DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormality of cardiovascular system morphology ×

Results per page

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:	3708
Gene Symbol:	ITPR1

ITPR1

inositol 1,4,5-trisphosphate receptor type 1

0.534

0.846

1.00

CUI:	C4049796
Disease:	Abnormality of cardiovascular system morphology

Abnormality of cardiovascular system morphology

disease

0.100

None