DisGeNET - a database of gene-disease associations

PCSK1, proprotein convertase subtilisin/kexin type 1, 5122

N. diseases: 140; N. variants: 16

Disease: Hyperphagia ×

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:	C0020505
Disease:	Hyperphagia

Hyperphagia

0.120

GeneticVariation

phenotype

LHGDN

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

17595246

2007

CUI:	C0020505
Disease:	Hyperphagia

Hyperphagia

0.120

Biomarker

phenotype

LHGDN

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice.

16644867

2006

CUI:	C0020505
Disease:	Hyperphagia

Hyperphagia

0.120

Biomarker

phenotype

HPO