DisGeNET - a database of gene-disease associations

Source: ALL

Disease: (Idiopathic) normal pressure hydrocephalus ×

Gene: C9orf72 ×

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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:	203228
Gene Symbol:	C9orf72

C9orf72

C9orf72-SMCR8 complex subunit

0.496

0.769

1.1E-06

CUI:	C2047886
Disease:	(Idiopathic) normal pressure hydrocephalus

(Idiopathic) normal pressure hydrocephalus

disease

0.010

None

1.000

0

2019

2019