DisGeNET - a database of gene-disease associations

Gene: PRDM16 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	63976
Gene Symbol:	PRDM16

PRDM16

CUI:	C1960469
Disease:	Left ventricular noncompaction

Left ventricular noncompaction

0.410

GermlineCausalMutation

ORPHANET

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

2013