DisGeNET - a database of gene-disease associations

Lower limb hyperreflexia, C1836696

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:

rs1057518760

rs1057518760

KIF1A

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1085307993

rs1085307993

GABRB2

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1208636573

rs1208636573

MSTO1 ; LOC105371452

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs587778779

rs587778779

CYP27A1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs622288

rs622288

MSTO1 ; LOC105371452

T

0.700

GeneticVariation

CLINVAR