mouth disease - 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:	mouth disease	go back to main search page
Accession:	DOID:403	browse the term
Definition:	A gastrointestinal system disease that is located_in the mouth. (DO)
Synonyms:	exact_synonym:	mouth diseases
	primary_id:	MESH:D009059
	xref:	EFO:1001047; NCI:C27641; NCI:C3240
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (1018) Mouse (1012) Human (22549) Chinchilla (927) Bonobo (984) Dog (986) Squirrel (934) Pig (972) Green Monkey (964) Naked Mole-rat (920) All
Genes (996) QTL (12) Strains (10)

mouth disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1, DNA repair associated

CTD Direct Evidence: marker/mechanism

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

G

chromatin assembly factor 1 subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654

G

chromatin assembly factor 1 subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070

G

C-reactive protein

protein:increased expression:serum

RGD

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

G

cytochrome P450, family 26, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628

G

DNA-damage-inducible transcript 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105

G

DnaJ heat shock protein family (Hsp40) member A1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967

G

FA complementation group G

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

G

Fibroblast growth factor receptor 1

treatment

RGD

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

G

growth differentiation factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055

G

glutathione synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198

G

heat shock protein family A (Hsp70) member 14

CTD Direct Evidence: marker/mechanism

NCBI chr17:74,728,945...74,749,727
Ensembl chr17:74,728,899...74,749,727

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

ablepharon macrostomia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

twist family bHLH transcription factor 2

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

OMIM
CTD
ClinVar

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

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

Actinic Cheilitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

RGD

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

ADULT syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

aggressive periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMP/retinoic acid inducible neural specific 3

mRNA:increased expression:saliva

RGD

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

G

C-C motif chemokine ligand 2

susceptibility

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

RGD

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

G

C-C motif chemokine receptor 2

susceptibility

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

RGD

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

G

collagen type I alpha 1 chain

DNA:SNP

RGD

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

G

C-reactive protein

protein:increased expression:serum:

RGD

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

G

cathepsin C

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

OMIM
ClinVar
CTD

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

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

G

glutathione S-transferase mu 1

RGD

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

G

glutathione S-transferase theta 1

RGD

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

G

interleukin 10

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

RGD

PMID:28662328 PMID:28868949

RGD:14975139, RGD:14975264

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

G

interleukin 1 receptor type 2

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

RGD

PMID:18315432 PMID:24818754

RGD:8662884, RGD:8662885

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

G

interleukin 2

RGD

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

G

interleukin 6

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

RGD

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

G

periostin

OMIM:170650 | OMIM:608526

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

G

peptidylprolyl isomerase A

protein:increased expression:gingiva (human)

RGD

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

Alveolar Bone Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

treatment

associated with periodontal disease

RGD

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

G

acid phosphatase 5, tartrate resistant

treatment

associated with hypertension, periodontal disease

RGD

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

G

angiotensin II receptor, type 1a

treatment

associated with periodontal disease

RGD

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

G

angiotensin II receptor, type 2

treatment

associated with hypertension, periodontal disease

RGD

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

G

alkaline phosphatase, biomineralization associated

treatment

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

CTD
RGD

PMID:20630305 PMID:33364953

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

G

C-C motif chemokine receptor 2

associated with Periodontitis;

RGD

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

G

cathepsin K

treatment

associated with hypertension, periodontal disease

RGD

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

G

C-X-C motif chemokine ligand 3

treatment

associated with hypertension, periodontal disease

RGD

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

G

interleukin 10

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

RGD

PMID:26270535 PMID:33364953

RGD:11049527, RGD:329956421

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

G

interleukin 1 beta

treatment

associated with periodontal disease

RGD

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

G

interleukin 6

treatment

associated with periodontal disease

RGD

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

G

integrin subunit alpha V

treatment

associated with periodontal disease

RGD

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

G

MAS1 proto-oncogene, G protein-coupled receptor

treatment

associated with periodontal disease

RGD

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

G

matrix metallopeptidase 2

treatment

associated with periodontal disease

RGD

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

G

matrix metallopeptidase 9

treatment

associated with periodontal disease

RGD

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

G

osteoclast associated Ig-like receptor

treatment

associated with hypertension, periodontal disease

RGD

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

G

poly (ADP-ribose) polymerase 1

RGD

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

G

peroxisome proliferator-activated receptor gamma

treatment

associated with hypertension, periodontal disease

RGD

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

G

tumor necrosis factor

treatment

associated with Diabetes Mellitus, Experimental
associated with periodontal disease

RGD

PMID:26270535 PMID:33364953

RGD:11049527, RGD:329956421

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

G

TNF receptor superfamily member 11A

treatment

associated with periodontal disease

RGD

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

G

TNF receptor superfamily member 11B

treatment

associated with periodontal disease

RGD

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

G

TNF superfamily member 11

treatment

CTD Direct Evidence: marker/mechanism
associated with periodontal disease

CTD
RGD

PMID:19249596 PMID:33364953

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

G

vitronectin

treatment

associated with periodontal disease

RGD

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

amelogenesis imperfecta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

amelogenin, X-linked

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

Rho GTPase activating protein 6

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

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

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

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

G

enamelin

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

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

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

G

FAM20C, golgi associated secretory pathway kinase

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

RGD

PMID:22732358 PMID:25928877

RGD:11560487, RGD:11560491

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

G

family with sequence similarity 83, member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

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

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

kallikrein-related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

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

G

latent transforming growth factor beta binding protein 3

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

PMID:25669657 PMID:35998423

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

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

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

G

RELT, TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

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

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

Sp6 transcription factor

RGD

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

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

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

amelogenesis imperfecta hypomaturation type 2A2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 20

OMIM:612529
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2

OMIM
MouseDO
CTD
ClinVar

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

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

amelogenesis imperfecta hypomaturation type 2A3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 72

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

OMIM
MouseDO
CTD
ClinVar

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

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

amelogenesis imperfecta hypomaturation type 2A4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

odontogenesis associated phosphoprotein

ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:22901946 PMID:25741868

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

amelogenesis imperfecta hypomaturation type 2A5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 24 member 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5

OMIM
CTD
ClinVar

PMID:23375655 PMID:24621671 PMID:25741868

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

amelogenesis imperfecta type 1A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XVII alpha 1 chain

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

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

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

G

laminin subunit beta 3

CTD Direct Evidence: marker/mechanism
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

OMIM
CTD
ClinVar

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

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

amelogenesis imperfecta type 1B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

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

G

enamelin

OMIM:104500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B

MouseDO
CTD
ClinVar
OMIM
RGD

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

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

amelogenesis imperfecta type 1C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enamelin

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

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

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

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

amelogenesis imperfecta type 1E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin, X-linked

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

OMIM
MouseDO
CTD
ClinVar

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

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

G

Rho GTPase activating protein 6

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

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

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

amelogenesis imperfecta type 1F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ameloblastin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F

OMIM
CTD
ClinVar

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

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

amelogenesis imperfecta type 1G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A, golgi associated secretory pathway pseudokinase

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

G

protein kinase cAMP-dependent type I regulatory subunit alpha

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

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

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

amelogenesis imperfecta type 1H

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H

OMIM
CTD
ClinVar

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

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

amelogenesis imperfecta type 1J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J

OMIM
CTD
ClinVar

PMID:25741868 PMID:27843125 PMID:28513613

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

amelogenesis imperfecta type 1K

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Sp6 transcription factor

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

amelogenesis imperfecta type 2A1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kallikrein-related peptidase 4

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

OMIM
CTD
ClinVar

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

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

amelogenesis imperfecta type 2A6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 68

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6

OMIM
CTD
ClinVar

PMID:25741868 PMID:27693231

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

amelogenesis imperfecta type 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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA

OMIM
CTD
ClinVar

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

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

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

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

amelogenesis imperfecta type 3C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELT, TNF receptor

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

OMIM
MouseDO
ClinVar

PMID:28492532 PMID:30506946 PMID:32052416

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

amelogenesis imperfecta type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

distal-less homeobox 3

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

OMIM
CTD
ClinVar

PMID:25741868 PMID:28492532

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

Ankyloblepharon Filiforme Adnatum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum

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

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

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

OMIM
MouseDO
ClinVar
CTD
RGD

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

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

ankyloglossia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing G protein coupled receptor 5

OMIM:106280

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

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Ankyloglossia

PMID:25741868 PMID:28492532 PMID:30755392

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

G

ryanodine receptor 1

ClinVar Annotator: match by term: Tongue tie

PMID:16835904 PMID:24033266 PMID:25741868

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

anodontia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axin 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

RGD

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

G

ectodysplasin-A

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

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

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

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

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

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

RGD

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

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

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

G

inosine triphosphatase

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

PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165

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

G

keratinocyte differentiation factor 1

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

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

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

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

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

RGD

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

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

RGD

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

G

msh homeobox 1

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

CTD
RGD

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

G

paired box 9

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

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

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

G

RAN binding protein 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

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

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

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

Anodontia of Permanent Dentition

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Sbds, ribosome maturation factor

ClinVar Annotator: match by term: Anodontia of permanent dentition

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

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

anterior segment dysgenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeodomain 2

ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

aphthous stomatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeostatic iron regulator

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

RGD

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

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:muccal mucosa:

RGD

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

G

interleukin 10

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

RGD

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

G

methylenetetrahydrofolate reductase

severity

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

RGD

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

G

transforming growth factor, beta 1

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

RGD

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

aplasia of lacrimal and salivary glands

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 10

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

OMIM
CTD
ClinVar

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

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

Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 3 catalytic subunit alpha

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

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

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

Au-Kline Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: Au-Kline syndrome

PMID:25741868 PMID:28492532

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

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

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

G

heterogeneous nuclear ribonucleoprotein K

ClinVar Annotator: match by term: Au-Kline syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

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

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Au-Kline syndrome

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

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

autosomal dominant congenital deafness with onychodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V1 subunit B2

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

OMIM
MouseDO
CTD
ClinVar

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

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

Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)

OMIM
CTD
ClinVar
RGD

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

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

Axenfeld-Rieger syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-kinase 1

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

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

G

ankyrin 2

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

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

G

adaptor-related protein complex 1 associated regulatory protein

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

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

G

family with sequence similarity 241 member A

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

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

G

forkhead box C1

CTD Direct Evidence: marker/mechanism

NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803

G

high mobility group nucleosomal binding domain 2

OMIM:180500

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

G

La ribonucleoprotein 7, transcriptional regulator

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

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

G

neurogenin 2

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

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

G

paired box 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014

G

paired-like homeodomain 2

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:10502778 More...

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

G

PR/SET domain 5

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

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

G

TRAF-interacting protein with forkhead-associated domain

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

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

G

zinc finger, GRF-type containing 1

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

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

Bamforth-Lazarus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

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

G

forkhead box E1

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

OMIM
ClinVar
MouseDO
CTD

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

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

Barber-Say syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

twist family bHLH transcription factor 2

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

OMIM
CTD
ClinVar

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

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

Bartsocas-Papas Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor-interacting serine-threonine kinase 4

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

OMIM
CTD
ClinVar

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

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

Bartsocas-Papas Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

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

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

Basel-Vanagaite-Smirin-Yosef syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 25

ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More...

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

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

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

RGD

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

G

angiotensin I converting enzyme

susceptibility
no_association

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

RGD

PMID:15961928 PMID:15045629

RGD:7829810, RGD:8142349

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

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

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

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

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

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

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

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

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

G

catalase

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

CTD
RGD

PMID:12074830 PMID:17206395

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

G

C-C motif chemokine ligand 2

susceptibility

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

RGD

PMID:19782713 PMID:12712358

RGD:8548882, RGD:8549488

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

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

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

G

C-C motif chemokine receptor 5

no_association

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

RGD

PMID:15501397 PMID:15009175 PMID:17067435

RGD:4892106, RGD:8551827, RGD:8551814

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

G

CD40 ligand

protein:increased expression:plasma

RGD

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

G

cyclin-dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

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

G

complement factor B

RGD

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

G

carboxypeptidase B2

RGD

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

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

RGD

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

G

cytotoxic T-lymphocyte-associated protein 4

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

RGD

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

G

cytochrome P450, family 1, subfamily a, polypeptide 1

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

RGD

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

G

7-dehydrocholesterol reductase

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

RGD

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

G

endothelin 1

protein:increased expression:plasma (human)

RGD

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

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

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

G

coagulation factor V

no_association

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

RGD

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

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

RGD

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

G

Fc gamma receptor 3A

susceptibility

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

RGD

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

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

RGD

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

G

intercellular adhesion molecule 1

susceptibility
no_association

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

CTD
RGD

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

RGD:8158115, RGD:8547575, RGD:8158123

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

G

interferon gamma

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

RGD

PMID:21334264 PMID:2154346

RGD:8142356, RGD:8142377

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

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

RGD

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

G

interleukin 10

disease_progression
onset
susceptibility
treatment

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

CTD
RGD

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

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

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

G

interleukin 17A

protein:increased expression:plasma (human)

RGD

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

G

interleukin 18

susceptibility
no_association

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

RGD

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

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

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

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

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

G

interleukin 1 beta

protein:increased expression:serum

RGD

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

G

interleukin 1 receptor antagonist

protein:increased expression:serum

RGD

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

G

interleukin 2

DNA:polymorphism:promoter (human)

RGD

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

G

interleukin 21 receptor

RGD

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

G

interleukin 23 receptor

susceptibility

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

RGD

PMID:22483685 PMID:20375120

RGD:8549550, RGD:8549565

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

G

interleukin 4

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

RGD

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

G

interleukin 6

protein:increased secretion:monocyte:

RGD

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

G

interferon regulatory factor 8

susceptibility

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

RGD

PMID:26794091 PMID:28592884 PMID:28881647

RGD:329902077, RGD:329955373, RGD:329902079

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

G

integrin subunit alpha 2

susceptibility

RGD

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

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

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

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

RGD

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

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

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

G

mannose binding lectin 2

severity
susceptibility

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

RGD

PMID:15693089 PMID:15730518

RGD:1582155, RGD:1582154

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

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

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

G

microRNA 155

miRNA:increased expression:peripheral blood mononuclear cell

RGD

PMID:30366049 PMID:27156371

RGD:21409751, RGD:25671481

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

G

matrix metallopeptidase 2

RGD

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

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

RGD

PMID:22116092 PMID:17949555

RGD:8547820, RGD:8657044

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

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

RGD

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

G

nucleotide-binding oligomerization domain containing 2

susceptibility
no_association

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

PMID:28492532 PMID:19748964 PMID:15515785

RGD:8158059, RGD:13204711

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

G

nitric oxide synthase 3

susceptibility
no_association

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

RGD

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

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

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

G

paraoxonase 1

protein:decreased activity:serum (human)

RGD

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

G

protein Z, vitamin K-dependent plasma glycoprotein

RGD

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

G

proline-serine-threonine phosphatase-interacting protein 1

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

PMID:25741868 PMID:28492532

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

G

protein tyrosine phosphatase, non-receptor type 22

no_association

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

RGD

PMID:17660222 PMID:22396730

RGD:6484733, RGD:7829745

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

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms:cds:multiple (human)

RGD

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

G

RT1 class I, locus CE13

no_association
disease_progression

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

RGD

PMID:16101830 PMID:11426025 PMID:12622781

RGD:7364873, RGD:7364939, RGD:7364918

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

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism: :DRB1*0802(human)

RGD

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

G

RT1 class II, locus DMa

no_association

RGD

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

G

RT1 class II, locus DMb

no_association

RGD

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

G

RT1 class Ib, locus M5

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

RGD

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

G

serpin family E member 1

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

CTD
RGD

PMID:12074830 PMID:18341631

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

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

RGD

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

G

superoxide dismutase 1

protein:increased activity:serum (human)

RGD

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

G

signal transducer and activator of transcription 3

no_association

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

RGD

PMID:22205606 PMID:23127549

RGD:6483021, RGD:8694309

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

G

signal transducer and activator of transcription 4

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

CTD
RGD

PMID:23291587 PMID:20438790 PMID:23001997

RGD:8661713, RGD:8661718

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

G

transforming growth factor, beta 1

DNA:polymorphism:promoter:exon (human)

RGD

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

G

toll-like receptor 2

no_association
susceptibility

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

RGD

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

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

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

G

toll-like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

RGD

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

G

toll-like receptor 4

no_association
susceptibility

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

RGD

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

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

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

G

tumor necrosis factor

no_association

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

RGD

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

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

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

G

TNF receptor superfamily member 1A

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

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

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

G

vitamin D receptor

no_association

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

RGD

PMID:21820934 PMID:21820934

RGD:8158077, RGD:8158077

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

G

vascular endothelial growth factor A

protein:increased expression:serum

RGD

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

G

vimentin

RGD

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

G

von Willebrand factor

RGD

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

Bell's palsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidylprolyl isomerase A

exacerbates

protein:increased expression:blood serum (human)

RGD

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

BILATERAL CLEFT LIP

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox C13

Ectodermal dysplasia-9

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

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

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

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

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

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

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

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

blepharocheilodontic syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1

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

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

blepharocheilodontic syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin delta 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2

PMID:25741868 PMID:28301459 PMID:29805042

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

BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoglein 3

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

PMID:25741868 PMID:30528827

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

brachyolmia-amelogenesis imperfecta syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6
OMIM:601216
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

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

G

SCY1 like pseudokinase 1

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

PMID:25741868 PMID:28492532

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

Burnett Schwartz Berberian Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 1

ClinVar Annotator: match by term: Keratosis pilaris

PMID:25741868 PMID:26142438 PMID:28381441

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

Carey-Fineman-Ziter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

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

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

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

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

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

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

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

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

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

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

G

RNA polymerase I and III subunit C

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

NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852

CATIFA Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Catifa syndrome

PMID:25741868 PMID:27878435 PMID:31932796

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

Cayler Cardiofacial Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EYA transcriptional coactivator and phosphatase 1

CTD Direct Evidence: marker/mechanism

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

cerebellofaciodental syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRF1, RNA polymerase III transcription initiation factor subunit

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome

OMIM
CTD
ClinVar

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

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

Chronic Periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMP/retinoic acid inducible neural specific 3

susceptibility

DNA:SNP: :rs1935881(human)

RGD

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

G

C-C motif chemokine ligand 2

RGD

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

G

C-C motif chemokine ligand 7

disease_progression

protein:increased expression:gingival crevicular fluid, gingvia

RGD

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

G

C-C motif chemokine receptor 2

RGD

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

G

C-X-C motif chemokine ligand 12

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

CTD
RGD

PMID:20731768 PMID:21382035

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

G

C-X-C motif chemokine receptor 4

mRNA:increased expression:gingival tissues (human)

RGD

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

G

DAB2 interacting protein

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

RGD

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

G

desmocollin 1

mRNA:decreased expression:gingival tissues (human)

RGD

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

G

desmoglein 1

mRNA:decreased expression:gingival tissues (human)

RGD

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

G

estrogen receptor 1

no_association

DNA:polymorphism

RGD

PMID:15324358 PMID:15324358

RGD:10045837, RGD:10045837

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

G

glutathione S-transferase mu 1

RGD

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

G

interleukin 10

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

RGD

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

G

interleukin 1 receptor-like 1

mRNA:increased expression:gingiva

RGD

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

G

interleukin 33

mRNA,protein:increased expression:gingiva

RGD

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

G

integrin subunit beta 2

mRNA:increased expression:gingival tissues (human)

RGD

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

G

potassium two pore domain channel subfamily K member 1

DNA:SNP:CDS:rs11800854 (human)

RGD

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

G

microRNA 155

treatment

RGD

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

G

matrix metallopeptidase 1

no_association
severity

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

RGD

PMID:22401717 PMID:15312099 PMID:12622858

RGD:7206856, RGD:7207046, RGD:7207045

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

G

matrix metallopeptidase 2

treatment

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

RGD

PMID:21382035 PMID:24820783

RGD:6480655, RGD:13207324

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

G

matrix metallopeptidase 9

treatment

associated with Atherosclerosis

RGD

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

G

nestin

mRNA:decreased expression:gingival tissues (human)

RGD

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

G

Rac family small GTPase 2

mRNA:increased expression:gingival tissues (human)

RGD

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

G

receptor-interacting serine-threonine kinase 3

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

RGD

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

G

toll-like receptor 2

severity

protein:increased expression:gingiva:

RGD

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

G

toll-like receptor 3

severity

protein:increased expression:gingiva:

RGD

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

G

toll-like receptor 4

severity

protein:increased expression:gingiva:

RGD

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

G

toll-like receptor 9

severity

protein:increased expression:gingiva:

RGD

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

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

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

G

vitamin D receptor

susceptibility

DNA:SNP:exon:rs731236(human)

RGD

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

cleft lip

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 4

CTD Direct Evidence: marker/mechanism

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

G

ADAM metallopeptidase with thrombospondin type 1 motif, 20

Cleft lip with or without cleft palate, ADAMTS20-related

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

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

G

Rho GTPase activating protein 29

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

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

G

betaine-homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

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

G

bone morphogenetic protein 4

susceptibility

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

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

RGD:13442495, RGD:13442497

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

G

cadherin 1

susceptibility

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

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

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

G

catenin delta 1

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

PMID:25741868 PMID:29805042

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

G

epithelial splicing regulatory protein 2

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

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

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

RGD

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

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

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

G

Fibroblast growth factor receptor 1

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

CTD
RGD

PMID:17963255 PMID:24613087

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

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

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

G

growth differentiation factor 6

RGD

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

G

interferon regulatory factor 6

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

MouseDO
ClinVar
CTD
RGD

PMID:17041601 PMID:18836445 PMID:20436469 PMID:28492532 PMID:12219090

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

G

kinesin family member 7

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

RGD

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

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

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

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

RGD

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

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility
no_association

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

RGD

PMID:25129243 PMID:18261183

RGD:12910961, RGD:12910962

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

G

methylenetetrahydrofolate reductase

susceptibility

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

CTD
RGD

PMID:16470725 PMID:27387868

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

G

methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

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

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

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

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

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

G

nectin cell adhesion molecule 1

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

RGD

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

G

noggin

susceptibility

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

RGD

PMID:25339627 PMID:25704602

RGD:12801482, RGD:11251786

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

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

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

G

netrin 1

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

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

G

pleckstrin homology domain containing A5

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

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

G

pleckstrin homology domain containing A7

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

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

G

protein-O-mannosyltransferase 1

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

RGD

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

G

patched 1

CTD Direct Evidence: marker/mechanism

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

G

syndecan 2

RGD

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

G

solute carrier family 19 member 1

susceptibility

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

CTD
RGD

PMID:21254359 PMID:18797703

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

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

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

G

small ubiquitin-like modifier 1

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

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

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p63

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

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

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

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

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

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

cleft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC membrane recruitment protein 1

ClinVar Annotator: match by term: Cleft palate

NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440

G

betaine-homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

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

G

basonuclin zinc finger protein 2

CTD Direct Evidence: marker/mechanism

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

G

calcium/calmodulin dependent serine protein kinase

CTD Direct Evidence: marker/mechanism
DNA:insertion

CTD
RGD

PMID:9787075 PMID:9787075

NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694

G

core-binding factor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751

G

cell division cycle 42

NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

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

G

collagen type XI alpha 2 chain

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

RGD

PMID:20672350 PMID:22112025

RGD:12436724, RGD:12904711

NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985

G

collagen type II alpha 1 chain

susceptibility

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

CTD
RGD

PMID:15562585 PMID:20672350

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

discs large MAGUK scaffold protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689

G

dynein, axonemal, heavy chain 11

ClinVar Annotator: match by term: Cleft palate

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

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

G

Fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

PMID:17963255 PMID:29526646

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

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

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

G

filamin A

ClinVar Annotator: match by term: Cleft palate

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

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

filamin B

susceptibility

DNA:SNPs::

RGD

NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006

G

frizzled class receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724

G

GATA binding protein 6

protein:decreased expression:secondary palatal shelf (mouse)

RGD

NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532

G

growth differentiation factor 6

RGD

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

G

GLI family zinc finger 3

RGD

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

G

G protein subunit beta 1

ClinVar Annotator: match by term: Cleft palate

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More...

NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124

G

golgin B1

NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770

G

grainyhead-like transcription factor 3

ClinVar Annotator: match by term: nonsyndromic cleft palate

NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160

G

inositol polyphosphate-1-phosphatase

ClinVar Annotator: match by term: Cleft palate

NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793

G

interferon regulatory factor 6

van der Woude syndrome, OMIM:119300
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350

RGD:1600214, RGD:12436724

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

G

kinesin family member 7

CTD Direct Evidence: marker/mechanism

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

G

maternally expressed 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:128,491,808...128,524,010

G

Meis homeobox 2

DNA:mutations:cds:multiples

RGD

NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696

G

MAX network transcriptional repressor

CTD Direct Evidence: marker/mechanism

NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959

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

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

DNA:SNP:cds:1958 G>A (rs2236225)(human)

RGD

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

G

methenyltetrahydrofolate synthetase

CTD Direct Evidence: marker/mechanism

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

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

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

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

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

G

myosin XIX

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:28492532

NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450

G

nectin cell adhesion molecule 1

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

RGD

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

G

NEDD4 like E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137

G

NIMA-related kinase 9

ClinVar Annotator: match by term: Cleft palate

NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

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

G

paired box 9

RGD

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

G

platelet derived growth factor receptor alpha

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: nonsyndromic cleft palate

PMID:18264099 PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 More...

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

post-GPI attachment to proteins phospholipase 3

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:30345601

NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628

G

phosphatidylinositol glycan anchor biosynthesis, class W

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:28492532

NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475

G

paired-like homeodomain 2

RGD

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

G

protein arginine methyltransferase 1

NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345

G

patched 1

CTD Direct Evidence: marker/mechanism

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

G

retinoic acid receptor, gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177

G

arginine-glutamic acid dipeptide repeats

RGD

NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677

G

receptor tyrosine kinase-like orphan receptor 2

susceptibility

DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human)

RGD

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

G

receptor-like tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698

G

SATB homeobox 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate

PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 More...

NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707

G

syndecan 2

RGD

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

G

sonic hedgehog signaling molecule

RGD

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

SHOX homeobox 2

RGD

NCBI chr 2:151,217,049...151,227,180
Ensembl chr 2:151,217,552...151,227,143

G

SIM bHLH transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663

G

SIX homeobox 2

NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193

G

solute carrier family 19 member 1

CTD Direct Evidence: marker/mechanism

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

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

ClinVar Annotator: match by term: Cleft palate

PMID:22426308 PMID:25741868 PMID:28973083

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Cleft palate

PMID:23757202 PMID:25741868 PMID:28492532

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

G

sperm antigen with calponin homology and coiled-coil domains 1-like

NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

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

G

small ubiquitin-like modifier 1

CTD Direct Evidence: marker/mechanism

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

G

T-box transcription factor 1

RGD

PMID:30121012 PMID:25556186

RGD:155631306, RGD:155641231

NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380

G

T-box transcription factor 22

cleft palate with ankyloglossia, OMIM:303400

RGD

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

G

teneurin transmembrane protein 4

ClinVar Annotator: match by term: Cleft palate

NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

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

G

transforming growth factor, beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405

G

transforming growth factor, beta 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:7493022 PMID:26971374 PMID:17097601

NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Cleft palate

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

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

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: Cleft palate

PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More...

NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

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

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

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

Cleft Palate with Ankyloglossia

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: Cleft palate with ankyloglossia

PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330

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

cleft palate, cardiac defects, and intellectual disabillity

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Meis homeobox 2

ClinVar Annotator: match by term: CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More...

NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696

Cleft Palate, Proliferative Retinopathy, and Developmental Delay

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 32

ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay

PMID:25741868 PMID:30976112

NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 1A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies

OMIM
CTD
ClinVar

PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More...

NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319

cleft palate-lateral synechia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

OMIM:119550

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

cleft soft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

procollagen lysine, 2-oxoglutarate 5-dioxygenase 2

ClinVar Annotator: match by term: Cleft soft palate

PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More...

NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255

G

transforming growth factor, beta receptor 2

OMIM:119570

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

CODAS syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lon peptidase 1, mitochondrial

ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: LONP1-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 More...

NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771

Cone Rod Dystrophy Amelogenesis Imperfecta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin and CBS domain divalent metal cation transport mediator 4

ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta

PMID:25741868 PMID:28492532

NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942

Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)

OMIM
CTD
ClinVar

PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More...

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

Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin, beta 6 class V

ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction

PMID:25741868 PMID:29016863

NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418

congenital heart defects, hamartomas of tongue, and polysyndactyly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat containing planar cell polarity effector

ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More...

NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113

Congenital Macroglossia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydropyrimidine dehydrogenase

ClinVar Annotator: match by term: Giant tongue

PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More...

NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Giant tongue

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

congenital symmetric circumferential skin creases 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin, beta 5 class I

ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition

PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More...

NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940

congenital symmetric circumferential skin creases 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microtubule-associated protein, RP/EB family, member 2

ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2

PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:31903734

NCBI chr18:15,028,675...15,169,553
Ensembl chr18:15,029,041...15,168,044

Craniosynostosis and Dental Anomalies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 11 receptor subunit alpha 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies

OMIM
CTD
ClinVar

PMID:21741611 PMID:25741868 PMID:34906502

NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408

dental caries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL6 co-repressor

susceptibility

DNA:SNP: : rs17145638(human)

RGD

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

G

interleukin 1 beta

DNA:SNP: :rs1143627C>T (human)

RGD

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

G

RT1 class II, locus Bb

RGD

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

dental enamel hypoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

RGD

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang

RGD

G

cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang

RGD

dental fluorosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1-like

mRNA, protein:increased expression:frontal cortex (rat)

RGD

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

G

fission, mitochondrial 1

mRNA, protein:increased expression:kidney (rat)

RGD

NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377

G

mitofusin 1

mRNA, protein:decreased expression:frontal cortex (rat)

RGD

NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640

dental pulp calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin sialophosphoprotein

ClinVar Annotator: match by term: Denticles | ClinVar Annotator: match by term: Pulpal dysplasia

PMID:12354781 PMID:18456718 PMID:25741868 PMID:26788535 PMID:28492532

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

Dental Pulp Exposure

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD86 molecule

mRNA:increased expression:thalamus (rat)
mRNA:increased expression:periodontal ligament (rat)

RGD

PMID:20171363 PMID:20113783

RGD:4892246, RGD:4892210

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

hyperpolarization-activated cyclic nucleotide-gated potassium channel 1

protein:increased expression:neuron:

RGD

NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774

G

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

protein:increased expression:neuron:

RGD

NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841

G

hyperpolarization-activated cyclic nucleotide-gated potassium channel 3

protein:increased expression:neuron:

RGD

NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966

G

optineurin

mRNA:increased expression:dental pulp (rat)

RGD

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

G

S100 calcium binding protein B

protein:increased expression:brain, astrocyte

RGD

NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743

dentin dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin sialophosphoprotein

mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN

PMID:25741868 PMID:28492532 PMID:11116156

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

G

ssu-2 homolog

OMIM:125400 | OMIM:125420

NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735

Dentin Dysplasia, Type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SPARC related modular calcium binding 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth

OMIM
CTD
ClinVar

PMID:22152679 PMID:23317772 PMID:25741868

NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693

Dentin Dysplasia, Type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II

OMIM
CTD
ClinVar

PMID:25741868 PMID:28492532

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

dentinogenesis imperfecta

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta

PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More...

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

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Dentinogenesis imperfecta

PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 More...

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

dentin sialophosphoprotein

mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin
OMIM:125490 | OMIM:125500
CTD Direct Evidence: marker/mechanism
DNA:snp:intron:g.87612175G>A (human)

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:16199547 More...

RGD:734904, RGD:12910984

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

Dentinogenesis Imperfecta, Shields Type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta
DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)

OMIM
CTD
ClinVar
RGD

PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 More...

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

DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SATB homeobox 1

ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition

PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754

NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251

Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoplakin

ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More...

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

distal arthrogryposis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

piezo-type mechanosensitive ion channel component 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome

OMIM
CTD
ClinVar

PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More...

NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216

Dysmyelinating Leukodystrophy with Oligodontia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Dentoleukoencephalopathy

PMID:614258 PMID:20640464 PMID:21855841 PMID:22855961 PMID:25339210 More...

NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172

G

RNA polymerase III subunit B

ClinVar Annotator: match by term: Dentoleukoencephalopathy

PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More...

NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598

G

thymidine phosphorylase

ClinVar Annotator: match by term: Dentoleukoencephalopathy

PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

ectodermal dysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectodysplasin-A

ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More...

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

G

ectodysplasin A2 receptor

ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia

NCBI chr X:62,224,763...62,269,333
Ensembl chr X:62,228,229...62,269,268

G

mevalonate kinase

ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic

NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882

ectodermal dysplasia 10A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 138

ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More...

NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More...

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

G

EDAR associated via death domain

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921

NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447

G

GRIP and coiled-coil domain containing 2

ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More...

NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613

G

LIM zinc finger domain containing 1

ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More...

NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500

G

RAN binding protein 2

ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant

PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More...

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

G

solute carrier family 5 member 7

ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More...

NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258

G

sulfotransferase family 1C member 2A

ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More...

NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734

G

sulfotransferase family 1C member 3

ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More...

NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030

ectodermal dysplasia 10B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 138

ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376

G

ectodysplasin-A receptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

OMIM
CTD
ClinVar

PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More...

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

G

EDAR associated via death domain

ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism

NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447

G

RAN binding protein 2

ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More...

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

ectodermal dysplasia 11A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EDAR associated via death domain

ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More...

NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447

ectodermal dysplasia 11B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More...

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

G

EDAR associated via death domain

ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive

PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More...

NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447

G

RAN binding protein 2

ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More...

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

ectodermal dysplasia 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratinocyte differentiation factor 1

ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:27838789 PMID:28492532

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

ectodermal dysplasia 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cystatin E/M

ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type

PMID:25741868 PMID:30425301

NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030

ectodermal dysplasia and immune deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY

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

ectodermal dysplasia and immunodeficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:

OMIM
ClinVar
CTD
RGD

PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More...

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

ectodermal dysplasia and immunodeficiency 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain adjacent to zinc finger domain, 1A

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2

NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459

G

cofilin 2

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2

NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674

G

family with sequence similarity 177, member A1

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2

NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553

G

NFKB inhibitor alpha

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More...

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

protein phosphatase 2, regulatory subunit B'', gamma

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2

NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491

G

protein only RNase P catalytic subunit

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2

NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416

G

proteasome 20S subunit alpha 6

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2

NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554

G

signal recognition particle 54A

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2

NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

susceptibility

DNA:frameshift mutation, missense mutations: :multiple
OMIM:604292
ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)

MouseDO
ClinVar
CTD
OMIM
RGD

PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More...

RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640

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

Edentulous Mouth

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 1

RGD

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

colony stimulating factor 1; tooth less mutant

RGD

EEC syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse)

CTD
ClinVar
RGD

PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More...

RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074

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

Ehlers-Danlos syndrome periodontal type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1r

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1

OMIM
CTD
ClinVar

PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More...

NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484

G

complement C1r subcomponent like

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1

PMID:25741868 PMID:27745832

NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134

G

complement C1s

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1

NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303

Ehlers-Danlos syndrome periodontal type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1r

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2

PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More...

NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484

G

complement C1r subcomponent like

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2

PMID:25741868 PMID:27745832

NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134

G

complement C1s

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2

OMIM
CTD
ClinVar

PMID:25741868 PMID:27745832 PMID:28492532

NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303

Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium two pore domain channel subfamily K member 4

ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | ClinVar Annotator: match by term: KCNK4-related condition

PMID:25741868 PMID:28492532 PMID:30290154

NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925

Facial Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase activating polypeptide 1

mRNA:increased expression:facial VII nucleus

RGD

NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773

G

activating transcription factor 2

RGD

NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236

G

C-C motif chemokine receptor 3

RGD

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

CD59b molecule

mRNA, protein:increased expression:facial VII nucleus

RGD

NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847

G

colony stimulating factor 1

protein:increased expression:facial VII nerve, microglial cell

RGD

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

cathepsin S

RGD

NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483

G

GDNF family receptor alpha 1

mRNA:increased expression:facial VII nucleus

RGD

NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473

G

hepatocyte growth factor

treatment

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

metallothionein 3

treatment

RGD

NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158

G

NADH:ubiquinone oxidoreductase subunit A5

mRNA:increased expression:skeletal muscle

RGD

NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598

G

ret proto-oncogene

mRNA:increased expression:facial VII nucleus

RGD

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

facial paralysis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 9

associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus

RGD

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

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

fissured tongue

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Plicated tongue

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

G

tumor protein p63

ClinVar Annotator: match by term: Furrowed tongue

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

frontonasal dysplasia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALX homeobox 1

ClinVar Annotator: match by term: Frontonasal dysplasia 3
OMIM:613456

OMIM
ClinVar
MouseDO

PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532

NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220

GAPO syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 1

DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome

OMIM
CTD
ClinVar
RGD

PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More...

NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232

Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 5

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis

OMIM
CTD
ClinVar

PMID:24831815 PMID:25741868

NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976

gingival disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

formyl peptide receptor 1

ClinVar Annotator: match by term: Gingival disorder

PMID:17927965 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31534221

NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559

gingival fibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Gingival fibromatosis

PMID:25741868 PMID:28492532 PMID:11868160

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

G

zinc finger protein 862

ClinVar Annotator: match by term: Gingival fibromatosis

NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995

Gingival Fibromatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RE1-silencing transcription factor

ClinVar Annotator: match by term: Fibromatosis, gingival, 1

PMID:28492532 PMID:28686854

NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9030684 PMID:9536098 PMID:10675333 PMID:11868160 PMID:14551916 More...

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

gingival fibromatosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RE1-silencing transcription factor

ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5

PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663

NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354

Gingival Hyperplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

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

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

gingival hypertrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

PMID:12973667 PMID:14508707

NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094

gingival overgrowth

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ret proto-oncogene

ClinVar Annotator: match by term: Gingival enlargement

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More...

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

gingivitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibromodulin

protein:increased expression:gingiva

RGD

NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133

G

interleukin 6

associated with Diabetes Mellitus; protein:increased expression:extracellular space (human)

RGD

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

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421

G

vascular endothelial growth factor A

associated with Scleroderma, Systemic;protein:decreased expression:gingiva:

RGD

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

Hardikar Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 12

ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome

PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More...

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

Heimler syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA zinc finger domain containing 1

ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C

PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More...

NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107

G

peroxisomal biogenesis factor 1

ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More...

NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921

G

peroxisomal biogenesis factor 26

ClinVar Annotator: match by term: Heimler syndrome 1

NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952

G

peroxisomal biogenesis factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303

HELIX syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 10

ClinVar Annotator: match by term: HELIX syndrome

PMID:25741868 PMID:28686597 PMID:28771254 PMID:32860008

NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526

Hemifacial Spasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6

RGD

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

Hereditary Congenital Facial Paresis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeo box B1

CTD Direct Evidence: marker/mechanism

NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836

Hereditary Congenital Facial Paresis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeo box B1

ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3

PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More...

NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836

Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More...

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

hypohidrotic ectodermal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectodysplasin-A

OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia

MouseDO
ClinVar
RGD

PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More...

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

G

ectodysplasin-A receptor

OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia

MouseDO
ClinVar

PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More...

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

G

EDAR associated via death domain

DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia

PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 More...

NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447

G

EDAR-associated death domain;swh Kyo mutant

RGD

G

RAN binding protein 2

ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia

PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More...

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

G

TNF receptor associated factor 6

OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100

NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507

G

Wnt family member 10A

ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia

PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More...

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

hypomyelinating leukodystrophy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin 1

ClinVar Annotator: match by term: 4h syndrome

PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More...

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

G

checkpoint kinase 2

ClinVar Annotator: match by term: 4h syndrome

PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More...

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More...

NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172

G

RNA polymerase III subunit B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy

PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More...

NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598

G

ribosomal protein S24

ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy

PMID:22855961 PMID:25741868 PMID:27029625

NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279

G

thymidine phosphorylase

ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION

PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532

NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874

HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29758562 More...

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

isolated cleft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GTPase activating protein 29

ClinVar Annotator: match by term: Isolated cleft palate

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

G

grainyhead-like transcription factor 3

ClinVar Annotator: match by term: Isolated cleft palate

PMID:25741868 PMID:27018475 PMID:28492532

NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Isolated cleft palate

PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

G

SATB homeobox 2

OMIM:119540
ClinVar Annotator: match by term: Isolated cleft palate

MouseDO
ClinVar

PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More...

NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707

Jalili syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin and CBS domain divalent metal cation transport mediator 4

ClinVar Annotator: match by term: Jalili syndrome

PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More...

NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942

Kapur Toriello Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

ClinVar Annotator: match by term: Kapur-Toriello syndrome

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

KBG syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase family member 3

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316 PMID:31690835

NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553

G

ankyrin repeat domain containing 11

ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
OMIM:148050
CTD Direct Evidence: marker/mechanism
DNA:deletions, SNPs:CDS:multiple (human)
DNA:mutations:CDS:multiple (human)

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:9536098 PMID:15378538 PMID:15523620 PMID:15955779 PMID:16199547 More...

RGD:11068938, RGD:11086621

NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962

G

adenine phosphoribosyl transferase

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31690835

NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431

G

Btg3 associated nuclear protein

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738

G

similar to human chromosome 16 open reading frame 95

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702

G

carbonic anhydrase 5A

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906

G

CBFA2/RUNX1 partner transcriptional co-repressor 3

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31690835

NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610

G

cadherin 15

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316 PMID:31690835

NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105

G

cyclin-dependent kinase 10

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078

G

chromatin licensing and DNA replication factor 1

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31690835

NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659

G

charged multivesicular body protein 1A

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436

G

copine 7

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677

G

cytosolic thiouridylase subunit 2

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623

G

cytochrome b-245 alpha chain

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

dipeptidase 1

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257

G

FA complementation group A

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

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

G

F-box protein 31

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010

G

galactosamine (N-acetyl)-6-sulfatase

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31690835

NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246

G

interleukin 17C

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169

G

junctophilin 3

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: KBG syndrome

NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316

G

kelch domain containing 4

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868

G

microtubule-associated protein 1 light chain 3 beta

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690

G

mevalonate diphosphate decarboxylase

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971

G

PABPN1 like

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31690835

NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366

G

piezo-type mechanosensitive ion channel component 1

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501

G

ring finger protein 166

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274

G

ribosomal protein L13

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014

G

SET domain containing 5

ClinVar Annotator: match by term: KBG syndrome

NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894

G

solute carrier family 7 member 5

ClinVar Annotator: match by term: KBG syndrome

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

G

snail family transcriptional repressor 3

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486

G

spermatogenesis associated 2-like

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510

G

spermatogenesis associated 33

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894

G

T-box transcription factor 1

ClinVar Annotator: match by term: KBG syndrome

NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380

G

trafficking protein particle complex subunit 2L

ClinVar Annotator: match by term: KBG syndrome

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835

NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192

G

VPS9 domain containing 1

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634

G

zinc finger CCCH-type containing 18

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854

G

zinc finger CCHC-type containing 14

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029

G

zinc finger protein 26

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316 PMID:31690835

NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325

G

zinc finger protein (C2H2 type) 276

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049

G

zinc finger protein 469

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,282,337...50,324,010

G

zinc finger protein, multitype 1

ClinVar Annotator: match by term: KBG syndrome

NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591

Keratosis Palmoplantaris with Periodontopathia and Onychogryposis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cathepsin C

ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More...

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

G

glutamate metabotropic receptor 5

ClinVar Annotator: match by term: Haim-Munk syndrome

NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274

G

tyrosinase

ClinVar Annotator: match by term: Haim-Munk syndrome

NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207

Kindler syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FERM domain containing kindlin 1

ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome
OMIM:173650
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More...

NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555

Kniest dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More...

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

Kohlschutter-Tonz syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase 9

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066

G

ankyrin repeat and sterile alpha motif domain containing 3

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806

G

similar to human chromosome 16 open reading frame 96

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,707,529...10,750,893

G

cell death-inducing p53 target 1

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980

G

coronin 7

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001

G

CREB binding protein

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

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

G

dynein axonemal assembly factor 8

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891

G

DnaJ heat shock protein family (Hsp40) member A3

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,854,732...10,880,171
Ensembl chr10:10,854,732...10,880,161

G

GLIS family zinc finger 2

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578

G

heme oxygenase 2

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148

G

mahogunin ring finger 1

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315

G

NmrA like redox sensor 1

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192

G

nudix hydrolase 16 like 1

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370

G

presequence translocase associated motor 16

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649

G

rogdi atypical leucine zipper

OMIM:226750
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome

OMIM
MouseDO
CTD
ClinVar

PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More...

NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452

G

septin 12

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581

G

small integral membrane protein 22

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,572,146...10,574,339

G

sarcalumenin

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101

G

transcription factor AP-4

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386

G

UBA-like domain containing 1

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518

G

vasorin

ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome

NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357

lacrimoauriculodentodigital syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 10

OMIM:149730
ClinVar Annotator: match by term: Levy-Hollister syndrome

MouseDO
ClinVar

PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532

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

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome

PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More...

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

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Levy-Hollister syndrome

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

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

lacrimoauriculodentodigital syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2

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

lacrimoauriculodentodigital syndrome 3

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: Lacrimoauriculodentodigital syndrome 3

PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496

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

LADD syndrome

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: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome

PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532

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

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome

PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More...

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

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

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

Larsen syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin-dependent protein kinase II alpha

ClinVar Annotator: match by term: Larsen syndrome, dominant type

NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994

G

carbohydrate sulfotransferase 3

ClinVar Annotator: match by term: Larsen syndrome

NCBI chr20:28,114,386...28,152,046
Ensembl chr20:28,114,404...28,121,807

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Larsen syndrome

PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More...

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

G

filamin B

ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More...

NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006

lip cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

RGD

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

Lip Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 1A

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

tumor protein p53

RGD

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

Macroglossia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydropyrimidine dehydrogenase

ClinVar Annotator: match by term: Macroglossia

PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More...

NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Macroglossia

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

G

TAO kinase 1

ClinVar Annotator: match by term: Macroglossia

NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766

Macrostomia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fraser extracellular matrix complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726

Malocclusion

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin-like growth factor 1

disease_progression

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

nuclear receptor subfamily 3, group C, member 1

protein:increased expression:hippocampus (rat)

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

Malocclusion, Angle Class III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

casein kinase 2 beta

ClinVar Annotator: match by term: Hapsburg jaw

PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744

NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133

G

DEAF1 transcription factor

ClinVar Annotator: match by term: Hapsburg jaw

PMID:25741868 PMID:28492532

NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541

G

dihydropyrimidine dehydrogenase

ClinVar Annotator: match by term: Hapsburg jaw

PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More...

NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982

G

endoplasmic reticulum lectin 1

ClinVar Annotator: match by term: Hapsburg jaw

NCBI chr14:104,655,745...104,693,508
Ensembl chr14:104,655,673...104,693,480

Melkersson-Rosenthal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class I, locus CE16

protein:increased expression:peripheral blood (human)

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

Microtia, Hearing Impairment, and Cleft Palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox A1

ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate

NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504

G

homeobox A2

ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868

NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044

Moebius syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif, 8

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404

G

anti-Mullerian hormone

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

PMID:25741868 PMID:28492532

NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282

G

BCDIN3 domain containing RNA methyltransferase

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 7:130,605,540...130,610,134
Ensembl chr 7:130,605,541...130,610,115

G

cadherin 11

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272

G

chimerin 1

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490

G

EBF transcription factor 3

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359

G

golgi associated RAB2 interactor family member 4

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr13:102,742,988...102,745,168
Ensembl chr13:102,742,988...102,745,168

G

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327

G

heat shock protein family B (small) member 7

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266

G

integrator complex subunit 6 like

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr X:134,258,117...134,325,706
Ensembl chr X:134,258,125...134,309,617

G

kelch repeat and BTB domain containing 7

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr15:54,806,878...54,811,457
Ensembl chr15:54,806,873...54,811,687

G

mitochondrial ribosomal protein L28

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr10:15,148,698...15,151,581
Ensembl chr10:15,148,681...15,151,581

G

phospholipase C, beta 2

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302

G

plexin D1

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244

G

patched 2

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

PMID:28492532 PMID:28915250

NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405

G

SIM bHLH transcription factor 1

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532

NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212

G

zinc finger protein 787

ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum

NCBI chr 1:67,745,702...67,771,132
Ensembl chr 1:67,758,757...67,771,132

Mouth Abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion, haplotype: : (human)

RGD

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

G

glutathione S-transferase theta 1

no_association

DNA:deletion:: (human)

RGD

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

G

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600

Mouth Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 1C (class I), gamma polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 2:226,797,303...226,808,892
Ensembl chr 2:226,797,303...226,808,892

G

alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182

G

A-kinase anchoring protein 11

mRNA:increased expression:oral mucosa:

RGD

NCBI chr15:53,911,635...53,956,138
Ensembl chr15:53,911,657...53,941,605

G

annexin A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

annexin A2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

annexin A5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369

G

ATPase copper transporting beta

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

G

carbonyl reductase 3

mRNA:decreased expression:oral squamous cell carcinoma (human)

RGD

NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875

G

C-C motif chemokine ligand 2

no_association

DNA:polymorphism::2518G>A(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25199511 PMID:21570337

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

G

C-C motif chemokine receptor 2

susceptibility

DNA:polymorphism:cds:pV64I(human)

RGD

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

G

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

claudin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724

G

CLPTM1-like

CTD Direct Evidence: marker/mechanism

NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530

G

crystallin, alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157

G

cytochrome P450, family 1, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

G

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism

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

G

enolase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336

G

erb-b2 receptor tyrosine kinase 2

protein:increased expression:oral epithelium

RGD

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

protein:increased expression:oral epithelium

RGD

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:polymorphisms:cds:p.D312N,K751Q(human)

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

ETS proto-oncogene 1, transcription factor

disease_progression

associated with Diabetes Mellitus, Experimental;protein:increased expression:

RGD

NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010

G

fibrinogen alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528

G

far upstream element binding protein 1

mRNA:increased expression:oral cavity (human)

RGD

NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602

G

glyceraldehyde-3-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

GPN-loop GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:24,947,350...24,965,025
Ensembl chr 6:24,947,325...24,965,031

G

3-hydroxy-3-methylglutaryl-CoA synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130

G

homeo box A5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:81,302,341...81,306,234
Ensembl chr 4:81,302,353...81,306,234

G

homeo box D10

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725

G

homeobox D11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783

G

HRas proto-oncogene, GTPase

associated with Diabetes Mellitus;protein:increased expression:oral region
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24224046 PMID:19283661

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

G

heat shock protein family A (Hsp70) member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

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

G

interleukin 18

CTD Direct Evidence: marker/mechanism

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

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

laminin subunit gamma 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697

G

galectin 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:84,148,612...84,152,016
Ensembl chr 1:84,150,252...84,152,015

G

O-6-methylguanine-DNA methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756

G

mitochondrial ribosomal protein L13

CTD Direct Evidence: marker/mechanism

NCBI chr 7:86,951,541...86,973,147
Ensembl chr 7:86,951,541...86,973,577

G

metallothionein 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049

G

nicotinamide phosphoribosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms,haplotype:exon:

RGD

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

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880

G

NRAS proto-oncogene, GTPase

disease_progression

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

phosphoglycerate mutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452

G

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant tumor of floor of mouth

PMID:17376864 PMID:21824802 PMID:22729224 PMID:24033266 PMID:24224046 More...

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

G

plasminogen activator, urokinase

DNA:snp:3' utr:g.4065C>T (human)

RGD

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

peptidylprolyl isomerase A

CTD Direct Evidence: marker/mechanism

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

G

phosphoribosyl transferase domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:83,549,608...83,654,517
Ensembl chr17:83,548,803...83,655,179

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Malignant tumor of floor of mouth

PMID:1945792 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 More...

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12969226 PMID:20051374

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine kinase 2

CTD Direct Evidence: therapeutic

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

G

receptor for activated C kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,169,415...33,174,896
Ensembl chr10:33,169,169...33,174,975

G

serpin family B member 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682

G

stratifin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314

G

sirtuin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808

G

superoxide dismutase 2

susceptibility

DNA:polymorphism: :rs4342445(human)
CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:12543247 PMID:15274141 PMID:21940907

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

TIAM Rac1 associated GEF 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901

G

tumor protein p53

associated with Diabetes Mellitus, Experimental; protein:increased expression:oral epithelium
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19435901 PMID:24224046 PMID:17595763 PMID:16778087

RGD:2290572, RGD:8547873

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

G

triosephosphate isomerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541

G

TSC complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674

G

TSC complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903

G

voltage-dependent anion channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553

G

X-ray repair cross complementing 1

susceptibility

DNA:haplotye::

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

mucositis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

PMID:7543699 PMID:17047649

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

elastase, neutrophil expressed

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

glutathione S-transferase theta 1

treatment

associated with diffuse large B-cell lymphoma; DNA:deletion:cds:

RGD

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

G

interleukin 10

CTD Direct Evidence: marker/mechanism

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

G

interleukin 1 beta

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20844880 PMID:22984629 PMID:30987265

RGD:7204497, RGD:14975283

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

G

interleukin 1 receptor antagonist

CTD Direct Evidence: therapeutic

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

G

marker of proliferation Ki-67

RGD

NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

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

G

mucin 2, oligomeric mucus/gel-forming

protein:decreased expression:intestine

RGD

NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756

G

mucin 4, cell surface associated

protein:decreased expression:intestine

RGD

NCBI chr11:68,008,245...68,053,242

G

nitric oxide synthase 2

protein:increased expression:jejunum (rat)

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

proliferating cell nuclear antigen

protein:decreased expression:intestine:

RGD

NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995

G

trefoil factor 3

CTD Direct Evidence: therapeutic

NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054

G

transforming growth factor alpha

CTD Direct Evidence: therapeutic

NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894

G

unc-51 like autophagy activating kinase 1

treatment

RGD

NCBI chr12:45,851,710...45,877,966
Ensembl chr12:45,851,710...45,877,966

multiple benign circumferential skin creases on limbs

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin, beta 5 class I

ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome

PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More...

NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940

Nance-Horan syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor G2

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609

G

BCLAF1 and THRAP3 family member 3

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816

G

BEN domain containing 2

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:33,401,122...33,465,427

G

cyclin-dependent kinase-like 5

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582

G

eukaryotic translation initiation factor 1A, X-linked

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335

G

mitogen-activated protein kinase kinase kinase 15

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807

G

MAP7 domain containing 2

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091

G

NHS actin remodeling regulator

DNA:snp, insertion, nonsense mutations:multiple (human)
ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome
OMIM:302350
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:458526 PMID:2246772 PMID:9536098 PMID:14564667 PMID:15466011 More...

NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992

G

pyruvate dehydrogenase E1 subunit alpha 1

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311

G

phosphorylase kinase regulatory subunit alpha 2

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466

G

protein phosphatase with EF-hand domain 1

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701

G

retinoic acid induced 2

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264

G

ribosomal protein S6 kinase A3

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207

G

retinoschisin 1

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115

G

Scm polycomb group protein like 1

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366

G

Scm polycomb group protein like 2

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742

G

SH3 domain-containing kinase-binding protein 1

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684

NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747

Native American myopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V0 subunit a4

ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110

G

insulin receptor

ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy

PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More...

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

SH3 and cysteine rich domain 3

ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More...

NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589

NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBC1 domain family, member 2B

ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth

PMID:25741868 PMID:32623794 PMID:38177409

NCBI chr 8:90,746,220...90,814,867
Ensembl chr 8:90,746,233...90,814,832

Noonan Like Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS | ClinVar Annotator: match by term: Noonan-like syndrome

PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More...

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

cell division cycle 42

ClinVar Annotator: match by term: Noonan-like syndrome

PMID:25741868 PMID:29394990

NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

G

protein tyrosine phosphatase, non-receptor type 11

DNA:missense mutations:cds:p.D106A, p.F285L (human)

RGD

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS

PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More...

NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

Noonan syndrome-like disorder with loose anagen hair

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SHOC2 leucine-rich repeat scaffold protein

ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair

PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More...

NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337

Noonan syndrome-like disorder with loose anagen hair 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SHOC2 leucine-rich repeat scaffold protein

ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:multiple (human)
Noonan syndrome-like disorder with loose anagen hair 1;
DNA:mutation:cds:c.4A>G (p.S2G)(human)

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More...

RGD:155804265, RGD:11071098, RGD:11071178

NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337

Noonan syndrome-like disorder with loose anagen hair 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 1 catalytic subunit beta

ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition

PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More...

NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824

Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More...

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More...

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

oblique facial clefting 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sperm antigen with calponin homology and coiled-coil domains 1-like

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculomaxillofacial dysostosis

OMIM
CTD
ClinVar

PMID:21703590 PMID:25741868 PMID:28492532

NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665

oculodentodigital dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein, alpha 1

DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
OMIM:164200 | OMIM:257850
CTD Direct Evidence: marker/mechanism
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More...

RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372

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

Oculodentodigital Dysplasia, Autosomal Recessive

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: Oculodentodigital dysplasia, autosomal recessive
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 More...

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

G

TBC1 domain family, member 32

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

NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415

Oculoskeletodental Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha

ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES

PMID:25741868 PMID:28492532 PMID:31034465

NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472

Odontochondrodysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid hormone receptor interactor 11

ClinVar Annotator: match by term: Odontochondrodysplasia 1

PMID:20089971 PMID:23956106 PMID:25741868 PMID:28492532 PMID:29872333 More...

NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781

Odontochondrodysplasia 2 with Hearing Loss and Diabetes

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MIA SH3 domain ER export factor 3

ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes

NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972

Odontohypophosphatasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkaline phosphatase, biomineralization associated

ClinVar Annotator: match by term: Low alkaline phosphatase | ClinVar Annotator: match by term: Odontohypophosphatasia

PMID:1409720 PMID:8675582 PMID:9452105 PMID:9536098 PMID:10094560 More...

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

Odontoonychodermal Dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 10A

ClinVar Annotator: match by term: Odontoonychodermal dysplasia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More...

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

Oligodontia-Colorectal Cancer Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axin 2

ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More...

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

G

G protein subunit alpha 13

ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome

NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774

G

regulator of G-protein signaling 9

ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome

NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892

Opitz GBBB syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

midline 1

OMIM:300000
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I

OMIM
MouseDO
CTD
ClinVar

PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More...

NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353

oral candidiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCAAT/enhancer binding protein beta

susceptibility

RGD

NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473

G

interleukin 23 subunit alpha

severity

RGD

NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923

G

lipocalin 2

no_association

mRNA:increased expression:tongues:

RGD

PMID:24343647 PMID:24343647

RGD:126725083, RGD:126725083

NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095

G

lactotransferrin

CTD Direct Evidence: therapeutic

NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795

G

zinc finger CCCH type containing 12A

RGD

NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351

oral cavity cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

protein:decreased activity:saliva:

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

cholinergic receptor nicotinic beta 4 subunit

susceptibility

DNA:SNP: :rs578776(human)

RGD

NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027

G

cytochrome P450, family 1, subfamily a, polypeptide 1

RGD

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

G

cytochrome P450, family 2, subfamily e, polypeptide 1

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

glutathione S-transferase mu 1

RGD

PMID:23057317 PMID:17418613 PMID:17461521

RGD:14700938, RGD:14700968, RGD:14700965

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

G

glutathione S-transferase theta 1

RGD

PMID:22594240 PMID:14735473

RGD:14700997, RGD:14701001

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

G

superoxide dismutase 3

RGD

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

oral cavity carcinoma in situ

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NUF2 component of NDC80 kinetochore complex

disease_progression

RGD

NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766

Oral Lichen Planus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

protein:increased expression:mouth mucosa:

RGD

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

G

C-C motif chemokine ligand 20

RGD

NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629

G

C-C motif chemokine receptor 5

protein:increased expression:blood, T cell

RGD

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

G

C-C motif chemokine receptor 6

RGD

NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603

G

cyclin-dependent kinase inhibitor 1A

protein:increased expression:mucosa:

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

DNA methyltransferase 1

protein:increased expression:mouth mucosa:

RGD

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

DNA methyltransferase 3 beta

susceptibility

protein:increased expression:mouth mucosa:
DNA:polymorphism: :C46359T(human)

RGD

PMID:22236544 PMID:22236544

RGD:9589075, RGD:9589075

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

interleukin 18

no_association

DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human)

RGD

PMID:17854431 PMID:17854431

RGD:8655868, RGD:8655868

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

G

interleukin 1 alpha

treatment

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 2

RGD

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

G

microRNA 155

miRNA:increased expression:blood

RGD

PMID:29813046 PMID:29276184

RGD:21081545, RGD:24922205

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

G

microRNA 19a

RGD

NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993

G

matrix metallopeptidase 2

RGD

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

G

toll-like receptor 2

protein:increased expression:monocyte,buccal mucosa:

RGD

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

G

toll-like receptor 4

protein:increased expression:oral epithelium:

RGD

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

G

toll-like receptor 9

protein:increased expression:oral epithelium:

RGD

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

G

tumor protein p53

DNA:mutations: :
protein:increased expression:epithelium

RGD

PMID:12120703 PMID:16393253

RGD:8547838, RGD:8547841

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

oral mucosa leukoplakia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

severity

protein:increased expression:mucosa of oral region (human)

RGD

PMID:29928356 PMID:18288488

RGD:150340604, RGD:150340709

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

G

axin 2

disease_progression

RGD

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

G

BCL2, apoptosis regulator

protein:increased expression:tongue:

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

cyclin-dependent kinase inhibitor 1A

susceptibility

DNA:polymorphism:exon:149A>G(human)

RGD

PMID:10873097 PMID:10873097

RGD:8662371, RGD:8662371

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:polymorphism:cds:p.K751Q(human)

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

glutathione S-transferase mu 1

RGD

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

G

glutathione S-transferase theta 1

RGD

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

G

H2A.X variant histone

disease_progression

protein:increased expression:mucosa of oral region (human)

RGD

NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms,haplotype:exon:

RGD

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

snail family transcriptional repressor 1

disease_progression

RGD

NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969

G

tumor protein p53

protein:increased expression:oral mucosa:
DNA:mutations:cds:
protein:increased expression:tongue:

RGD

PMID:23776093 PMID:12167434 PMID:12167434

RGD:8547855, RGD:8547871, RGD:8547871

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

G

X-ray repair cross complementing 1

susceptibility

DNA:polymorphism,haplotye:cds:p.R399Q(human)

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

oral squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

severity

DNA:mutations

RGD

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

adenosine deaminase

disease_progression

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

disease_progression

RGD

NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295

G

angiopoietin 1

protein:decreased expression:oral mucosa (human)

NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067

G

angiopoietin 2

protein:increased expression:oral mucosa (human)

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

AT-rich interaction domain 2

disease_progression

RGD

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

G

actin related protein 2/3 complex, subunit 1B

severity

protein:increased expression:oral mucosa (human)

RGD

NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747

G

ATM serine/threonine kinase

disease_progression

protein:increased expression:mucosa of oral region (human)

RGD

PMID:29928356 PMID:18288488

RGD:150340604, RGD:150340709

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

G

ATPase H+ transporting V1 subunit C1

RGD

NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278

G

axin 1

disease_progression

protein:decreased expression:oral epithelium (human)
mRNA:increased expression:oral epithelium (human)

RGD

PMID:17143481 PMID:21393552

RGD:150530474, RGD:150530486

NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615

G

axin 2

susceptibility
ameliorates
disease_progression

DNA:SNP:intron: C>T (rs3923087)(human)

RGD

PMID:21393552 PMID:33046030 PMID:33046030

RGD:150530486, RGD:151356656, RGD:151356656

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

G

alpha-2-glycoprotein 1, zinc-binding

protein:increased expression:saliva
protein:decreased expression:saliva

RGD

PMID:29199150 PMID:33564003

RGD:153350131, RGD:153350144

NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091

G

BarH-like homeobox 2

protein:decreased expression:mouth mucosa

RGD

NCBI chr14:3,340,465...3,345,362
Ensembl chr14:3,340,465...3,345,353

G

Bcl2-like 1

mRNA, protein:increased expression:mouth (human)

RGD

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479

G

basic helix-loop-helix family, member e41

treatment

Human cells in mouse model

RGD

NCBI chr 4:178,834,264...178,838,618
Ensembl chr 4:178,834,271...178,838,468

G

baculoviral IAP repeat-containing 2

protein:increased expression:oral cavity (human)

RGD

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

baculoviral IAP repeat-containing 3

disease_progression
ameliorates

protein:increased expression:oral cavity (human)
mRNA:increased expression:oral cavity (human)
protein:decreased expression:oral cavity (human)

RGD

PMID:23852810 PMID:20967871 PMID:29286141 PMID:21952624

RGD:152998980, RGD:152999012, RGD:152999009, RGD:152998987

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

protein:increased expression:oral cavity (human)

RGD

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

BMP/retinoic acid inducible neural specific 2

DNA:amplication:oral epithelium

RGD

NCBI chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810

G

bone marrow stromal cell antigen 2

disease_progression

RGD

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

G

Bruton tyrosine kinase

treatment

mRNA:increased expression:oral epithelium (human)

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

calreticulin

exacerbates

protein:increased expression:oral epithelium (human)
protein:increased expression:mouth (human)

PMID:23375593 PMID:28599487

RGD:150521688, RGD:150520158

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

calcium/calmodulin-dependent protein kinase II inhibitor 1

RGD

NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600

G

carbonic anhydrase 12

disease_progression

NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440

G

chromobox 2

disease_progression

RGD

NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383

G

C-C motif chemokine ligand 2

susceptibility
disease_progression

DNA:polymorphism,haplotype::2518A>G(human)
associated with social isolation;protein:increased expression:tongue (rat)

RGD

PMID:21883707 PMID:33411841

RGD:8661694, RGD:152998999

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

G

C-C motif chemokine receptor 2

susceptibility

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

RGD

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

G

cell division cycle 73

mRNA:altered expression: tongue, oral cavity (human)

RGD

NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656

G

cadherin 1

disease_progression

RGD

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

G

cyclin-dependent kinase inhibitor 1A

susceptibility
no_association
disease_progression

DNA:polymorphism:exon:149A>G(human)
DNA:polymorphism: :98C>A(human)

RGD

PMID:10873097 PMID:18251939 PMID:15817070 PMID:10873097

RGD:8662371, RGD:8662395, RGD:8662374, RGD:8662371

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

ceramide synthase 1

exacerbates

RGD

NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:mouth mucosa:

RGD

NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070

G

CLPTM1-like

susceptibility

DNA:SNP: :rs402710(human)

RGD

NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530

G

catenin delta 1

disease_progression

RGD

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

G

cytochrome P450, family 1, subfamily a, polypeptide 1

RGD

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

G

cytochrome P450, family 24, subfamily a, polypeptide 1

susceptibility

DNA:SNP:exon: (rs2296241) (human)

RGD

NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383

G

cytochrome P450, family 2, subfamily e, polypeptide 1

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

death-domain associated protein

ameliorates

human cell line in a mouse model

RGD

NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843

G

discoidin domain receptor tyrosine kinase 1

mRNA, protein:increased expression:mouth (human)

RGD

NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468

G

discoidin domain receptor tyrosine kinase 2

severity

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

DNA methyltransferase 3 beta

disease_progression

RGD

PMID:24625449 PMID:24625449

RGD:9589120, RGD:9589120

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

G

dedicator of cytokinesis 6

disease_progression

RGD

NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552

G

ephrin B2

protein:increased expression:oral mucosa (human)

NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391

G

epidermal growth factor receptor

RGD

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

erb-b2 receptor tyrosine kinase 2

RGD

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 4

disease_progression

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

susceptibility

associated with oral mucosa leukoplakia
DNA:SNPs, haplotypes: :multiple

RGD

PMID:24122997 PMID:21697275 PMID:26807327

RGD:126779588, RGD:126781699, RGD:126779606

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

FAT atypical cadherin 1

onset

protein:increased expression:tongue (mouse)
DNA:mutations:multiple

RGD

PMID:30624777 PMID:28435450

RGD:151347668, RGD:151347687

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

G

fibroblast growth factor receptor 3

associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human)

RGD

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

G

fibroblast growth factor receptor 4

severity

DNA:SNP:exon 9: p.G388R (human)

RGD

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

G

Fms related receptor tyrosine kinase 3

mRNA:decreased expression:oral epithelium (human)

RGD

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

FOS like 2, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

RGD

NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034

G

glyceraldehyde-3-phosphate dehydrogenase

RGD

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

glutathione peroxidase 1

exacerbates

protein:increased expression:oral cavity (human)

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 4

disease_progression

protein:increased expression:oral cavity (human)

NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982

G

glycogen synthase kinase 3 beta

susceptibility

DNA:SNP:intron: (rs9879992) (human)

RGD

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

glutathione S-transferase mu 1

severity

DNA:deletion: : (human)

RGD

PMID:22213390 PMID:14662415

RGD:12792245, RGD:14700962

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

G

glutathione S-transferase pi 1

mRNA,protein:decreased expression:mucosa:

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

H2A.X variant histone

disease_progression

protein:increased expression:mucosa of oral region (human)

RGD

NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239

G

hes family bHLH transcription factor 1

protein:increased expression:tongue (mouse)

RGD

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

haptoglobin

protein:increased expression:saliva

RGD

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

interleukin 10

susceptibility

DNA:SNP:promoter:-592A>C (human)

RGD

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

G

interleukin 13 receptor subunit alpha 2

RGD

NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381

G

interleukin 1 beta

disease_progression

associated with social isolation;protein:increased expression:tongue (rat)

RGD

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

G

interleukin 2

RGD

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

G

interleukin 6

disease_progression

RGD

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

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA, protein:increased expression:mouth (human)

RGD

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

JunB proto-oncogene, AP-1 transcription factor subunit

associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human)

RGD

NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

G

lysine methyltransferase 2D

severity

RGD

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

G

microcephalin 1

mRNA:protein:decreased expression:oral cavity, tissue (human)

RGD

NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression, altered expression:mouth mucosa:

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

microRNA 155

disease_progression

RGD

PMID:30194167 PMID:28413645 PMID:29909906

RGD:21079420, RGD:24922225, RGD:21079468

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

G

microRNA 187

RNA:increased expression:plasma

RGD

NCBI chr18:15,731,194...15,731,297
Ensembl chr18:15,731,194...15,731,297

G

microRNA 20a

RGD

NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168

G

microRNA 221

exacerbates

RGD

NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573

G

microRNA 222

disease_progression
exacerbates

RGD

PMID:31841247 PMID:21226887

RGD:151708741, RGD:151708999

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

microRNA 31

treatment

RGD

NCBI chr 5:103,599,038...103,599,143

G

methylenetetrahydrofolate reductase

susceptibility

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

RGD

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

G

NLR family, apoptosis inhibitory protein 6

protein:increased expression:oral cavity (human)

RGD

NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542

G

notch receptor 1

protein:increased expression:tongue (mouse)

RGD

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

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:oral mucosa (human)

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

plasminogen activator, urokinase

severity

protein:increased expression:oral mucosa (rat)

RGD

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

phospholipase C, gamma 1

disease_progression
ameliorates

protein:decreased expression:oral cavity (human)

RGD

PMID:26464646 PMID:25085076

RGD:11526681, RGD:151356936

NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330

G

peroxiredoxin 2

protein:increased expression:saliva

RGD

NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194

G

phosphatase and tensin homolog

disease_progression

protein:increased expression:oral epithelium (human)

RGD

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

G

prostaglandin I2 synthase

mRNA,protein:decreased expression:mouth mucosa (human)

RGD

NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451

G

protein tyrosine phosphatase, non-receptor type 13

treatment

RGD

NCBI chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563

G

RAD21 cohesin complex component

exacerbates

mRNA:decreased expression:oral cavity (human)

RGD

NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:mouth (human)

RGD

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

serpin family E member 1

severity
disease_progression

protein:increased expression:oral mucosa (rat)

RGD

PMID:15878520 PMID:24999729

RGD:8547730, RGD:13208508

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

G

S-phase kinase associated protein 2

protein:increased expression:mucosa of oral region (human)

RGD

NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338

G

solute carrier family 7 member 5

severity

RGD

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

G

telomerase reverse transcriptase

susceptibility

DNA:SNPs: :rs2736100,rs2736098(human)

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tet methylcytosine dioxygenase 2

protein:decreased expression:oral epithelium (human)

RGD

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

G

tumor necrosis factor

disease_progression

associated with social isolation;protein:increased expression:tongue (rat)

RGD

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

G

tumor protein p53

DNA:missense mutations: :multiple
protein:increased expression:mouth (human)

RGD

PMID:27283772 PMID:34111459

RGD:14995497, RGD:153344573

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

G

transthyretin

protein:increased expression:saliva (human)

RGD

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

G

vascular endothelial growth factor A

protein:increased expression:oral mucosa (human)

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

G

Wnt family member 11

susceptibility

DNA:SNP:exon: A>G (rs1533767) (human)

RGD

NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294

oral submucous fibrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

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

G

collagen type I alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

cystatin C

CTD Direct Evidence: marker/mechanism

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cytotoxic T-lymphocyte-associated protein 4

CTD Direct Evidence: marker/mechanism

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

G

cytochrome P450, family 3, subfamily a, polypeptide 9

mRNA:decreased expression:buccal mucosa

RGD

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

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

G

glutathione S-transferase mu 1

RGD

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

G

glutathione S-transferase theta 1

RGD

PMID:18573513 PMID:22752755

RGD:14700981, RGD:14701000

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

G

interferon gamma

CTD Direct Evidence: marker/mechanism

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

G

interleukin 6

CTD Direct Evidence: marker/mechanism

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

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477

G

MHC I like leukocyte 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:78,372,798...78,398,932
Ensembl chr 1:78,372,802...78,398,930

G

matrix metallopeptidase 1

CTD Direct Evidence: marker/mechanism

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

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

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

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16311067 PMID:10680515

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

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p53

protein:increased expression:oral mucosa:

RGD

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

G

zinc finger E-box binding homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214

Oral Ulcer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin 1

CTD Direct Evidence: therapeutic

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

G

heat shock protein family D (Hsp60) member 1

associated with Behcet Syndrome;protein:increased expression:muccal mucosa:

RGD

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

G

leptin

CTD Direct Evidence: therapeutic

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

signal transducer and activator of transcription 4

associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)

RGD

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

orofacial cleft

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase short-chain family member 2

DNA:missense mutation: :p.V496A (rs59088485) (human)

RGD

PMID:28543373 PMID:27229527

RGD:13831307, RGD:13831309

NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675

G

axin 2

DNA:SNP:cds:rs2240308(p.P50S)(human)

RGD

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

G

bone morphogenetic protein 4

ClinVar Annotator: match by term: Orofacial cleft

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

G

cadherin 1

ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft

PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 More...

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

G

centrosomal protein 70

ClinVar Annotator: match by term: Median cleft lip and palate

PMID:19254375 PMID:25741868 PMID:31680349

NCBI chr 8:99,810,270...99,863,279
Ensembl chr 8:99,810,367...99,862,855

G

filamin A

ClinVar Annotator: match by term: Orofacial clefting

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

follistatin

ClinVar Annotator: match by term: Orofacial cleft

NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571

G

growth differentiation factor 11

ClinVar Annotator: match by term: Orofacial cleft

NCBI chr 7:1,311,732...1,325,211
Ensembl chr 7:1,311,732...1,320,725

G

glutathione S-transferase mu 1

no_association

DNA:deletion: : (human)

RGD

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

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion:cds: (human)

RGD

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

G

hexokinase domain containing 1

ClinVar Annotator: match by term: Nonsyndromic cleft lip palate

PMID:25741868 PMID:27229527

NCBI chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867

G

lipoxygenase homology PLAT domains 1

susceptibility

DNA:SNP:exon:rs1450425 (human)

RGD

NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983

G

LDL receptor related protein 6

ClinVar Annotator: match by term: Orofacial cleft

PMID:22813217 PMID:23806086 PMID:26963285

NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497

G

Meis homeobox 2

DNA:mutations, haplotype insufficiency: :

RGD

NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696

G

msh homeobox 1

OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892

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

G

myosin, heavy chain 9

DNA:SNPs
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)

RGD

PMID:18716610 PMID:17337617 PMID:19320731 PMID:19891592

RGD:12798509, RGD:12798514, RGD:12798512, RGD:12798511

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

phytanoyl-CoA 2-hydroxylase

DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human)
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate

PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More...

NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

ClinVar Annotator: match by term: Facial cleft

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

G

T-box transcription factor 22

ClinVar Annotator: match by term: Orofacial cleft

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

G

transcription factor AP-2 alpha

OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892

NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507

G

von Willebrand factor A domain containing 8

ClinVar Annotator: match by term: Nonsyndromic cleft lip palate

PMID:25741868 PMID:27229527

NCBI chr15:54,252,703...54,576,871
Ensembl chr15:54,252,584...54,576,870

orofacial cleft 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAMTS-like 1

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr 5:99,964,406...100,919,786
Ensembl chr 5:99,964,486...100,918,384

G

cadherin 11

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Orofacial cleft 1

PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

G

fibroblast growth factor 10

ClinVar Annotator: match by term: Orofacial cleft 1

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

G

MAF bZIP transcription factor B

ClinVar Annotator: match by term: Orofacial cleft 1

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

G

nectin cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360

G

NIPBL, cohesin loading factor

ClinVar Annotator: match by term: Orofacial cleft 1

PMID:25741868 PMID:28492532

NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899

G

netrin 1

ClinVar Annotator: match by term: Orofacial cleft 1

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

G

PVR cell adhesion molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715

G

RUNX family transcription factor 2

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

G

receptor-like tyrosine kinase

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698

G

TATA-box binding protein associated factor, RNA polymerase I subunit B

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr 6:41,116,980...41,194,593
Ensembl chr 6:41,117,420...41,194,593

G

titin

ClinVar Annotator: match by term: Orofacial cleft 1

PMID:18414213 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 More...

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

orofacial cleft 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Orofacial cleft 10

PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676

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

G

small ubiquitin-like modifier 1

ClinVar Annotator: match by term: Orofacial cleft 10
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

orofacial cleft 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: Orofacial cleft 11

OMIM
CTD
ClinVar

PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More...

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

orofacial cleft 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

distal-less homeobox 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Orofacial cleft 15

OMIM
CTD
ClinVar

PMID:25741868 PMID:25954033 PMID:28492532

NCBI chr10:80,085,037...80,090,434
Ensembl chr10:80,085,465...80,090,456

orofacial cleft 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

msh homeobox 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Orofacial cleft 5

OMIM
CTD
ClinVar

PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 More...

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

orofacial cleft 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:15317890 More...

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

orofacial cleft 7

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: Orofacial cleft 7

PMID:10932188 PMID:11559849

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

orofacial cleft 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: Orofacial cleft 8

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

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

osteogenesis imperfecta type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase family member 2

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth
OMIM:166200
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I

OMIM
ClinVar
MouseDO

PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 More...

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

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth

PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 More...

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

distal-less homeobox 3

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:26478226 More...

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

G

essential meiotic structure-specific endonuclease 1

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

NCBI chr10:79,586,718...79,595,515
Ensembl chr10:79,586,729...79,595,435

G

integrin subunit alpha 3

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More...

NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118

G

leucine rich repeat containing 59

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533

G

mitochondrial ribosomal protein L27

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

NCBI chr10:79,595,459...79,601,242
Ensembl chr10:79,595,479...79,601,239

G

pyruvate dehydrogenase kinase 2

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More...

NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085

G

protein phosphatase 1, regulatory subunit 9B

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More...

NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083

G

sterile alpha motif domain containing 14

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More...

NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341

G

sarcoglycan, alpha

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 More...

NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813

G

transmembrane protein 92

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

NCBI chr10:79,749,242...79,760,807

G

xylosyltransferase 2

ClinVar Annotator: match by term: Osteogenesis imperfecta type I

NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391

Papillon-Lefevre disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cathepsin C

DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More...

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

Peri-Implantitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BMP/retinoic acid inducible neural specific 3

susceptibility

DNA:SNP: :rs1935881(human)

RGD

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

G

C-C motif chemokine ligand 2

RGD

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

G

C-C motif chemokine receptor 2

RGD

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

Periapical Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 2

RGD

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

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

platelet derived growth factor subunit B

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

TNF receptor superfamily member 11B

RGD

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

periapical granuloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 7

protein:increased expression:periodontal ligament

RGD

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

G

C-C motif chemokine receptor 2

mRNA:increased expression:gingiva:

RGD

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

G

C-C motif chemokine receptor 3

RGD

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

periapical periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

RGD

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

G

C-C motif chemokine ligand 7

disease_progression

protein:increased expression:periodontal ligament

RGD

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

G

C-C motif chemokine receptor 2

RGD

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

G

class II, major histocompatibility complex, transactivator

RGD

NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

C-X-C motif chemokine receptor 2

RGD

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

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

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

G

interleukin 17A

protein:increased expression:Periapical Tissue

RGD

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

G

TNF receptor superfamily member 11B

treatment

Lactobacillus acidophilus

RGD

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

Periodontal Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

vascular endothelial growth factor A

protein:decreased expression:maxilla:

RGD

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

Periodontal Cyst

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

mRNA:increased expression:gingiva:

RGD

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

G

C-C motif chemokine receptor 2

mRNA:increased expression:gingiva:

RGD

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

periodontal disease

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 expressin:gingiva

RGD

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

G

CD1d1 molecule

ameliorates

RGD

NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089

G

CD40 ligand

mRNA:increased expression:lymph node, B cell, T cell

RGD

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

G

Cd80 molecule

RGD

NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030

G

cathepsin C

CTD Direct Evidence: marker/mechanism

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

G

dentin sialophosphoprotein

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

G

interleukin 15

mRNA:decreased expression:B cell

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

interleukin 16

mRNA:increased expression:T cell

RGD

NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130

G

interleukin 17A

protein:increased expression:gingiva (rat)

RGD

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

G

interleukin 19

mRNA:increased expression:B cell

RGD

NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473

G

interleukin 21

mRNA:increased expression:lymph node, B cell

RGD

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 24

mRNA:increased expression:lymph node, T cell

RGD

NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487

G

interleukin 6

severity

associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)

RGD

PMID:17286759 PMID:19017034

RGD:1601585, RGD:2307284

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

G

interleukin 7

RGD

NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

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

G

renin

treatment

Associated with Diabetes Mellitus, experimental

RGD

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 1

RGD

PMID:18275933 PMID:21958237

RGD:5129135, RGD:7241545

NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259

G

advanced glycosylation end product-specific receptor

protein:increased expression:periodontium (rat)

RGD

PMID:22795565 PMID:22924807

RGD:6784499, RGD:7245487

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

amyloid beta precursor protein

mRNA:increased expression:gingiva

RGD

NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561

G

C-C motif chemokine ligand 2

protein:increased expression:gingiva

RGD

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

G

C-C motif chemokine receptor 1

RGD

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

G

CD14 molecule

protein:increased expression:monocyte, neutrophil:

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

CD274 molecule

protein:increased expression:periodontium

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

CD40 ligand

protein:increased expression:serum (human)

RGD

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

G

claudin 1

mRNA,protein:decreased expression:epithelium:

RGD

NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724

G

C-reactive protein

CTD Direct Evidence: marker/mechanism

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

G

C-X-C motif chemokine ligand 12

RGD

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

G

C-X-C motif chemokine ligand 2

protein:increased expression:gingival epithelium

RGD

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

cytochrome P450, family 1, subfamily a, polypeptide 1

RGD

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

G

elastase, neutrophil expressed

susceptibility

associated with Severe Congenital Neutropenia;DNA:mutations: :

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

fibromodulin

protein:increased expression:gingiva

RGD

NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133

G

formyl peptide receptor 1

ClinVar Annotator: match by term: Periodontitis

NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559

G

GC, vitamin D binding protein

ClinVar Annotator: match by term: Periodontitis

NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567

G

gamma-glutamyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442

G

gonadotropin releasing hormone 1

DNA:snp:exon:c.59C>G (human)

RGD

NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581

G

glutathione S-transferase mu 1

RGD

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

G

high mobility group box 1

protein:increased expression:gingiva

RGD

NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

interferon gamma receptor 1

RGD

NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785

G

interleukin 10

treatment

associated with type 2 diabetes mellitus

RGD

PMID:23843954 PMID:30405072 PMID:27795360

RGD:7364998, RGD:14975259, RGD:14975132

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

G

interleukin 1 alpha

mRNA:increased expression:gingiva

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

treatment

mRNA:increased expression:gingiva
associated with Severe Congenital Neutropenia;protein:increased expression:gingival crevicular fluid
mRNA:increased expression:gingiva, stroma (rat)

RGD

PMID:22795294 PMID:21796505 PMID:27795360 PMID:24586097 PMID:23167849

RGD:6906881, RGD:10450515, RGD:14975132, RGD:10450598, RGD:7175547

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

G

interleukin 1 receptor antagonist

susceptibility

mRNA:increased expression:gingiva
associated with Kidney Failure, Chronic;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)

PMID:22795294 PMID:22795294

RGD:6906881, RGD:6906881

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

G

interleukin 33

severity

associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia

RGD

PMID:25808546 PMID:25808546

RGD:39938855, RGD:39938855

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

G

interleukin 6

susceptibility
treatment

chronic periodontitis

RGD

PMID:17209781 PMID:27795360

RGD:1601588, RGD:14975132

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

G

Janus kinase 1

treatment

associated with Diabetes Mellitus, Experimental

RGD

PMID:26825585 PMID:23333931

RGD:18936995, RGD:18936997

NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926

G

lipopolysaccharide binding protein

associated with Diabetes Mellitus, Type 2;mRNA:increased expression:gingiva

RGD

NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586

G

MET proto-oncogene, receptor tyrosine kinase

mRNA, protein:increased expression:gingival pocket (rat)

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

microRNA 143

severity

RGD

NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110

G

membrane metallo-endopeptidase

mRNA:increased expression:gingiva

RGD

NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792

G

matrix metallopeptidase 1

protein:increased expression, increased activity:gingiva, gingival crevicular fluid (human)

RGD

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

G

matrix metallopeptidase 13

RGD

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

G

matrix metallopeptidase 2

protein:increased expression: periodontal ligament

RGD

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

G

matrix metallopeptidase 3

protein:increased expression:serum

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

PMID:22808498 PMID:24640096

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

G

nicotinamide phosphoribosyltransferase

associated with type 2 diabetes mellitus;mRNA:increased expression:adipose tissue:

RGD

NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100

G

neurotrophic receptor tyrosine kinase 1

protein:increased expression:neuron

RGD

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

poly (ADP-ribose) polymerase 1

RGD

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

G

programmed cell death 1

protein:increased expression:periodontium

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:gingiva, blood vessels (mouse)

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

periostin

protein:decreased expression:mandible:

RGD

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

G

peroxisome proliferator activated receptor alpha

possible therapeutic target

RGD

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

receptor-interacting serine-threonine kinase 3

treatment

associated with Gram-Negative Bacterial Infections

RGD

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

G

signal transducer and activator of transcription 1

treatment

RGD

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 3

treatment

RGD

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

G

toll-like receptor 4

ClinVar Annotator: match by term: Pericementitis

PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 More...

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

G

tumor necrosis factor

treatment

RGD

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

G

triggering receptor expressed on myeloid cells 1

mRNA,protein:increased expression:periodontium

RGD

NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203

G

vascular cell adhesion molecule 1

associated with obesity;protein:increased expression:aorta:

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

vitamin D receptor

ClinVar Annotator: match by term: Periodontitis

PMID:24033266 PMID:25741868 PMID:28492532 PMID:35738466 PMID:15118671

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

G

vasoactive intestinal peptide

RGD

NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216

Periventricular Nodular Heterotopia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NEDD4 like E3 ubiquitin protein ligase

ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay

PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More...

NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137

Peters plus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta 3-glucosyltransferase

OMIM:261540
ClinVar Annotator: match by term: Peters plus syndrome
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More...

NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810

G

fibroblast growth factor 8

ClinVar Annotator: match by term: Peters plus syndrome

PMID:25741868 PMID:28492532 PMID:29584859

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

PLACK syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calpastatin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

OMIM
CTD
ClinVar

PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532

NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659

G

endoplasmic reticulum aminopeptidase 1

ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

PMID:3527073 PMID:25683118

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

pleomorphic adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PLAG1 zinc finger

CTD Direct Evidence: marker/mechanism

NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647

popliteal pterygium syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More...

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

G

receptor-interacting serine-threonine kinase 4

ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650

ClinVar
MouseDO

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

primary failure of tooth eruption

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

parathyroid hormone 1 receptor

DNA:deletions, missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Primary failure of tooth eruption
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, splice-site mutations:p.E155X (c.463G>T), c.543+1G>A, c.1050-3C>G (human)

ClinVar
CTD
OMIM
RGD

PMID:7701349 PMID:8076140 PMID:8703170 PMID:9536098 PMID:9745456 More...

RGD:12910706, RGD:12910708

NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729

pulpitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

RGD

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

G

interleukin 1 receptor type 1

protein:increased expression:dental pulp,trigeminal ganglion:

RGD

NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937

G

toll-like receptor 4

protein:increased expression:ganglion:

RGD

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

Radicular Cyst

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 7

protein:increased expression:periodontal ligament

RGD

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

Raine Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20C, golgi associated secretory pathway kinase

ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human)

OMIM
ClinVar
CTD
RGD

PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More...

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

Rapp-Hodgkin 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: Ectodermal dysplasia, anhidrotic, with cleft lip/palate
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More...

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

root caries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

susceptibility

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

root resorption

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor necrosis factor

RGD

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

G

TNF receptor superfamily member 1A

RGD

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

salivary gland adenoid cystic carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA 155

disease_progression

RGD

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

G

microtubule associated scaffold protein 1

disease_progression

RGD

NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793

G

X-ray repair cross complementing 4

susceptibility

DNA:SNP:intron: (rs13180356) (human)

RGD

NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808

salivary gland cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gon-4 like

NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634

salivary gland carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinase insert domain receptor

disease_progression

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

prostaglandin-endoperoxide synthase 1

disease_progression

RGD

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

RAD52 homolog, DNA repair protein

sexual_dimorphism

DNA:SNP:intron: (rs3748522) (human)

RGD

NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207

G

X-ray repair cross complementing 4

sexual_dimorphism

DNA:SNP:intron: (rs13180356) (human)

RGD

NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808

salivary gland disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caspase 3

associated with Diabetes Mellitus, Insulin-Dependent;protein:increased activity:submandibular gland, acinar cell

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

Salivary Gland Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A7

protein:decreased expression:salivary gland

RGD

NCBI chr15:3,821,798...3,849,659
Ensembl chr15:3,821,845...3,849,385

G

aquaporin 1

CTD Direct Evidence: marker/mechanism

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

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

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

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

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

G

cyclin D1

CTD Direct Evidence: marker/mechanism

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

G

cadherin 1

CTD Direct Evidence: marker/mechanism

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

G

cyclin-dependent kinase inhibitor 1A

onset

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

chromatin assembly factor 1 subunit B

disease_progression

protein:increased expression:salivary gland:

RGD

NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

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

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

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

G

EF-hand domain family, member D1

CTD Direct Evidence: marker/mechanism

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

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

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

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

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

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

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

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor 8

associated with Mammary Neoplasms, Experimental

RGD

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

G

growth arrest-specific 2

CTD Direct Evidence: marker/mechanism

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

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

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

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

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

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

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

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

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

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Salivary gland neoplasm

PMID:17384584 PMID:19255327 PMID:19773371 PMID:23406027 PMID:24006476 More...

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

G

insulin-like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

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

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

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

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

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

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

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

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

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

G

keratin 15

CTD Direct Evidence: marker/mechanism

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

G

keratin 5

CTD Direct Evidence: marker/mechanism

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

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Salivary gland neoplasm

PMID:17384584 PMID:19255327 PMID:19773371 PMID:23406027 PMID:24006476 More...

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

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

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

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

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

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

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

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

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

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

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

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

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

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

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

G

protein kinase D1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

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

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

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

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

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

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

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

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

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

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

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

G

SRY-box transcription factor 4

CTD Direct Evidence: marker/mechanism

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

G

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

CTD Direct Evidence: marker/mechanism

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

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

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

G

versican

CTD Direct Evidence: marker/mechanism

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

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

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

G

X-ray repair cross complementing 1

severity

protein:decreased expression:saliva-secreting gland (human)

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

Schopf-Schulz-Passarge syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 10A

ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More...

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

Schwartz-Jampel syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1
OMIM:255800

OMIM
ClinVar
MouseDO

PMID:11038441 PMID:11101850 PMID:11279527 PMID:11941538 PMID:16199547 More...

NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594

G

low density lipoprotein receptor class A domain containing 2

ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1

PMID:11038441 PMID:11941538 PMID:25504735 PMID:25741868 PMID:26467025 More...

NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140

G

plectin

ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin

NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467

Selective Tooth Agenesis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Tooth agenesis, selective, 1

PMID:19555857 PMID:20002458 PMID:21737554 PMID:25741868 PMID:26387786 More...

NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809

G

msh homeobox 1

ClinVar Annotator: match by term: Tooth agenesis, selective, 1

PMID:8696335 PMID:9742121 PMID:10742093 PMID:12097313 PMID:12807959 More...

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

Selective Tooth Agenesis 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombospondin-type laminin G domain and EAR repeats

ClinVar Annotator: match by term: Tooth agenesis, selective, 10

PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More...

NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914

Selective Tooth Agenesis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectodysplasin-A

ClinVar Annotator: match by term: Tooth agenesis, selective, 2

PMID:25741868 PMID:30526585

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

G

EvC ciliary complex subunit 2

ClinVar Annotator: match by term: Tooth agenesis, selective, 2

NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516

G

Wnt family member 10A

ClinVar Annotator: match by term: Tooth agenesis, selective, 2

PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:25629078 More...

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

Selective Tooth Agenesis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 9

ClinVar Annotator: match by term: Tooth agenesis, selective, 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 More...

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

G

solute carrier family 25 member 21

ClinVar Annotator: match by term: Tooth agenesis, selective, 3

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

Selective Tooth Agenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 10A

ClinVar Annotator: match by term: LATERAL INCISORS, ABSENCE OF | ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More...

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

Selective Tooth Agenesis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 6

ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17332414 PMID:22813217 PMID:23033978 PMID:25741868 PMID:26387593 More...

NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497

Selective Tooth Agenesis 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 10B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, 8

OMIM
CTD
ClinVar

PMID:25741868 PMID:27321946 PMID:28492532

NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892

Selective Tooth Agenesis 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gremlin 2, DAN family BMP antagonist

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tooth agenesis, selective, 9

OMIM
CTD
ClinVar

PMID:23401279 PMID:25741868 PMID:26416033

NCBI chr13:86,778,543...86,871,509
Ensembl chr13:86,778,500...86,871,615

Selective Tooth Agenesis, X-Linked, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectodysplasin-A

ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9683615 PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 More...

NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172

Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 10, member 7

ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis

PMID:25741868 PMID:29878199 PMID:30082715

NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464

SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay

PMID:25741868 PMID:31089205 PMID:31695177

NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114

sialadenitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 2

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

Cd4 molecule

treatment

RGD

NCBI chr 4:157,668,878...157,695,366

G

interleukin 27

exacerbates

mRNA:increased expression:saliva-secreting gland (mouse)

RGD

NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582

Sialorrhea

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tachykinin, precursor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178

G

transcription factor 4

ClinVar Annotator: match by term: Drooling

NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425

Singleton Merten Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456

Singleton-Merten Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Singleton-Merten syndrome 1

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More...

NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456

Singleton-Merten Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA sensor RIG-1

ClinVar Annotator: match by term: Singleton-Merten syndrome 2

PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532

NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819

Sjogren's syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autoimmune regulator

OMIM:270150

NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060

G

apolipoprotein E

onset

DNA:polymorphism:exon:

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

brain-derived neurotrophic factor

severity

protein:increased expression:serum:

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

bone marrow stromal cell antigen 2

mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte:

RGD

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

G

complement C3

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

calpastatin

associated with Lupus Erythematosus, Systemic

RGD

NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659

G

C-C motif chemokine receptor 5

no_association

DNA:frameshift mutation: :p.S185_T195del (rs333) (human)

RGD

PMID:12412204 PMID:23773920

RGD:8551796, RGD:8551818

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

C-C motif chemokine receptor 7

OMIM:270150

NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309

G

CD40 ligand

protein:increased expression:salivary ductal epithelium (human)

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

C-reactive protein

associated with Arthritis, Rheumatoid;protein:increased expression:serum:

RGD

PMID:2353152 PMID:16013223

RGD:9491774, RGD:9491835

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human)
mRNA:increased expression:salivary gland:

RGD

PMID:16869018 PMID:12528117

RGD:7421506, RGD:7421519

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 19, subfamily a, polypeptide 1

OMIM:270150

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

cytochrome P450, family 1, subfamily a, polypeptide 1

associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human)

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

diacylglycerol kinase, theta

CTD Direct Evidence: marker/mechanism

NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131

G

E2F transcription factor 1

OMIM:270150

NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361

G

Fas cell surface death receptor

protein:increased expression:serum (human)
OMIM:270150
protein:decreased expression:lacrimal gland, lymphocyte (mouse)

PMID:9890678 PMID:9870874 PMID:11157873

RGD:8662410, RGD:8662451, RGD:8662436

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

glial cell derived neurotrophic factor

RGD

NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209

G

general transcription factor II I

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243

G

heme oxygenase 1

treatment

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

heterogeneous nuclear ribonucleoprotein H1

RGD

NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846

G

intercellular adhesion molecule 1

treatment

protein:increased expression:salivary gland
protein:increased expression:plasma

RGD

PMID:11359451 PMID:21589878 PMID:15037117

RGD:8158122, RGD:8547705, RGD:8547696

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

inhibitor of DNA binding 3

OMIM:270150

NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349

G

interferon gamma

RGD

PMID:15584966 PMID:28421993

RGD:8142390, RGD:14975117

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 12A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734

G

interleukin 13

protein:increased expression:serum

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

protein:increased expression:saliva

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 receptor antagonist

DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
protein:increased expression:conjunctiva (human)

RGD

PMID:9646842 PMID:11527941

RGD:8549786, RGD:8549807

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

OMIM:270150

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 23 receptor

protein:increased expression:minor salivary gland:

RGD

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 2 receptor subunit alpha

OMIM:270150

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

interleukin 4

OMIM:270150

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

severity

protein:increased expression:plasma:
DNA:polymorphims:promoter:-174G>C(human)

RGD

PMID:11426023 PMID:11426023

RGD:7829718, RGD:7829718

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin-1 receptor-associated kinase 1 binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289

G

intersectin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124

G

lymphotoxin alpha

no_association
susceptibility

DNA:SNPs: :multiple (human)
DNA:SNP, haplotype:intron: (rs909253) (human)
protein:increased expression:saliva, serum

RGD

PMID:20952683 PMID:22294627 PMID:22294627 PMID:20952683

RGD:8548776, RGD:8548787, RGD:8548787, RGD:8548776

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

mitogen-activated protein kinase kinase kinase 14

OMIM:270150

NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523

G

matrix metallopeptidase 3

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

protein:increased activity:saliva

RGD

PMID:15316122 PMID:9923658

RGD:8547814, RGD:8547858

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mucin 16, cell surface associated

mRNA, protein:increased expression:conjunctival epithelial cell, tear

RGD

NCBI chr 8:16,164,531...16,323,126

G

mucin 19, oligomeric

mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150

NCBI chr 7:123,017,896...123,139,053
Ensembl chr 7:123,017,896...123,139,053

G

mucin 5AC, oligomeric mucus/gel-forming

mRNA:decreased expression:conjunctival epithelial cell

RGD

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646

G

neurofilament light chain

protein:increased expression:CSF (human)

RGD

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

NFKB inhibitor alpha

OMIM:270150

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

pleckstrin homology domain interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283

G

paraoxonase 1

protein:decreased activity:serum (human)

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

PR/SET domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488

G

protein tyrosine phosphatase, non-receptor type 22

no_association

DNA:snp:cds:c.1858C>T (human)

RGD

PMID:16163373 PMID:15933742

RGD:11534998, RGD:11534999

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

PTTG1 regulator of sister chromatid separation, securin

CTD Direct Evidence: marker/mechanism

NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837

G

regenerating family member 1 alpha

protein:increased expression:minor salivary gland, salivary ductal epithelium (human)

RGD

NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570

G

RAR-related orphan receptor C

OMIM:270150

NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2;

RGD

PMID:11555411 PMID:21315052

RGD:5147809, RGD:7421543

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)

RGD

PMID:21315052 PMID:17489060 PMID:8468491

RGD:7421543, RGD:36174022, RGD:7483566

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism:cds:HLA-DRB1*0301 (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

SATB homeobox 1

OMIM:270150

NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251

G

selectin P

protein:increased expression:plasma

RGD

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

G

ST14 transmembrane serine protease matriptase

OMIM:270150

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

G

signal transducer and activator of transcription 4

susceptibility
no_association

DNA:SNP:intron: (rs7582694) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs7574865) (human)

CTD
RGD

PMID:24097066 PMID:24097067 PMID:20535138 PMID:20360187 PMID:18273036

RGD:8661690, RGD:8661709, RGD:8661708

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

transforming growth factor, beta 1

severity

OMIM:270150

PMID:9358754 PMID:7554451

RGD:7394829, RGD:7394845

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thrombospondin 1

OMIM:270150

NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440

G

tumor necrosis factor

treatment

DNA:polymorphism: :-1031T>C(human)

RGD

PMID:22703762 PMID:24941846

RGD:7394766, RGD:10450595

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF alpha induced protein 3

CTD Direct Evidence: marker/mechanism

PMID:24097066 PMID:24097067

NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282

G

TNF superfamily member 13b

OMIM:270150

NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693

G

TNFAIP3 interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625

G

Traf3 interacting protein 2

OMIM:270150

NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667

G

vimentin

RGD

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

G

vasoactive intestinal peptide

RGD

NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216

Sjögren-Mikulicz Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion: :

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

Sleep Bruxism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5-hydroxytryptamine receptor 2A

susceptibility

DNA:SNP: :102T>C (rs6313)

RGD

NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928

solitary median maxillary central incisor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sonic hedgehog signaling molecule

ClinVar Annotator: match by term: SMMCI SYNDROME | ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9302262 PMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 More...

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

SIX homeobox 3

ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome

PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 More...

NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301

Stevens-Johnson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

CTD Direct Evidence: therapeutic

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

amyloid P component, serum

CTD Direct Evidence: marker/mechanism

NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298

G

complement C1q A chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534

G

complement C1q C chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017

G

caveolin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

CUGBP, Elav-like family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333

G

complement factor H-related 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592

G

complement factor properdin

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573

G

clusterin

mRNA:decreased expression:conjunctiva

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

COP9 signalosome subunit 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:9,192,100...9,210,731

G

C-reactive protein

CTD Direct Evidence: marker/mechanism

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

cullin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980

G

cullin 4A

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,385,298...76,422,316
Ensembl chr16:76,384,546...76,422,330

G

derlin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:89,404,413...89,427,095
Ensembl chr 7:89,404,417...89,427,145

G

engulfment and cell motility 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

F-box protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525

G

glutathione S-transferase mu 1

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

lipopolysaccharide binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586

G

leucine-rich alpha-2-glycoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813

G

macrophage migration inhibitory factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504

G

microRNA 18a

CTD Direct Evidence: marker/mechanism

NCBI chr15:92,180,765...92,180,860
Ensembl chr15:92,180,765...92,180,860

G

NEDD4 E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951

G

NFKB inhibitor zeta

NCBI chr11:44,782,676...44,810,722
Ensembl chr11:44,782,676...44,810,723

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nucleobindin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,968,325...95,999,183
Ensembl chr 1:95,968,326...96,003,220

G

orosomucoid 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154

G

poly (ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

PML nuclear body scaffold

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971

G

protein S

CTD Direct Evidence: marker/mechanism

NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286

G

proteasome 26S subunit, ATPase 5

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,187,763...91,193,697
Ensembl chr10:91,187,743...91,213,135

G

prostaglandin E receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434

G

prostaglandin I2 synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

ring-box 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism:cds:HLA-DQB1*0601 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class I, locus CE13

susceptibility

DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)

RGD

PMID:19018717 PMID:23692434

RGD:7364874, RGD:7365090

NCBI chr20:3,314,830...3,318,106

G

RT1 class I, locus CE16

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to

CTD
OMIM
ClinVar

PMID:16538176 PMID:21428769 PMID:23588310

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

G

tumor necrosis factor

protein:increased expression:blister:

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

valosin-containing protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

G

von Willebrand factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

stomatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catalase

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

cytochrome b5 type A

RGD

NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535

G

nibrin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150

G

X-ray repair cross complementing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

submandibular gland disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibronectin 1

RGD

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

Supernumerary Tooth

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LEM domain nuclear envelope protein 2

ClinVar Annotator: match by term: Teeth, supernumerary

PMID:25741868 PMID:30905398

NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626

suppurative periapical periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastase, neutrophil expressed

protein:increased expression:neutrophil:

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

Taurodontism, Microdontia, and Dens Invaginatus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 4A

ClinVar Annotator: match by term: KIF4A-related condition | ClinVar Annotator: match by term: Taurodontism, microdontia, and dens invaginatus

PMID:271276 PMID:25741868 PMID:28492532 PMID:31616463

NCBI chr X:65,721,746...65,824,277
Ensembl chr X:65,721,779...65,824,139

temtamy preaxial brachydactyly syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chondroitin sulfate synthase 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome

OMIM
CTD
ClinVar

PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More...

NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601

tongue cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DEAD-box helicase 3, X-linked

ameliorates

RGD

NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168

G

fibroblast growth factor receptor 3

severity

associated with human papillomavirus;protein:decreased expression:tumor cells

RGD

NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341

G

microRNA 155

miRNA:decreased expression:tongue

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

RPTOR independent companion of MTOR, complex 2

disease_progression

protein:increased expression:tongue (human)

RGD

NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426

tongue carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BUB1 mitotic checkpoint serine/threonine kinase B

associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human)

RGD

NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547

Tongue Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

treatment

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

aquaporin 3 (Gill blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720

G

BCL2, apoptosis regulator

protein:increased expression:tongue:

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

cyclin-dependent kinase inhibitor 1A

disease_progression

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 2A

severity

DNA:point mutations, missense mutation:exon
protein:decreased expression:tongue
DNA:loss of heterozygosity

RGD

PMID:17091472 PMID:18804414 PMID:16527513

RGD:1600814, RGD:11252155, RGD:1578522

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2B

DNA:loss of heterozygosity

RGD

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

crystallin, alpha B

CTD Direct Evidence: marker/mechanism

NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157

G

Fos proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue epithelium

RGD

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

HRas proto-oncogene, GTPase

susceptibility

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20043093 PMID:20043093

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

insulin-like growth factor 1

protein:decreased expression:blood:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

JunB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue epithelium

RGD

NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

G

keratin 14

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799

G

microRNA 222

CTD Direct Evidence: marker/mechanism

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

metallothionein 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049

G

8-oxoguanine DNA glycosylase

protein:decreased expression:saliva

RGD

NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:16543248 PMID:22561872

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

superoxide dismutase 2

mRNA,protein:increased expression:tongue:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20618948 PMID:20618948

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

signal transducer and activator of transcription 3

disease_progression

RGD

PMID:17169602 PMID:22302289

RGD:8694287, RGD:8694311

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

telomerase RNA component

CTD Direct Evidence: therapeutic

NCBI chr 2:112,815,654...112,816,041

G

toll-like receptor 5

protein:increased expression:tongue:

RGD

NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738

G

tumor necrosis factor

mRNA,protein:increased expression:tongue:
protein:increased expression:saliva

RGD

PMID:14747060 PMID:21397550

RGD:7401243, RGD:7401244

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

tumor protein p53

CTD Direct Evidence: marker/mechanism
protein:increased expression:tongue:
DNA:mutations:cds:

CTD
RGD

PMID:16543248 PMID:21903770 PMID:9485768 PMID:12167434

RGD:8547850, RGD:8547872, RGD:8547871

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

G

vascular endothelial growth factor A

disease_progression

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vascular endothelial growth factor C

disease_progression

RGD

NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848

tongue squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

protein:increased activity:saliva:

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

adiponectin, C1Q and collagen domain containing

disease_progression

protein:decreased expression:serum

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

BCL2, apoptosis regulator

protein:increased expression:tongue (human)

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

baculoviral IAP repeat-containing 2

exacerbates

protein:increased expression:tongue (human)

RGD

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

BMP/retinoic acid inducible neural specific 3

mRNA:decreased expression:tongue:

RGD

NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770

G

caveolin 2

protein:increased expression:mucosa of tongue

RGD

NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244

G

cyclin D1

protein:increased expression:tongue (human)

RGD

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin-dependent kinase inhibitor 1A

disease_progression

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

epidermal growth factor receptor

treatment

RGD

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

erb-b2 receptor tyrosine kinase 3

disease_progression

RGD

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

severity

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

FA complementation group B

RGD

NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192

G

FA complementation group C

RGD

NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376

G

FA complementation group F

mRNA:decreased expression:tongue:

RGD

NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923

G

FA complementation group G

RGD

NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

G

FA complementation group I

RGD

NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

G

FA complementation group L

RGD

NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255

G

FA complementation group M

RGD

NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028

G

Fos proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

RGD

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

FosB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

RGD

NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465

G

FOS like 1, AP-1 transcription factor subunit

protein:decreased expression:tongue (human)

RGD

NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930

G

FOS like 2, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

RGD

NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034

G

far upstream element binding protein 1

exacerbates

mRNA, protein:increased expression:tongue (human)

RGD

NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602

G

gap junction protein, alpha 1

protein:decreased expression:epithelium

RGD

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

G

hepatocyte growth factor

protein:increased expression:tongue:

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

interferon gamma

disease_progression

protein:decreased expression:serum:

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

disease_progression

protein:increased expression:serum:

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 receptor-like 1

disease_progression

RGD

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 2

protein:decreased expression:serum:

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 33

disease_progression

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

Janus kinase 3

disease_progression

RGD

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA,protein:increased expression:tongue (human)

RGD

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

JunB proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

RGD

NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

G

JunD proto-oncogene, AP-1 transcription factor subunit

protein:increased expression:tongue (human)

RGD

NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799

G

kinase insert domain receptor

treatment

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

mitogen activated protein kinase kinase 4

mRNA:increased expression:tongue squamous epithelium (human)

RGD

NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:tongue:

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

matrix metallopeptidase 9

protein:increased expression:tongue (human)

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

microtubule associated scaffold protein 1

disease_progression

RGD

NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793

G

solute carrier family 1 member 5

disease_progression

RGD

NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952

G

solute carrier family 3 member 2

disease_progression

RGD

NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931

G

solute carrier family 7 member 11

severity

RGD

NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536

G

solute carrier family 7 member 5

disease_progression

RGD

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

G

SRY-box transcription factor 2

disease_progression

RGD

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

G

tumor protein p53

protein:increased expression:tongue:

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

Tooth Abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANKH inorganic pyrophosphate transport regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

LDL receptor related protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593

G

msh homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966

G

paired box 6

CTD Direct Evidence: marker/mechanism

PMID:7559133 PMID:9363853

NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014

G

paired-like homeodomain 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293

G

RUNX family transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

G

solute carrier family 39 member 13

CTD Direct Evidence: marker/mechanism

PMID:18985159 PMID:22228435

NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226

G

T-box transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708

G

transmembrane and coiled-coil domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555

tooth agenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AP2 associated kinase 1

ClinVar Annotator: match by term: Tooth agenesis

NCBI chr 4:119,300,128...119,451,834
Ensembl chr 4:119,295,257...119,450,969

G

axin 2

ClinVar Annotator: match by term: Oligodontia

PMID:15042511 PMID:21416598 PMID:21626677 PMID:25637381 PMID:25741868 More...

NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231

G

bone morphogenetic protein 2

DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human)

RGD

NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397

G

bone morphogenetic protein 4

susceptibility

DNA:SNP: :rs17563(human)
ClinVar Annotator: match by term: Tooth agenesis
DNA:SNP:cds:c.455T>C(p.V152A)(human)

PMID:26166641 PMID:23079991

RGD:13442494, RGD:13446405

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

ectodysplasin-A

ClinVar Annotator: match by term: Hypodontia

PMID:19623212 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Oligodontia

NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494

G

EDAR associated via death domain

ClinVar Annotator: match by term: Tooth agenesis

NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447

G

LDL receptor related protein 6

ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis

PMID:22813217 PMID:23033978 PMID:25741868 PMID:26963285 PMID:28492532

NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497

G

msh homeobox 1

OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Oligodontia

MouseDO
ClinVar

NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966

G

paired box 9

OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis

MouseDO
ClinVar

PMID:12605438 PMID:14607846 PMID:16236760 PMID:16479262 PMID:19429910 More...

NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506

G

parathyroid hormone 1 receptor

ClinVar Annotator: match by term: Oligodontia

NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729

G

RAN binding protein 2

ClinVar Annotator: match by term: Oligodontia

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

G

regulatory factor X2

ClinVar Annotator: match by term: Tooth agenesis

NCBI chr 9:1,604,636...1,671,220
Ensembl chr 9:1,604,646...1,671,027

G

SEH1-like nucleoporin

ClinVar Annotator: match by term: Tooth agenesis

NCBI chr18:61,346,986...61,369,987

G

solute carrier family 25 member 21

ClinVar Annotator: match by term: Tooth agenesis

NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680

G

VPS54 subunit of GARP complex

ClinVar Annotator: match by term: Tooth agenesis

NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857

G

Wnt family member 10A

ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis

PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More...

NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400

tooth and nail syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 4 open reading frame 50

ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome

PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532

NCBI chr14:73,561,209...73,646,151
Ensembl chr14:73,564,447...73,679,357

G

collapsin response mediator protein 1

ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome

PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532

NCBI chr14:73,509,933...73,556,192
Ensembl chr14:73,509,933...73,556,177

G

cytokine like 1

ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome

PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532

NCBI chr14:73,053,876...73,058,886
Ensembl chr14:73,053,877...73,058,886

G

EvC ciliary complex subunit 1

ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome

PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532

NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099

G

EvC ciliary complex subunit 2

ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome

PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532

NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516

G

janus kinase and microtubule interacting protein 1

ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome

PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532

NCBI chr14:73,646,299...73,766,830
Ensembl chr14:73,632,428...73,713,993

G

msh homeobox 1

ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar Annotator: match by term: Tooth-and-Nail Syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 More...

NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966

G

serine/threonine kinase 32B

ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome

PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532

NCBI chr14:73,077,944...73,337,976
Ensembl chr14:73,078,061...73,336,458

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome

PMID:9742121 PMID:10742093 PMID:14630905 PMID:28492532

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

Tooth Demineralization

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20C, golgi associated secretory pathway kinase

associated with Rickets, Hypophosphatemic;DNA:snps, missense mutation, nonsense mutation:multiple (human)

RGD

NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543

tooth disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

Toothache

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neuropeptide Y receptor Y1

CTD Direct Evidence: therapeutic

NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759

trichodontoosseous syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 3

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595

G

ABI family, member 3

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,769,819...80,780,816
Ensembl chr10:80,769,822...80,780,816

G

acyl-CoA synthetase family member 2

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673

G

ankyrin repeat domain 40

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,282,075...79,295,322
Ensembl chr10:79,282,075...79,295,320

G

ATP synthase membrane subunit c locus 1

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:81,024,056...81,026,780
Ensembl chr10:81,023,925...81,027,124
Ensembl chr10:81,023,925...81,027,124

G

beta-1,4-N-acetyl-galactosaminyl transferase 2

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,801,594...80,828,005
Ensembl chr10:80,802,941...80,857,700

G

calcium voltage-gated channel subunit alpha1 G

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752

G

calcium binding and coiled-coil domain 2

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:81,055,467...81,069,298

G

chondroadherin

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,512,170...79,515,941
Ensembl chr10:79,511,931...79,515,940

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

distal-less homeobox 3

ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More...

NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872

G

distal-less homeobox 4

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,085,037...80,090,434
Ensembl chr10:80,085,465...80,090,456

G

essential meiotic structure-specific endonuclease 1

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,586,718...79,595,515
Ensembl chr10:79,586,729...79,595,435

G

epsin 3

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,438,978...79,449,516
Ensembl chr10:79,438,978...79,447,356

G

family with sequence similarity 117, member A

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,281,411...80,325,345
Ensembl chr10:80,281,408...80,325,343

G

gastric inhibitory polypeptide

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503

G

G protein subunit gamma transducin 2

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,776,003...80,784,235

G

homeo box B13

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777

G

insulin-like growth factor 2 mRNA binding protein 1

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129

G

integrin subunit alpha 3

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118

G

lysine acetyltransferase 7

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567

G

leucine rich repeat containing 59

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533

G

LUC7-like 3 pre-mRNA splicing factor

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,240,050...79,276,555
Ensembl chr10:79,240,563...79,276,538

G

mitochondrial ribosomal protein L27

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,595,459...79,601,242
Ensembl chr10:79,595,479...79,601,239

G

Mycbp associated protein

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,450,319...79,470,977
Ensembl chr10:79,450,324...79,470,828

G

nerve growth factor receptor

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

neurexophilin 3

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,456,283...80,459,949
Ensembl chr10:80,455,429...80,462,415

G

pyruvate dehydrogenase kinase 2

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085

G

prohibitin 1

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042

G

phosphoethanolamine/phosphocholine phosphatase 1

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,762,062...80,769,596
Ensembl chr10:80,760,792...80,770,342

G

protein phosphatase 1, regulatory subunit 9B

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083

G

radical S-adenosyl methionine domain containing 1

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,485,253...79,499,616
Ensembl chr10:79,489,909...79,499,573

G

sterile alpha motif domain containing 14

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341

G

sarcoglycan, alpha

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813

G

solute carrier family 35, member B1

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,327,921...80,335,279
Ensembl chr10:80,327,945...80,335,274

G

SNF8 subunit of ESCRT-II

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734

G

spermatogenesis associated 20

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368

G

speckle type BTB/POZ protein

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955

G

tachykinin precursor 4

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,207,824...80,216,156
Ensembl chr10:80,207,610...80,216,156

G

transmembrane protein 92

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,749,242...79,760,807

G

tubulin tyrosine ligase like 6

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:81,081,985...81,118,009
Ensembl chr10:81,091,975...81,127,234

G

ubiquitin-conjugating enzyme E2Z

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,997,816...81,016,936
Ensembl chr10:80,997,817...81,016,936

G

xylosyltransferase 2

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391

G

zinc finger protein 652

ClinVar Annotator: match by term: Tricho-dento-osseous syndrome

NCBI chr10:80,626,555...80,706,397
Ensembl chr10:80,649,400...80,698,674

Trigeminal Nerve Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

trigeminal neuralgia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

G

calcitonin-related polypeptide alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

cyclin-dependent kinase 5

RGD

NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112

G

cyclin-dependent kinase 5 regulatory subunit 1

RGD

NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

gamma-aminobutyric acid type A receptor subunit gamma 1

OMIM:190400

NCBI chr14:37,396,217...37,469,606
Ensembl chr14:37,396,294...37,635,956

G

glial fibrillary acidic protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589

G

glutamate ionotropic receptor NMDA type subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

mitogen activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

mitogen-activated protein kinase 8

CTD Direct Evidence: marker/mechanism

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

mitogen-activated protein kinase 9

CTD Direct Evidence: marker/mechanism

NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178

G

microRNA 125a

RNA:decreased expression: trigeminal ganglion:

RGD

NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710

G

protein kinase C, gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

uveal coloboma-cleft lip and palate-intellectual disability

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition

OMIM
CTD
ClinVar

PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532

NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010

Van der Woude syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 1 open reading frame 74

ClinVar Annotator: match by term: Van der Woude syndrome 1

NCBI chr13:104,692,769...104,695,368
Ensembl chr13:104,692,824...104,695,470

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: Van der Woude syndrome 1

PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943

NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450

G

grainyhead-like transcription factor 3

OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1

MouseDO
ClinVar

PMID:25741868 PMID:36901693

NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1
OMIM:119300 | OMIM:606713
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 More...

NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386

Van der Woude Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cilia and flagella associated protein 57

ClinVar Annotator: match by term: Van der Woude syndrome 2

PMID:21574244 PMID:25741868

NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462

G

grainyhead-like transcription factor 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van der Woude syndrome 2

OMIM
CTD
ClinVar

PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More...

NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160

G

sperm-tail PG-rich repeat containing 1

ClinVar Annotator: match by term: Van der Woude syndrome 2

PMID:25741868 PMID:28492532

NCBI chr 5:147,717,084...147,769,792
Ensembl chr 5:147,726,646...147,769,788

Vesicular Stomatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

euchromatic histone lysine methyltransferase 2

CTD Direct Evidence: therapeutic

NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547

G

receptor-interacting serine-threonine kinase 3

ameliorates

RGD

NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121

G

signal transducer and activator of transcription 2

exacerbates

RGD

NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967

Weyers acrofacial dysostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EvC ciliary complex subunit 1

ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17576681 More...

NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099

G

EvC ciliary complex subunit 2

ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:12571802 PMID:16404586 PMID:17024374 PMID:17576681 More...

NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516

X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

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: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672

X-linked cleft palate with or without ankyloglossia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

T-box transcription factor 22

OMIM:303400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate X-linked | ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked

OMIM
MouseDO
CTD
ClinVar

PMID:839509 PMID:14729838 PMID:16247549 PMID:17868388 PMID:22784330 More...

NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647

Xerostomia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 4

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

Zimmerman Laband Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V1 subunit B2

CTD Direct Evidence: marker/mechanism

NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745

G

potassium voltage-gated channel subfamily H member 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laband syndrome

PMID:23020937 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 More...

NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740

Zimmermann-Laband Syndrome 1

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: Zimmermann-Laband syndrome 1

PMID:18541964 PMID:23994350 PMID:25915598

NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745

G

potassium voltage-gated channel subfamily H member 1

ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1

PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 More...

NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740

Zimmermann-Laband Syndrome 2

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: Zimmermann-Laband syndrome 2

PMID:18541964 PMID:23994350 PMID:25741868 PMID:25915598

NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745

Zimmermann-Laband Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium calcium-activated channel subfamily N member 3

ClinVar Annotator: match by term: Zimmermann-laband syndrome 3

PMID:24033266 PMID:25741868 PMID:31155282

NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145

Term paths to the root

Path 1
Term	Annotations
disease	18969
Stomatognathic Diseases	1347
mouth disease	1018
Behcet's disease	76
Edentulous Mouth +	4
Hemifacial Spasm +	1
Ludwig's angina	0
Mouth Abnormalities +	170
Mouth Neoplasms +	269
Oral Fistula +	0
Oral Hemorrhage +	0
Oral Lichen Planus	17
Oral Manifestations +	1
Oral Ulcer	4
Orofacial Granulomatosis	0
Trichomonas tenax trichomoniasis	0
alveolar periostitis	0
bejel	0
burning mouth syndrome +	0
facial hemiatrophy	0
facial nerve disease +	55
focal epithelial hyperplasia	0
herpangina +	0
lip disease +	215
mucositis +	16
noma +	0
oral candidiasis	5
oral cavity carcinoma in situ +	1
oral hairy leukoplakia	0
oral leukoedema	0
oral mucosa leukoplakia +	13
oral submucous fibrosis	21
oral tuberculosis	0
periodontal disease +	135
salivary gland disease +	138
stomatitis +	59
tongue disease +	94
tooth disease +	446
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
Neurologic Manifestations	10055
sensory system disease	6961
mouth disease	1018
Behcet's disease	76
Edentulous Mouth +	4
Hemifacial Spasm +	1
Ludwig's angina	0
Mouth Abnormalities +	170
Mouth Neoplasms +	269
Oral Fistula +	0
Oral Hemorrhage +	0
Oral Lichen Planus	17
Oral Manifestations +	1
Oral Ulcer	4
Orofacial Granulomatosis	0
Trichomonas tenax trichomoniasis	0
alveolar periostitis	0
bejel	0
burning mouth syndrome +	0
facial hemiatrophy	0
facial nerve disease +	55
focal epithelial hyperplasia	0
herpangina +	0
lip disease +	215
mucositis +	16
noma +	0
oral candidiasis	5
oral cavity carcinoma in situ +	1
oral hairy leukoplakia	0
oral leukoedema	0
oral mucosa leukoplakia +	13
oral submucous fibrosis	21
oral tuberculosis	0
periodontal disease +	135
salivary gland disease +	138
stomatitis +	59
tongue disease +	94
tooth disease +	446

paths to the root