DisGeNET - a database of gene-disease associations

rs886041715, GNAO1;DKFZP434H168;LOC283856

N. diseases: 7

Disease: Neonatal encephalopathy ×

Source: ALL

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Neonatal encephalopathy

CUI:	C0235820
Disease:	Neonatal encephalopathy

10

0.827

0.040

16

56192353

missense variant

G/A;C;T

snv

0.010

1.000

2018

2018