DisGeNET - a database of gene-disease associations

Gene: DYNC1H1 ×

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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:	1778
Gene Symbol:	DYNC1H1

DYNC1H1

CUI:	C0011195
Disease:	Dejerine-Sottas Disease (disorder)

Dejerine-Sottas Disease (disorder)

0.200

Biomarker

MGD

A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.

2018