DisGeNET - a database of gene-disease associations

CHCHD3, coiled-coil-helix-coiled-coil-helix domain containing 3, 54927

N. diseases: 13; N. variants: 3

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs13233438

Entrez Id:	54927
Gene Symbol:	CHCHD3

CHCHD3

CUI:	C1314691
Disease:

Age at menarche

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6467447

Entrez Id:	54927
Gene Symbol:	CHCHD3

CHCHD3

CUI:	C0202194
Disease:

Potassium measurement

0.700

GeneticVariation

GWASCAT

GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.

31409800

2019

dbSNP:

rs7806045

Entrez Id:	54927
Gene Symbol:	CHCHD3

CHCHD3

CUI:	C0424574
Disease:

Duration of sleep

0.700

GeneticVariation

GWASCAT

Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

30846698

2019