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 _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:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10749
Gene Symbol:	KIF1C

KIF1C

0.100

Biomarker

phenotype

HPO

Entrez Id:	9197
Gene Symbol:	SLC33A1

SLC33A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9215
Gene Symbol:	LARGE1

LARGE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2705
Gene Symbol:	GJB1

GJB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	22943
Gene Symbol:	DKK1

DKK1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

0.100

Biomarker

phenotype

HPO

Entrez Id:	339855
Gene Symbol:	KY

KY

0.100

Biomarker

phenotype

HPO

Entrez Id:	113612
Gene Symbol:	CYP2U1

CYP2U1

0.100

Biomarker

phenotype

HPO

Entrez Id:	85465
Gene Symbol:	SELENOI

SELENOI

0.100

Biomarker

phenotype

HPO

Entrez Id:	2643
Gene Symbol:	GCH1

GCH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55154
Gene Symbol:	MSTO1

MSTO1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	8242
Gene Symbol:	KDM5C

KDM5C

0.100

Biomarker

phenotype

HPO

Entrez Id:	8622
Gene Symbol:	PDE8B

PDE8B

0.100

Biomarker

phenotype

HPO

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	9101
Gene Symbol:	USP8

USP8

0.100

Biomarker

phenotype

HPO

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

0.100

Biomarker

phenotype

HPO

Entrez Id:	7415
Gene Symbol:	VCP

VCP

0.100

Biomarker

phenotype

HPO

Entrez Id:	123606
Gene Symbol:	NIPA1

NIPA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10667
Gene Symbol:	FARS2

FARS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3475
Gene Symbol:	IFRD1

IFRD1

0.100

Biomarker

phenotype

HPO