DisGeNET - a database of gene-disease associations

ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION, C3151619

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:

rs1567721108

rs1567721108

KIF1C ; INCA1

1

1.000

17

5003917

splice donor variant

G/A

snv

0.700

dbSNP:

rs61755320

rs61755320

SPG7

41

0.716

0.520

16

89546737

missense variant

C/T

snv

2.9E-03

3.5E-03

0.700

dbSNP:

rs886039904

rs886039904

GJC2

6

0.851

0.200

1

228157836

frameshift variant

G/-

del

0.700