DisGeNET - a database of gene-disease associations

rs1131692037, MRPS34;EME2;NME3

N. diseases: 2

Source: ALL

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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.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32

CUI:	C4540029
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32

4

0.925

0.120

16

1773083

stop gained

C/A;T

snv

0.800

1.000

2017

2017

Leigh Disease

CUI:	C0023264
Disease:	Leigh Disease

114

0.925

0.120

16

1773083

stop gained

C/A;T

snv

0.700