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 _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

0.100

GeneticVariation

phenotype

CLINVAR

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

1998

Entrez Id:	57599
Gene Symbol:	WDR48

WDR48

0.100

Biomarker

phenotype

HPO

Entrez Id:	6843
Gene Symbol:	VAMP1

VAMP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79581
Gene Symbol:	SLC52A2

SLC52A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6683
Gene Symbol:	SPAST

SPAST

0.100

Biomarker

phenotype

HPO

Entrez Id:	3035
Gene Symbol:	HARS1

HARS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5173
Gene Symbol:	PDYN

PDYN

0.100

Biomarker

phenotype

HPO

Entrez Id:	3094
Gene Symbol:	HINT1

HINT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9420
Gene Symbol:	CYP7B1

CYP7B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	26278
Gene Symbol:	SACS

SACS

0.100

Biomarker

phenotype

HPO

Entrez Id:	26580
Gene Symbol:	BSCL2

BSCL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	64837
Gene Symbol:	KLC2

KLC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

0.100

Biomarker

phenotype

HPO

Entrez Id:	55157
Gene Symbol:	DARS2

DARS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	7415
Gene Symbol:	VCP

VCP

0.100

Biomarker

phenotype

HPO

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9997
Gene Symbol:	SCO2

SCO2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6253
Gene Symbol:	RTN2

RTN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	123606
Gene Symbol:	NIPA1

NIPA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

0.100

Biomarker

phenotype

HPO

Entrez Id:	23769
Gene Symbol:	FLRT1

FLRT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	11128
Gene Symbol:	POLR3A

POLR3A

0.100

Biomarker

phenotype

HPO

Entrez Id:	9897
Gene Symbol:	WASHC5

WASHC5

0.100

Biomarker

phenotype

HPO