DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Frequent falls ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	26353
Gene Symbol:	HSPB8

HSPB8

CUI:	C0850703
Disease:	Frequent falls

Frequent falls

0.100

GeneticVariation

CLINVAR

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

29029362

2018

Entrez Id:	26353
Gene Symbol:	HSPB8

HSPB8

CUI:	C0850703
Disease:	Frequent falls

Frequent falls

0.100

GeneticVariation

CLINVAR

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

28501893

2017

Entrez Id:	26353
Gene Symbol:	HSPB8

HSPB8

CUI:	C0850703
Disease:	Frequent falls

Frequent falls

0.100

GeneticVariation

CLINVAR

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

26976520

2016

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

CUI:	C0850703
Disease:	Frequent falls

Frequent falls

0.100

GeneticVariation

CLINVAR

Entrez Id:	1756
Gene Symbol:	DMD

DMD

CUI:	C0850703
Disease:	Frequent falls

Frequent falls

0.100

GeneticVariation

CLINVAR