Stomatognathic Diseases - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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

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Rat (1368) Mouse (1360) Human (39692) Chinchilla (1265) Bonobo (1328) Dog (1332) Squirrel (1268) Pig (1310) Green Monkey (1303) Naked Mole-rat (1257) All
Genes (1257)

Stomatognathic Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:17,050,929...17,059,648
Ensembl chrNW_004624767:17,055,509...17,059,705

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:17,353,989...17,360,857
Ensembl chrNW_004624767:17,353,989...17,360,705

ablepharon macrostomia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

twist family bHLH transcription factor 2

ClinVar Annotator: match by term: Ablepharon macrostomia syndrome

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

NCBI chrNW_004624847:3,730,126...3,774,338
Ensembl chrNW_004624847:3,730,291...3,773,773

Abruzzo-Erickson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

T-box transcription factor 22

ClinVar Annotator: match by term: Abruzzo-Erickson syndrome

PMID:839509 PMID:22784330 PMID:25741868

NCBI chrNW_004624836:1,021,089...1,071,069

achalasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aladin WD repeat nucleoporin

NCBI chrNW_004624904:1,419,809...1,432,117
Ensembl chrNW_004624904:1,419,835...1,432,741

G

lamin A/C

OMIM:200400

NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554

G

HLA class II histocompatibility antigen, DQ beta 1 chain

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

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

RGD:14865011 RGD:14974238 RGD:5147806

NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713

G

nitric oxide synthase 1

OMIM:200400

NCBI chrNW_004624747:15,940,614...16,118,051
Ensembl chrNW_004624747:16,003,969...16,113,165

G

sprouty RTK signaling antagonist 2

OMIM:200400

NCBI chrNW_004624751:20,091,612...20,096,581
Ensembl chrNW_004624751:20,091,609...20,096,563

G

vasoactive intestinal peptide receptor 1

onset

DNA:SNP:intron:rs437876 (human)

NCBI chrNW_004624730:77,128,547...77,155,531
Ensembl chrNW_004624730:77,128,649...77,153,750

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

adenoid cystic carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1 (Colton blood group)

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624783:164,615...177,317
Ensembl chrNW_004624783:164,609...177,766

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624775:15,152,840...15,300,160
Ensembl chrNW_004624775:15,152,950...15,301,078

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624791:1,610,169...1,785,512
Ensembl chrNW_004624791:1,610,169...1,785,477

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624798:3,164,145...3,223,810
Ensembl chrNW_004624798:3,165,393...3,225,181

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216

G

ATR serine/threonine kinase

treatment

NCBI chrNW_004624730:19,022,012...19,145,474
Ensembl chrNW_004624730:19,022,070...19,145,306

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532

NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400

G

BCL6 corepressor

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873

G

BCL6 corepressor like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624797:9,211,625...9,283,435
Ensembl chrNW_004624797:9,240,209...9,282,020

G

BRCA1 DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624752:811,457...853,702
Ensembl chrNW_004624752:811,451...854,039

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624746:13,475,463...13,484,063
Ensembl chrNW_004624746:13,475,816...13,484,046

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624773:11,059,466...11,417,825
Ensembl chrNW_004624773:11,059,333...11,417,733

G

CREB binding protein

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624809:9,585,426...9,794,582
Ensembl chrNW_004624809:9,586,225...9,793,208

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624771:17,612,264...17,660,772
Ensembl chrNW_004624771:17,612,284...17,662,405

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624864:1,475,383...1,502,047
Ensembl chrNW_004624864:1,478,059...1,498,066

G

EF-hand domain family member D1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624843:5,346,767...5,377,596

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624732:26,333,642...26,338,450
Ensembl chrNW_004624732:26,333,653...26,337,904

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624815:3,765,261...3,901,309
Ensembl chrNW_004624815:3,768,207...3,852,815

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624904:1,305,040...1,330,505
Ensembl chrNW_004624904:1,305,000...1,330,761

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624746:206,069...253,473
Ensembl chrNW_004624746:215,193...252,569

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624769:17,801,796...17,924,685
Ensembl chrNW_004624769:17,801,894...17,925,191

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Adenocystic carcinoma

NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624836:3,521,170...3,541,844
Ensembl chrNW_004624836:3,521,243...3,541,824

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624733:12,964,893...12,979,198
Ensembl chrNW_004624733:12,964,746...12,976,732

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488

G

growth arrest specific 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624766:13,610,229...13,741,604
Ensembl chrNW_004624766:13,612,702...13,741,606

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624793:385,846...410,934
Ensembl chrNW_004624793:385,812...410,934

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624746:2,109,655...2,116,957
Ensembl chrNW_004624746:2,109,667...2,116,925

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624848:2,522,935...2,588,758
Ensembl chrNW_004624848:2,525,153...2,560,025

G

H1.4 linker histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624756:771,688...772,950
Ensembl chrNW_004624756:772,241...772,903

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624908:1,970,739...1,977,750
Ensembl chrNW_004624908:1,971,064...1,976,152

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004624765:7,806,560...7,825,520

G

insulin like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624823:8,460,968...8,486,495
Ensembl chrNW_004624823:8,460,553...8,486,495

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624822:150,955...219,939
Ensembl chrNW_004624822:150,992...214,107

G

insulin receptor related receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624885:1,971,442...1,987,595
Ensembl chrNW_004624885:1,971,345...1,987,231

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624751:913,127...916,583
Ensembl chrNW_004624751:913,691...916,842

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624908:1,658,512...1,661,507
Ensembl chrNW_004624908:1,658,512...1,661,640

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624801:5,613,752...5,646,046
Ensembl chrNW_004624801:5,613,861...5,650,214

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624791:306,827...589,134
Ensembl chrNW_004624791:365,726...588,870

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624849:2,129,154...2,317,640
Ensembl chrNW_004624849:2,129,357...2,319,538

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072

G

lysine demethylase 6A

exacerbates

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

PMID:23685749 PMID:31483290

RGD:150429732 RGD:150429736

NCBI chrNW_004624887:1,065,173...1,279,660
Ensembl chrNW_004624887:1,065,883...1,279,186

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624786:10,413,670...10,435,118
Ensembl chrNW_004624786:10,425,816...10,433,806

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:31483290

NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624904:655,192...681,046
Ensembl chrNW_004624904:655,080...681,112

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624888:46,089...686,823
Ensembl chrNW_004624888:46,214...687,291

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624739:27,132,533...28,430,765
Ensembl chrNW_004624739:27,134,993...28,430,686

G

mastermind like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624777:19,928,442...20,353,784
Ensembl chrNW_004624777:19,927,024...20,093,002

G

mitogen-activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624856:4,966,545...4,970,226
Ensembl chrNW_004624856:4,967,732...4,969,754

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:22,346,467...22,419,325

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004624730:47,104,929...47,693,885
Ensembl chrNW_004624730:47,104,319...47,284,839

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:8,030,391...8,054,349
Ensembl chrNW_004624828:8,036,450...8,052,151

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624752:653,224...675,875
Ensembl chrNW_004624752:654,076...675,863

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624941:50,651...71,380
Ensembl chrNW_004624941:50,840...70,767

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chrNW_004624886:2,455,704...2,489,593

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624744:24,736,813...24,775,427
Ensembl chrNW_004624744:24,736,861...24,770,884

G

MYC binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624764:21,478,838...21,486,545

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624865:780,163...785,776

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624914:636,348...690,708
Ensembl chrNW_004624914:636,417...690,694

G

nuclear factor I B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624736:18,372,418...18,586,390
Ensembl chrNW_004624736:18,377,624...18,586,424

G

notch receptor 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624733:12,781,693...12,929,861
Ensembl chrNW_004624733:12,786,347...12,927,980

G

neurotrophic receptor tyrosine kinase 3

treatment

NCBI chrNW_004624768:15,239,111...15,619,979
Ensembl chrNW_004624768:15,252,354...15,619,601

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624893:632,514...636,656
Ensembl chrNW_004624893:632,930...636,664

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624772:17,023,837...17,057,160
Ensembl chrNW_004624772:17,022,967...17,057,447

G

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

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624735:7,534,483...7,702,079
Ensembl chrNW_004624735:7,534,506...7,700,305

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624791:13,975,235...14,056,900

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624939:273,448...302,604
Ensembl chrNW_004624939:270,652...302,608

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624752:11,766,033...12,027,804
Ensembl chrNW_004624752:11,765,679...12,022,320

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chrNW_004624889:2,796,351...2,835,592

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624741:19,808,186...20,298,772
Ensembl chrNW_004624741:19,808,255...20,297,056

G

solute carrier family 3 member 2

disease_progression

NCBI chrNW_004624926:1,301,866...1,314,598
Ensembl chrNW_004624926:1,301,584...1,315,707

G

solute carrier family 7 member 5

disease_progression

NCBI chrNW_004624746:1,325,368...1,349,616

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:2,712,524...2,730,028
Ensembl chrNW_004624795:2,714,525...2,729,961

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624909:617,015...668,513
Ensembl chrNW_004624909:630,062...668,512

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624745:21,762,273...21,798,587
Ensembl chrNW_004624745:21,763,010...21,797,817

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624846:4,043,010...4,046,660
Ensembl chrNW_004624846:4,044,893...4,046,248

G

SRY-box transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624756:5,128,848...5,156,174

G

Snf2 related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624782:13,818,019...13,862,379
Ensembl chrNW_004624782:13,817,999...13,862,046

G

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

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624812:503,703...551,907
Ensembl chrNW_004624812:509,841...553,894

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200

G

tousled like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624787:8,489,175...8,651,626
Ensembl chrNW_004624787:8,489,175...8,651,614

G

tumor protein p53

disease_progression

ClinVar Annotator: match by term: Adenocystic carcinoma

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

NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218

G

ubiquitin like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:4,898,786...4,929,136
Ensembl chrNW_004624828:4,898,677...4,929,872

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624743:3,635,086...3,743,332

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624735:11,222,339...11,326,480
Ensembl chrNW_004624735:11,223,227...11,236,609

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

NCBI chrNW_004624741:21,691,099...21,768,267
Ensembl chrNW_004624741:21,691,199...21,767,790

G

zinc finger imprinted 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624832:1,233,119...1,237,814

adenoid squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HNF1 homeobox A

NCBI chrNW_004624747:12,717,713...12,746,040
Ensembl chrNW_004624747:12,717,707...12,746,724

ADULT syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome

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

NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670

aggressive periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMP/retinoic acid inducible neural specific 3

mRNA:increased expression:saliva

NCBI chrNW_004624814:3,092,139...3,502,625
Ensembl chrNW_004624814:3,094,109...3,502,857

G

collagen type I alpha 1 chain

DNA:SNP

NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071

G

C-reactive protein

protein:increased expression:serum:

NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804

G

cathepsin C

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

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

NCBI chrNW_004624845:1,783,807...1,816,471
Ensembl chrNW_004624845:1,783,918...1,815,981

G

interleukin 10

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

PMID:28662328 PMID:28868949

RGD:14975139 RGD:14975264

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

interleukin 1 receptor type 2

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

PMID:18315432 PMID:24818754

RGD:8662884 RGD:8662885

NCBI chrNW_004624749:6,549,112...6,586,409
Ensembl chrNW_004624749:6,511,584...6,586,511

G

interleukin 2

NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453

G

interleukin 6

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

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

G

periostin

OMIM:170650 | OMIM:608526

NCBI chrNW_004624920:542,479...575,760
Ensembl chrNW_004624920:540,750...575,855

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

NCBI chrNW_004624740:7,447,554...7,450,707
Ensembl chrNW_004624740:7,447,554...7,450,641

agnathia-otocephaly complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box H1

OMIM:202650

NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774

G

paired related homeobox 1

ClinVar Annotator: match by term: Agnathia-otocephaly complex

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

NCBI chrNW_004624826:8,361,039...8,435,488
Ensembl chrNW_004624826:8,361,033...8,435,656

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chrNW_004624745:29,959,237...30,031,074
Ensembl chrNW_004624745:29,961,054...30,031,113

alacrima, achalasia, and impaired intellectual development syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angio associated migratory cell protein

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

NCBI chrNW_004624823:6,761,343...6,766,573
Ensembl chrNW_004624823:6,761,254...6,768,545

G

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

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

NCBI chrNW_004624823:5,797,897...5,805,055
Ensembl chrNW_004624823:5,797,943...5,808,448

G

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

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

NCBI chrNW_004624823:5,780,287...5,787,543
Ensembl chrNW_004624823:5,780,484...5,787,007

G

actin related protein 2/3 complex subunit 2

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

NCBI chrNW_004624823:6,774,855...6,804,219

G

acid sensing ion channel subunit family member 4

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

NCBI chrNW_004624823:5,523,166...5,544,982
Ensembl chrNW_004624823:5,523,185...5,544,956

G

autophagy related 9A

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

NCBI chrNW_004624823:5,787,525...5,797,536
Ensembl chrNW_004624823:5,787,601...5,797,534

G

ciliogenesis associated TTC17 interacting protein

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

NCBI chrNW_004624823:6,640,438...6,646,705
Ensembl chrNW_004624823:6,640,326...6,646,680

G

cyclin dependent kinase 5 regulatory subunit 2

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

NCBI chrNW_004624823:6,053,469...6,054,748
Ensembl chrNW_004624823:6,053,550...6,054,659

G

cilia and flagella associated protein 65

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

NCBI chrNW_004624823:5,977,592...6,015,786
Ensembl chrNW_004624823:5,977,554...6,015,868

G

chondroitin polymerizing factor

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

NCBI chrNW_004624823:5,518,382...5,522,997
Ensembl chrNW_004624823:5,518,410...5,525,312

G

CCR4-NOT transcription complex subunit 9

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

NCBI chrNW_004624823:6,449,165...6,484,593
Ensembl chrNW_004624823:6,450,656...6,484,578

G

cyclin Pas1/PHO80 domain containing 1

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

NCBI chrNW_004624823:5,845,147...5,851,831
Ensembl chrNW_004624823:5,845,135...5,851,740

G

crystallin beta A2

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

NCBI chrNW_004624823:6,023,307...6,027,792
Ensembl chrNW_004624823:6,023,350...6,027,806

G

CTD small phosphatase 1

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

NCBI chrNW_004624823:6,603,095...6,608,490
Ensembl chrNW_004624823:6,601,919...6,608,552

G

C-X-C motif chemokine receptor 1

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

NCBI chrNW_004624823:6,857,649...6,861,219
Ensembl chrNW_004624823:6,859,356...6,860,426

G

desmin

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

NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283

G

DnaJ heat shock protein family (Hsp40) member B2

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

NCBI chrNW_004624823:5,730,553...5,737,668
Ensembl chrNW_004624823:5,730,386...5,738,459

G

aspartyl aminopeptidase

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

NCBI chrNW_004624823:5,658,301...5,667,010
Ensembl chrNW_004624823:5,658,379...5,667,010

G

FEV transcription factor, ETS family member

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

NCBI chrNW_004624823:6,032,188...6,036,211
Ensembl chrNW_004624823:6,032,352...6,036,211

G

galactosidase beta 1 like

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

NCBI chrNW_004624823:5,770,049...5,780,343
Ensembl chrNW_004624823:5,770,308...5,780,203

G

GDP-mannose pyrophosphorylase A

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

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

NCBI chrNW_004624823:5,552,044...5,559,037
Ensembl chrNW_004624823:5,550,014...5,559,812

G

G protein-coupled bile acid receptor 1

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

NCBI chrNW_004624823:6,766,816...6,769,490
Ensembl chrNW_004624823:6,766,816...6,769,473

G

Indian hedgehog signaling molecule

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

NCBI chrNW_004624823:5,959,329...5,965,584
Ensembl chrNW_004624823:5,959,448...5,964,769

G

sterol 26-hydroxylase, mitochondrial

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

NCBI chrNW_004624823:6,199,807...6,258,273
Ensembl chrNW_004624823:6,200,047...6,258,001

G

mitochondrial chaperone BCS1

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

NCBI chrNW_004624823:6,392,959...6,397,419
Ensembl chrNW_004624823:6,392,959...6,396,854

G

non-homologous end joining factor 1

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

NCBI chrNW_004624823:5,859,157...5,944,573
Ensembl chrNW_004624823:5,864,003...5,946,583

G

obscurin like cytoskeletal adaptor 1

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

NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202

G

phospholipase C delta 4

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

NCBI chrNW_004624823:6,418,359...6,446,848
Ensembl chrNW_004624823:6,418,922...6,442,418

G

PNKD metallo-beta-lactamase domain containing

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

NCBI chrNW_004624823:6,675,702...6,761,133
Ensembl chrNW_004624823:6,674,917...6,761,025

G

protein kinase AMP-activated non-catalytic subunit gamma 3

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

NCBI chrNW_004624823:6,184,970...6,196,535
Ensembl chrNW_004624823:6,184,801...6,192,654

G

protein tyrosine phosphatase receptor type N

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

NCBI chrNW_004624823:5,710,669...5,734,739
Ensembl chrNW_004624823:5,710,622...5,729,093

G

regulated endocrine specific protein 18

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

NCBI chrNW_004624823:5,688,508...5,693,522

G

reticulophagy regulator family member 2

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

NCBI chrNW_004624823:5,839,760...5,845,053
Ensembl chrNW_004624823:5,839,760...5,844,967

G

ring finger protein 25

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

NCBI chrNW_004624823:6,383,727...6,392,332
Ensembl chrNW_004624823:6,383,813...6,392,332

G

solute carrier family 11 member 1

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

NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300

G

solute carrier family 23 member 3

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

NCBI chrNW_004624823:5,852,164...5,858,938
Ensembl chrNW_004624823:5,852,454...5,858,373

G

striated muscle enriched protein kinase

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

NCBI chrNW_004624823:5,563,687...5,618,786
Ensembl chrNW_004624823:5,564,550...5,618,786

G

serine/threonine kinase 16

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

NCBI chrNW_004624823:5,765,284...5,770,778
Ensembl chrNW_004624823:5,763,171...5,770,587

G

serine/threonine kinase 36

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

NCBI chrNW_004624823:6,359,868...6,383,777
Ensembl chrNW_004624823:6,360,242...6,383,035

G

transmembrane BAX inhibitor motif containing 1

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

NCBI chrNW_004624823:6,736,216...6,757,285
Ensembl chrNW_004624823:6,735,497...6,756,093

G

transmembrane protein 198

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

NCBI chrNW_004624823:5,511,326...5,518,032
Ensembl chrNW_004624823:5,511,475...5,517,681

G

tubulin tyrosine ligase like 4

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

NCBI chrNW_004624823:6,314,177...6,352,236
Ensembl chrNW_004624823:6,310,738...6,352,333

G

ubiquitin specific peptidase 37

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

NCBI chrNW_004624823:6,484,732...6,567,285
Ensembl chrNW_004624823:6,484,772...6,562,990

G

villin 1

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

NCBI chrNW_004624823:6,567,107...6,593,258
Ensembl chrNW_004624823:6,566,687...6,588,599

G

Wnt family member 10A

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

NCBI chrNW_004624823:6,126,238...6,140,764
Ensembl chrNW_004624823:6,128,256...6,140,235

G

Wnt family member 6

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

NCBI chrNW_004624823:6,145,836...6,150,133
Ensembl chrNW_004624823:6,145,545...6,150,181

G

zinc finger AN1-type containing 2B

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

NCBI chrNW_004624823:5,805,147...5,808,500
Ensembl chrNW_004624823:5,805,147...5,808,485

G

zinc finger protein 142

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

NCBI chrNW_004624823:6,397,211...6,417,671

Alveolar Bone Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

treatment

associated with periodontal disease

NCBI chrNW_004624829:344,823...391,451
Ensembl chrNW_004624829:344,933...391,527

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004624828:3,305,913...3,309,983
Ensembl chrNW_004624828:3,307,635...3,310,547

G

angiotensin II receptor type 1

treatment

associated with periodontal disease

NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463

G

angiotensin II receptor type 2

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372

G

alkaline phosphatase, biomineralization associated

treatment

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

PMID:20630305 PMID:33364953

NCBI chrNW_004624764:6,393,741...6,447,739
Ensembl chrNW_004624764:6,393,765...6,447,829

G

cathepsin K

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004624772:19,013,189...19,026,756
Ensembl chrNW_004624772:19,015,835...19,025,588

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

interleukin 1 beta

treatment

associated with periodontal disease

NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760

G

interleukin 6

treatment

associated with periodontal disease

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

G

integrin subunit alpha V

treatment

associated with periodontal disease

NCBI chrNW_004624899:3,235,434...3,292,584
Ensembl chrNW_004624899:3,239,112...3,291,586

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

NCBI chrNW_004624855:2,968,111...3,008,728
Ensembl chrNW_004624855:2,969,444...2,970,421

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713

G

poly(ADP-ribose) polymerase 1

NCBI chrNW_004624807:446,662...478,571
Ensembl chrNW_004624807:446,647...479,069

G

peroxisome proliferator activated receptor gamma

treatment

associated with hypertension, periodontal disease

NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

PMID:26270535 PMID:33364953

RGD:11049527 RGD:329956421

NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531

G

TNF receptor superfamily member 11a

treatment

associated with periodontal disease

NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424

G

TNF receptor superfamily member 11b

treatment

associated with periodontal disease

NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

PMID:19249596 PMID:33364953

NCBI chrNW_004624748:12,527,221...12,555,551
Ensembl chrNW_004624748:12,527,478...12,555,405

G

vitronectin

treatment

associated with periodontal disease

NCBI chrNW_004624786:970,288...973,344
Ensembl chrNW_004624786:966,452...973,337

amelogenesis imperfecta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624832:3,896,782...3,901,312
Ensembl chrNW_004624832:3,897,819...3,901,293

G

amelogenin X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624882:3,072,970...3,083,832
Ensembl chrNW_004624882:3,072,313...3,082,505

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624882:2,706,827...3,211,600
Ensembl chrNW_004624882:2,708,089...3,211,766

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004624736:20,488,854...20,917,614
Ensembl chrNW_004624736:20,491,388...20,916,729

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624740:8,279,416...8,283,730
Ensembl chrNW_004624740:8,278,078...8,283,657

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624831:3,145,445...3,190,498
Ensembl chrNW_004624831:3,146,527...3,185,396

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

NCBI chrNW_004624730:2,569,510...2,599,959

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004624795:6,014,044...6,018,819
Ensembl chrNW_004624795:6,015,523...6,018,684

G

enamelin

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624890:1,970,153...1,982,428
Ensembl chrNW_004624890:1,970,153...1,982,428

G

FAM20C golgi associated secretory pathway kinase

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

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

RGD:11560487 RGD:11560491

NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649

G

family with sequence similarity 83 member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

NCBI chrNW_004624735:13,035,896...13,048,658
Ensembl chrNW_004624735:13,042,060...13,048,658

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624734:11,338,233...11,370,239
Ensembl chrNW_004624734:11,360,053...11,368,757

G

kallikrein related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624832:3,828,676...3,832,025
Ensembl chrNW_004624832:3,828,679...3,831,767

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624807:2,320,168...2,378,349

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

NCBI chrNW_004624814:10,475,629...10,536,694
Ensembl chrNW_004624814:10,476,323...10,536,724

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

NCBI chrNW_004624740:8,212,051...8,233,358
Ensembl chrNW_004624740:8,213,574...8,226,224

G

RELT TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

NCBI chrNW_004624817:3,555,676...3,575,873
Ensembl chrNW_004624817:3,557,002...3,575,933

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

NCBI chrNW_004624734:8,911,376...9,069,054
Ensembl chrNW_004624734:8,911,455...9,063,063

G

Sp6 transcription factor

NCBI chrNW_004624795:4,499,022...4,504,565
Ensembl chrNW_004624795:4,501,141...4,502,280

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

NCBI chrNW_004624731:7,186,570...7,365,900
Ensembl chrNW_004624731:7,205,335...7,367,112

amelogenesis imperfecta hypomaturation type 2A2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 20

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

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

NCBI chrNW_004624878:277,569...320,093
Ensembl chrNW_004624878:277,558...320,093

amelogenesis imperfecta hypomaturation type 2A3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3

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

NCBI chrNW_004624731:7,186,570...7,365,900
Ensembl chrNW_004624731:7,205,335...7,367,112

amelogenesis imperfecta hypomaturation type 2A4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

odontogenesis associated phosphoprotein

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

PMID:22901946 PMID:25741868

NCBI chrNW_004624730:292,466...298,311

amelogenesis imperfecta hypomaturation type 2A5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 24 member 4

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

PMID:23375655 PMID:24621671 PMID:25741868

NCBI chrNW_004624734:8,911,376...9,069,054
Ensembl chrNW_004624734:8,911,455...9,063,063

amelogenesis imperfecta type 1A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XVII alpha 1 chain

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

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

NCBI chrNW_004624831:3,145,445...3,190,498
Ensembl chrNW_004624831:3,146,527...3,185,396

G

laminin subunit beta 3

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

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

NCBI chrNW_004624807:2,320,168...2,378,349

amelogenesis imperfecta type 1B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XVII alpha 1 chain

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

NCBI chrNW_004624831:3,145,445...3,190,498
Ensembl chrNW_004624831:3,146,527...3,185,396

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

NCBI chrNW_004624795:6,014,044...6,018,819
Ensembl chrNW_004624795:6,015,523...6,018,684

G

enamelin

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

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

NCBI chrNW_004624890:1,970,153...1,982,428
Ensembl chrNW_004624890:1,970,153...1,982,428

amelogenesis imperfecta type 1C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enamelin

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

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

NCBI chrNW_004624890:1,970,153...1,982,428
Ensembl chrNW_004624890:1,970,153...1,982,428

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chrNW_004624878:277,569...320,093
Ensembl chrNW_004624878:277,558...320,093

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

NCBI chrNW_004624731:7,186,570...7,365,900
Ensembl chrNW_004624731:7,205,335...7,367,112

amelogenesis imperfecta type 1E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin X-linked

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

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

NCBI chrNW_004624882:3,072,970...3,083,832
Ensembl chrNW_004624882:3,072,313...3,082,505

G

Rho GTPase activating protein 6

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

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

NCBI chrNW_004624882:2,706,827...3,211,600
Ensembl chrNW_004624882:2,708,089...3,211,766

amelogenesis imperfecta type 1F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ameloblastin

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

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

NCBI chrNW_004624890:1,943,471...1,954,948
Ensembl chrNW_004624890:1,942,559...1,954,490

amelogenesis imperfecta type 1G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A golgi associated secretory pathway pseudokinase

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction

PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More...

NCBI chrNW_004624870:3,576,995...3,632,964
Ensembl chrNW_004624870:3,577,386...3,632,967

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction

PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More...

NCBI chrNW_004624870:3,552,608...3,575,461
Ensembl chrNW_004624870:3,552,745...3,574,880

amelogenesis imperfecta type 1H

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 6

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

PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More...

NCBI chrNW_004624732:5,348,589...5,499,826
Ensembl chrNW_004624732:5,403,956...5,499,855

amelogenesis imperfecta type 1J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

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

PMID:25741868 PMID:27843125 PMID:28513613

NCBI chrNW_004624832:3,896,782...3,901,312
Ensembl chrNW_004624832:3,897,819...3,901,293

amelogenesis imperfecta type 1K

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Sp6 transcription factor

NCBI chrNW_004624795:4,499,022...4,504,565
Ensembl chrNW_004624795:4,501,141...4,502,280

amelogenesis imperfecta type 2A1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kallikrein related peptidase 4

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

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

NCBI chrNW_004624832:3,828,676...3,832,025
Ensembl chrNW_004624832:3,828,679...3,831,767

amelogenesis imperfecta type 2A6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 68

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

PMID:25741868 PMID:27693231

NCBI chrNW_004624734:11,338,233...11,370,239
Ensembl chrNW_004624734:11,360,053...11,368,757

amelogenesis imperfecta type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 83 member H

ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta

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

NCBI chrNW_004624735:13,035,896...13,048,658
Ensembl chrNW_004624735:13,042,060...13,048,658

amelogenesis imperfecta type 3A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 83 member H

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

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

NCBI chrNW_004624735:13,035,896...13,048,658
Ensembl chrNW_004624735:13,042,060...13,048,658

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

NCBI chrNW_004624890:1,875,456...1,936,427

amelogenesis imperfecta type 3C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELT TNF receptor

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

PMID:28492532 PMID:30506946 PMID:32052416

NCBI chrNW_004624817:3,555,676...3,575,873
Ensembl chrNW_004624817:3,557,002...3,575,933

amelogenesis imperfecta type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV

PMID:25741868 PMID:28492532

NCBI chrNW_004624795:6,014,044...6,018,819
Ensembl chrNW_004624795:6,015,523...6,018,684

amyotrophic lateral sclerosis type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrin 3

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

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

NCBI chrNW_004624743:32,086,821...32,147,079
Ensembl chrNW_004624743:32,115,544...32,146,921

Ankyloblepharon Filiforme Adnatum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum

NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

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

NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670

ankyloglossia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing G protein-coupled receptor 5

OMIM:106280

NCBI chrNW_004624750:26,185,196...26,302,717
Ensembl chrNW_004624750:26,186,733...26,358,043

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chrNW_004624823:5,491,644...5,518,222
Ensembl chrNW_004624823:5,491,779...5,511,202

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314

anodontia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axin 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

NCBI chrNW_004624870:2,803,743...2,832,489
Ensembl chrNW_004624870:2,800,873...2,832,626

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

NCBI chrNW_004624791:11,313,139...11,316,998
Ensembl chrNW_004624791:11,313,142...11,315,982

G

ectodysplasin A

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

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

NCBI chrNW_004624891:55,310...489,072
Ensembl chrNW_004624891:58,991...488,788

G

ectodysplasin A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chrNW_004624749:11,981,782...11,998,933
Ensembl chrNW_004624749:11,983,550...11,998,918

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624757:1,962,574...1,966,330
Ensembl chrNW_004624757:1,947,032...1,966,352

G

inosine triphosphatase

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

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

NCBI chrNW_004624741:4,312,363...4,341,996
Ensembl chrNW_004624741:4,312,360...4,325,825

G

keratinocyte differentiation factor 1

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

NCBI chrNW_004624764:10,927,426...10,936,771
Ensembl chrNW_004624764:10,927,931...10,936,670

G

E3 SUMO-protein ligase RanBP2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

NCBI chrNW_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

NCBI chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

NCBI chrNW_004624918:2,228,688...2,239,852

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713

G

msh homeobox 1

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

NCBI chrNW_004624755:21,857,360...21,861,235
Ensembl chrNW_004624755:21,857,461...21,861,337

G

paired box 9

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

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

NCBI chrNW_004624838:129,725...147,572
Ensembl chrNW_004624838:133,476...149,636

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

NCBI chrNW_004624838:68,999...129,463
Ensembl chrNW_004624838:75,767...128,843

Anodontia of Permanent Dentition

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Anodontia of permanent dentition

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

NCBI chrNW_004624740:8,734,547...8,740,634
Ensembl chrNW_004624740:8,734,546...8,740,652

anterior segment dysgenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired like homeodomain 2

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

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

NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384

aphthous stomatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeostatic iron regulator

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

NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

NCBI chrNW_004624889:2,736,727...2,746,333

G

interleukin 10

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

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

methylenetetrahydrofolate reductase

severity

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

NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168

G

transforming growth factor beta 1

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

NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605

aplasia of lacrimal and salivary glands

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 10

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

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

NCBI chrNW_004624759:10,904,626...10,983,509
Ensembl chrNW_004624759:10,904,989...10,983,574

Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 3 catalytic subunit alpha

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

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

NCBI chrNW_004624830:6,318,352...6,584,232
Ensembl chrNW_004624830:6,317,968...6,581,892

Au-Kline Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: Au-Kline syndrome

PMID:25741868 PMID:28492532

NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329

G

heterogeneous nuclear ribonucleoprotein K

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

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

NCBI chrNW_004624809:7,538,568...7,548,272

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chrNW_004624747:16,810,123...17,120,758
Ensembl chrNW_004624747:16,810,076...17,118,088

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Okamoto syndrome

PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More...

NCBI chrNW_004624731:5,350,912...5,359,286

AURONEURODENTAL SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronidase 3

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chrNW_004624730:4,154,862...4,160,635
Ensembl chrNW_004624730:4,151,688...4,160,614

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

NCBI chrNW_004624730:4,157,714...4,159,927

autosomal dominant congenital deafness with onychodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V1 subunit B2

ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant

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

NCBI chrNW_004624758:15,910,189...15,933,975
Ensembl chrNW_004624758:15,910,132...15,935,160

autosomal dominant craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANKH inorganic pyrophosphate transport regulator

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

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

NCBI chrNW_004624751:11,716,369...11,847,726
Ensembl chrNW_004624751:11,716,369...11,847,758

G

OTU deubiquitinase with linear linkage specificity

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

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

NCBI chrNW_004624751:11,676,932...11,703,143
Ensembl chrNW_004624751:11,676,850...11,702,061

Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin sialophosphoprotein

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

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

NCBI chrNW_004624872:4,096,001...4,102,392

autosomal recessive craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein alpha 1

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

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

NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313

autosomal recessive Robinow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prickle planar cell polarity protein 1

OMIM:268310

NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994

G

receptor tyrosine kinase like orphan receptor 2

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

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

NCBI chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650

Axenfeld-Rieger syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha kinase 1

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

NCBI chrNW_004624838:6,273,398...6,288,363
Ensembl chrNW_004624838:6,229,899...6,287,920

G

ankyrin 2

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

NCBI chrNW_004624838:6,490,434...7,023,945
Ensembl chrNW_004624838:6,548,159...7,023,945

G

adaptor related protein complex 1 associated regulatory protein

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

NCBI chrNW_004624838:6,129,073...6,157,971
Ensembl chrNW_004624838:6,129,771...6,157,962

G

family with sequence similarity 241 member A

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

NCBI chrNW_004624838:6,036,474...6,068,772

G

high mobility group nucleosomal binding domain 2

OMIM:180500

NCBI chrNW_004624764:10,477,276...10,480,980

G

La ribonucleoprotein 7, transcriptional regulator

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

NCBI chrNW_004624838:6,331,393...6,426,151
Ensembl chrNW_004624838:6,413,494...6,425,939

G

neurogenin 2

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

NCBI chrNW_004624838:6,324,036...6,325,511

G

paired like homeodomain 2

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

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

NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384

G

PR/SET domain 5

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

NCBI chrNW_004624777:675,215...893,125
Ensembl chrNW_004624777:676,965...893,047

G

TRAF interacting protein with forkhead associated domain

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

NCBI chrNW_004624838:6,160,712...6,167,408

Bamforth-Lazarus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624730:43,793,550...43,849,169
Ensembl chrNW_004624730:43,793,040...43,843,519

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

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

NCBI chrNW_004624825:2,979,447...2,981,412
Ensembl chrNW_004624825:2,980,176...2,981,303

Barber-Say syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

twist family bHLH transcription factor 2

ClinVar Annotator: match by term: Barber-Say syndrome

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

NCBI chrNW_004624847:3,730,126...3,774,338
Ensembl chrNW_004624847:3,730,291...3,773,773

Bartsocas-Papas Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor interacting serine/threonine kinase 4

ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE

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

NCBI chrNW_004624745:28,461,948...28,481,721
Ensembl chrNW_004624745:28,461,900...28,481,813

Bartsocas-Papas Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

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

NCBI chrNW_004624737:12,022,081...12,052,128
Ensembl chrNW_004624737:12,022,419...12,052,131

Basel-Vanagaite-Smirin-Yosef syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 25

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

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

NCBI chrNW_004624832:4,483,599...4,503,937
Ensembl chrNW_004624832:4,484,359...4,503,863

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

no_association
susceptibility

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

PMID:15045629 PMID:15961928

RGD:7829810 RGD:8142349

NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521

G

adenosine deaminase 2

ClinVar Annotator: match by term: Behcet's syndrome

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

NCBI chrNW_004624735:10,023,330...10,052,600

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192

G

catalase

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

PMID:12074830 PMID:17206395

NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739

G

CD40 ligand

protein:increased expression:plasma

NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chrNW_004624809:349,453...588,986
Ensembl chrNW_004624809:349,404...579,599

G

complement factor B

NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366

G

carboxypeptidase B2

NCBI chrNW_004624748:8,850,128...8,927,986
Ensembl chrNW_004624748:8,849,900...8,928,853

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804

G

cytotoxic T-lymphocyte associated protein 4

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

NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293

G

7-dehydrocholesterol reductase

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

NCBI chrNW_004624767:16,118,157...16,132,225
Ensembl chrNW_004624767:16,118,052...16,132,834

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624743:15,407,217...15,442,610
Ensembl chrNW_004624743:15,408,485...15,431,967

G

coagulation factor V

no_association

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

NCBI chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

Fc fragment of IgG receptor IIIa

susceptibility

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

NCBI chrNW_004624826:51,387...59,117

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887

G

intercellular adhesion molecule 1

no_association
susceptibility

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

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

RGD:8158115 RGD:8158123 RGD:8547575

NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071

G

interferon gamma

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

PMID:2154346 PMID:21334264

RGD:8142356 RGD:8142377

NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

NCBI chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379

G

interleukin 10

disease_progression
treatment
susceptibility
onset

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

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

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

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

interleukin 17A

protein:increased expression:plasma (human)

NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136

G

interleukin 18

no_association
susceptibility

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

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

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

NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chrNW_004624749:6,875,934...6,909,702
Ensembl chrNW_004624749:6,875,750...6,909,734

G

interleukin 1 beta

protein:increased expression:serum

NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760

G

interleukin 1 receptor antagonist

protein:increased expression:serum

NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890

G

interleukin 2

DNA:polymorphism:promoter (human)

NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453

G

interleukin 21 receptor

NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650

G

interleukin 23 receptor

susceptibility

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

PMID:20375120 PMID:22483685

RGD:8549550 RGD:8549565

NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109

G

interleukin 4

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

NCBI chrNW_004624733:39,412,800...39,420,079

G

interleukin 6

protein:increased secretion:monocyte:

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

G

interferon regulatory factor 8

susceptibility

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

PMID:26794091 PMID:28592884 PMID:28881647

RGD:329902077 RGD:329902079 RGD:329955373

NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455

G

integrin subunit alpha 2

susceptibility

NCBI chrNW_004624759:6,281,698...6,376,702
Ensembl chrNW_004624759:6,281,561...6,376,712

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624782:13,635,217...13,671,401
Ensembl chrNW_004624782:13,640,996...13,669,541

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chrNW_004624782:14,316,505...14,367,841
Ensembl chrNW_004624782:14,318,499...14,367,922

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611

G

HLA class II histocompatibility antigen, DM alpha chain

no_association

NCBI chrNW_004624754:23,752,352...23,765,319
Ensembl chrNW_004624754:23,762,051...23,765,593

G

HLA class II histocompatibility antigen, DM beta chain

no_association

NCBI chrNW_004624754:23,774,013...23,779,851
Ensembl chrNW_004624754:23,773,934...23,779,952

G

HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

DNA:polymorphisms:cds:multiple (human)

NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713

G

cytochrome P450 1A1

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

NCBI chrNW_004627988:7...1,323

G

C-C chemokine receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726

G

mannose binding lectin 2

severity
susceptibility

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

PMID:15693089 PMID:15730518

RGD:1582154 RGD:1582155

NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678

G

matrix metallopeptidase 2

NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

PMID:17949555 PMID:22116092

RGD:8547820 RGD:8657044

NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713

G

nucleotide binding oligomerization domain containing 2

no_association
susceptibility

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

PMID:15515785 PMID:19748964 PMID:28492532

RGD:13204711 RGD:8158059

NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103

G

nitric oxide synthase 3

no_association
susceptibility

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

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

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

NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004

G

paraoxonase 1

protein:decreased activity:serum (human)

NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882

G

protein Z, vitamin K dependent plasma glycoprotein

NCBI chrNW_004624793:745,490...757,886
Ensembl chrNW_004624793:745,579...755,059

G

proline-serine-threonine phosphatase interacting protein 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624894:1,369,242...1,400,765
Ensembl chrNW_004624894:1,368,455...1,400,340

G

protein tyrosine phosphatase non-receptor type 22

no_association

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

PMID:17660222 PMID:22396730

RGD:6484733 RGD:7829745

NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990

G

serpin family E member 1

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

PMID:12074830 PMID:18341631

NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300

G

superoxide dismutase 1

protein:increased activity:serum (human)

NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958

G

signal transducer and activator of transcription 3

no_association

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

PMID:22205606 PMID:23127549

RGD:6483021 RGD:8694309

NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200

G

signal transducer and activator of transcription 4

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

PMID:20438790 PMID:23001997 PMID:23291587

RGD:8661713 RGD:8661718

NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391

G

transforming growth factor beta 1

DNA:polymorphism:promoter:exon (human)

NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605

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)

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

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

NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833

G

toll like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196

G

toll like receptor 4

susceptibility
no_association

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

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

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

NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120

G

tumor necrosis factor

no_association

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

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

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

NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Behcet disease

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

NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711

G

vitamin D receptor

no_association

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

NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514

G

vascular endothelial growth factor A

protein:increased expression:serum

NCBI chrNW_004624754:15,929,414...15,943,637

G

vimentin

NCBI chrNW_004624796:10,624,672...10,632,300
Ensembl chrNW_004624796:10,623,929...10,632,600

G

von Willebrand factor

NCBI chrNW_004624860:2,843,268...2,973,888
Ensembl chrNW_004624860:2,858,088...2,973,052

Bell's palsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidylprolyl isomerase A

exacerbates

protein:increased expression:blood serum (human)

NCBI chrNW_004624740:7,447,554...7,450,707
Ensembl chrNW_004624740:7,447,554...7,450,641

BILATERAL CLEFT LIP

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox C13

Ectodermal dysplasia-9

NCBI chrNW_004624904:1,993,854...2,001,623
Ensembl chrNW_004624904:1,993,854...2,000,500

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chrNW_004624752:19,055,158...19,298,933
Ensembl chrNW_004624752:19,057,767...19,298,772

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chrNW_004624808:6,167,512...6,169,603
Ensembl chrNW_004624808:6,167,512...6,168,891

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

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

NCBI chrNW_004624826:4,064,126...4,118,176

Bisphosphonate-Associated Osteonecrosis of the Jaw

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

treatment

associated with Multiple Myeloma

NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071

blepharocheilodontic syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1

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

NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581

blepharocheilodontic syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin delta 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2

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

NCBI chrNW_004624864:2,953,357...3,000,355
Ensembl chrNW_004624864:2,951,556...3,006,529

BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoglein 3

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

PMID:25741868 PMID:30528827

NCBI chrNW_004624770:1,384,847...1,416,833

brachyolmia-amelogenesis imperfecta syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 3

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

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

NCBI chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624767:20,861,037...20,872,127
Ensembl chrNW_004624767:20,861,039...20,872,090

Braddock-Carey Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 15

ClinVar Annotator: match by term: Braddock-carey syndrome 2

PMID:25741868 PMID:28150392

NCBI chrNW_004624730:75,644,242...75,707,159
Ensembl chrNW_004624730:75,644,163...75,707,043

Burnett Schwartz Berberian Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 1

ClinVar Annotator: match by term: Keratosis pilaris

PMID:25741868 PMID:26142438 PMID:28381441

NCBI chrNW_004624802:10,734,907...10,812,888
Ensembl chrNW_004624802:10,734,263...10,812,763

Carey-Fineman-Ziter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

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

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

NCBI chrNW_004624760:1,934,223...1,941,176
Ensembl chrNW_004624760:1,934,699...1,941,149

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

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

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

NCBI chrNW_004624760:1,934,223...1,941,176
Ensembl chrNW_004624760:1,934,699...1,941,149

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

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

NCBI chrNW_004624754:15,637,322...15,637,883

Catel Manzke syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kynureninase

ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME

PMID:25741868 PMID:31923704 PMID:33942433

NCBI chrNW_004624732:42,627,789...42,751,037
Ensembl chrNW_004624732:42,627,715...42,753,165

G

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome

PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More...

NCBI chrNW_004624879:1,365,464...1,384,726
Ensembl chrNW_004624879:1,366,151...1,384,601

CATIFA Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Catifa syndrome

PMID:25741868 PMID:27878435 PMID:31932796

NCBI chrNW_004624736:10,161,772...10,337,585

Cayler Cardiofacial Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EYA transcriptional coactivator and phosphatase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624744:19,782,174...19,975,496
Ensembl chrNW_004624744:19,782,790...19,977,335

cerebellofaciodental syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRF1 general transcription factor IIIB subunit

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

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

NCBI chrNW_004624734:213,536...280,816
Ensembl chrNW_004624734:213,895...279,777

cerebral cavernous malformation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

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

NCBI chrNW_004624740:7,308,178...7,348,681
Ensembl chrNW_004624740:7,308,177...7,348,689

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chrNW_004624740:7,299,294...7,307,056

cerebral cavernous malformation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

programmed cell death 10

onset
exacerbates

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

OMIM
ClinVar
RGD

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

RGD:401827114 RGD:401827115

NCBI chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745

G

serpin family I member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation 3

PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532

NCBI chrNW_004624730:45,698,714...45,791,744
Ensembl chrNW_004624730:45,739,911...45,795,570

cerebrocostomandibular syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

small nuclear ribonucleoprotein polypeptides B and B1

ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA

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

NCBI chrNW_004624741:3,694,488...3,703,169
Ensembl chrNW_004624741:3,691,676...3,703,255

cherubism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,854,742...24,927,912
Ensembl chrNW_004624755:24,854,742...24,928,006

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,368,644...26,369,719
Ensembl chrNW_004624755:26,368,755...26,369,665

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,265,590...26,286,203
Ensembl chrNW_004624755:26,266,614...26,288,079

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,998,524...26,021,223
Ensembl chrNW_004624755:25,999,713...26,021,331

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,179,099...26,197,764
Ensembl chrNW_004624755:26,179,162...26,189,901

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,454,458...24,478,257
Ensembl chrNW_004624755:24,457,652...24,478,250

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,996,262...25,133,918
Ensembl chrNW_004624755:24,996,270...25,133,961

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,727,989...25,760,774
Ensembl chrNW_004624755:25,713,444...25,760,911

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,134,957...26,145,746
Ensembl chrNW_004624755:26,135,505...26,144,325

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,208,207...26,250,937
Ensembl chrNW_004624755:26,208,334...26,250,533

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,741,985...24,789,972
Ensembl chrNW_004624755:24,742,073...24,830,314

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,316,644...25,327,998
Ensembl chrNW_004624755:25,316,893...25,331,303

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,483,358...24,488,505
Ensembl chrNW_004624755:24,483,431...24,488,450

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,602,955...24,729,584
Ensembl chrNW_004624755:24,603,490...24,729,333

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,151,302...26,169,324
Ensembl chrNW_004624755:26,154,186...26,169,365

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,604,636...25,631,974
Ensembl chrNW_004624755:25,604,454...25,631,716

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,934,569...25,968,726
Ensembl chrNW_004624755:25,934,569...25,968,706

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,851,095...24,854,355

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,590,378...24,602,806
Ensembl chrNW_004624755:24,590,334...24,597,869

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,300,875...25,313,128
Ensembl chrNW_004624755:25,300,712...25,313,243

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,465,154...25,472,906
Ensembl chrNW_004624755:25,468,658...25,472,837

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,498,336...25,508,753
Ensembl chrNW_004624755:25,498,431...25,508,753

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,477,354...25,478,742
Ensembl chrNW_004624755:25,477,323...25,478,735

G

NK1 homeobox 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,896,953...25,900,096
Ensembl chrNW_004624755:25,897,061...25,899,884

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,830,885...24,849,798
Ensembl chrNW_004624755:24,831,023...24,849,778

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,294,675...26,344,864
Ensembl chrNW_004624755:26,294,689...26,326,318

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,372,040...26,413,464
Ensembl chrNW_004624755:26,372,072...26,413,381

G

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,505,042...26,538,392
Ensembl chrNW_004624755:26,505,042...26,538,382

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,316,590...25,464,048
Ensembl chrNW_004624755:25,330,001...25,464,389

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,489,746...24,567,937
Ensembl chrNW_004624755:24,489,966...24,553,505

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624885:1,275,765...1,284,613

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,081,943...26,120,967
Ensembl chrNW_004624755:26,082,378...26,120,655

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,139,637...25,163,586
Ensembl chrNW_004624755:25,141,567...25,153,942

G

SH3 domain binding protein 2

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

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

NCBI chrNW_004624755:24,942,542...24,968,384
Ensembl chrNW_004624755:24,941,813...24,957,004

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,699,977...25,714,348

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,162,730...26,168,443
Ensembl chrNW_004624755:26,164,795...26,169,365

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,356,236...26,361,799
Ensembl chrNW_004624755:26,356,154...26,361,611

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,045,617...26,049,951
Ensembl chrNW_004624755:26,045,493...26,053,476

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,683,314...25,695,102
Ensembl chrNW_004624755:25,683,137...25,692,504

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,694,391...25,699,294
Ensembl chrNW_004624755:25,694,026...25,699,489

G

transmembrane protein 175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,190,547...26,200,512
Ensembl chrNW_004624755:26,190,547...26,207,793

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:24,976,375...24,995,150
Ensembl chrNW_004624755:24,976,361...25,001,397

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,904,273...25,930,564
Ensembl chrNW_004624755:25,903,377...25,930,043

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:25,208,568...25,295,060
Ensembl chrNW_004624755:25,208,627...25,294,197

G

zinc finger protein 721

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chrNW_004624755:26,551,461...26,621,479

Chronic Periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMP/retinoic acid inducible neural specific 3

susceptibility

DNA:SNP: :rs1935881(human)

NCBI chrNW_004624814:3,092,139...3,502,625
Ensembl chrNW_004624814:3,094,109...3,502,857

G

C-X-C motif chemokine ligand 12

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

PMID:20731768 PMID:21382035

NCBI chrNW_004624922:1,261,228...1,273,755
Ensembl chrNW_004624922:1,261,228...1,273,758

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues

NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528

G

DAB2 interacting protein

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

NCBI chrNW_004624760:13,472,500...13,658,070
Ensembl chrNW_004624760:13,472,672...13,657,930

G

desmocollin 1

mRNA:decreased expression:gingival tissues

NCBI chrNW_004624770:1,709,920...1,743,005
Ensembl chrNW_004624770:1,710,170...1,740,454

G

desmoglein 1

mRNA:decreased expression:gingival tissues

NCBI chrNW_004624770:1,514,978...1,551,437
Ensembl chrNW_004624770:1,517,027...1,542,322

G

estrogen receptor 1

no_association

DNA:polymorphism

NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326

G

interleukin 10

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

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

interleukin 1 receptor like 1

mRNA:increased expression:gingiva

NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701

G

interleukin 33

mRNA, protein:increased expression:gingiva

NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues

NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

NCBI chrNW_004624775:16,494,054...16,538,089
Ensembl chrNW_004624775:16,493,949...16,538,025

G

matrix metallopeptidase 1

no_association
severity

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

PMID:12622858 PMID:15312099 PMID:22401717

RGD:7206856 RGD:7207045 RGD:7207046

NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602

G

matrix metallopeptidase 2

treatment

mRNA:increased expression:gingival tissues
associated with Atherosclerosis

PMID:21382035 PMID:24820783

RGD:13207324 RGD:6480655

NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713

G

nestin

mRNA:decreased expression:gingival tissues

NCBI chrNW_004624885:1,837,614...1,845,029
Ensembl chrNW_004624885:1,837,926...1,844,895

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues

NCBI chrNW_004624752:10,589,017...10,620,652
Ensembl chrNW_004624752:10,589,017...10,601,661

G

receptor interacting serine/threonine kinase 3

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

NCBI chrNW_004624820:8,165,546...8,169,172

G

toll like receptor 2

severity

protein:increased expression:gingiva:

NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833

G

toll like receptor 3

severity

protein:increased expression:gingiva:

NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196

G

toll like receptor 4

severity

protein:increased expression:gingiva:

NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624748:12,527,221...12,555,551
Ensembl chrNW_004624748:12,527,478...12,555,405

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514

cleft lip

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468

G

ADAM metallopeptidase with thrombospondin type 1 motif 20

Cleft lip with or without cleft palate, ADAMTS20-related

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

NCBI chrNW_004624816:9,004,691...9,208,434
Ensembl chrNW_004624816:9,004,905...9,208,545

G

Rho GTPase activating protein 29

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

NCBI chrNW_004624742:3,410,123...3,495,300

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624869:3,571,154...3,596,389
Ensembl chrNW_004624869:3,576,369...3,599,275

G

bone morphogenetic protein 4

susceptibility

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

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

RGD:13442495 RGD:13442497

NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743

G

cadherin 1

susceptibility

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

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

NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581

G

catenin delta 1

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

PMID:25741868 PMID:29805042

NCBI chrNW_004624864:2,953,357...3,000,355
Ensembl chrNW_004624864:2,951,556...3,006,529

G

epithelial splicing regulatory protein 2

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

NCBI chrNW_004624746:18,075,755...18,090,011
Ensembl chrNW_004624746:18,075,742...18,085,572

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

NCBI chrNW_004624774:1,779,168...1,867,321
Ensembl chrNW_004624774:1,779,170...1,867,300

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624759:10,904,626...10,983,509
Ensembl chrNW_004624759:10,904,989...10,983,574

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:17,353,989...17,360,857
Ensembl chrNW_004624767:17,353,989...17,360,705

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624731:10,413,715...10,468,660
Ensembl chrNW_004624731:10,413,645...10,468,690

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624776:16,022,118...16,055,413
Ensembl chrNW_004624776:16,019,835...16,055,498

G

fibroblast growth factor receptor 1

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

PMID:17963255 PMID:24613087

NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932

G

growth differentiation factor 6

NCBI chrNW_004624763:3,473,047...3,490,346
Ensembl chrNW_004624763:3,474,671...3,490,297

G

interferon regulatory factor 6

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624807:2,190,721...2,207,183
Ensembl chrNW_004624807:2,193,798...2,206,768

G

kinesin family member 7

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

NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624919:1,337,269...1,340,607
Ensembl chrNW_004624919:1,339,228...1,340,208

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

NCBI chrNW_004624755:21,857,360...21,861,235
Ensembl chrNW_004624755:21,857,461...21,861,337

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility
no_association

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

PMID:18261183 PMID:25129243

RGD:12910961 RGD:12910962

NCBI chrNW_004624734:36,560,486...36,620,043
Ensembl chrNW_004624734:36,560,486...36,620,026

G

methylenetetrahydrofolate reductase

susceptibility

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

PMID:16470725 PMID:27387868

NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168

G

methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624941:856,196...894,057

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806

G

nectin cell adhesion molecule 1

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

NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761

G

noggin

susceptibility

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

PMID:25339627 PMID:25704602

RGD:11251786 RGD:12801482

NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004

G

netrin 1

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

NCBI chrNW_004624786:11,508,643...11,707,060
Ensembl chrNW_004624786:11,526,050...11,703,258

G

pleckstrin homology domain containing A5

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

NCBI chrNW_004624752:19,055,158...19,298,933
Ensembl chrNW_004624752:19,057,767...19,298,772

G

pleckstrin homology domain containing A7

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

NCBI chrNW_004624766:8,421,069...8,655,016
Ensembl chrNW_004624766:8,421,188...8,655,236

G

protein O-mannosyltransferase 1

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

NCBI chrNW_004624760:4,494,701...4,508,735
Ensembl chrNW_004624760:4,495,254...4,508,616

G

patched 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389

G

syndecan 2

NCBI chrNW_004624763:3,809,850...3,920,364
Ensembl chrNW_004624763:3,809,569...3,919,346

G

solute carrier family 19 member 1

susceptibility

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

PMID:18797703 PMID:21254359

NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624751:20,091,612...20,096,581
Ensembl chrNW_004624751:20,091,609...20,096,563

G

small ubiquitin like modifier 1

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

NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624747:6,970,707...6,987,946
Ensembl chrNW_004624747:6,971,289...6,987,440

G

tumor protein p63

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

NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600

CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronidase 2

ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

NCBI chrNW_004624730:4,170,045...4,175,264
Ensembl chrNW_004624730:4,169,742...4,175,242

Cleft Lip with or without Cleft Palate, Nonsyndromic, 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8

PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More...

NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670

cleft lip-palate-ectodermal dysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nectin cell adhesion molecule 1

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

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

NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761

cleft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC membrane recruitment protein 1

ClinVar Annotator: match by term: Cleft palate

NCBI chrNW_004624898:2,704,322...2,731,918
Ensembl chrNW_004624898:2,724,042...2,727,419

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624869:3,571,154...3,596,389
Ensembl chrNW_004624869:3,576,369...3,599,275

G

basonuclin zinc finger protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624736:20,488,854...20,917,614
Ensembl chrNW_004624736:20,491,388...20,916,729

G

calcium/calmodulin dependent serine protein kinase

DNA:insertion
CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844

G

core-binding factor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624746:19,204,415...19,264,217
Ensembl chrNW_004624746:19,204,392...19,264,194

G

cell division cycle 42

NCBI chrNW_004624764:6,874,453...6,891,952

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624737:12,022,081...12,052,128
Ensembl chrNW_004624737:12,022,419...12,052,131

G

collagen type XI alpha 2 chain

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

PMID:20672350 PMID:22112025

RGD:12436724 RGD:12904711

NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591

G

collagen type II alpha 1 chain

susceptibility

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

PMID:15562585 PMID:20672350

NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513

G

discs large MAGUK scaffold protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624730:62,001,547...62,223,098
Ensembl chrNW_004624730:62,002,280...62,223,319

G

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Cleft palate

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624759:10,904,626...10,983,509
Ensembl chrNW_004624759:10,904,989...10,983,574

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:17,353,989...17,360,857
Ensembl chrNW_004624767:17,353,989...17,360,705

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624731:10,413,715...10,468,660
Ensembl chrNW_004624731:10,413,645...10,468,690

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624776:16,022,118...16,055,413
Ensembl chrNW_004624776:16,019,835...16,055,498

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

PMID:17963255 PMID:29526646

NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624755:25,633,690...25,647,361