DisGeNET - a database of gene-disease associations

ALMS1, ALMS1 centrosome and basal body associated protein, 7840

N. diseases: 147; N. variants: 195

Disease: Cardiomyopathy, Dilated ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.400

Biomarker

group

CTD_human

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

22447358

2013

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.400

Biomarker

group

HPO