DisGeNET - a database of gene-disease associations

Loss of ability to walk, C1849097

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs312262717

rs312262717

SPG11

C

0.700

CausalMutation

CLINVAR

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

2009

dbSNP:

rs1057518843

rs1057518843

GALC

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1345176461

rs1345176461

IRF2BPL ; LOC107984638

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555454508

rs1555454508

SPG11

ATC

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555727493

rs1555727493

KMT2B

TGGCGGCGGCGGCG

0.700

CausalMutation

CLINVAR

dbSNP:

rs1556425596

rs1556425596

COL6A1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs377274761

rs377274761

GALC

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs387907260

rs387907260

KCTD7

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61750240

rs61750240

MECP2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs61752992

rs61752992

MECP2

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs796052686

rs796052686

KCTD7

A

0.700

GeneticVariation

CLINVAR