DisGeNET - a database of gene-disease associations

rs80358232, SCO2;NCAPH2

N. diseases: 1

Source: CLINVAR ×

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.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency

CUI:	C1858424
Disease:	Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency

7

1.000

0.200

22

50523738

missense variant

G/A;T

snv

4.0E-06

0.800