DisGeNET - a database of gene-disease associations

rs753829320, MFF

N. diseases: 2

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.

ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2

CUI:	C4310726
Disease:	ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2

5

1.000

2

227355756

stop gained

C/T

snv

0.700

Mitochondrial Diseases

CUI:	C0751651
Disease:	Mitochondrial Diseases

84

1.000

2

227355756

stop gained

C/T

snv

0.010

1.000

2018

2018