DisGeNET - a database of gene-disease associations

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1956346
Disease:	Coronary Artery Disease

Coronary Artery Disease

0.010

GeneticVariation

disease

BEFREE

In the gene PDE3B, pLOF variants associate with elevated height, improved body fat distribution and protection from coronary artery disease.

2018