DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ×

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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	3257
Gene Symbol:	HPS1

HPS1

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

0.636

0.692

1.3E-07

CUI:	C2931875
Disease:	Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

disease

0.940

definitive

1.000

1978

2018