343...1,240,311

G

interleukin 10

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

PMID:28662328 PMID:28868949

RGD:14975139 RGD:14975264

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 1 receptor type 2

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

PMID:18315432 PMID:24818754

RGD:8662884 RGD:8662885

NCBI chrNW_004936713:679,680...716,801
Ensembl chrNW_004936713:701,155...716,650

G

interleukin 2

NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625

G

interleukin 6

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

NCBI chrNW_004936549:7,015,595...7,016,246

G

periostin

OMIM:170650 | OMIM:608526

NCBI chrNW_004936472:31,644,778...31,677,572
Ensembl chrNW_004936472:31,644,778...31,677,572

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

NCBI chrNW_004936478:19,669,727...19,673,355
Ensembl chrNW_004936478:19,669,506...19,673,398

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_004936470:7,789,486...7,791,067
Ensembl chrNW_004936470:7,789,541...7,791,039

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_004936481:16,208,243...16,272,836
Ensembl chrNW_004936481:16,205,240...16,272,850

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chrNW_004936500:264,716...317,419
Ensembl chrNW_004936500:264,644...329,355

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_004936569:794,814...799,770
Ensembl chrNW_004936569:790,510...799,896

G

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

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

NCBI chrNW_004936569:1,628,649...1,635,599
Ensembl chrNW_004936569:1,625,374...1,635,694

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chrNW_004936569:1,645,780...1,653,526
Ensembl chrNW_004936569:1,650,088...1,653,522

G

actin related protein 2/3 complex subunit 2

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

NCBI chrNW_004936569:758,358...786,995
Ensembl chrNW_004936569:758,199...786,760

G

acid sensing ion channel subunit family member 4

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

NCBI chrNW_004936569:1,894,631...1,918,822
Ensembl chrNW_004936569:1,896,395...1,918,847

G

autophagy related 9A

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

NCBI chrNW_004936569:1,635,958...1,645,600
Ensembl chrNW_004936569:1,635,836...1,645,815

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chrNW_004936569:869,695...876,239

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chrNW_004936569:1,381,101...1,383,593
Ensembl chrNW_004936569:1,381,262...1,382,365

G

cilia and flagella associated protein 65

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

NCBI chrNW_004936569:1,449,654...1,462,582

G

chondroitin polymerizing factor

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

NCBI chrNW_004936569:1,918,999...1,923,735
Ensembl chrNW_004936569:1,918,961...1,923,724

G

CCR4-NOT transcription complex subunit 9

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

NCBI chrNW_004936569:1,023,057...1,048,968
Ensembl chrNW_004936569:1,022,979...1,049,136

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chrNW_004936569:1,587,164...1,592,857
Ensembl chrNW_004936569:1,586,286...1,592,857

G

crystallin beta A2

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

NCBI chrNW_004936569:1,410,634...1,413,735
Ensembl chrNW_004936569:1,410,450...1,413,888

G

CTD small phosphatase 1

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

NCBI chrNW_004936569:901,357...905,149
Ensembl chrNW_004936569:900,439...903,622

G

C-X-C motif chemokine receptor 1

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

NCBI chrNW_004936569:715,129...716,187
Ensembl chrNW_004936569:715,129...716,181

G

desmin

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

NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chrNW_004936569:1,689,926...1,697,179
Ensembl chrNW_004936569:1,689,507...1,698,954

G

aspartyl aminopeptidase

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

NCBI chrNW_004936569:1,770,958...1,780,224
Ensembl chrNW_004936569:1,770,936...1,780,507

G

FEV transcription factor, ETS family member

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

NCBI chrNW_004936569:1,402,513...1,408,699
Ensembl chrNW_004936569:1,402,513...1,406,067

G

galactosidase beta 1 like

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

NCBI chrNW_004936569:1,653,482...1,663,978
Ensembl chrNW_004936569:1,648,673...1,663,956

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_004936569:1,881,975...1,889,179
Ensembl chrNW_004936569:1,881,774...1,889,932

G

G protein-coupled bile acid receptor 1

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

NCBI chrNW_004936569:792,393...794,764
Ensembl chrNW_004936569:793,426...794,421

G

Indian hedgehog signaling molecule

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

NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568

G

mitochondrial chaperone BCS1

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

NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708

G

sterol 26-hydroxylase, mitochondrial

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

NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589

G

non-homologous end joining factor 1

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

NCBI chrNW_004936569:1,494,783...1,578,587
Ensembl chrNW_004936569:1,495,446...1,578,590

G

obscurin like cytoskeletal adaptor 1

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

NCBI chrNW_004936569:1,930,189...1,949,735
Ensembl chrNW_004936569:1,929,069...1,949,708

G

phospholipase C delta 4

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

NCBI chrNW_004936569:1,058,092...1,097,662
Ensembl chrNW_004936569:1,058,611...1,099,577

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chrNW_004936569:799,963...865,462
Ensembl chrNW_004936569:799,926...865,700

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chrNW_004936569:1,258,678...1,266,925
Ensembl chrNW_004936569:1,259,105...1,266,925

G

protein tyrosine phosphatase receptor type N

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

NCBI chrNW_004936569:1,698,718...1,717,639
Ensembl chrNW_004936569:1,696,059...1,717,744

G

regulated endocrine specific protein 18

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

NCBI chrNW_004936569:1,731,756...1,737,679

G

reticulophagy regulator family member 2

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

NCBI chrNW_004936569:1,593,091...1,599,745
Ensembl chrNW_004936569:1,593,085...1,599,437

G

ring finger protein 25

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

NCBI chrNW_004936569:1,109,279...1,115,736
Ensembl chrNW_004936569:1,108,207...1,115,949

G

solute carrier family 11 member 1

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

NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977

G

solute carrier family 23 member 3

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

NCBI chrNW_004936569:1,578,977...1,585,903
Ensembl chrNW_004936569:1,578,993...1,585,454

G

striated muscle enriched protein kinase

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

NCBI chrNW_004936569:1,821,125...1,877,006
Ensembl chrNW_004936569:1,821,143...1,876,156

G

serine/threonine kinase 16

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

NCBI chrNW_004936569:1,664,031...1,667,648
Ensembl chrNW_004936569:1,663,634...1,668,521

G

serine/threonine kinase 36

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

NCBI chrNW_004936569:1,115,790...1,143,450
Ensembl chrNW_004936569:1,115,768...1,143,370

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chrNW_004936569:803,154...820,000
Ensembl chrNW_004936569:800,760...820,271

G

transmembrane protein 198

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

NCBI chrNW_004936569:1,923,924...1,930,058
Ensembl chrNW_004936569:1,924,002...1,930,058

G

tubulin tyrosine ligase like 4

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

NCBI chrNW_004936569:1,153,376...1,201,704
Ensembl chrNW_004936569:1,153,447...1,194,269

G

tubulin alpha 4a

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

NCBI chrNW_004936569:1,668,265...1,672,532
Ensembl chrNW_004936569:1,668,878...1,672,514

G

ubiquitin specific peptidase 37

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

NCBI chrNW_004936569:939,147...1,022,920
Ensembl chrNW_004936569:943,760...1,022,956

G

villin 1

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

NCBI chrNW_004936569:914,511...938,481
Ensembl chrNW_004936569:914,512...938,608

G

Wnt family member 10A

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

NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931

G

Wnt family member 6

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

NCBI chrNW_004936569:1,290,061...1,302,672
Ensembl chrNW_004936569:1,290,052...1,302,691

G

zinc finger AN1-type containing 2B

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

NCBI chrNW_004936569:1,625,712...1,628,533
Ensembl chrNW_004936569:1,625,374...1,632,642

G

zinc finger protein 142

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

NCBI chrNW_004936569:1,084,981...1,103,932

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_004936470:4,964,526...5,011,808
Ensembl chrNW_004936470:4,965,332...5,011,702

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004936659:1,598,252...1,642,615
Ensembl chrNW_004936659:1,598,177...1,600,262

G

angiotensin II receptor type 1

treatment

associated with periodontal disease

NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985

G

angiotensin II receptor type 2

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570

G

alkaline phosphatase, biomineralization associated

treatment

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

PMID:20630305 PMID:33364953

NCBI chrNW_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989

G

cathepsin K

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004936580:1,022,762...1,038,020
Ensembl chrNW_004936580:1,022,762...1,034,984

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 1 beta

treatment

associated with periodontal disease

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

interleukin 6

treatment

associated with periodontal disease

NCBI chrNW_004936549:7,015,595...7,016,246

G

integrin subunit alpha V

treatment

associated with periodontal disease

NCBI chrNW_004936506:10,750,116...10,839,018
Ensembl chrNW_004936506:10,750,101...10,839,303

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

osteoclast associated Ig-like receptor

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004936994:226,318...232,143
Ensembl chrNW_004936994:226,424...312,143

G

poly(ADP-ribose) polymerase 1

NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642

G

peroxisome proliferator activated receptor gamma

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

TNF receptor superfamily member 11a

treatment

associated with periodontal disease

NCBI chrNW_004936497:2,944,841...2,986,113
Ensembl chrNW_004936497:2,945,010...2,995,207

G

TNF receptor superfamily member 11b

treatment

associated with periodontal disease

NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

PMID:19249596 PMID:33364953

NCBI chrNW_004936747:1,255,803...1,288,252
Ensembl chrNW_004936747:1,255,803...1,288,252

G

vitronectin

treatment

associated with periodontal disease

NCBI chrNW_004936538:4,522,275...4,525,245
Ensembl chrNW_004936538:4,522,074...4,525,336

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_004936889:510,667...515,831
Ensembl chrNW_004936889:510,667...515,075

G

amelogenin X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936470:1,169,906...1,174,166
Ensembl chrNW_004936470:1,169,906...1,179,604

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936470:1,048,145...1,501,970
Ensembl chrNW_004936470:1,049,461...1,500,877

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004936771:747,487...1,036,546
Ensembl chrNW_004936771:747,496...1,036,122

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936543:7,860,432...7,864,050
Ensembl chrNW_004936543:7,860,448...7,863,983

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chrNW_004936529:348,938...381,701

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131

G

enamelin

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936598:4,118,031...4,132,342
Ensembl chrNW_004936598:4,118,579...4,132,692

G

FAM20C golgi associated secretory pathway kinase

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

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

RGD:11560487 RGD:11560491

NCBI chrNW_004936754:596,878...649,585
Ensembl chrNW_004936754:596,872...653,098

G

family with sequence similarity 83 member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chrNW_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936488:18,257,765...18,278,530
Ensembl chrNW_004936488:18,259,866...18,260,993

G

kallikrein related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936889:583,259...586,412
Ensembl chrNW_004936889:583,302...586,412

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chrNW_004936481:6,588,797...6,647,167
Ensembl chrNW_004936481:6,588,865...6,647,188

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004936543:7,900,319...7,922,529
Ensembl chrNW_004936543:7,900,283...7,922,541

G

RELT TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chrNW_004936498:2,577,389...2,596,690
Ensembl chrNW_004936498:2,589,291...2,595,207

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004936733:515,546...639,699
Ensembl chrNW_004936733:515,510...639,705

G

Sp6 transcription factor

NCBI chrNW_004936490:13,456,393...13,466,813
Ensembl chrNW_004936490:13,456,393...13,465,684

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415

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_004936551:5,310,426...5,352,883
Ensembl chrNW_004936551:5,310,426...5,352,883

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_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415

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_004936598:400,214...407,597

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_004936733:515,546...639,699
Ensembl chrNW_004936733:515,510...639,705

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_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173

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_004936557:3,429,488...3,487,995
Ensembl chrNW_004936557:3,450,247...3,487,954

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_004936600:2,084,854...2,133,028
Ensembl chrNW_004936600:2,091,150...2,132,173

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131

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_004936598:4,118,031...4,132,342
Ensembl chrNW_004936598:4,118,579...4,132,692

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_004936598:4,118,031...4,132,342
Ensembl chrNW_004936598:4,118,579...4,132,692

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chrNW_004936551:5,310,426...5,352,883
Ensembl chrNW_004936551:5,310,426...5,352,883

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415

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_004936470:1,169,906...1,174,166
Ensembl chrNW_004936470:1,169,906...1,179,604

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_004936470:1,048,145...1,501,970
Ensembl chrNW_004936470:1,049,461...1,500,877

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_004936598:4,154,801...4,166,565
Ensembl chrNW_004936598:4,155,061...4,167,497

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_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154

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_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709

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_004936469:18,581,855...18,650,109
Ensembl chrNW_004936469:18,581,840...18,650,123

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_004936889:510,667...515,831
Ensembl chrNW_004936889:510,667...515,075

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_004936490:13,456,393...13,466,813
Ensembl chrNW_004936490:13,456,393...13,465,684

amelogenesis imperfecta type 2A1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kallikrein related peptidase 4

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

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

NCBI chrNW_004936889:583,259...586,412
Ensembl chrNW_004936889:583,302...586,412

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_004936488:18,257,765...18,278,530
Ensembl chrNW_004936488:18,259,866...18,260,993

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_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895

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_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chrNW_004936598:4,204,094...4,210,492
Ensembl chrNW_004936598:4,203,255...4,215,567

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_004936498:2,577,389...2,596,690
Ensembl chrNW_004936498:2,589,291...2,595,207

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_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131

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_004936531:8,385,919...8,418,753
Ensembl chrNW_004936531:8,385,743...8,420,836

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_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729

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_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729

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_004936568:530,314...662,524
Ensembl chrNW_004936568:530,188...663,520

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chrNW_004936569:1,930,189...1,949,735
Ensembl chrNW_004936569:1,929,069...1,949,708

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289

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_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

NCBI chrNW_004936787:307,290...309,963
Ensembl chrNW_004936787:306,941...310,166

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_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410

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_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:7,354,273...7,358,328
Ensembl chrNW_004936475:7,354,642...7,358,553

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_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992

G

keratinocyte differentiation factor 1

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

NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

msh homeobox 1

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

NCBI chrNW_004936477:17,406,551...17,413,615
Ensembl chrNW_004936477:17,409,191...17,412,919

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_004936494:10,657,902...10,673,176
Ensembl chrNW_004936494:10,658,077...10,672,251

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_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

NCBI chrNW_004936494:10,675,534...11,157,829
Ensembl chrNW_004936494:10,676,235...11,156,083

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_004936543:7,324,748...7,329,774

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_004936563:1,713,294...1,732,431

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_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

NCBI chrNW_004936506:1,678,069...1,687,632

G

interleukin 10

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

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

methylenetetrahydrofolate reductase

severity

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

NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193

G

transforming growth factor beta 1

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

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

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_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898

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_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540

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_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617

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_004936828:827,660...839,088
Ensembl chrNW_004936828:828,837...838,720

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chrNW_004936558:5,998,760...6,288,666
Ensembl chrNW_004936558:5,998,754...6,289,867

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_004936602:3,135,790...3,140,622

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_004936529:1,831,639...1,837,314
Ensembl chrNW_004936529:1,831,254...1,837,314

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chrNW_004936529:1,834,308...1,837,248
Ensembl chrNW_004936529:1,834,349...1,837,182

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_004936555:4,285,269...4,307,715
Ensembl chrNW_004936555:4,285,269...4,310,858

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_004936665:1,520,800...1,654,388
Ensembl chrNW_004936665:1,520,800...1,653,816

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_004936665:1,654,045...1,690,955
Ensembl chrNW_004936665:1,668,311...1,690,918

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_004936905:458,062...463,359
Ensembl chrNW_004936905:458,298...463,346

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_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987

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_004936512:1,165,159...1,270,138
Ensembl chrNW_004936512:1,163,615...1,270,255

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_004936796:630,307...675,157
Ensembl chrNW_004936796:630,756...674,279

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_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257

G

ankyrin 2

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

NCBI chrNW_004936563:3,520,195...4,170,716
Ensembl chrNW_004936563:3,520,193...4,171,362

G

adaptor related protein complex 1 associated regulatory protein

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

NCBI chrNW_004936563:3,108,242...3,144,957
Ensembl chrNW_004936563:3,108,197...3,144,980

G

family with sequence similarity 241 member A

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

NCBI chrNW_004936563:3,011,476...3,048,477
Ensembl chrNW_004936563:3,011,502...3,047,875

G

La ribonucleoprotein 7, transcriptional regulator

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

NCBI chrNW_004936563:3,455,205...3,474,955
Ensembl chrNW_004936563:3,455,045...3,475,417

G

neurogenin 2

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

NCBI chrNW_004936563:3,348,052...3,350,623
Ensembl chrNW_004936563:3,348,052...3,350,623

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_004936563:1,713,294...1,732,431

G

PR/SET domain 5

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

NCBI chrNW_004936662:388,279...524,803
Ensembl chrNW_004936662:390,894...516,485

G

TRAF interacting protein with forkhead associated domain

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

NCBI chrNW_004936563:3,151,515...3,159,071
Ensembl chrNW_004936563:3,152,049...3,158,999

G

zinc finger GRF-type containing 1

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

NCBI chrNW_004936563:3,372,603...3,455,123

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_004936707:1,784,338...1,913,401
Ensembl chrNW_004936707:1,854,444...1,913,460

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_004936524:6,619,128...6,620,278
Ensembl chrNW_004936524:6,619,128...6,620,278

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_004936745:2,067,272...2,067,948
Ensembl chrNW_004936745:2,028,286...2,067,948

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_004936500:2,017,519...2,038,777
Ensembl chrNW_004936500:2,017,518...2,039,108

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_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194

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_004936664:3,610,004...3,629,850
Ensembl chrNW_004936664:3,609,451...3,628,337

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_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427

G

adenosine deaminase 2

ClinVar Annotator: match by term: Behcet's syndrome

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

NCBI chrNW_004936807:232,851...262,593

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144

G

catalase

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

PMID:12074830 PMID:17206395

NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422

G

CD40 ligand

protein:increased expression:plasma

NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chrNW_004936803:1,025,047...1,229,396
Ensembl chrNW_004936803:1,024,779...1,227,516

G

complement factor B

NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215

G

carboxypeptidase B2

NCBI chrNW_004936857:577,067...609,855
Ensembl chrNW_004936857:577,585...626,267

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606

G

cytotoxic T-lymphocyte associated protein 4

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

NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936523:6,661,119...6,686,988
Ensembl chrNW_004936523:6,661,315...6,690,425

G

coagulation factor V

no_association

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

NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

NCBI chrNW_004936735:209,369...234,582

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311

G

intercellular adhesion molecule 1

susceptibility
no_association

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

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

RGD:8158115 RGD:8158123 RGD:8547575

NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174

G

interferon gamma

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

PMID:2154346 PMID:21334264

RGD:8142356 RGD:8142377

NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813

G

interleukin 10

onset
disease_progression
treatment
susceptibility

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_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 17A

protein:increased expression:plasma (human)

NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008

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_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chrNW_004936713:1,038,985...1,075,770
Ensembl chrNW_004936713:1,038,877...1,075,811

G

interleukin 1 beta

protein:increased expression:serum

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

interleukin 1 receptor antagonist

protein:increased expression:serum

NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340

G

interleukin 2

DNA:polymorphism:promoter (human)

NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625

G

interleukin 21 receptor

NCBI chrNW_004936501:11,100,170...11,112,112
Ensembl chrNW_004936501:11,100,170...11,110,744

G

interleukin 23 receptor

susceptibility

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

PMID:20375120 PMID:22483685

RGD:8549550 RGD:8549565

NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005

G

interleukin 6

protein:increased secretion:monocyte:

NCBI chrNW_004936549:7,015,595...7,016,246

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_004936641:2,608,109...2,622,446
Ensembl chrNW_004936641:2,608,100...2,622,409

G

integrin subunit alpha 2

susceptibility

NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:12,921,509...12,966,791
Ensembl chrNW_004936501:12,922,642...12,966,663

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chrNW_004936543:8,460,526...8,508,524
Ensembl chrNW_004936543:8,461,307...8,508,524

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936778:1,286,475...1,311,184
Ensembl chrNW_004936778:1,286,341...1,311,194

G

low affinity immunoglobulin gamma Fc region receptor III-A

susceptibility

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

NCBI chrNW_004937131:42,523...49,533

G

HLA class II histocompatibility antigen, DM beta chain

no_association

NCBI chrNW_004936476:25,846,653...25,852,006
Ensembl chrNW_004936476:25,846,630...25,851,409

G

HLA class II histocompatibility antigen, DM alpha chain

no_association

NCBI chrNW_004936476:25,836,163...25,840,191
Ensembl chrNW_004936476:25,836,142...25,840,197

G

C-C chemokine receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186

G

interleukin-8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353

G

angiotensin-converting enzyme

no_association
susceptibility

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

PMID:15045629 PMID:15961928

RGD:7829810 RGD:8142349

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

cytochrome P450 1A1

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

NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332

G

7-dehydrocholesterol reductase

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

NCBI chrNW_004936794:1,432,379...1,468,966

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chrNW_004936694:970,706...980,605

G

matrix metallopeptidase 2

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

PMID:17949555 PMID:22116092

RGD:8547820 RGD:8657044

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

nucleotide binding oligomerization domain containing 2

no_association
susceptibility

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

PMID:15515785 PMID:19748964 PMID:28492532

RGD:13204711 RGD:8158059

NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982

G

nitric oxide synthase 3

susceptibility
no_association

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

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

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

NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534

G

paraoxonase 1

protein:decreased activity:serum (human)

NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591

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_004936471:35,272,263...35,294,942
Ensembl chrNW_004936471:35,272,137...35,313,154

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_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958

G

serpin family E member 1

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

PMID:12074830 PMID:18341631

NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977

G

superoxide dismutase 1

protein:increased activity:serum (human)

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

signal transducer and activator of transcription 3

no_association

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

PMID:22205606 PMID:23127549

RGD:6483021 RGD:8694309

NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402

G

signal transducer and activator of transcription 4

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

PMID:20438790 PMID:23001997 PMID:23291587

RGD:8661713 RGD:8661718

NCBI chrNW_004936506:7,091,982...7,185,938
Ensembl chrNW_004936506:7,095,009...7,184,689

G

transforming growth factor beta 1

DNA:polymorphism:promoter:exon (human)

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

toll like receptor 2

susceptibility
no_association

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

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

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

NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788

G

toll like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

NCBI chrNW_004936554:3,370,766...3,388,125
Ensembl chrNW_004936554:3,369,469...3,385,907

G

toll like receptor 4

no_association
susceptibility

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

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

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

NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095

G

tumor necrosis factor

no_association

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

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_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Behcet disease

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

NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921

G

vitamin D receptor

no_association

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

NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109

G

vascular endothelial growth factor A

protein:increased expression:serum

NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673

G

vimentin

NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182

G

von Willebrand factor

NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754

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_004936478:19,669,727...19,673,355
Ensembl chrNW_004936478:19,669,506...19,673,398

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_004936512:11,160,343...11,166,616

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chrNW_004936548:6,936,674...7,171,035
Ensembl chrNW_004936548:6,937,532...7,038,210

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chrNW_004936513:7,218,583...7,221,085

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_004936481:19,586,870...19,609,043
Ensembl chrNW_004936481:19,586,870...19,611,933

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_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444

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_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203

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_004936581:4,750,845...4,802,262
Ensembl chrNW_004936581:4,750,947...4,802,289

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_004936682:1,738,615...1,764,216

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_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936599:3,918,325...3,928,415
Ensembl chrNW_004936599:3,918,469...3,928,421

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_004936695:861,324...919,368
Ensembl chrNW_004936695:861,550...919,368

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_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456

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_004936669:3,404,729...3,413,123
Ensembl chrNW_004936669:3,404,704...3,413,136

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_004936669:3,404,729...3,413,123
Ensembl chrNW_004936669:3,404,704...3,413,136

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

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

NCBI chrNW_004936476:15,863,807...15,864,357
Ensembl chrNW_004936476:15,863,807...15,864,161

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_004936469:33,632,885...33,805,158
Ensembl chrNW_004936469:33,632,892...33,734,433

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_004936472:14,993,579...15,016,270
Ensembl chrNW_004936472:14,993,710...15,014,408

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_004936539:290,429...404,928
Ensembl chrNW_004936539:290,416...404,881

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_004936648:395,526...546,705
Ensembl chrNW_004936648:395,524...546,729

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_004936621:265,834...329,255
Ensembl chrNW_004936621:265,829...328,040

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_004936478:19,820,092...19,882,358
Ensembl chrNW_004936478:19,819,675...19,882,343

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chrNW_004936478:19,883,992...19,893,917
Ensembl chrNW_004936478:19,884,067...19,893,673

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_004936593:4,650,624...4,693,387
Ensembl chrNW_004936593:4,651,114...4,692,534

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_004936593:4,569,183...4,649,901
Ensembl chrNW_004936593:4,570,987...4,603,130

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_004936485:16,142,231...16,161,761
Ensembl chrNW_004936485:16,157,485...16,163,698

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_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,416,505...22,417,543
Ensembl chrNW_004936477:22,416,539...22,417,543

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,315,827...22,338,488
Ensembl chrNW_004936477:22,316,018...22,338,475

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,032,712...22,055,160
Ensembl chrNW_004936477:22,032,664...22,055,187

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,225,624...22,238,825
Ensembl chrNW_004936477:22,225,618...22,238,803

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:20,874,889...20,964,328
Ensembl chrNW_004936477:20,871,241...20,964,352

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,688,240...21,719,612
Ensembl chrNW_004936477:21,692,283...21,719,860

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,177,473...22,189,554
Ensembl chrNW_004936477:22,177,457...22,189,655

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,254,109...22,300,827
Ensembl chrNW_004936477:22,253,471...22,300,932

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,250,707...21,265,997
Ensembl chrNW_004936477:21,241,328...21,265,988

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:20,291,791...20,298,764
Ensembl chrNW_004936477:20,291,852...20,298,764

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,200,471...22,215,473
Ensembl chrNW_004936477:22,200,474...22,215,077

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,550,104...21,589,662
Ensembl chrNW_004936477:21,550,013...21,587,007

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:20,443,101...20,577,167
Ensembl chrNW_004936477:20,443,113...20,577,071
Ensembl chrNW_004936477:20,443,113...20,577,071

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,959,465...21,996,395
Ensembl chrNW_004936477:21,959,465...21,996,937

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:20,691,433...20,694,513

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:20,431,866...20,438,330
Ensembl chrNW_004936477:20,431,861...20,440,848

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,233,026...21,246,202
Ensembl chrNW_004936477:21,235,288...21,246,202

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,410,303...22,416,940
Ensembl chrNW_004936477:22,410,270...22,413,184

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,397,729...21,405,098

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,442,493...21,459,999
Ensembl chrNW_004936477:21,442,380...21,464,005

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,909,542...21,910,599

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:20,668,817...20,689,931
Ensembl chrNW_004936477:20,668,688...20,691,694

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,460,442...21,531,563
Ensembl chrNW_004936477:21,460,478...21,534,909

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,349,166...22,373,256
Ensembl chrNW_004936477:22,349,171...22,373,393

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185

G

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,524,227...22,563,536
Ensembl chrNW_004936477:22,523,729...22,563,708

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,268,236...21,396,526
Ensembl chrNW_004936477:21,268,244...21,396,256

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:20,300,528...20,388,212
Ensembl chrNW_004936477:20,300,521...20,388,221
Ensembl chrNW_004936477:20,300,521...20,388,221

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,122,854...22,173,324

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,025,040...21,055,821

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_004936477:20,774,386...20,794,958
Ensembl chrNW_004936477:20,773,016...20,807,722

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,672,143...21,680,899
Ensembl chrNW_004936477:21,671,842...21,680,915

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,209,445...22,213,592
Ensembl chrNW_004936477:22,208,451...22,213,592

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,403,186...22,410,563
Ensembl chrNW_004936477:22,403,239...22,409,878

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,087,450...22,093,677
Ensembl chrNW_004936477:22,087,394...22,093,723

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,648,958...21,665,855
Ensembl chrNW_004936477:21,648,716...21,665,625

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,665,955...21,670,667
Ensembl chrNW_004936477:21,665,275...21,670,668

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:22,239,093...22,254,028
Ensembl chrNW_004936477:22,239,093...22,254,439

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:20,810,188...20,841,537
Ensembl chrNW_004936477:20,834,849...20,841,535

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,918,091...21,950,895
Ensembl chrNW_004936477:21,918,062...21,950,904

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004936477:21,103,336...21,225,497
Ensembl chrNW_004936477:21,103,323...21,224,468

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_004936481:711,356...1,067,856
Ensembl chrNW_004936481:713,539...1,068,237

G

C-X-C motif chemokine ligand 12

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

PMID:20731768 PMID:21382035

NCBI chrNW_004936617:4,224,131...4,239,080
Ensembl chrNW_004936617:4,224,131...4,238,796

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues

NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459

G

DAB2 interacting protein

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

NCBI chrNW_004936487:10,056,809...10,243,021
Ensembl chrNW_004936487:10,145,278...10,243,174

G

desmocollin 1

mRNA:decreased expression:gingival tissues

NCBI chrNW_004936682:2,013,414...2,040,148
Ensembl chrNW_004936682:2,013,414...2,040,148

G

desmoglein 1

mRNA:decreased expression:gingival tissues

NCBI chrNW_004936682:1,854,637...1,889,426
Ensembl chrNW_004936682:1,853,594...1,889,488

G

estrogen receptor 1

no_association

DNA:polymorphism

NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171

G

interleukin 10

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

NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502

G

interleukin 1 receptor like 1

mRNA:increased expression:gingiva

NCBI chrNW_004936713:1,020,969...1,035,012
Ensembl chrNW_004936713:1,021,044...1,035,039

G

interleukin 33

mRNA, protein:increased expression:gingiva

NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues

NCBI chrNW_004936778:1,286,475...1,311,184
Ensembl chrNW_004936778:1,286,341...1,311,194

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

NCBI chrNW_004936484:18,186,184...18,221,304
Ensembl chrNW_004936484:18,186,144...18,220,938

G

matrix metallopeptidase 1

severity
no_association

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

PMID:12622858 PMID:15312099 PMID:22401717

RGD:7206856 RGD:7207045 RGD:7207046

NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857

G

matrix metallopeptidase 2

treatment

associated with Atherosclerosis
mRNA:increased expression:gingival tissues

PMID:21382035 PMID:24820783

RGD:13207324 RGD:6480655

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

nestin

mRNA:decreased expression:gingival tissues

NCBI chrNW_004936580:5,837,949...5,847,499
Ensembl chrNW_004936580:5,837,936...5,847,020

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues

NCBI chrNW_004936492:3,726,375...3,737,961
Ensembl chrNW_004936492:3,726,313...3,736,905

G

receptor interacting serine/threonine kinase 3

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

NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839

G

toll like receptor 2

severity

protein:increased expression:gingiva:

NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788

G

toll like receptor 3

severity

protein:increased expression:gingiva:

NCBI chrNW_004936554:3,370,766...3,388,125
Ensembl chrNW_004936554:3,369,469...3,385,907

G

toll like receptor 4

severity

protein:increased expression:gingiva:

NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936747:1,255,803...1,288,252
Ensembl chrNW_004936747:1,255,803...1,288,252

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109

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_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527

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_004936512:1,942,902...2,088,122
Ensembl chrNW_004936512:1,943,196...2,088,122

G

Rho GTPase activating protein 29

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

NCBI chrNW_004936537:4,886,924...4,940,466

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_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468

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_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203

G

catenin delta 1

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

PMID:25741868 PMID:29805042

NCBI chrNW_004936581:4,750,845...4,802,262
Ensembl chrNW_004936581:4,750,947...4,802,289

G

epithelial splicing regulatory protein 2

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

NCBI chrNW_004936475:18,557,840...18,564,461
Ensembl chrNW_004936475:18,557,840...18,564,473

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

NCBI chrNW_004936504:11,590,687...11,684,410
Ensembl chrNW_004936504:11,590,637...11,685,194

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936471:11,636,733...11,692,782
Ensembl chrNW_004936471:11,635,876...11,693,821

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936720:282,291...316,629
Ensembl chrNW_004936720:279,521...316,674

G

fibroblast growth factor receptor 1

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

PMID:17963255 PMID:24613087

NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296

G

growth differentiation factor 6

NCBI chrNW_004936470:46,361,528...46,379,576
Ensembl chrNW_004936470:46,361,451...46,377,594

G

interferon regulatory factor 6

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936557:3,292,927...3,309,002
Ensembl chrNW_004936557:3,292,873...3,311,369

G

kinesin family member 7

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

NCBI chrNW_004936483:15,430,735...15,450,872
Ensembl chrNW_004936483:15,431,470...15,449,067

G

S-methylmethionine--homocysteine S-methyltransferase BHMT2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936549:6,900,075...6,914,217
Ensembl chrNW_004936549:6,899,948...6,914,263

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936561:1,007,273...1,010,548
Ensembl chrNW_004936561:1,007,647...1,008,618

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

NCBI chrNW_004936477:17,406,551...17,413,615
Ensembl chrNW_004936477:17,409,191...17,412,919

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_004936495:8,100,977...8,170,244
Ensembl chrNW_004936495:8,100,912...8,171,800

G

methylenetetrahydrofolate reductase

susceptibility

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

PMID:16470725 PMID:27387868

NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193

G

methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936471:37,910,856...37,964,655
Ensembl chrNW_004936471:37,902,554...37,964,812

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965

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_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344

G

noggin

susceptibility

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

PMID:25339627 PMID:25704602

RGD:11251786 RGD:12801482

NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534

G

netrin 1

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

NCBI chrNW_004936595:2,146,371...2,323,346
Ensembl chrNW_004936595:2,146,366...2,323,399

G

pleckstrin homology domain containing A5

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

NCBI chrNW_004936548:6,936,674...7,171,035
Ensembl chrNW_004936548:6,937,532...7,038,210

G

pleckstrin homology domain containing A7

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

NCBI chrNW_004936528:2,093,233...2,219,622
Ensembl chrNW_004936528:2,092,746...2,218,870

G

protein O-mannosyltransferase 1

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

NCBI chrNW_004936487:18,249,472...18,267,875
Ensembl chrNW_004936487:18,249,472...18,267,256

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476

G

syndecan 2

NCBI chrNW_004936470:45,967,816...46,074,820
Ensembl chrNW_004936470:45,967,303...46,074,812

G

solute carrier family 19 member 1

susceptibility

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

PMID:18797703 PMID:21254359

NCBI chrNW_004936778:823,376...846,843
Ensembl chrNW_004936778:829,550...848,833

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936511:1,452,421...1,458,031
Ensembl chrNW_004936511:1,452,807...1,458,031

G

small ubiquitin like modifier 1

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

NCBI chrNW_004936726:1,402,977...1,413,974
Ensembl chrNW_004936726:1,399,050...1,429,205

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936904:97,535...113,886
Ensembl chrNW_004936904:95,542...113,985

G

tumor protein p63

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

NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936550:33,797...42,233
Ensembl chrNW_004936550:34,048...41,840

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_004936529:1,845,445...1,851,106
Ensembl chrNW_004936529:1,845,763...1,851,252

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_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729

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_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344

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_004936635:3,465,473...3,482,311
Ensembl chrNW_004936635:3,478,598...3,482,008

G

basonuclin zinc finger protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936771:747,487...1,036,546
Ensembl chrNW_004936771:747,496...1,036,122

G

calcium/calmodulin dependent serine protein kinase

DNA:insertion
CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492

G

core-binding factor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:17,537,273...17,589,383
Ensembl chrNW_004936475:17,537,236...17,589,330

G

cell division cycle 42

NCBI chrNW_004936474:7,556,765...7,598,687

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194

G

collagen type XI alpha 2 chain

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

PMID:20672350 PMID:22112025

RGD:12436724 RGD:12904711

NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344

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_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853

G

discs large MAGUK scaffold protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936833:551,989...843,064
Ensembl chrNW_004936833:551,799...844,121

G

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Cleft palate

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004936546:7,370,180...7,681,835
Ensembl chrNW_004936546:7,370,381...7,681,020

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936563:1,058,803...1,181,393

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936471:11,636,733...11,692,782
Ensembl chrNW_004936471:11,635,876...11,693,821

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936720:282,291...316,629
Ensembl chrNW_004936720:279,521...316,674

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

PMID:17963255 PMID:29526646

NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296

G

filamin A

ClinVar Annotator: match by term: Cleft palate

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

NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201

G

filamin B

susceptibility

DNA:SNPs::

NCBI chrNW_004936473:8,268,326...8,413,955
Ensembl chrNW_004936473:8,268,496...8,411,975

G

frizzled class receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936498:14,657,641...14,666,853
Ensembl chrNW_004936498:14,662,659...14,666,883

G

GATA binding protein 6

protein:decreased expression:secondary palatal shelf (mouse)

NCBI chrNW_004936550:1,814,336...1,844