DisGeNET - a database of gene-disease associations

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1, C4551552

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:

rs1563764078

rs1563764078

VLDLR

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs397514750

rs397514750

VLDLR

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs398122380

rs398122380

VLDLR

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs80338905

rs80338905

VLDLR

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs80338906

rs80338906

VLDLR

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs80338907

rs80338907

VLDLR

T

0.700

CausalMutation

CLINVAR