DisGeNET - a database of gene-disease associations

Leber plus disease, C4304725

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

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1555830705

rs1555830705

NDUFAF5

1

1.000

0.160

20

13788615

missense variant

G/A

snv

0.700

dbSNP:

rs778575439

rs778575439

NDUFAF5

1

1.000

0.160

20

13817195

frameshift variant

-/A

delins

4.0E-06

2.1E-05

0.700