tooth 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:	tooth disease	go back to main search page
Accession:	DOID:1091	browse the term
Definition:	A mouth disease located_in the teeth. (DO)
Synonyms:	exact_synonym:	teeth disease; tooth diseases
	primary_id:	MESH:D014076
	xref:	EFO:1001216
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (465) Mouse (461) Human (20088) Chinchilla (425) Bonobo (455) Dog (454) Squirrel (428) Pig (443) Green Monkey (448) Naked Mole-rat (429) All
Genes (458) Strains (7)

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

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: Congenital enamel hypoplasia

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

G

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

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:16484981 PMID:25741868 PMID:28492532

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

G

distal-less homeobox 3

ClinVar Annotator: match by term: Congenital enamel hypoplasia

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

G

enamelin

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

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

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

G

FAM20C, golgi associated secretory pathway kinase

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

RGD

PMID:22732358 PMID:25928877

RGD:11560487, RGD:11560491

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

G

family with sequence similarity 83, member H

CTD Direct Evidence: marker/mechanism

PMID:18484629 PMID:19407157

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

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

kallikrein-related peptidase 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

laminin subunit beta 3

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1

PMID:25741868 PMID:28492532

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

G

latent transforming growth factor beta binding protein 3

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

PMID:25669657 PMID:35998423

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

G

phosphoserine phosphatase

ClinVar Annotator: match by term: Congenital enamel hypoplasia

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

G

RELT, TNF receptor

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:25741868 PMID:30506946 PMID:32052416

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

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Amelogenesis imperfecta

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

G

Sp6 transcription factor

RGD

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

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis imperfecta

PMID:24033266 PMID:25741868

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

amelogenesis imperfecta hypomaturation type 2A2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 20

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

OMIM
ClinVar
MouseDO
CTD

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

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

amelogenesis imperfecta hypomaturation type 2A3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 72

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

OMIM
MouseDO
CTD
ClinVar

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

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

amelogenesis imperfecta hypomaturation type 2A4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

odontogenesis associated phosphoprotein

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

PMID:22901946 PMID:25741868

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

amelogenesis imperfecta hypomaturation type 2A5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 24 member 4

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

PMID:23375655 PMID:24621671 PMID:25741868

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

amelogenesis imperfecta type 1A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XVII alpha 1 chain

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

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

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

G

laminin subunit beta 3

ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

amelogenesis imperfecta type 1B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XVII alpha 1 chain

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

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

G

distal-less homeobox 3

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant

PMID:25741868 PMID:28492532

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

G

enamelin

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

MouseDO
CTD
ClinVar
OMIM
RGD

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

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

amelogenesis imperfecta type 1C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enamelin

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

OMIM
ClinVar
CTD

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

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

G

matrix metallopeptidase 20

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

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

G

WD repeat domain 72

ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive

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

amelogenesis imperfecta type 1E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelogenin, X-linked

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

OMIM
MouseDO
CTD
ClinVar

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

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

G

Rho GTPase activating protein 6

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

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

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

amelogenesis imperfecta type 1F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ameloblastin

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

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

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

amelogenesis imperfecta type 1G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A, golgi associated secretory pathway pseudokinase

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

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

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

G

protein kinase cAMP-dependent type I regulatory subunit alpha

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

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

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

amelogenesis imperfecta type 1H

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 6

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

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

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

amelogenesis imperfecta type 1J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 4

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

PMID:25741868 PMID:27843125 PMID:28513613

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

amelogenesis imperfecta type 1K

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Sp6 transcription factor

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

amelogenesis imperfecta type 2A1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kallikrein-related peptidase 4

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

OMIM
CTD
ClinVar

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

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

amelogenesis imperfecta type 2A6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 68

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

PMID:25741868 PMID:27693231

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

amelogenesis imperfecta type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 83, member H

ClinVar Annotator: match by term: hypocalcified amelogenesis imperfecta

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

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

amelogenesis imperfecta type 3A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

family with sequence similarity 83, member H

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

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

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

amelogenesis imperfecta type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amelotin

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

amelogenesis imperfecta type 3C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELT, TNF receptor

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

OMIM
MouseDO
ClinVar

PMID:28492532 PMID:30506946 PMID:32052416

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

amelogenesis imperfecta type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

distal-less homeobox 3

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

OMIM
CTD
ClinVar

PMID:25741868 PMID:28492532

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

anodontia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axin 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

G

dickkopf WNT signaling pathway inhibitor 1

DNA:SNP: :rs11001553 (human)

RGD

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

G

ectodysplasin-A

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

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

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

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

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

G

GLI family zinc finger 3

DNA:SNP: :rs929387 (human)

RGD

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

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

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

G

inosine triphosphatase

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

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

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

G

keratinocyte differentiation factor 1

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

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

G

latent transforming growth factor beta binding protein 3

CTD Direct Evidence: marker/mechanism

PMID:19344874 PMID:25899461

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

G

matrix metallopeptidase 13

DNA:SNP: :rs2252070 (human)

RGD

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

G

matrix metallopeptidase 9

DNA:SNP: :rs17576 (human)

RGD

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

G

msh homeobox 1

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

CTD
RGD

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

G

paired box 9

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

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

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

G

RAN binding protein 2

ClinVar Annotator: match by term: Non-syndromic oligodontia

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

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

G

solute carrier family 25 member 21

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

PMID:11827258 PMID:28492532

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

Anodontia of Permanent Dentition

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Sbds, ribosome maturation factor

ClinVar Annotator: match by term: Anodontia of permanent dentition

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

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

anterior segment dysgenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeodomain 2

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

OMIM
ClinVar
CTD

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

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

AURONEURODENTAL SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronidase 3

ClinVar Annotator: match by term: Auroneurodental syndrome

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

G

N(alpha)-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Auroneurodental syndrome

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

autosomal dominant congenital deafness with onychodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V1 subunit B2

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

OMIM
MouseDO
CTD
ClinVar

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

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

Autosomal Dominant 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

high mobility group nucleosomal binding domain 2

OMIM:180500

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

G

La ribonucleoprotein 7, transcriptional regulator

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

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

G

neurogenin 2

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

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

G

paired-like homeodomain 2

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

OMIM
ClinVar
MouseDO

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

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

G

PR/SET domain 5

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

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

G

TRAF-interacting protein with forkhead-associated domain

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

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

G

zinc finger, GRF-type containing 1

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

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

blepharocheilodontic syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1

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

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

blepharocheilodontic syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin delta 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2

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

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

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

cerebellofaciodental syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRF1 general transcription factor IIIB subunit

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

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

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

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

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: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal 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

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)
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 More...

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

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

ClinVar Annotator: match by term: Craniosynostosis and dental anomalies

PMID:21741611 PMID:25741868 PMID:32860008 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 caries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cathelicidin antimicrobial peptide

RGD

NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543

G

formyl peptide receptor 2

RGD

NCBI chr 1:58,776,592...58,785,227
Ensembl chr 1:58,776,752...58,786,019

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

ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II

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

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

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 3, Anhidrotic | 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 3, Anhidrotic

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 3, Anhidrotic

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 3, Anhidrotic

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 3, Anhidrotic

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 3, Anhidrotic

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

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 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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 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 10B, hypohidrotic/hair/tooth type, autosomal recessive

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: Autosomal recessive hypohidrotic ectodermal dysplasia

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: Autosomal recessive hypohidrotic ectodermal dysplasia

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 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:10431242 PMID:11279189 PMID:15373768 PMID:16435307 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: Autosomal recessive hypohidrotic ectodermal dysplasia

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: Autosomal recessive hypohidrotic ectodermal dysplasia

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: Autosomal recessive hypohidrotic ectodermal dysplasia

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 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

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

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:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 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

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

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

ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2

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

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

PMID:25741868 PMID:35142290

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

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, 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 Fibromatosis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger protein 862

ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, 6

PMID:25741868 PMID:35142290

NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995

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

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

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

guanylate cyclase 2E

ClinVar Annotator: match by term: POLR3-related leukodystrophy

PMID:16505055 PMID:17724218 PMID:21153841 PMID:23035049 PMID:25741868 More...

NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067

G

RNA polymerase III subunit A

ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-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:16199547 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 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: POLR3-related leukodystrophy

PMID:22855961 PMID:25741868 PMID:27029625

NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279

G

transforming growth factor, beta receptor 2

ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM

PMID:25326637 PMID:25741868 PMID:28492532

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

G

thymidine phosphorylase

ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

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

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

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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

dysbindin domain containing 1

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444

G

differentially expressed in FDCP 8 homolog

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638

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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246

G

growth arrest specific 8

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305

G

interleukin 17C

ClinVar Annotator: match by term: KBG syndrome

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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
Ensembl chr16:49,665,791...49,677,690

G

melanocortin 1 receptor

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192

G

mevalonate diphosphate decarboxylase

ClinVar Annotator: match by term: KBG syndrome

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

spire-type actin nucleation factor 2

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920

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

transcription factor 25

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723

G

trafficking protein particle complex subunit 2L

ClinVar Annotator: match by term: KBG syndrome

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:25741868 More...

NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192

G

tubulin, beta 3 class III

ClinVar Annotator: match by term: KBG syndrome

PMID:28492532 PMID:31602316

NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

NCBI chr19:50,282,337...50,324,010

G

zinc finger protein, multitype 1

ClinVar Annotator: match by term: KBG syndrome

PMID:21782149 PMID:25125236 PMID:25413698 PMID:25652421 PMID:28492532 More...

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

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

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:226750
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

PMID:16501574 PMID:28483234 PMID:28492532 PMID:32715658

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

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

PMID:25741868 PMID:28492532

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

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

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

NCBI chr X:33,401,122...33,465,427

G

cyclin-dependent kinase-like 5

ClinVar Annotator: match by term: Nance-Horan syndrome

PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

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:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More...

NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747

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

G

zinc finger protein 57

ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth

PMID:18622393 PMID:25741868 PMID:30315371 PMID:32623794 PMID:36029130

NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846

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-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

Ets2 repressor factor

ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder

PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 More...

NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388

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

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta

ClinVar Annotator: match by term: Noonan-like disorder

PMID:25741868 PMID:31024343

NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668

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-like syndrome 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: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME
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
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

PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078