DisGeNET - a database of gene-disease associations

HPS1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1, 3257

N. diseases: 64; N. variants: 50

Disease: Colitis ×

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:	C0009319
Disease:	Colitis

Colitis

0.110

GeneticVariation

disease

BEFREE

Colitis was found in patients with HPS-1 and HPS-4 genotypes.

2006

CUI:	C0009319
Disease:	Colitis

Colitis

0.110

Biomarker

disease

HPO