DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Malocclusion ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	10847
Gene Symbol:	SRCAP

SRCAP

Snf2 related CREBBP activator protein

0.610

0.731

1.00

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

disease

0.100

None

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

collagen type II alpha 1 chain

0.444

0.846

1.00

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

disease

0.100

None

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

H3.3 histone A

0.559

0.692

0.12

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

disease

0.100

None

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

protein tyrosine phosphatase non-receptor type 11

0.385

0.923

1.00

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

disease

0.100

None

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

transcriptional repressor GATA binding 1

0.537

0.769

1.00

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

disease

0.100

None

Entrez Id:	775
Gene Symbol:	CACNA1C

CACNA1C

calcium voltage-gated channel subunit alpha1 C

0.510

0.846

1.00

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

disease

0.100

None