Stomatognathic Diseases - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Stomatognathic Diseases	go back to main search page
Accession:	DOID:9001349	browse the term
Definition:	General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx.
Synonyms:	exact_synonym:	dental disease; dental diseases; mouth and tooth diseases; stomatognathic disease
	xref:	MESH:D009057
	subset:	RGD_JBrowse_slim

show annotations for term's descendants Sort by:
Rat (1368) Mouse (1360) Human (39692) Chinchilla (1265) Bonobo (1328) Dog (1332) Squirrel (1268) Pig (1310) Green Monkey (1303) Naked Mole-rat (1257) All
Genes (1328)

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 chr11:65,300,889...65,305,020

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042

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 chr2B:126,080,684...126,143,677

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:69,070,218...69,087,243
Ensembl chr X:79,177,534...79,198,782

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

NCBI chr12:35,432,834...35,446,969
Ensembl chr12:36,214,444...36,227,886

G

lamin A/C

OMIM:200400

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

HLA class II histocompatibility antigen, DQ beta 1 chain

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

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

RGD:14865011 RGD:14974238 RGD:5147806

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

nitric oxide synthase 1

OMIM:200400

NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

NCBI chr 3:42,407,591...42,442,565
Ensembl chr 3:42,670,195...42,705,170

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

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 chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:210,711,946...210,874,034
Ensembl chr 1:215,729,783...215,888,412

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

ATR serine/threonine kinase

treatment

NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261

G

ATRX chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

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 chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800

G

BCL6 corepressor

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr X:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986

G

BCL6 corepressor like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:119,108,049...119,185,165
Ensembl chr X:129,403,888...129,479,297

G

BRCA1 DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:29,993,902...30,048,349
Ensembl chr22:48,998,037...49,048,101

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,737,006...64,750,353

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:53,727,087...53,734,555

G

CREB binding protein

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:187,603,600...187,672,006
Ensembl chr 1:192,466,408...192,535,071

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:54,389,228...54,425,655
Ensembl chr11:57,839,228...57,874,337

G

EF-hand domain family member D1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:119,865,065...119,914,446

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:5,798,557...5,804,368

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:47,929,305...48,081,381
Ensembl chr 5:49,589,418...49,676,689

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,460,500...35,486,794
Ensembl chr12:36,241,533...36,266,101

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Adenocystic carcinoma

NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,623,050...66,634,325
Ensembl chr X:76,737,733...76,749,731

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893

G

growth arrest specific 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:22,639,677...22,822,208
Ensembl chr11:22,583,367...22,729,243

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

Ensembl chr13:113,968,843...114,009,562

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:66,344,706...66,356,079
Ensembl chr16:85,681,716...85,691,626

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338

G

H1.4 linker histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,992,845...26,006,585
Ensembl chr 6:26,652,151...26,652,810
Ensembl chr 6:26,652,151...26,652,810

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,367,191...18,379,454
Ensembl chr19:19,374,442...19,385,392

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

insulin like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:103,893,724...103,925,318

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409

G

insulin receptor related receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

Ensembl chr 5:1,929,977...1,939,622

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,913,400...17,916,789
Ensembl chr19:18,884,412...18,887,931

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr10:59,674,227...60,028,763
Ensembl chr10:61,999,571...62,295,332

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:11,508,245...11,705,023
Ensembl chr17:11,296,318...11,456,593

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538

G

lysine demethylase 6A

exacerbates

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

PMID:23685749 PMID:31483290

RGD:150429732 RGD:150429736

NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:31483290

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

keratin 15

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,794,336...15,802,977
Ensembl chr17:16,011,990...16,020,629

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105

G

X antigen family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:44,700,391...44,705,731

G

histone H2A type 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:27,695,226...27,696,385
Ensembl chr 6:28,342,376...28,342,768

G

contactin-6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:1,021,854...1,339,952
Ensembl chr 3:1,133,190...1,442,622

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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:65,257,763...65,932,527
Ensembl chr 3:66,635,580...66,757,358

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:69,943,704...71,395,176
Ensembl chr 7:83,758,512...84,760,872

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:132,082,120...132,518,928
Ensembl chr 4:143,391,606...143,562,699

G

mitogen-activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chr 6:111,647,847...111,653,821

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:59,195,852...59,268,391
Ensembl chr11:62,546,455...62,618,772

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

Ensembl chr19:259,565...288,920

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:57,844,220...57,869,139
Ensembl chr15:76,772,007...76,829,259

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:63,105,379...63,156,421
Ensembl chr 8:64,771,278...64,811,960

G

MYC binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:38,135,375...38,145,640

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr2A:15,925,130...15,931,605

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,343,333...27,405,173
Ensembl chr16:46,235,165...46,284,344

G

nuclear factor I B

CTD Direct Evidence: marker/mechanism

NCBI chr 9:13,923,516...14,376,264

G

notch receptor 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

G

neurotrophic receptor tyrosine kinase 3

treatment

NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr X:41,128,785...41,133,284
Ensembl chr X:48,988,948...48,990,028

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:122,034,097...122,091,823
Ensembl chr 1:113,579,273...113,615,390

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 chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,191,066...25,242,955
Ensembl chr20:25,593,589...25,648,066

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:16,740,707...17,031,415
Ensembl chr22:34,586,044...34,870,257

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:19,168,820...19,680,706
Ensembl chr20:19,137,938...19,646,475

G

solute carrier family 3 member 2

disease_progression

NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr21:19,910,024...19,944,511
Ensembl chr21:33,282,910...33,316,007

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

NCBI chr2A:5,699,738...5,711,210

G

SRY-box transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:21,422,846...21,427,779

G

Snf2 related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr11:121,169,213...121,228,287
Ensembl chr11:125,079,260...125,141,737

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

tousled like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:58,277,362...58,445,321
Ensembl chr2B:175,735,054...175,903,322

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207

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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

ubiquitin like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:3,926,583...3,979,163
Ensembl chr19:4,872,753...4,925,330

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

NCBI chr20:21,260,871...21,347,430
Ensembl chr20:21,222,138...21,308,561

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 chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

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 chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

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 chr 1:165,586,510...165,972,173
Ensembl chr 1:169,873,541...170,258,015

G

C-C motif chemokine ligand 2

susceptibility

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

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine receptor 2

susceptibility

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

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

collagen type I alpha 1 chain

DNA:SNP

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

C-reactive protein

protein:increased expression:serum:

NCBI chr 1:135,062,102...135,064,402

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 chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847

G

glutathione S-transferase mu 1

Ensembl chr 1:127,979,238...128,010,411

G

interleukin 10

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

PMID:28662328 PMID:28868949

RGD:14975139 RGD:14975264

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 1 receptor type 2

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

PMID:18315432 PMID:24818754

RGD:8662884 RGD:8662885

Ensembl chr2A:103,042,328...103,078,190

G

interleukin 2

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 6

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

NCBI chr 7:23,415,922...23,420,767

G

periostin

OMIM:170650 | OMIM:608526

NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545

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 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736

G

paired related homeobox 1

ClinVar Annotator: match by term: Agnathia-otocephaly complex

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

NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740

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 chr2B:105,523,495...105,529,550
Ensembl chr2B:224,121,531...224,127,369

G

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

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

NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chr2B:106,487,377...106,494,258
Ensembl chr2B:225,078,322...225,085,205

G

actin related protein 2/3 complex subunit 2

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

NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643

G

acid sensing ion channel subunit family member 4

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

NCBI chr2B:106,770,714...106,796,044
Ensembl chr2B:225,361,477...225,386,081

G

autophagy related 9A

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

NCBI chr2B:106,477,007...106,487,249
Ensembl chr2B:225,067,590...225,078,065

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chr2B:105,615,244...105,627,114
Ensembl chr2B:224,213,335...224,223,583

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chr2B:106,217,926...106,220,444

G

cilia and flagella associated protein 65

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

NCBI chr2B:106,260,872...106,299,594
Ensembl chr2B:224,854,262...224,892,490

G

chondroitin polymerizing factor

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

NCBI chr2B:106,796,215...106,801,081
Ensembl chr2B:225,386,262...225,390,886

G

CCR4-NOT transcription complex subunit 9

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

NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chr2B:106,429,610...106,435,887
Ensembl chr2B:225,022,210...225,028,410

G

crystallin beta A2

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

NCBI chr2B:106,248,236...106,252,081
Ensembl chr2B:224,841,620...224,844,836

G

CTD small phosphatase 1

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

NCBI chr2B:105,658,394...105,664,571
Ensembl chr2B:224,254,460...224,262,000

G

C-X-C motif chemokine receptor 1

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

NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890

G

C-X-C motif chemokine receptor 2

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

NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148

G

cytochrome P450 family 27 subfamily A member 1

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

NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474

G

desmin

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

NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556

G

aspartyl aminopeptidase

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

NCBI chr2B:106,631,392...106,645,100
Ensembl chr2B:225,221,703...225,247,699

G

FEV transcription factor, ETS family member

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

NCBI chr2B:106,238,933...106,243,499

G

galactosidase beta 1 like

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

NCBI chr2B:106,494,214...106,503,001
Ensembl chr2B:225,085,163...225,093,610

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 chr2B:106,756,115...106,764,280
Ensembl chr2B:225,346,029...225,354,116

G

G protein-coupled bile acid receptor 1

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

NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119

G

Indian hedgehog signaling molecule

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

NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506

G

mitochondrial chaperone BCS1

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

NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856

G

non-homologous end joining factor 1

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

NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788

G

obscurin like cytoskeletal adaptor 1

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

NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567

G

phospholipase C delta 4

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

NCBI chr2B:105,864,706...105,895,114
Ensembl chr2B:224,461,261...224,490,345

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chr2B:106,085,299...106,139,298
Ensembl chr2B:224,679,831...224,687,705

G

protein tyrosine phosphatase receptor type N

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

NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700

G

regulated endocrine specific protein 18

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

NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916

G

reticulophagy regulator family member 2

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

NCBI chr2B:106,435,938...106,441,428
Ensembl chr2B:225,028,498...225,034,024

G

ring finger protein 25

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

NCBI chr2B:105,921,875...105,930,034
Ensembl chr2B:224,517,286...224,525,253

G

solute carrier family 11 member 1

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

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

G

solute carrier family 23 member 3

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

NCBI chr2B:106,418,754...106,427,931
Ensembl chr2B:225,011,825...225,020,503

G

striated muscle enriched protein kinase

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

NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910

G

serine/threonine kinase 16

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

NCBI chr2B:106,502,953...106,506,470
Ensembl chr2B:225,093,645...225,098,504

G

serine/threonine kinase 36

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

NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chr2B:105,533,578...105,551,969
Ensembl chr2B:224,131,478...224,143,170

G

transmembrane protein 198

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

NCBI chr2B:106,801,303...106,807,872
Ensembl chr2B:225,391,343...225,397,937

G

tubulin tyrosine ligase like 4

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

NCBI chr2B:105,968,840...106,016,034
Ensembl chr2B:224,563,691...224,610,431

G

tubulin alpha 4a

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

NCBI chr2B:106,507,842...106,512,155
Ensembl chr2B:225,093,643...225,102,188

G

ubiquitin specific peptidase 37

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

NCBI chr2B:105,708,070...105,826,435
Ensembl chr2B:224,304,520...224,422,228

G

villin 1

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

NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550

G

Wnt family member 10A

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

NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912

G

Wnt family member 6

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

NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171

G

zinc finger AN1-type containing 2B

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

NCBI chr2B:106,464,364...106,467,217
Ensembl chr2B:225,055,969...225,058,647

G

zinc finger protein 142

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

NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839

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:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

NCBI chr19:11,120,451...11,125,167
Ensembl chr19:11,832,575...11,835,203

G

angiotensin II receptor type 1

treatment

associated with periodontal disease

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

angiotensin II receptor type 2

treatment

associated with hypertension, periodontal disease

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

alkaline phosphatase, biomineralization associated

treatment

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

PMID:20630305 PMID:33364953

NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688

G

C-C motif chemokine receptor 2

associated with Periodontitis;

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

cathepsin K

treatment

associated with hypertension, periodontal disease

NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 1 beta

treatment

associated with periodontal disease

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 6

treatment

associated with periodontal disease

NCBI chr 7:23,415,922...23,420,767

G

integrin subunit alpha V

treatment

associated with periodontal disease

NCBI chr2B:73,880,962...73,972,486
Ensembl chr2B:191,680,655...191,773,028

G

growth-regulated alpha protein

treatment

associated with hypertension, periodontal disease

NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

NCBI chr 6:157,774,098...157,799,983
Ensembl chr 6:162,801,416...162,802,393

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

osteoclast associated Ig-like receptor

treatment

associated with hypertension, periodontal disease

NCBI chr19:51,027,449...51,033,972
Ensembl chr19:59,871,394...59,876,370

G

poly(ADP-ribose) polymerase 1

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

peroxisome proliferator activated receptor gamma

treatment

associated with hypertension, periodontal disease

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 11a

treatment

associated with periodontal disease

NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044

G

TNF receptor superfamily member 11b

treatment

associated with periodontal disease

NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

PMID:19249596 PMID:33364953

NCBI chr13:23,750,835...23,784,740

G

vitronectin

treatment

associated with periodontal disease

NCBI chr17:28,403,813...28,407,202
Ensembl chr17:28,906,508...28,909,583

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 chr19:47,754,780...47,760,294
Ensembl chr19:56,649,018...56,653,909

G

amelogenin X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

Ensembl chr X:11,214,103...11,221,443

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:3,767,259...4,291,738
Ensembl chr X:11,058,207...11,582,115

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 9:16,230,704...16,684,863
Ensembl chr 9:16,733,344...17,182,609

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 7:56,714,583...56,719,640
Ensembl chr 7:57,134,303...57,141,765

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr10:100,630,959...100,685,715

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848

G

enamelin

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

PMID:25741868 PMID:28492532

NCBI chr 4:53,574,316...53,592,465
Ensembl chr 4:59,920,000...59,938,884

G

FAM20C golgi associated secretory pathway kinase

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

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

RGD:11560487 RGD:11560491

NCBI chr 7:311,468...394,623

G

family with sequence similarity 83 member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chr 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr14:71,859,025...71,891,126
Ensembl chr14:91,207,679...91,208,806

G

kallikrein related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr19:47,849,158...47,876,522
Ensembl chr19:56,764,073...56,768,169

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 1:185,191,401...185,245,154
Ensembl chr 1:189,996,639...190,034,206

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864

G

putative phosphoserine phosphatase-like protein

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 7:56,351,434...56,376,714

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802

G

RELT TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chr11:68,453,109...68,474,262
Ensembl chr11:71,673,955...71,695,103

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr14:72,956,230...73,128,851
Ensembl chr14:92,299,507...92,468,939

G

Sp6 transcription factor

NCBI chr17:9,673,572...9,692,382
Ensembl chr17:9,871,175...9,872,305

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853

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 chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322

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 chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853

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 4:48,640,355...48,649,546
Ensembl chr 4:54,471,278...54,484,548

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 chr14:72,956,230...73,128,851
Ensembl chr14:92,299,507...92,468,939

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 chr10:100,630,959...100,685,715

G

laminin subunit beta 3

ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA

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

NCBI chr 1:185,191,401...185,245,154
Ensembl chr 1:189,996,639...190,034,206

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 chr10:100,630,959...100,685,715

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848

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 4:53,574,316...53,592,465
Ensembl chr 4:59,920,000...59,938,884

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 4:53,574,316...53,592,465
Ensembl chr 4:59,920,000...59,938,884

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853

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...

Ensembl chr X:11,214,103...11,221,443

G

amelogenin Y-linked

OMIM:301200

NCBI chr X:3,898,819...3,930,686
Ensembl chr X:11,214,103...11,221,443

G

Rho GTPase activating protein 6

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

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

NCBI chr X:3,767,259...4,291,738
Ensembl chr X:11,058,207...11,582,115

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 4:53,616,553...53,631,566
Ensembl chr 4:59,961,939...59,976,750

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 chr17:62,474,317...62,537,800
Ensembl chr17:67,864,331...67,927,128

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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

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 chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426

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 chr19:47,754,780...47,760,294
Ensembl chr19:56,649,018...56,653,909

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 chr17:9,673,572...9,692,382
Ensembl chr17:9,871,175...9,872,305

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 chr19:47,849,158...47,876,522
Ensembl chr19:56,764,073...56,768,169

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 chr14:71,859,025...71,891,126
Ensembl chr14:91,207,679...91,208,806

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 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919

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 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chr 4:53,691,674...53,705,831
Ensembl chr 4:60,036,818...60,050,965

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 chr11:68,453,109...68,474,262
Ensembl chr11:71,673,955...71,695,103

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 chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848

amyotrophic lateral sclerosis type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrin 3

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

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

NCBI chr 5:134,664,893...134,702,566
Ensembl chr 5:140,788,709...140,825,064

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 chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

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 chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

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 chr12:68,963,423...69,110,107
Ensembl chr12:71,823,511...71,969,704

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327

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 chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

NCBI chr10:48,950,704...48,953,815
Ensembl chr10:51,084,027...51,089,776

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:58,881,660...59,308,451

G

ectodysplasin A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:35,164,884...35,168,189
Ensembl chr16:54,272,412...54,275,124

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 chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924

G

keratinocyte differentiation factor 1

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

NCBI chr 1:26,210,572...26,221,991
Ensembl chr 1:27,267,106...27,277,684

G

E3 SUMO-protein ligase RanBP2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chr2A:94,961,024...95,029,437

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

msh homeobox 1

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

Ensembl chr 4:4,935,600...4,939,079

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 chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633

Anodontia of Permanent Dentition

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Anodontia of permanent dentition

PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More...

NCBI chr 7:59,090,343...59,098,332

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 4:103,112,624...103,137,356

aphthous stomatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeostatic iron regulator

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

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

interleukin 10

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

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

methylenetetrahydrofolate reductase

severity

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

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

transforming growth factor beta 1

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

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

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 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706

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 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394

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:67,093,675...67,231,318
Ensembl chr X:77,255,312...77,342,756

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

heterogeneous nuclear ribonucleoprotein K

ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: Okamoto syndrome

PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More...

NCBI chr 9:40,898,593...40,911,159
Ensembl chr 9:83,324,238...83,336,756

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649

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 chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

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 chr 3:50,221,428...50,228,062
Ensembl chr 3:51,456,173...51,462,815

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chr 3:50,225,000...50,228,015
Ensembl chr 3:51,459,748...51,462,764

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 8:19,422,423...19,446,799
Ensembl chr 8:16,369,937...16,394,284

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 5:15,014,019...15,175,467
Ensembl chr 5:14,855,914...14,917,729

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 5:14,969,432...15,017,666
Ensembl chr 5:14,809,539...14,837,750

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 4:79,903,923...79,909,836

autosomal recessive craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein alpha 1

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

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

NCBI chr 6:119,213,513...119,227,617

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 chr12:46,127,673...46,262,333
Ensembl chr12:47,100,393...47,126,102

G

receptor tyrosine kinase like orphan receptor 2

ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: ROR2-related disorder | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly

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

NCBI chr 9:62,782,183...63,005,626
Ensembl chr 9:90,851,983...90,965,084

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 4:104,786,721...104,931,981
Ensembl chr 4:115,430,258...115,495,026

G

ankyrin 2

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

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

adaptor related protein complex 1 associated regulatory protein

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

NCBI chr 4:104,720,583...104,762,097
Ensembl chr 4:115,282,727...115,322,872

G

family with sequence similarity 241 member A

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

NCBI chr 4:104,635,223...104,678,361

G

high mobility group nucleosomal binding domain 2

OMIM:180500

NCBI chr 1:25,736,429...25,739,987
Ensembl chr 1:26,801,607...26,804,333

G

La ribonucleoprotein 7, transcriptional regulator

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

NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003

G

neurogenin 2

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

NCBI chr 4:105,002,447...105,005,704

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 4:103,112,624...103,137,356

G

PR/SET domain 5

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

NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928

G

TRAF interacting protein with forkhead associated domain

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

NCBI chr 4:104,765,007...104,776,217

G

zinc finger GRF-type containing 1

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

NCBI chr 4:105,026,069...105,128,226
Ensembl chr 4:115,590,311...115,686,089

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 chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

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

NCBI chr 9:68,943,747...68,947,226

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 chr2B:126,080,684...126,143,677

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 chr21:28,062,975...28,091,323
Ensembl chr21:41,389,654...41,417,472

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 chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918

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 chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942

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 chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

angiotensin I converting enzyme

susceptibility
no_association

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

PMID:15045629 PMID:15961928

RGD:7829810 RGD:8142349

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

adenosine deaminase 2

ClinVar Annotator: match by term: Behcet's syndrome

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

NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

catalase

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

PMID:12074830 PMID:17206395

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

C-C motif chemokine ligand 2

susceptibility

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

PMID:12712358 PMID:19782713

RGD:8548882 RGD:8549488

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755

G

C-C motif chemokine receptor 5

no_association

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

PMID:15009175 PMID:15501397 PMID:17067435

RGD:4892106 RGD:8551814 RGD:8551827

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

G

CD40 ligand

protein:increased expression:plasma

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr 7:84,603,419...84,835,082

G

complement factor B

NCBI chr 6:31,606,716...31,612,782

G

carboxypeptidase B2

NCBI chr13:26,926,788...26,979,767

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

NCBI chr 1:135,062,102...135,064,402

G

cytotoxic T-lymphocyte associated protein 4

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

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

cytochrome P450 family 1 subfamily A member 1

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

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

7-dehydrocholesterol reductase

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

NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365

G

coagulation factor V

no_association

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

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fc gamma receptor IIIa

susceptibility

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

NCBI chr 1:137,027,943...137,036,738

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

intercellular adhesion molecule 1

no_association
susceptibility

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

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

RGD:8158115 RGD:8158123 RGD:8547575

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interferon gamma

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

PMID:2154346 PMID:21334264

RGD:8142356 RGD:8142377

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092

G

interleukin 10

treatment
onset
disease_progression
susceptibility

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

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

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

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 17A

protein:increased expression:plasma (human)

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

susceptibility
no_association

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 chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr2A:99,419,686...99,462,650

G

interleukin 1 beta

protein:increased expression:serum

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

protein:increased expression:serum

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 2

DNA:polymorphism:promoter (human)

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 21 receptor

Ensembl chr16:27,774,864...27,821,769

G

interleukin 23 receptor

susceptibility

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

PMID:20375120 PMID:22483685

RGD:8549550 RGD:8549565

NCBI chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815

G

interleukin 4

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

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

protein:increased secretion:monocyte:

NCBI chr 7:23,415,922...23,420,767

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 chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073

G

integrin subunit alpha 2

susceptibility

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr16:24,445,966...24,496,037
Ensembl chr16:30,843,747...30,892,597

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963

G

killer cell lectin like receptor C4

CTD Direct Evidence: marker/mechanism

NCBI chr12:10,418,672...10,449,250
Ensembl chr12:10,697,454...10,699,818

G

HLA class II histocompatibility antigen, DM alpha chain

no_association

NCBI chr 6:32,518,060...32,537,989
Ensembl chr 6:33,634,123...33,637,988

G

HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

DNA:polymorphisms:cds:multiple (human)

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

class I histocompatibility antigen, Gogo-B*0101 alpha chain

disease_progression

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

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

RGD:7364873 RGD:7364918 RGD:7364939

NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067

G

uncharacterized LOC129397943

CTD Direct Evidence: marker/mechanism

Ensembl chr 6:31,726,297...31,751,426

G

mannose binding lectin 2

severity
susceptibility

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

PMID:15693089 PMID:15730518

RGD:1582154 RGD:1582155

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970

G

HLA class II histocompatibility antigen, DM beta chain

no_association

NCBI chr 6:32,504,074...32,510,669
Ensembl chr 6:33,619,870...33,625,685

G

matrix metallopeptidase 2

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

PMID:17949555 PMID:22116092

RGD:8547820 RGD:8657044

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

G

nucleotide binding oligomerization domain containing 2

no_association
susceptibility

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

PMID:15515785 PMID:19748964 PMID:28492532

RGD:13204711 RGD:8158059

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

nitric oxide synthase 3

susceptibility
no_association

DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (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 chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

paraoxonase 1

protein:decreased activity:serum (human)

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

protein Z, vitamin K dependent plasma glycoprotein

NCBI chr13:94,294,846...94,314,458
Ensembl chr13:113,364,280...113,383,010

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

Ensembl chr15:75,533,114...75,552,365

G

protein tyrosine phosphatase non-receptor type 22

no_association

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

PMID:17660222 PMID:22396730

RGD:6484733 RGD:7829745

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

serpin family E member 1

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

PMID:12074830 PMID:18341631

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

G

superoxide dismutase 1

protein:increased activity:serum (human)

NCBI chr21:18,029,831...18,037,526

G

signal transducer and activator of transcription 3

no_association

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

PMID:22205606 PMID:23127549

RGD:6483021 RGD:8694309

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

signal transducer and activator of transcription 4

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

PMID:20438790 PMID:23001997 PMID:23291587

RGD:8661713 RGD:8661718

NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011

G

transforming growth factor beta 1

DNA:polymorphism:promoter:exon (human)

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

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 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728

G

toll like receptor 4

susceptibility
no_association

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

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

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

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tumor necrosis factor

no_association

protein:increased expression:serum
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
DNA:SNP:promoter:-308G>A (human)
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

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

vitamin D receptor

no_association

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

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

G

vascular endothelial growth factor A

protein:increased expression:serum

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

vimentin

NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642

G

von Willebrand factor

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

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 chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545

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 chr12:34,808,575...34,816,324
Ensembl chr12:35,596,821...35,604,560

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chr12:19,132,418...19,377,981
Ensembl chr12:19,518,125...19,762,056

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:129,654,296...129,656,446

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

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

NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794

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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

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 chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

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 chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593

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 chr18:24,664,969...24,695,271
Ensembl chr18:28,262,860...28,293,879

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 chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413

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 chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700

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 chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979

Carey-Fineman-Ziter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More...

NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953

NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

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

NCBI chr 6:43,812,606...43,814,252
Ensembl chr 6:45,097,114...45,097,368

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 chr2B:16,792,401...16,947,766
Ensembl chr2B:146,975,995...147,132,634

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 chr13:75,747,686...75,770,010
Ensembl chr13:94,903,511...94,925,637

CATIFA Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Catifa syndrome

PMID:25741868 PMID:27878435 PMID:31932796

NCBI chr 9:5,449,982...5,598,891
Ensembl chr 9:5,633,779...5,779,884

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 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829

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 chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465

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 chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr 7:45,794,340...45,802,532

cerebral cavernous malformation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

programmed cell death 10

onset
exacerbates

ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

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

RGD:401827114 RGD:401827115

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

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 chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372

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 chr20:2,571,393...2,580,642
Ensembl chr20:2,335,499...2,344,763

cherubism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

Ensembl chr 4:705,707...707,172

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,075,133...1,090,081
Ensembl chr 4:994,985...1,007,724

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,613,018...3,653,764
Ensembl chr 4:3,605,185...3,628,570

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,678,935...2,875,203
Ensembl chr 4:2,641,979...2,777,761

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

Ensembl chr 4:1,647,466...1,722,938

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:952,474...1,049,612
Ensembl chr 4:883,096...967,473

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,106,064...3,181,270
Ensembl chr 4:3,008,126...3,083,094

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,370,947...2,385,108
Ensembl chr 4:2,282,482...2,292,739

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,590,908...3,599,781
Ensembl chr 4:3,575,819...3,583,436

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,432,848...1,485,764
Ensembl chr 4:1,315,810...1,366,448

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,073,071...3,077,765
Ensembl chr 4:2,975,493...2,979,791

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,393,646...3,408,820
Ensembl chr 4:3,290,354...3,305,139

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,390,409...2,405,141

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:723,153...725,981
Ensembl chr 4:708,548...715,897

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,201,326...2,211,302

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,119,699...2,147,618
Ensembl chr 4:2,027,939...2,054,669

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,184,128...2,186,148

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,547,939...1,551,457

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,080,444...3,105,999
Ensembl chr 4:2,982,906...3,007,548

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:802,990...874,063
Ensembl chr 4:746,137...805,443

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

Ensembl chr 4:646,516...701,680

G

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:499,795...540,453
Ensembl chr 4:521,807...561,790

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,214,154...2,385,094
Ensembl chr 4:2,122,309...2,292,431

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:3,439,030...3,589,026
Ensembl chr 4:3,444,570...3,573,712

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,167,176...1,259,080
Ensembl chr 4:1,102,342...1,146,153

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,614,918...2,661,785
Ensembl chr 4:2,540,612...2,563,937

G

SH3 domain binding protein 2

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

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

NCBI chr 4:2,936,051...2,982,062
Ensembl chr 4:2,857,249...2,882,263

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,830,247...1,849,890
Ensembl chr 4:1,744,616...1,763,796

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:725,725...733,127
Ensembl chr 4:715,736...723,399

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,309,473...1,351,529
Ensembl chr 4:1,195,848...1,200,400

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,853,126...1,858,461
Ensembl chr 4:1,767,517...1,772,643

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,049,647...1,074,903
Ensembl chr 4:967,494...993,030

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,884,265...2,899,160

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:1,492,716...1,532,114
Ensembl chr 4:1,373,562...1,413,982

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:2,412,659...2,564,741
Ensembl chr 4:2,320,446...2,470,638

G

zinc finger protein 721

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 4:441,041...499,744

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 chr 1:165,586,510...165,972,173
Ensembl chr 1:169,873,541...170,258,015

G

C-C motif chemokine ligand 2

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine receptor 2

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

C-X-C motif chemokine ligand 12

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

PMID:20731768 PMID:21382035

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

DAB2 interacting protein

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

NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336

G

desmocollin 1

mRNA:decreased expression:gingival tissues

NCBI chr18:24,358,116...24,393,604
Ensembl chr18:27,955,717...27,990,818

G

desmoglein 1

mRNA:decreased expression:gingival tissues

NCBI chr18:24,543,061...24,579,085
Ensembl chr18:28,078,131...28,175,803

G

estrogen receptor 1

no_association

DNA:polymorphism

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

glutathione S-transferase mu 1

Ensembl chr 1:127,979,238...128,010,411

G

interleukin 10

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

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 1 receptor like 1

mRNA:increased expression:gingiva

G

interleukin 33

mRNA, protein:increased expression:gingiva

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues

NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

NCBI chr 1:209,149,558...209,210,873
Ensembl chr 1:214,178,631...214,238,379

G

matrix metallopeptidase 1

severity
no_association

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

PMID:12622858 PMID:15312099 PMID:22401717

RGD:7206856 RGD:7207045 RGD:7207046

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 2

treatment

associated with Atherosclerosis
mRNA:increased expression:gingival tissues

PMID:21382035 PMID:24820783

RGD:13207324 RGD:6480655

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

nestin

mRNA:decreased expression:gingival tissues

NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues

NCBI chr22:18,138,517...18,159,023
Ensembl chr22:35,973,229...35,992,026

G

receptor interacting serine/threonine kinase 3

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

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

toll like receptor 2

severity

protein:increased expression:gingiva:

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 3

severity

protein:increased expression:gingiva:

NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728

G

toll like receptor 4

severity

protein:increased expression:gingiva:

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,750,835...23,784,740

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

cleft lip

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589

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 chr12:45,178,058...45,369,042
Ensembl chr12:46,046,555...46,236,676

G

Rho GTPase activating protein 29

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

NCBI chr 1:96,835,259...96,910,999
Ensembl chr 1:95,561,933...95,640,214

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:36,223,429...36,242,187
Ensembl chr 5:36,670,854...36,728,993

G

bone morphogenetic protein 4

susceptibility

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

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

RGD:13442495 RGD:13442497

NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752

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 chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

G

catenin delta 1

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

PMID:25741868 PMID:29805042

NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593

G

epithelial splicing regulatory protein 2

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

NCBI chr16:48,603,753...48,611,869
Ensembl chr16:67,995,769...68,005,829

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198

G

fibroblast growth factor receptor 1

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

PMID:17963255 PMID:24613087

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

growth differentiation factor 6

NCBI chr 8:92,767,401...92,785,955

G

interferon regulatory factor 6

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

PMID:25741868 PMID:28492532

NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145

G

kinesin family member 7

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

NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

Ensembl chr 4:4,935,600...4,939,079

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility
no_association

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

PMID:18261183 PMID:25129243

RGD:12910961 RGD:12910962

NCBI chr14:44,969,573...45,041,296
Ensembl chr14:63,223,484...63,293,881

G

methylenetetrahydrofolate reductase

susceptibility

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

PMID:16470725 PMID:27387868

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

nectin cell adhesion molecule 1

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

NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090

G

noggin

susceptibility

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

PMID:25339627 PMID:25704602

RGD:11251786 RGD:12801482

NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

netrin 1

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

NCBI chr17:42,409,797...42,631,930
Ensembl chr17:47,152,225...47,368,134

G

pleckstrin homology domain containing A5

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

NCBI chr12:19,132,418...19,377,981
Ensembl chr12:19,518,125...19,762,056

G

pleckstrin homology domain containing A7

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

NCBI chr11:16,861,464...17,095,610
Ensembl chr11:16,555,368...16,647,075

G

protein O-mannosyltransferase 1

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

NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

syndecan 2

NCBI chr 8:93,118,379...93,230,803
Ensembl chr 8:95,314,910...95,428,519

G

solute carrier family 19 member 1

susceptibility

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

PMID:18797703 PMID:21254359

NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408

G

small ubiquitin like modifier 1

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

NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494

G

tumor protein p63

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

NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320

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 chr 3:50,243,926...50,248,972
Ensembl chr 3:51,479,020...51,482,551

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 chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104

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 chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090

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:53,309,868...53,331,151
Ensembl chr X:63,396,392...63,399,802