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

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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 (1303)

Stomatognathic Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,358,314...4,361,863

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924

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 chr10:124,889,954...124,953,135
Ensembl chr10:124,890,134...124,890,613

Abruzzo-Erickson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

T-box transcription factor 22

ClinVar Annotator: match by term: Abruzzo-Erickson syndrome

PMID:839509 PMID:22784330 PMID:25741868

NCBI chr X:68,969,570...68,991,933
Ensembl chr X:68,978,310...68,987,228

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

NCBI chr11:49,424,469...49,432,082

G

lamin A/C

OMIM:200400

NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780

G

major histocompatibility complex, class II, DQ alpha 1

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

PMID:11837716 PMID:24997987

NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871

G

nitric oxide synthase 1

OMIM:200400

NCBI chr11:112,642,374...112,673,882

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chr 3:59,357,611...59,362,705
Ensembl chr 3:59,358,394...59,359,341

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

NCBI chr22:3,950,129...3,984,849
Ensembl chr22:3,950,193...3,984,948

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

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 chr21:27,456,553...27,473,196
Ensembl chr21:27,456,259...27,470,728

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr11:41,933,650...42,117,495
Ensembl chr11:42,028,083...42,118,892

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chr25:72,338,190...72,501,999
Ensembl chr25:72,337,590...72,501,988

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr 9:69,190,100...69,382,448
Ensembl chr 9:69,190,045...69,382,069

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chr25:32,269,518...32,334,617
Ensembl chr25:32,281,424...32,334,977

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

ATR serine/threonine kinase

treatment

NCBI chr15:48,048,785...48,173,120
Ensembl chr15:48,048,882...48,173,137

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164

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 chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chr14:46,453,102...46,553,802

G

BCL6 corepressor

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr X:37,191,242...37,319,966
Ensembl chr X:37,192,874...37,319,782

G

BCL6 corepressor like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:105,238,616...105,314,326
Ensembl chr X:105,240,043...105,314,553

G

BRCA1 DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chr16:63,162,827...63,243,928

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,261,796...32,323,528
Ensembl chr19:32,261,833...32,320,706

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:54,428,889...54,435,770
Ensembl chr 5:54,430,197...54,432,509

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chr22:37,212,995...37,518,060
Ensembl chr22:37,343,770...37,517,626

G

CREB binding protein

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:98,118,948...98,330,435
Ensembl chr12:98,118,603...98,330,471

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chr25:17,418,078...17,485,320
Ensembl chr25:17,418,090...17,485,164

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:14,354,752...14,390,630
Ensembl chr 1:14,358,001...14,390,239

G

EF-hand domain family member D1

CTD Direct Evidence: marker/mechanism

NCBI chr10:118,652,927...118,704,717
Ensembl chr10:118,653,349...118,704,701

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

Ensembl chr10:11,475,221...11,479,475

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:62,123,012...62,267,832
Ensembl chr 4:62,182,705...62,268,617

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr11:49,374,333...49,401,801

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Adenocystic carcinoma

NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,389,983...66,401,562

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chr21:82,799,147...83,392,568
Ensembl chr21:83,129,308...83,389,483

G

growth arrest specific 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,201,546...42,376,934

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:71,088,766...71,099,845
Ensembl chr 5:71,089,564...71,099,688

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:102,206,438...102,310,535
Ensembl chr 7:102,238,477...102,303,673

G

H1.4 linker histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chr17:46,099,264...46,100,067
Ensembl chr17:46,099,330...46,099,986

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,385,176...17,396,506
Ensembl chr 6:17,385,175...17,394,319

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

insulin like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:102,469,611...102,503,229
Ensembl chr10:102,469,669...102,503,276

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chr22:18,416,143...18,489,855
Ensembl chr22:18,416,443...18,434,271

G

insulin receptor related receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:7,008,882...7,029,377
Ensembl chr20:7,010,504...7,028,557

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:1,712,382...1,723,284
Ensembl chr 4:1,718,737...1,723,403

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:16,906,724...16,910,194
Ensembl chr 6:16,905,472...16,910,030

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,926,543...45,962,967

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr 9:67,913,062...68,135,555

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:59,692,890...59,888,955
Ensembl chr16:59,747,522...59,890,061

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:39,912,120...40,035,776
Ensembl chr 8:39,911,776...39,962,735

G

lysine demethylase 6A

exacerbates

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

PMID:23685749 PMID:31483290

RGD:150429732 RGD:150429736

NCBI chr X:42,053,272...42,291,013
Ensembl chr X:42,053,336...42,290,526

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,221,769...7,241,230
Ensembl chr16:7,232,426...7,241,040

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:31483290

NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

keratin 15

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,723,180...64,729,589
Ensembl chr16:64,724,364...64,729,581

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830

G

growth arrest-specific protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:91,720,871...91,762,712

G

nuclear factor 1 B-type

CTD Direct Evidence: marker/mechanism

NCBI chr12:65,043,819...65,487,832
Ensembl chr12:65,256,407...65,481,485

G

cadherin-1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:26,383,310...27,057,081
Ensembl chr22:26,384,511...26,645,528

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:69,460,345...70,916,684

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:86,673,649...87,107,768
Ensembl chr 7:86,673,346...86,848,086

G

mitogen-activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:3,848,441...3,881,367
Ensembl chr 6:3,848,401...3,881,412

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chr13:59,989,920...59,995,921
Ensembl chr13:59,989,778...59,995,940

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,336,690...10,410,539
Ensembl chr 1:10,336,639...10,409,951

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr15:19,726,423...20,320,832
Ensembl chr15:20,256,384...20,320,834

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr26:41,215,424...41,381,828
Ensembl chr26:41,218,082...41,311,526

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,532...70,736

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,559,208...32,583,522
Ensembl chr19:32,557,536...32,583,060

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:4,500,848...4,520,830

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:62,440,620...62,489,148
Ensembl chr 8:62,442,204...62,478,819

G

MYC binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:94,017,529...94,027,727
Ensembl chr20:94,017,632...94,029,150

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr14:91,685,376...91,692,091

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,929,091...32,991,240
Ensembl chr 5:32,930,692...32,979,561

G

notch receptor 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:79,140,148...79,309,579
Ensembl chr23:79,141,114...79,304,820

G

neurotrophic receptor tyrosine kinase 3

treatment

NCBI chr29:6,441,824...6,831,029
Ensembl chr29:6,447,256...6,830,526

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr X:45,957,760...45,962,588
Ensembl chr X:45,957,715...45,962,601

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,026,422...13,076,094
Ensembl chr20:13,040,475...13,079,241

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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:43,915,226...44,119,547
Ensembl chr 8:43,914,636...44,119,541

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,507,184...18,801,535

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,408,453...1,424,197

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr22:8,421,178...8,567,221
Ensembl chr22:8,420,960...8,567,201

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chr10:82,901,908...82,952,094
Ensembl chr10:82,899,079...82,952,071

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:48,238,872...48,736,517

G

solute carrier family 3 member 2

disease_progression

NCBI chr 1:11,011,351...11,050,494
Ensembl chr 1:11,008,120...11,050,298

G

solute carrier family 7 member 5

disease_progression

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chr16:65,539,138...65,559,810
Ensembl chr16:65,541,513...65,561,401

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chr X:49,514,652...49,558,490
Ensembl chr X:49,515,061...49,558,447

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:58,610,076...58,643,758

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

NCBI chr14:101,982,551...101,991,305
Ensembl chr14:101,989,895...101,991,220

G

Snf2 related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,386,923...27,428,360
Ensembl chr 5:27,389,572...27,427,953

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 1:117,479,328...117,543,262
Ensembl chr 1:117,480,451...117,542,671

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

tousled like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,521,983...56,688,458
Ensembl chr10:56,523,879...56,592,671

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701

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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

ubiquitin like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:4,592,362...4,642,179
Ensembl chr 6:4,592,919...4,642,445

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr 4:77,581,627...77,692,495
Ensembl chr 4:77,593,449...77,690,616

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chr11:1,571,569...1,689,750
Ensembl chr11:1,674,245...1,690,299

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

NCBI chr 2:50,287,718...50,373,869
Ensembl chr 2:50,288,073...50,373,883

G

zinc finger imprinted 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,249,179...49,269,826

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 chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751

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 chr15:83,861,489...84,126,675

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 chr25:38,950,219...39,340,920
Ensembl chr25:39,147,423...39,340,564

G

C-C motif chemokine ligand 2

susceptibility

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

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-C motif chemokine receptor 2

susceptibility

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

NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728

G

collagen type I alpha 1 chain

DNA:SNP

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

C-reactive protein

protein:increased expression:serum:

NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377

G

cathepsin C

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

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

NCBI chr 1:79,426,556...79,468,464
Ensembl chr 1:79,426,549...79,468,340

G

interleukin 10

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

PMID:28662328 PMID:28868949

RGD:14975139 RGD:14975264

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

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 chr14:5,672,434...5,708,270
Ensembl chr14:5,673,163...5,708,372

G

interleukin 2

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 6

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

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

glutathione S-transferase Mu 1

NCBI chr20:23,854,969...23,861,634

G

periostin

OMIM:170650 | OMIM:608526

NCBI chr 3:16,060,013...16,095,867
Ensembl chr 3:16,059,965...16,095,791

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

NCBI chr21:13,876,099...13,883,546
Ensembl chr21:13,876,099...13,883,462

agnathia-otocephaly complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box H1

OMIM:202650

NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144

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 chr25:58,347,686...58,423,454
Ensembl chr25:58,347,704...58,421,980

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chr 2:87,760,813...87,856,630
Ensembl chr 2:87,761,479...87,857,418

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 chr10:104,145,818...104,151,782
Ensembl chr10:104,146,222...104,151,752

G

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

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

NCBI chr10:105,113,729...105,122,948
Ensembl chr10:105,112,797...105,122,358

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chr10:105,133,136...105,140,439
Ensembl chr10:105,133,216...105,140,141

G

actin related protein 2/3 complex subunit 2

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

NCBI chr10:104,098,275...104,144,043
Ensembl chr10:104,098,402...104,135,791

G

acid sensing ion channel subunit family member 4

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

NCBI chr10:105,406,889...105,433,792

G

autophagy related 9A

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

NCBI chr10:105,123,039...105,133,057
Ensembl chr10:105,124,412...105,131,409

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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

NCBI chr10:104,563,912...104,567,706
Ensembl chr10:104,565,184...104,568,099

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chr10:104,247,501...104,260,281
Ensembl chr10:104,247,899...104,260,240

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chr10:104,858,260...104,860,795
Ensembl chr10:104,858,461...104,859,564

G

cilia and flagella associated protein 65

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

NCBI chr10:104,902,365...104,946,934
Ensembl chr10:104,902,401...104,944,401

G

chondroitin polymerizing factor

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

NCBI chr10:105,433,966...105,438,861
Ensembl chr10:105,432,912...105,438,896

G

CCR4-NOT transcription complex subunit 9

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

NCBI chr10:104,473,215...104,502,321
Ensembl chr10:104,473,216...104,503,007

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chr10:105,080,181...105,086,374
Ensembl chr10:105,080,856...105,085,225

G

crystallin beta A2

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

NCBI chr10:104,889,529...104,893,661
Ensembl chr10:104,889,592...104,892,485

G

CTD small phosphatase 1

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

NCBI chr10:104,291,494...104,298,982
Ensembl chr10:104,293,073...104,299,258

G

C-X-C motif chemokine receptor 1

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

NCBI chr10:104,052,709...104,056,388
Ensembl chr10:104,053,544...104,054,620

G

cytochrome P450 family 27 subfamily A member 1

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

NCBI chr10:104,682,437...104,723,781
Ensembl chr10:104,682,673...104,726,687

G

desmin

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

NCBI chr10:105,312,348...105,320,869

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chr10:105,185,987...105,193,749
Ensembl chr10:105,186,608...105,194,574

G

aspartyl aminopeptidase

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

NCBI chr10:105,266,527...105,294,553
Ensembl chr10:105,265,757...105,282,384

G

FEV transcription factor, ETS family member

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

NCBI chr10:104,879,790...104,886,722
Ensembl chr10:104,880,347...104,883,916

G

galactosidase beta 1 like

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

NCBI chr10:105,140,296...105,149,911
Ensembl chr10:105,140,775...105,148,106

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 chr10:105,393,869...105,401,997
Ensembl chr10:105,393,891...105,402,008

G

G protein-coupled bile acid receptor 1

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

NCBI chr10:104,141,177...104,145,557
Ensembl chr10:104,144,421...104,145,413

G

Indian hedgehog signaling molecule

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

NCBI chr10:104,960,296...104,966,596
Ensembl chr10:104,960,120...104,966,585

G

C-X-C chemokine receptor type 2

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

NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893

G

tubulin alpha-4A chain

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

NCBI chr10:105,154,928...105,159,340
Ensembl chr10:105,153,933...105,158,655

G

non-homologous end joining factor 1

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

NCBI chr10:104,981,313...105,071,828
Ensembl chr10:104,982,380...105,068,999

G

obscurin like cytoskeletal adaptor 1

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

NCBI chr10:105,445,800...105,467,187
Ensembl chr10:105,442,071...105,466,875

G

phospholipase C delta 4

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

NCBI chr10:104,512,156...104,540,555
Ensembl chr10:104,512,678...104,542,531

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chr10:104,152,005...104,227,624
Ensembl chr10:104,152,081...104,229,219

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chr10:104,717,144...104,732,005
Ensembl chr10:104,718,680...104,730,005

G

protein tyrosine phosphatase receptor type N

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

NCBI chr10:105,196,508...105,216,665
Ensembl chr10:105,196,505...105,216,525

G

regulated endocrine specific protein 18

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

NCBI chr10:105,230,482...105,235,907
Ensembl chr10:105,230,560...105,235,766

G

reticulophagy regulator family member 2

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

NCBI chr10:105,086,367...105,091,980
Ensembl chr10:105,086,610...105,090,896

G

ring finger protein 25

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

NCBI chr10:104,568,405...104,575,900
Ensembl chr10:104,568,361...104,575,819

G

solute carrier family 11 member 1

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

NCBI chr10:104,276,553...104,288,466

G

solute carrier family 23 member 3

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

NCBI chr10:105,072,114...105,078,809

G

striated muscle enriched protein kinase

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

NCBI chr10:105,330,171...105,388,657
Ensembl chr10:105,330,171...105,387,810

G

serine/threonine kinase 16

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

NCBI chr10:105,149,953...105,153,553
Ensembl chr10:105,150,421...105,153,693

G

serine/threonine kinase 36

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

NCBI chr10:104,575,944...104,606,923
Ensembl chr10:104,576,666...104,607,946

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chr10:104,155,823...104,174,135
Ensembl chr10:104,155,185...104,163,793

G

transmembrane protein 198

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

NCBI chr10:105,439,006...105,445,667
Ensembl chr10:105,439,176...105,444,927

G

tubulin tyrosine ligase like 4

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

NCBI chr10:104,612,946...104,656,926
Ensembl chr10:104,613,026...104,656,622

G

ubiquitin specific peptidase 37

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

NCBI chr10:104,348,220...104,473,046
Ensembl chr10:104,352,863...104,473,066

G

villin 1

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

NCBI chr10:104,311,048...104,350,846
Ensembl chr10:104,320,074...104,347,289

G

Wnt family member 10A

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

NCBI chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854

G

Wnt family member 6

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

NCBI chr10:104,759,794...104,775,642
Ensembl chr10:104,760,045...104,774,487

G

zinc finger AN1-type containing 2B

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

NCBI chr10:105,110,419...105,113,614
Ensembl chr10:105,110,542...105,115,481

G

zinc finger protein 142

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

NCBI chr10:104,541,268...104,563,625
Ensembl chr10:104,541,698...104,560,696

Alveolar Bone Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

treatment

associated with periodontal disease

NCBI chr X:14,032,231...14,094,163
Ensembl chr X:14,030,233...14,077,785

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

NCBI chr 6:10,488,572...10,493,508
Ensembl chr 6:10,488,460...10,491,519

G

angiotensin II receptor type 1

treatment

associated with periodontal disease

NCBI chr15:41,957,826...42,002,776

G

angiotensin II receptor type 2

treatment

associated with hypertension, periodontal disease

G

alkaline phosphatase, biomineralization associated

treatment

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

PMID:20630305 PMID:33364953

NCBI chr20:111,055,583...111,124,143
Ensembl chr20:111,055,558...111,081,850

G

C-C motif chemokine receptor 2

associated with Periodontitis;

NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728

G

cathepsin K

treatment

associated with hypertension, periodontal disease

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 1 beta

treatment

associated with periodontal disease

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 6

treatment

associated with periodontal disease

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

integrin subunit alpha V

treatment

associated with periodontal disease

NCBI chr10:72,125,710...72,216,757
Ensembl chr10:72,125,962...72,216,809

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

NCBI chr13:87,520,860...87,523,523
Ensembl chr13:87,521,947...87,523,098

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

osteoclast associated Ig-like receptor

treatment

associated with hypertension, periodontal disease

NCBI chr 6:46,772,335...46,777,606

G

poly(ADP-ribose) polymerase 1

NCBI chr25:3,350,798...3,405,040

G

peroxisome proliferator activated receptor gamma

treatment

associated with hypertension, periodontal disease

NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

G

TNF receptor superfamily member 11a

treatment

associated with periodontal disease

NCBI chr18:17,385,251...17,446,442

G

TNF receptor superfamily member 11b

treatment

associated with periodontal disease

NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

PMID:19249596 PMID:33364953

NCBI chr 3:20,717,884...20,761,520
Ensembl chr 3:20,727,592...20,760,408

G

vitronectin

treatment

associated with periodontal disease

NCBI chr16:22,133,903...22,138,077
Ensembl chr16:22,133,138...22,136,815

amelogenesis imperfecta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 6:43,838,103...43,843,715
Ensembl chr 6:43,838,321...43,843,654

G

amelogenin X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr  X:9,927,740...9,934,104
Ensembl chr  X:9,741,594...9,745,776
Ensembl chr  X:9,741,594...9,745,776

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr12:62,775,827...63,233,077
Ensembl chr12:62,777,045...63,223,696

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr21:2,675,522...2,680,406

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095

G

enamelin

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

PMID:25741868 PMID:28492532

NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759

G

family with sequence similarity 83 member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr24:68,998,721...69,027,237
Ensembl chr24:68,998,805...68,999,902

G

kallikrein related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 6:43,921,920...43,935,224
Ensembl chr 6:43,922,052...43,934,253

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753

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 chr28:21,299,235...21,371,603
Ensembl chr28:21,299,213...21,371,577

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr21:2,728,490...2,761,805
Ensembl chr21:2,753,284...2,757,008

G

RELT TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr24:70,068,924...70,242,148
Ensembl chr24:70,179,850...70,239,517

G

Sp6 transcription factor

NCBI chr16:68,243,319...68,276,951
Ensembl chr16:68,247,695...68,248,825

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754

amelogenesis imperfecta hypomaturation type 2A2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 20

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

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

NCBI chr 1:93,946,136...93,997,656
Ensembl chr 1:93,947,582...93,996,815

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 chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754

amelogenesis imperfecta hypomaturation type 2A4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

odontogenesis associated phosphoprotein

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

PMID:22901946 PMID:25741868

NCBI chr 7:24,062,924...24,073,371
Ensembl chr 7:24,063,695...24,072,500

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 chr24:70,068,924...70,242,148
Ensembl chr24:70,179,850...70,239,517

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 chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545

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 chr25:19,805,234...19,856,025
Ensembl chr25:19,807,045...19,846,684

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 chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095

G

enamelin

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B

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

NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759

amelogenesis imperfecta type 1C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enamelin

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC

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

NCBI chr 7:19,138,789...19,158,136
Ensembl chr 7:19,141,116...19,156,759

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr 1:93,946,136...93,997,656
Ensembl chr 1:93,947,582...93,996,815

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr26:29,670,775...29,909,838
Ensembl chr26:29,699,645...29,904,754

amelogenesis imperfecta type 1E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin X-linked

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

PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More...

NCBI chr  X:9,927,740...9,934,104
Ensembl chr  X:9,741,594...9,745,776
Ensembl chr  X:9,741,594...9,745,776

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...

amelogenesis imperfecta type 1F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ameloblastin

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

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

NCBI chr 7:19,107,182...19,121,992
Ensembl chr 7:19,107,299...19,122,285

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 chr16:52,955,411...53,017,263
Ensembl chr16:52,955,714...53,016,909

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 chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493

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 chr10:45,506,355...45,650,979
Ensembl chr10:45,504,987...45,595,543

amelogenesis imperfecta type 1J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

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

PMID:25741868 PMID:27843125 PMID:28513613

NCBI chr 6:43,838,103...43,843,715
Ensembl chr 6:43,838,321...43,843,654

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 chr16:68,243,319...68,276,951
Ensembl chr16:68,247,695...68,248,825

amelogenesis imperfecta type 2A1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kallikrein related peptidase 4

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

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

NCBI chr 6:43,921,920...43,935,224
Ensembl chr 6:43,922,052...43,934,253

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 chr24:68,998,721...69,027,237
Ensembl chr24:68,998,805...68,999,902

amelogenesis imperfecta type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 83 member H

ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta

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

NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394

amelogenesis imperfecta type 3A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 83 member H

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

PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More...

NCBI chr 8:137,941,390...137,949,992
Ensembl chr 8:137,941,754...137,949,394

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chr 7:18,982,101...19,041,207

amelogenesis imperfecta type 3C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELT TNF receptor

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

PMID:28492532 PMID:30506946 PMID:32052416

NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019

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 chr16:43,339,733...43,345,599
Ensembl chr16:43,340,576...43,344,095

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 chr23:41,955,451...41,992,280
Ensembl chr23:41,969,459...41,994,233

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 chr15:83,861,489...84,126,675

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 chr15:83,861,489...84,126,675

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 chr11:67,054,004...67,202,574
Ensembl chr11:67,141,531...67,202,547

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr10:105,445,800...105,467,187
Ensembl chr10:105,442,071...105,466,875

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

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 chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

NCBI chr 9:78,836,803...78,840,158
Ensembl chr 9:78,835,162...78,840,146

G

ectodysplasin A

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

PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More...

NCBI chr X:59,453,157...59,861,555

G

ectodysplasin A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:40,705,061...40,708,749

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 chr 2:33,873,231...33,893,329
Ensembl chr 2:33,873,339...33,893,556

G

keratinocyte differentiation factor 1

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

NCBI chr20:105,803,540...105,814,461
Ensembl chr20:105,811,182...105,816,004

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

msh homeobox 1

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

NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006

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 chr24:13,454,839...13,470,564
Ensembl chr24:13,455,589...13,473,505

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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

NCBI chr24:13,472,050...13,974,991
Ensembl chr24:13,473,395...13,680,176

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 chr28:2,527,395...2,535,152
Ensembl chr28:2,527,020...2,535,147

anterior segment dysgenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeodomain 2

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

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

NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318

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 chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363

G

interleukin 10

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

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

methylenetetrahydrofolate reductase

severity

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

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

transforming growth factor beta 1

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

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

aplasia of lacrimal and salivary glands

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 10

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

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

NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432

Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 3 catalytic subunit alpha

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

PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760

NCBI chr 7:49,149,044...49,478,796
Ensembl chr 7:49,148,933...49,321,013

Au-Kline Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: Au-Kline syndrome

PMID:25741868 PMID:28492532

NCBI chr X:66,843,519...66,985,655
Ensembl chr X:66,843,558...66,985,709

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

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 chr12:94,768,403...94,789,957
Ensembl chr12:94,768,480...94,789,743

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr11:111,245,201...111,563,485
Ensembl chr11:111,243,753...111,563,663

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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428

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 chr22:11,680,189...11,688,678
Ensembl chr22:11,679,585...11,682,972

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

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 chr 8:18,264,210...18,289,951
Ensembl chr 8:18,264,329...18,293,444

autosomal dominant craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANKH inorganic pyrophosphate transport regulator

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

PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More...

NCBI chr 4:14,401,681...14,559,342
Ensembl chr 4:14,408,116...14,559,454

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 chr 4:14,358,556...14,395,539
Ensembl chr 4:14,358,538...14,389,987

Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin sialophosphoprotein

ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1

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

NCBI chr 7:35,993,669...35,999,443

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 chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339

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 chr11:38,696,771...38,819,324
Ensembl chr11:38,694,602...38,718,519

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 chr12:102,172,288...102,397,297

Axenfeld-Rieger syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha kinase 1

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

NCBI chr 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743

G

ankyrin 2

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

NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519

G

adaptor related protein complex 1 associated regulatory protein

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

NCBI chr 7:60,029,576...60,069,199
Ensembl chr 7:60,052,140...60,071,815

G

family with sequence similarity 241 member A

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

NCBI chr 7:59,953,872...59,983,789
Ensembl chr 7:59,953,976...59,984,360

G

La ribonucleoprotein 7, transcriptional regulator

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

NCBI chr 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080

G

neurogenin 2

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

NCBI chr 7:60,296,442...60,299,093
Ensembl chr 7:60,297,586...60,298,404

G

paired like homeodomain 2

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

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

NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318

G

PR/SET domain 5

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

NCBI chr 7:67,985,387...68,207,113
Ensembl chr 7:67,987,359...68,206,893

G

TRAF interacting protein with forkhead associated domain

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

NCBI chr 7:60,074,764...60,085,029
Ensembl chr 7:60,076,999...60,077,556

G

zinc finger GRF-type containing 1

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

NCBI chr 7:60,322,709...60,407,026
Ensembl chr 7:60,322,750...60,403,124

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 chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

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

NCBI chr12:41,555,901...41,559,914
Ensembl chr12:41,557,568...41,558,686

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 chr10:124,889,954...124,953,135
Ensembl chr10:124,890,134...124,890,613

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 chr 2:85,627,307...85,654,079
Ensembl chr 2:85,627,073...85,653,927

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 chr 9:93,219,374...93,263,077
Ensembl chr 9:93,219,383...93,262,700

Basel-Vanagaite-Smirin-Yosef syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 25

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

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

NCBI chr 6:42,979,616...42,994,901
Ensembl chr 6:42,979,674...42,994,865

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 chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704

G

catalase

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

PMID:12074830 PMID:17206395

NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592

G

C-C motif chemokine ligand 2

susceptibility

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

PMID:12712358 PMID:19782713

RGD:8548882 RGD:8549488

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:7,634,205...7,641,380

G

C-C motif chemokine receptor 5

no_association

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

PMID:15009175 PMID:15501397 PMID:17067435

RGD:4892106 RGD:8551814 RGD:8551827

NCBI chr22:7,803,794...7,818,112

G

CD40 ligand

protein:increased expression:plasma

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808

G

complement factor B

Ensembl chr17:40,069,909...40,094,207

G

carboxypeptidase B2

NCBI chr 3:24,108,854...24,161,669
Ensembl chr 3:24,109,416...24,161,408

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377

G

cytotoxic T-lymphocyte associated protein 4

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

NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

cytochrome P450 family 1 subfamily A member 1

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

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

7-dehydrocholesterol reductase

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

NCBI chr 1:3,243,263...3,257,332
Ensembl chr 1:3,243,313...3,257,487

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563

G

coagulation factor V

no_association

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

NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872

G

Fc fragment of IgG receptor IIIa

susceptibility

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

NCBI chr20:2,466,492...2,475,579

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

intercellular adhesion molecule 1

susceptibility
no_association

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

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

RGD:8158115 RGD:8158123 RGD:8547575

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

interferon gamma

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

PMID:2154346 PMID:21334264

RGD:8142356 RGD:8142377

NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

NCBI chr X:128,781,975...128,816,039
Ensembl chr X:128,787,785...128,806,083

G

interleukin 10

disease_progression
onset
treatment
susceptibility

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

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

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

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 17A

protein:increased expression:plasma (human)

NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785

G

interleukin 18

no_association
susceptibility

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

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

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

NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr14:6,026,683...6,067,808
Ensembl chr14:6,026,443...6,066,884

G

interleukin 1 beta

protein:increased expression:serum

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

protein:increased expression:serum

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 2

DNA:polymorphism:promoter (human)

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 21 receptor

NCBI chr 5:25,105,947...25,153,914
Ensembl chr 5:25,106,519...25,153,703

G

interleukin 23 receptor

susceptibility

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

PMID:20375120 PMID:22483685

RGD:8549550 RGD:8549565

NCBI chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024

G

interleukin 4

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

NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258

G

interleukin 6

protein:increased secretion:monocyte:

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

interferon regulatory factor 8

susceptibility

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

PMID:26794091 PMID:28592884 PMID:28881647

RGD:329902077 RGD:329902079 RGD:329955373

NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613

G

integrin subunit alpha 2

susceptibility

NCBI chr 4:49,280,289...49,382,101
Ensembl chr 4:49,317,648...49,380,051

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,157,866...27,206,802
Ensembl chr 5:27,157,878...27,206,714

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025

G

mannose binding lectin 2

susceptibility
severity

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

PMID:15693089 PMID:15730518

RGD:1582154 RGD:1582155

NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr 5:2,971,323...2,991,501

G

HLA class II histocompatibility antigen, DM alpha chain

no_association

NCBI chr17:39,142,340...39,151,804
Ensembl chr17:39,142,395...39,146,252

G

major histocompatibility complex, class II, DM beta

no_association

NCBI chr17:39,153,744...39,161,029
Ensembl chr17:39,154,850...39,161,090

G

matrix metallopeptidase 2

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

PMID:17949555 PMID:22116092

RGD:8547820 RGD:8657044

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621

G

nucleotide binding oligomerization domain containing 2

susceptibility
no_association

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

PMID:15515785 PMID:19748964 PMID:28492532

RGD:13204711 RGD:8158059

NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499

G

nitric oxide synthase 3

no_association
susceptibility

DNA:snp:cds:p.E298D
DNA:snp:cds:p.E298D (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (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 chr21:119,174,829...119,196,840

G

paraoxonase 1

protein:decreased activity:serum (human)

NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875

G

protein Z, vitamin K dependent plasma glycoprotein

NCBI chr 3:91,156,880...91,171,333
Ensembl chr 3:91,157,307...91,171,042

G

psoriasis susceptibility 1 candidate 1

CTD Direct Evidence: marker/mechanism

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 chr26:6,260,509...6,302,717
Ensembl chr26:6,260,349...6,302,673

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 chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827

G

serpin family E member 1

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

PMID:12074830 PMID:18341631

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

NCBI chr10:104,276,553...104,288,466

G

superoxide dismutase 1

protein:increased activity:serum (human)

NCBI chr 2:60,461,219...60,472,999

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 chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

signal transducer and activator of transcription 4

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

PMID:20438790 PMID:23001997 PMID:23291587

RGD:8661713 RGD:8661718

NCBI chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928

G

transforming growth factor beta 1

DNA:polymorphism:promoter:exon (human)

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

toll like receptor 2

susceptibility
no_association

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

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

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

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

toll like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232

G

toll like receptor 4

susceptibility
no_association

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

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

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

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

tumor necrosis factor

no_association

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

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

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

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902

G

vitamin D receptor

no_association

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

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

G

vascular endothelial growth factor A

protein:increased expression:serum

NCBI chr17:28,377,959...28,394,508

G

vimentin

NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829

G

von Willebrand factor

NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260

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 chr21:13,876,099...13,883,546
Ensembl chr21:13,876,099...13,883,462

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 chr11:50,039,034...50,057,178
Ensembl chr11:50,049,509...50,055,895

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chr11:18,985,103...19,234,328
Ensembl chr11:18,985,199...19,234,309

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:115,608,059...115,610,248
Ensembl chr X:115,608,810...115,610,150

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

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

NCBI chr25:63,110,626...63,150,602
Ensembl chr25:63,110,772...63,150,017

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 chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

blepharocheilodontic syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin-1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1

PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More...

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

blepharocheilodontic syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin delta 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2

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

NCBI chr 1:15,408,581...15,466,457
Ensembl chr 1:15,411,454...15,466,456

BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoglein 3

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

PMID:25741868 PMID:30528827

NCBI chr18:49,252,048...49,284,238
Ensembl chr18:49,254,106...49,282,937

brachyolmia-amelogenesis imperfecta syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6

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

NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763

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 chr22:6,238,804...6,325,804
Ensembl chr22:6,249,567...6,325,510

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 chr11:53,039,147...53,125,041
Ensembl chr11:53,039,364...53,125,776

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 chr12:4,611,952...4,623,373
Ensembl chr12:4,612,268...4,622,381

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 chr12:4,611,952...4,623,373
Ensembl chr12:4,612,268...4,622,381

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

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 chr10:28,230,129...28,394,103
Ensembl chr10:28,230,508...28,394,076

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 chr 3:73,403,520...73,424,985
Ensembl chr 3:73,400,485...73,424,892

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 chr12:73,738,646...73,887,518
Ensembl chr12:73,740,954...73,886,295

Cayler Cardiofacial Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EYA transcriptional coactivator and phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:66,902,961...67,238,149
Ensembl chr 8:66,902,972...67,060,567

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 chr24:83,117,823...83,192,435
Ensembl chr24:83,117,685...83,192,431

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 chr21:13,606,716...13,687,656
Ensembl chr21:13,606,472...13,656,275

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr21:13,594,969...13,603,436
Ensembl chr21:13,598,304...13,605,614

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

exacerbates
onset

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 chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470

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 chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701

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 chr 2:54,064,240...54,073,341
Ensembl chr 2:54,063,999...54,073,367

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 chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,114,033...48,115,963
Ensembl chr27:48,113,477...48,115,896

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,959,109...48,002,338
Ensembl chr27:47,959,091...48,002,527

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,533,490...47,570,505
Ensembl chr27:47,544,682...47,570,636

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,804,904...47,819,291
Ensembl chr27:47,805,017...47,817,583

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,240,766...45,271,605
Ensembl chr27:45,241,817...45,269,021

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,028,534...46,227,991
Ensembl chr27:46,028,533...46,168,051

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,105,860...47,131,400
Ensembl chr27:47,089,353...47,131,749

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,752,316...47,766,771
Ensembl chr27:47,750,626...47,755,929

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,852,548...47,935,691
Ensembl chr27:47,852,588...47,935,874

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,691,936...45,765,334

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,522,988...46,533,497
Ensembl chr27:46,522,991...46,533,408

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,283,213...45,290,922
Ensembl chr27:45,283,206...45,290,644

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,493,467...45,657,690
Ensembl chr27:45,497,352...45,657,621

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,778,220...47,794,435
Ensembl chr27:47,778,335...47,794,352

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,912,882...46,954,295
Ensembl chr27:46,912,819...46,956,164

G

endosomal/lysosomal potassium channel TMEM175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,819,512...47,852,455
Ensembl chr27:47,816,482...47,852,472

G

zinc finger protein 141

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,312,947...48,350,404

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,425,276...47,473,618
Ensembl chr27:47,425,185...47,473,626

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,806,889...45,811,122
Ensembl chr27:45,807,306...45,810,849

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,480,897...45,490,192
Ensembl chr27:45,480,545...45,491,188

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,502,767...46,517,500

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,106,168...48,112,434
Ensembl chr27:48,106,205...48,109,642

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,697,086...46,703,494
Ensembl chr27:46,698,845...46,703,413

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,759,742...46,786,835
Ensembl chr27:46,760,707...46,787,090

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,719,529...46,721,549

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,765,452...45,803,010
Ensembl chr27:45,765,603...45,806,730

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,015,976...48,077,688
Ensembl chr27:48,020,010...48,053,520

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,117,495...48,168,727
Ensembl chr27:48,118,190...48,162,368

G

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,243,098...48,286,642
Ensembl chr27:48,241,534...48,286,607

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,523,052...46,694,474

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,302,193...45,444,012

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr20:7,965,944...7,979,396
Ensembl chr20:7,966,057...7,976,819

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,665,652...47,705,754

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,245,786...46,290,671

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 chr27:45,919,717...45,961,355
Ensembl chr27:45,920,171...45,942,425

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,054,154...47,075,104
Ensembl chr27:47,054,787...47,074,537

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,787,201...47,802,834
Ensembl chr27:47,789,705...47,793,743

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,097,722...48,106,367
Ensembl chr27:48,098,727...48,106,238

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,609,170...47,615,507
Ensembl chr27:47,609,922...47,615,496

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,021,970...47,045,571
Ensembl chr27:47,021,965...47,045,223

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,045,579...47,050,641
Ensembl chr27:47,045,427...47,051,327

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,001,814...46,017,676
Ensembl chr27:46,001,872...46,018,494

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,378,310...47,418,861
Ensembl chr27:47,378,770...47,417,559

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,340,014...46,495,299
Ensembl chr27:46,340,244...46,495,651

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 chr25:38,950,219...39,340,920
Ensembl chr25:39,147,423...39,340,564

G

C-C motif chemokine ligand 2

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-C motif chemokine ligand 7

disease_progression

protein:increased expression:gingival crevicular fluid, gingvia

NCBI chr16:27,777,795...27,780,413

G

C-C motif chemokine receptor 2

NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728

G

C-X-C motif chemokine ligand 12

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

PMID:20731768 PMID:21382035

NCBI chr 9:40,005,580...40,020,513
Ensembl chr 9:40,011,439...40,020,494

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

DAB2 interacting protein

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

NCBI chr12:17,802,030...18,017,648
Ensembl chr12:17,801,831...17,830,890

G

desmocollin 1

mRNA:decreased expression:gingival tissues

NCBI chr18:49,547,141...49,578,226
Ensembl chr18:49,549,287...49,576,545

G

desmoglein 1

mRNA:decreased expression:gingival tissues

NCBI chr18:49,372,261...49,408,818
Ensembl chr18:49,375,262...49,406,742

G

estrogen receptor 1

no_association

DNA:polymorphism

NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549

G

interleukin 10

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

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 1 receptor like 1

mRNA:increased expression:gingiva

NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265

G

interleukin 33

mRNA, protein:increased expression:gingiva

NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues

NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

NCBI chr25:70,820,089...70,873,654
Ensembl chr25:70,819,706...70,873,961

G

glutathione S-transferase Mu 1

NCBI chr20:23,854,969...23,861,634

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 chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767

G

matrix metallopeptidase 2

treatment

associated with Atherosclerosis
mRNA:increased expression:gingival tissues

PMID:21382035 PMID:24820783

RGD:13207324 RGD:6480655

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

nestin

mRNA:decreased expression:gingival tissues

NCBI chr20:7,185,208...7,193,964
Ensembl chr20:7,185,390...7,193,983

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues

NCBI chr19:19,930,799...19,949,381
Ensembl chr19:19,929,892...19,949,376

G

receptor interacting serine/threonine kinase 3

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

NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462

G

toll like receptor 2

severity

protein:increased expression:gingiva:

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

toll like receptor 3

severity

protein:increased expression:gingiva:

NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232

G

toll like receptor 4

severity

protein:increased expression:gingiva:

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:20,717,884...20,761,520
Ensembl chr 3:20,727,592...20,760,408

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

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 chr20:39,140,288...39,271,169
Ensembl chr20:39,140,922...39,267,638

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 chr11:39,571,228...39,768,386
Ensembl chr11:39,572,013...39,767,590

G

Rho GTPase activating protein 29

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

NCBI chr20:39,031,352...39,096,227
Ensembl chr20:39,036,500...39,097,068

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:73,289,836...73,310,312
Ensembl chr 4:73,289,652...73,312,358

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 chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

G

catenin delta 1

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

PMID:25741868 PMID:29805042

NCBI chr 1:15,408,581...15,466,457
Ensembl chr 1:15,411,454...15,466,456

G

epithelial splicing regulatory protein 2

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

NCBI chr 5:59,184,624...59,192,842
Ensembl chr 5:59,186,167...59,197,003

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

NCBI chr23:45,220,827...45,328,387
Ensembl chr23:45,220,800...45,328,328

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,089,394...70,157,423

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:1,779,126...1,811,427
Ensembl chr 3:1,779,192...1,812,784

G

fibroblast growth factor receptor 1

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

PMID:17963255 PMID:24613087

NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

growth differentiation factor 6

NCBI chr 8:91,105,663...91,124,059
Ensembl chr 8:91,107,857...91,123,874

G

interferon regulatory factor 6

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

PMID:25741868 PMID:28492532

NCBI chr25:19,648,131...19,665,722

G

kinesin family member 7

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

NCBI chr29:8,172,294...8,193,775
Ensembl chr29:8,170,883...8,191,323

G

protein patched homolog 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985

G

cadherin-1

susceptibility

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

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

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

no_association
susceptibility

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

PMID:18261183 PMID:25129243

RGD:12910961 RGD:12910962

NCBI chr24:41,590,655...41,663,551
Ensembl chr24:41,590,590...41,666,952

G

methylenetetrahydrofolate reductase

susceptibility

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

PMID:16470725 PMID:27387868

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

nectin cell adhesion molecule 1

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

NCBI chr 1:111,046,310...111,116,906
Ensembl chr 1:111,046,333...111,116,698

G

noggin

susceptibility

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

PMID:25339627 PMID:25704602

RGD:11251786 RGD:12801482

NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr21:119,174,829...119,196,840

G

netrin 1

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

NCBI chr16:8,359,682...8,603,231
Ensembl chr16:8,379,129...8,603,223

G

pleckstrin homology domain containing A5

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

NCBI chr11:18,985,103...19,234,328
Ensembl chr11:18,985,199...19,234,309

G

pleckstrin homology domain containing A7

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

NCBI chr 1:47,933,468...48,155,749

G

protein O-mannosyltransferase 1

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

NCBI chr12:6,620,179...6,639,051
Ensembl chr12:6,618,312...6,639,024

G

syndecan 2

NCBI chr 8:91,451,808...91,570,778
Ensembl chr 8:91,552,647...91,568,828

G

solute carrier family 19 member 1

susceptibility

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

PMID:18797703 PMID:21254359

NCBI chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,357,611...59,362,705
Ensembl chr 3:59,358,394...59,359,341

G

small ubiquitin like modifier 1

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

NCBI chr10:87,917,324...87,957,152

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810

G

tumor protein p63

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

NCBI chr15:83,861,489...84,126,675

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856

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 chr22:11,704,422...11,710,013
Ensembl chr22:11,703,790...11,709,454

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 chr15:83,861,489...84,126,675

cleft lip-palate-ectodermal dysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nectin cell adhesion molecule 1

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

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

NCBI chr 1:111,046,310...111,116,906
Ensembl chr 1:111,046,333...111,116,698

cleft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC membrane recruitment protein 1

ClinVar Annotator: match by term: Cleft palate

NCBI chr X:54,568,751...54,591,284
Ensembl chr X:54,573,476...54,576,880

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:73,289,836...73,310,312
Ensembl chr 4:73,289,652...73,312,358

G

basonuclin zinc finger protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:62,775,827...63,233,077
Ensembl chr12:62,777,045...63,223,696

G

calcium/calmodulin dependent serine protein kinase

CTD Direct Evidence: marker/mechanism
DNA:insertion

NCBI chr X:38,704,623...39,121,309

G

core-binding factor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,356,303...60,445,793
Ensembl chr 5:60,356,272...60,445,729

G

cell division cycle 42

NCBI chr20:110,568,004...110,608,318
Ensembl chr20:110,569,352...110,582,562

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

NCBI chr 9:93,219,374...93,263,077
Ensembl chr 9:93,219,383...93,262,700

G

collagen type XI alpha 2 chain

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

PMID:20672350 PMID:22112025

RGD:12436724 RGD:12904711

NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625

G

collagen type II alpha 1 chain

susceptibility

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

PMID:15562585 PMID:20672350

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

G

discs large MAGUK scaffold protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652

G

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Cleft palate

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr21:36,350,606...36,722,018
Ensembl chr21:36,350,707...36,720,511

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,089,394...70,157,423

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:1,779,126...1,811,427