DisGeNET - a database of gene-disease associations

Impaired vibration sensation in the lower limbs, C1849134

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:

rs1557055405

rs1557055405

ABCD1

A

0.700

GeneticVariation

CLINVAR

First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

1998

dbSNP:

rs142433332

rs142433332

DARS2

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1445287184

rs1445287184

PTPRQ ; LOC105369867

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553201258

rs1553201258

DARS2

C

0.700

CausalMutation

CLINVAR