DisGeNET - a database of gene-disease associations

Lower limb spasticity, C1271100

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:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	57679
Gene Symbol:	ALS2

ALS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9907
Gene Symbol:	AP5Z1

AP5Z1

0.100

Biomarker

phenotype

HPO

Entrez Id:	170302
Gene Symbol:	ARX

ARX

0.100

Biomarker

phenotype

HPO

Entrez Id:	51062
Gene Symbol:	ATL1

ATL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	25814
Gene Symbol:	ATXN10

ATXN10

0.100

Biomarker

phenotype

HPO

Entrez Id:	2583
Gene Symbol:	B4GALNT1

B4GALNT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	26580
Gene Symbol:	BSCL2

BSCL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	823
Gene Symbol:	CAPN1

CAPN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1183
Gene Symbol:	CLCN4

CLCN4

0.100

Biomarker

phenotype

HPO

Entrez Id:	9420
Gene Symbol:	CYP7B1

CYP7B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1615
Gene Symbol:	DARS1

DARS1

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.

2015

Entrez Id:	80821
Gene Symbol:	DDHD1

DDHD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	131118
Gene Symbol:	DNAJC19

DNAJC19

0.100

Biomarker

phenotype

HPO

Entrez Id:	10613
Gene Symbol:	ERLIN1

ERLIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79152
Gene Symbol:	FA2H

FA2H

0.100

Biomarker

phenotype

HPO

Entrez Id:	25793
Gene Symbol:	FBXO7

FBXO7

0.100

Biomarker

phenotype

HPO

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

0.100

Biomarker

phenotype

HPO

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	57165
Gene Symbol:	GJC2

GJC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	57531
Gene Symbol:	HACE1

HACE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3329
Gene Symbol:	HSPD1

HSPD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	3798
Gene Symbol:	KIF5A

KIF5A

0.100

Biomarker

phenotype

HPO

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

0.100

Biomarker

phenotype

HPO