DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Niemann-Pick Disease, Type C ×

Variant: rs759075595 ×

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:

rs759075595

NPC1

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

Niemann-Pick Disease, Type C

0.700

CausalMutation

CLINVAR

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

23433426

2013

dbSNP:

rs759075595

NPC1

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

Niemann-Pick Disease, Type C

0.700

CausalMutation

CLINVAR

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.

19223215

2009

dbSNP:

rs759075595

NPC1

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

Niemann-Pick Disease, Type C

0.700

CausalMutation

CLINVAR

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

10480349

1999