DisGeNET - a database of gene-disease associations

Loss of ability to walk, C1849097

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:	80208
Gene Symbol:	SPG11

SPG11

0.100

CausalMutation

phenotype

CLINVAR

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

2009

Entrez Id:	84668
Gene Symbol:	FAM126A

FAM126A

0.100

Biomarker

phenotype

HPO

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

0.100

Biomarker

phenotype

HPO

Entrez Id:	154881
Gene Symbol:	KCTD7

KCTD7

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	9757
Gene Symbol:	KMT2B

KMT2B

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23636
Gene Symbol:	NUP62

NUP62

0.100

Biomarker

phenotype

HPO

Entrez Id:	55958
Gene Symbol:	KLHL9

KLHL9

0.100

Biomarker

phenotype

HPO

Entrez Id:	5339
Gene Symbol:	PLEC

PLEC

0.100

Biomarker

phenotype

HPO

Entrez Id:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

0.100

Biomarker

phenotype

HPO

Entrez Id:	2066
Gene Symbol:	ERBB4

ERBB4

0.100

Biomarker

phenotype

HPO

Entrez Id:	8291
Gene Symbol:	DYSF

DYSF

0.100

Biomarker

phenotype

HPO

Entrez Id:	10049
Gene Symbol:	DNAJB6

DNAJB6

0.100

Biomarker

phenotype

HPO

Entrez Id:	644096
Gene Symbol:	SDHAF1

SDHAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1384
Gene Symbol:	CRAT

CRAT

0.100

Biomarker

phenotype

HPO

Entrez Id:	79152
Gene Symbol:	FA2H

FA2H

0.100

Biomarker

phenotype

HPO

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

0.100

Biomarker

phenotype

HPO

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

0.100

Biomarker

phenotype

HPO

Entrez Id:	10585
Gene Symbol:	POMT1

POMT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	11149
Gene Symbol:	BVES

BVES

0.100

Biomarker

phenotype

HPO

Entrez Id:	79147
Gene Symbol:	FKRP

FKRP

0.100

Biomarker

phenotype

HPO

Entrez Id:	9215
Gene Symbol:	LARGE1

LARGE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6389
Gene Symbol:	SDHA

SDHA

0.100

Biomarker

phenotype

HPO

Entrez Id:	55697
Gene Symbol:	VAC14

VAC14

0.100

Biomarker

phenotype

HPO