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 (1345) QTL (12) Strains (11)

Stomatognathic Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

CTD Direct Evidence: marker/mechanism

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ablepharon macrostomia syndrome

OMIM
CTD
ClinVar

PMID:2036354 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 More...

NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome

OMIM
CTD
ClinVar

PMID:839509 PMID:22784330 PMID:25741868

NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

susceptibility

PMID:16098009 PMID:16098009

RGD:1598514, RGD:1598514

NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961

G

lamin A/C

OMIM:200400

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

nitric oxide synthase 1

OMIM:200400

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

G

RT1 class II, locus Ba

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

CTD
RGD

PMID:24997987 PMID:11837716

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

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

CTD
RGD

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

RGD:5147806, RGD:14974238, RGD:14865011

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

RGD

NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

adenoid cystic carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATR serine/threonine kinase

treatment

RGD

NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

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 chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

G

BCL6 co-repressor-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087

G

BRCA1, DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:137,354,886...137,751,712
Ensembl chr 4:137,355,367...137,751,119

G

CREB binding protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chr13:103,115,810...103,155,029
Ensembl chr13:103,117,186...103,154,890

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:209,460,735...209,492,818

G

EF-hand domain family, member D1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:34,926,962...35,028,440
Ensembl chr 2:34,928,863...35,027,852

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:133,424,027...133,450,984
Ensembl chr 7:133,424,130...133,450,984

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:23685749 PMID:26619011

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683

G

growth arrest-specific 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:101,452,361...101,582,619
Ensembl chr 1:101,482,591...101,582,619

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671

G

H1.4 linker histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

insulin-like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556

G

insulin receptor-related receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606

G

lysine demethylase 6A

exacerbates

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

CTD
RGD

PMID:23685749 PMID:31483290 PMID:23685749

RGD:150429736, RGD:150429732

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23685749 PMID:31483290

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 4:178,185,418...178,218,484

G

keratin 15

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,066,797...85,070,614
Ensembl chr10:85,066,802...85,171,799

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:126,205,663...126,811,354
Ensembl chr 4:126,206,816...126,811,691

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240

G

mastermind-like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814

G

mitogen activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:10,153,501...10,169,381
Ensembl chr 7:10,153,649...10,169,378

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183

G

Myc binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023

G

nuclear factor I/B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479

G

notch receptor 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358

G

neurotrophic receptor tyrosine kinase 3

treatment

RGD

NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192

G

solute carrier family 3 member 2

disease_progression

RGD

NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931

G

solute carrier family 7 member 5

disease_progression

RGD

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354

G

SRY-box transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665

G

Snf2-related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

tousled-like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:55,520,559...55,627,580
Ensembl chr 3:55,503,358...55,691,968

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p53

disease_progression

ClinVar Annotator: match by term: Adenocystic carcinoma
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

ubiquitin-like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,133,117...1,154,639
Ensembl chr 9:1,134,909...1,154,631

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

RGD

NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306

adenoid squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HNF1 homeobox A

RGD

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More...

NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398

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

RGD

NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770

G

C-C motif chemokine ligand 2

susceptibility

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

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine receptor 2

susceptibility

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

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

collagen type I alpha 1 chain

DNA:SNP

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

C-reactive protein

protein:increased expression:serum:

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cathepsin C

ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387

G

glutathione S-transferase mu 1

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

interleukin 10

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

RGD

PMID:28662328 PMID:28868949

RGD:14975139, RGD:14975264

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 receptor type 2

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

RGD

PMID:18315432 PMID:24818754

RGD:8662884, RGD:8662885

NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725

G

interleukin 2

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 6

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

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

periostin

OMIM:170650 | OMIM:608526

NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

RGD

NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601

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 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049

G

paired related homeobox 1

ClinVar Annotator: match by term: Agnathia-otocephaly complex
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074

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 chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547

G

ATP binding cassette subfamily B member 6

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

NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469

G

actin related protein 2/3 complex, subunit 2

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

NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471

G

acid sensing ion channel subunit family member 4

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

NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900

G

autophagy related 9A

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

NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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

NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607

G

cyclin-dependent kinase 5 regulatory subunit 2

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

NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344

G

cilia and flagella associated protein 65

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

NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128

G

chondroitin polymerizing factor

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

NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878

G

CCR4-NOT transcription complex subunit 9

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

NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188

G

crystallin, beta A2

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

NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460

G

CTD small phosphatase 1

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

NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297

G

C-X-C motif chemokine receptor 1

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

NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084

G

C-X-C motif chemokine receptor 2

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

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

cytochrome P450, family 27, subfamily a, polypeptide 1

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

NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551

G

desmin

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

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277

G

aspartyl aminopeptidase

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

NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716

G

FEV transcription factor, ETS family member

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

NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065

G

galactosidase, beta 1-like

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

NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510

G

GDP-mannose pyrophosphorylase A

OMIM:615510
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome

OMIM
MouseDO
ClinVar

PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478

NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269

G

G protein-coupled bile acid receptor 1

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

NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168

G

Indian hedgehog signaling molecule

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

NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532

G

microRNA 26b

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

NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680

G

microRNA 375

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

NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985

G

nonhomologous end-joining factor 1

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

NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444

G

obscurin like cytoskeletal adaptor 1

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

NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560

G

phospholipase C, delta 4

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

NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959

G

protein tyrosine phosphatase, receptor type, N

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

NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190

G

regulated endocrine-specific protein 18

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

NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722

G

reticulophagy regulator family member 2

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

NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395

G

ring finger protein 25

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

NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849

G

solute carrier family 11 member 1

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

NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 23, member 3

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

NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366

G

striated muscle enriched protein kinase

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

NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144

G

serine/threonine kinase 16

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

NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855

G

serine/threonine kinase 36

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

NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069

G

transmembrane protein 198

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

NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011

G

tubulin tyrosine ligase like 4

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

NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301

G

tubulin, alpha 4A

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

NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918

G

ubiquitin specific peptidase 37

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

NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044

G

villin 1

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

NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858

G

Wnt family member 10A

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

NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400

G

Wnt family member 6

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

NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523

G

zinc finger AN1-type containing 2B

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

NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445

G

zinc finger protein 142

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

NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856

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

RGD

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929

G

angiotensin II receptor, type 1a

treatment

associated with periodontal disease

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

alkaline phosphatase, biomineralization associated

treatment

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

CTD
RGD

PMID:20630305 PMID:33364953

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

C-C motif chemokine receptor 2

associated with Periodontitis;

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

cathepsin K

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550

G

C-X-C motif chemokine ligand 3

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

RGD

PMID:26270535 PMID:33364953

RGD:11049527, RGD:329956421

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 beta

treatment

associated with periodontal disease

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

treatment

associated with periodontal disease

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

integrin subunit alpha V

treatment

associated with periodontal disease

RGD

NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

RGD

NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

osteoclast associated Ig-like receptor

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 1:65,607,214...65,615,395
Ensembl chr 1:65,607,410...65,613,758

G

poly (ADP-ribose) polymerase 1

RGD

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

peroxisome proliferator-activated receptor gamma

treatment

associated with hypertension, periodontal disease

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

RGD

PMID:26270535 PMID:33364953

RGD:11049527, RGD:329956421

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 11A

treatment

associated with periodontal disease

RGD

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

G

TNF receptor superfamily member 11B

treatment

associated with periodontal disease

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

CTD
RGD

PMID:19249596 PMID:33364953

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

G

vitronectin

treatment

associated with periodontal disease

RGD

NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810

amelogenesis imperfecta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623

G

amelogenin, X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr 5:98,679,071...99,016,044
Ensembl chr 5:98,687,410...99,079,426

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872

G

enamelin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia

PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532

NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425

G

FAM20C, golgi associated secretory pathway kinase

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

RGD

PMID:22732358 PMID:25928877

RGD:11560487, RGD:11560491

NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543

G

family with sequence similarity 83, member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089

G

kallikrein-related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25669657 PMID:35998423

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074

G

RELT, TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949

G

Sp6 transcription factor

RGD

NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229

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
OMIM:612529
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035

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

OMIM:613211
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3

OMIM
MouseDO
CTD
ClinVar

PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 More...

NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229

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 chr14:16,071,835...16,080,151
Ensembl chr14:16,073,058...16,080,129

amelogenesis imperfecta hypomaturation type 2A5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5

PMID:23375655 PMID:24621671 PMID:25741868

NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949

amelogenesis imperfecta type 1A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XVII alpha 1 chain

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

PMID:16199547 PMID:16473856 PMID:17344927 PMID:20301304 PMID:21357940 More...

NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405

amelogenesis imperfecta type 1B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local

NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872

G

enamelin

OMIM:104500
CTD Direct Evidence: marker/mechanism
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

MouseDO
CTD
ClinVar
OMIM
RGD

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

NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229

amelogenesis imperfecta type 1E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin, X-linked

OMIM:301200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth

OMIM
MouseDO
CTD
ClinVar

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

NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660

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:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663

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 chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393

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 chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672

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 chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

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 chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671

amelogenesis imperfecta type 1J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

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

PMID:25741868 PMID:27843125 PMID:28513613

NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623

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 chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1

OMIM
CTD
ClinVar

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

NCBI chr 1:94,344,195...94,349,425
Ensembl chr 1:94,344,195...94,349,424

amelogenesis imperfecta type 2A6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6

PMID:25741868 PMID:27693231

NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089

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 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672

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 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181

amelogenesis imperfecta type 3C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELT, TNF receptor

OMIM:618386
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C

OMIM
MouseDO
ClinVar

PMID:28492532 PMID:30506946 PMID:32052416

NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV

OMIM
CTD
ClinVar

PMID:25741868 PMID:28492532

NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872

amyotrophic lateral sclerosis type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrin 3

OMIM:606070
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2

OMIM
MouseDO
CTD
ClinVar

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

NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166

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 chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398

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

OMIM:106260
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD
RGD

PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More...

NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398

ankyloglossia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing G protein coupled receptor 5

OMIM:106280

NCBI chr 7:51,087,059...51,221,882
Ensembl chr 7:51,088,239...51,222,446

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

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 chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

RGD

NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202

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:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

RGD

NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318

G

inosine triphosphatase

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

PMID:25741868 PMID:26224535 PMID:28492532 PMID:30542205 PMID:30856165 More...

NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249

G

keratinocyte differentiation factor 1

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

NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

RGD

NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

msh homeobox 1

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

CTD
RGD

NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966

G

paired box 9

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

PMID:9536098 PMID:11827258 PMID:12605438 PMID:12786960 PMID:14571272 More...

NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506

G

RAN binding protein 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680

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 chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More...

NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293

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)

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

interleukin 10

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

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

methylenetetrahydrofolate reductase

severity

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

transforming growth factor, beta 1

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

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of

OMIM
CTD
ClinVar

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

NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866

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 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974

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:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

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 chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473

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 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

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 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647

G

N(alpha)-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563

autosomal dominant congenital deafness with onychodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V1 subunit B2

OMIM:124480
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant

OMIM
MouseDO
CTD
ClinVar

PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144

NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745

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
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

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

NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187

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 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422

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

CTD Direct Evidence: marker/mechanism
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
DNA:missense mutations:cds:p.P17T, p.V18P (human)

OMIM
CTD
ClinVar
RGD

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

NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive

OMIM
CTD
ClinVar

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

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

autosomal recessive Robinow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prickle planar cell polarity protein 1

OMIM:268310

NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113

G

receptor tyrosine kinase-like orphan receptor 2

OMIM:268310
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse)

OMIM
MouseDO
ClinVar
CTD
RGD

PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More...

RGD:11537348, RGD:11537347, RGD:11535948

NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152

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 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157

G

ankyrin 2

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

NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

adaptor-related protein complex 1 associated regulatory protein

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

NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013

G

family with sequence similarity 241 member A

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

NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242

G

high mobility group nucleosomal binding domain 2

OMIM:180500

NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
Ensembl chr16:146,192,126...146,195,521

G

La ribonucleoprotein 7, transcriptional regulator

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

NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865

G

neurogenin 2

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

NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154

G

paired-like homeodomain 2

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500

OMIM
ClinVar
MouseDO

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

NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293

G

PR/SET domain 5

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

NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301

G

TRAF-interacting protein with forkhead-associated domain

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

NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841

G

zinc finger, GRF-type containing 1

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

NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750

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 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More...

NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barber-Say syndrome

OMIM
CTD
ClinVar

PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More...

NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE

OMIM
CTD
ClinVar

PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More...

NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799

Bartsocas-Papas Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2

NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065

Basel-Vanagaite-Smirin-Yosef syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 25

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

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

NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877

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 1A

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

RGD

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

angiotensin I converting enzyme

susceptibility
no_association

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

RGD

PMID:15961928 PMID:15045629

RGD:7829810, RGD:8142349

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

catalase

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

CTD
RGD

PMID:12074830 PMID:17206395

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

susceptibility

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

RGD

PMID:19782713 PMID:12712358

RGD:8548882, RGD:8549488

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:123,556,286...123,561,841

G

C-C motif chemokine receptor 5

no_association

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

RGD

PMID:15501397 PMID:15009175 PMID:17067435

RGD:4892106, RGD:8551827, RGD:8551814

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD40 ligand

protein:increased expression:plasma

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cyclin-dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634

G

complement factor B

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

carboxypeptidase B2

RGD

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cytotoxic T-lymphocyte-associated protein 4

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

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 1, subfamily a, polypeptide 1

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

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

7-dehydrocholesterol reductase

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

RGD

NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447

G

coagulation factor V

no_association

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

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 3A

susceptibility

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

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

intercellular adhesion molecule 1

susceptibility
no_association

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

CTD
RGD

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

RGD:8158115, RGD:8547575, RGD:8158123

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interferon gamma

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

RGD

PMID:21334264 PMID:2154346

RGD:8142356, RGD:8142377

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

RGD

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

G

interleukin 10

disease_progression
onset
susceptibility
treatment

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

CTD
RGD

PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 More...

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

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 17A

protein:increased expression:plasma (human)

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

susceptibility
no_association

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

RGD

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

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

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715

G

interleukin 1 beta

protein:increased expression:serum

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

protein:increased expression:serum

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

DNA:polymorphism:promoter (human)

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 21 receptor

RGD

NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522

G

interleukin 23 receptor

susceptibility

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

RGD

PMID:22483685 PMID:20375120

RGD:8549550, RGD:8549565

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 4

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

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

protein:increased secretion:monocyte:

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 8

susceptibility

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

RGD

PMID:26794091 PMID:28592884 PMID:28881647

RGD:329902077, RGD:329955373, RGD:329902079

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

G

integrin subunit alpha 2

susceptibility

RGD

NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

RGD

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600

G

mannose binding lectin 2

severity
susceptibility

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

RGD

PMID:15693089 PMID:15730518

RGD:1582155, RGD:1582154

NCBI chr 1:228,016,439...228,024,736

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

microRNA 155

miRNA:increased expression:peripheral blood mononuclear cell

RGD

PMID:30366049 PMID:27156371

RGD:21409751, RGD:25671481

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

matrix metallopeptidase 2

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

RGD

PMID:22116092 PMID:17949555

RGD:8547820, RGD:8657044

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

RGD

NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520

G

nucleotide-binding oligomerization domain containing 2

susceptibility
no_association

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

PMID:28492532 PMID:19748964 PMID:15515785

RGD:8158059, RGD:13204711

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 3

susceptibility
no_association

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

RGD

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

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

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

paraoxonase 1

protein:decreased activity:serum (human)

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

protein Z, vitamin K-dependent plasma glycoprotein

RGD

NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480

G

proline-serine-threonine phosphatase-interacting protein 1

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

PMID:25741868 PMID:28492532

NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580

G

protein tyrosine phosphatase, non-receptor type 22

no_association

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

RGD

PMID:17660222 PMID:22396730

RGD:6484733, RGD:7829745

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms:cds:multiple (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class I, locus CE13

no_association
disease_progression

DNA:polymorphisms:cds:HLA-B*51 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
DNA:polymorphisms:cds:HLA-B*15 (human)

RGD

PMID:16101830 PMID:11426025 PMID:12622781

RGD:7364873, RGD:7364939, RGD:7364918

NCBI chr20:3,314,830...3,318,106

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism: :DRB1*0802(human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus DMa

no_association

RGD

NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432

G

RT1 class II, locus DMb

no_association

RGD

NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340

G

RT1 class Ib, locus M5

DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)

RGD

NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775

G

serpin family E member 1

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

CTD
RGD

PMID:12074830 PMID:18341631

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

RGD

NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101

G

superoxide dismutase 1

protein:increased activity:serum (human)

RGD

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

signal transducer and activator of transcription 3

no_association

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

RGD

PMID:22205606 PMID:23127549

RGD:6483021, RGD:8694309

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 4

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

CTD
RGD

PMID:23291587 PMID:20438790 PMID:23001997

RGD:8661713, RGD:8661718

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

transforming growth factor, beta 1

DNA:polymorphism:promoter:exon (human)

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

no_association
susceptibility

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

RGD

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

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

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

RGD

NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 4

no_association
susceptibility

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

RGD

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

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

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

no_association

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

RGD

PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 More...

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

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease

PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

vitamin D receptor

no_association

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

RGD

PMID:21820934 PMID:21820934

RGD:8158077, RGD:8158077

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

protein:increased expression:serum

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vimentin

RGD

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

G

von Willebrand factor

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

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)

RGD

NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601

BILATERAL CLEFT LIP

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox C13

Ectodermal dysplasia-9

NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

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

NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555

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

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

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 chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

blepharocheilodontic syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin delta 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2

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

NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516

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 chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818

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
OMIM:601216
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533

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 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750

Burnett Schwartz Berberian Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 1

ClinVar Annotator: match by term: Keratosis pilaris

PMID:25741868 PMID:26142438 PMID:28381441

NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910

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 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343

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 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343

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 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263

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 chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488

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 chr15:95,175,064...95,195,555
Ensembl chr15:95,174,608...95,195,554

CATIFA Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Catifa syndrome

PMID:25741868 PMID:27878435 PMID:31932796

NCBI chr 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863

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 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483

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 chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278

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
OMIM:603284
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More...

NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781

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:deletion:CDS:c.506delA (human)
DNA:mutations:multiple (human)
DNA:SNPs:promoter: (rs9853967, rs11714980) (human)
DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)
DNA:mutations:SNPs, duplications, deletions:multiple (human)
DNA:deletions, nonsense mutations:multiple (human)
OMIM:603285
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

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

RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304

NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018

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 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135

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
OMIM:117650
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:CDS:multiple (human)

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More...

NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339

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 chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,184,677...1,216,392

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821

G

diacylglycerol kinase, theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386

G

family with sequence similarity 193, member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514

G

family with sequence similarity 53, member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

fibroblast growth factor receptor-like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693

G

HAUS augmin-like complex, subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183

G

Max dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221

G

N-acetyltransferase 8-like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,768,145...76,769,661
Ensembl chr14:76,768,146...76,773,575

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,081,313...76,102,454
Ensembl chr14:76,080,793...76,102,453

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450

G

phosphatidylinositol glycan anchor biosynthesis, class G

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463

G

regulator of G-protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596

G

Ras-like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566

G

SH3-domain binding protein 2

ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw
OMIM:118400
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996

G

transforming, acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,051,209...77,065,343
Ensembl chr14:77,051,215...77,065,219

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,065,391...77,070,871
Ensembl chr14:77,065,841...77,070,865

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,228,350...76,245,553
Ensembl chr14:76,228,371...76,275,265

G

UV-stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039

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)

RGD

NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770

G

C-C motif chemokine ligand 2

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 7

disease_progression

protein:increased expression:gingival crevicular fluid, gingvia

RGD

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

C-C motif chemokine receptor 2

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-X-C motif chemokine ligand 12

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

CTD
RGD

PMID:20731768 PMID:21382035

NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues (human)

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

DAB2 interacting protein

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

RGD

NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280

G

desmocollin 1

mRNA:decreased expression:gingival tissues (human)

RGD

NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494

G

desmoglein 1

mRNA:decreased expression:gingival tissues (human)

RGD

NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443

G

estrogen receptor 1

no_association

DNA:polymorphism

RGD

PMID:15324358 PMID:15324358

RGD:10045837, RGD:10045837

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

glutathione S-transferase mu 1

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

interleukin 10

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

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 receptor-like 1

mRNA:increased expression:gingiva

RGD

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 33

mRNA,protein:increased expression:gingiva

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues (human)

RGD

NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

RGD

NCBI chr19:53,959,411...53,997,726
Ensembl chr19:53,959,657...53,997,724

G

microRNA 155

treatment

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

matrix metallopeptidase 1

no_association
severity

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

RGD

PMID:22401717 PMID:15312099 PMID:12622858

RGD:7206856, RGD:7207046, RGD:7207045

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

treatment

mRNA:increased expression:gingival tissues (human)
associated with Atherosclerosis

RGD

PMID:21382035 PMID:24820783

RGD:6480655, RGD:13207324

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

nestin

mRNA:decreased expression:gingival tissues (human)

RGD

NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues (human)

RGD

NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720

G

receptor-interacting serine-threonine kinase 3

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

RGD

NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121

G

toll-like receptor 2

severity

protein:increased expression:gingiva:

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 3

severity

protein:increased expression:gingiva:

RGD

NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 4

severity

protein:increased expression:gingiva:

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 9

severity

protein:increased expression:gingiva:

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

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 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069

G

ADAM metallopeptidase with thrombospondin type 1 motif, 20

Cleft lip with or without cleft palate, ADAMTS20-related

PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248

NCBI chr 7:125,396,227...125,528,020
Ensembl chr 7:125,397,734...125,527,777

G

Rho GTPase activating protein 29

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

NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028

G

betaine-homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475

G

bone morphogenetic protein 4

susceptibility

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

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

RGD:13442495, RGD:13442497

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

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:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 More...

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

catenin delta 1

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

PMID:25741868 PMID:29805042

NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516

G

epithelial splicing regulatory protein 2

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

NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

RGD

NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309

G

Fibroblast growth factor receptor 1

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

CTD
RGD

PMID:17963255 PMID:24613087

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

growth differentiation factor 6

RGD

NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567

G

interferon regulatory factor 6

van der Woude syndrome, OMIM:119300
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
RGD

PMID:17041601 PMID:18836445 PMID:20436469 PMID:25741868 PMID:28492532 More...

NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386

G

kinesin family member 7

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

RGD

NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

RGD

NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility
no_association

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

RGD

PMID:25129243 PMID:18261183

RGD:12910961, RGD:12910962

NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372

G

methylenetetrahydrofolate reductase

susceptibility

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

CTD
RGD

PMID:16470725 PMID:27387868

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

nectin cell adhesion molecule 1

cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060

RGD

NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787

G

noggin

susceptibility

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

RGD

PMID:25339627 PMID:25704602

RGD:12801482, RGD:11251786

NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

netrin 1

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

NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326

G

pleckstrin homology domain containing A5

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

NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546

G

pleckstrin homology domain containing A7

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

NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775

G

protein-O-mannosyltransferase 1

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

RGD

NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

G

syndecan 2

RGD

NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081

G

solute carrier family 19 member 1

susceptibility

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

CTD
RGD

PMID:21254359 PMID:18797703

NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009

G

small ubiquitin-like modifier 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant

NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489

G

tumor protein p63

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant

PMID:16688749 PMID:25741868

NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

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 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850

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