DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Gene: NPC1 ×

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:	4864
Gene Symbol:	NPC1

NPC1

NPC intracellular cholesterol transporter 1

0.518

0.692

6.5E-06

CUI:	C3179455
Disease:	Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C1

disease

1.000

strong

0.994

0

1988

2020

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

NPC intracellular cholesterol transporter 1

0.518

0.692

6.5E-06

CUI:	C0220756
Disease:	Niemann-Pick Disease, Type C

Niemann-Pick Disease, Type C

disease

0.900

strong

0.994

0

1997

2019

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

NPC intracellular cholesterol transporter 1

0.518

0.692

6.5E-06

CUI:	C0268247
Disease:	Niemann-Pick Disease, Type D

Niemann-Pick Disease, Type D

disease

0.810

moderate

1.000

0

1998

2017