DisGeNET - a database of gene-disease associations

HMGCLL1, 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1, 54511

N. diseases: 2; N. variants: 2

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:

rs3925003

Entrez Id:	54511
Gene Symbol:	HMGCLL1

HMGCLL1

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

dbSNP:

rs11754509

Entrez Id:	54511
Gene Symbol:	HMGCLL1

HMGCLL1

CUI:	C0162701
Disease:

Polysomnography

0.700

GeneticVariation

GWASDB

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

23251661

2012