DisGeNET - a database of gene-disease associations

Source: ANIMAL_MODELS

Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I ×

Gene: VPS54 ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	51542
Gene Symbol:	VPS54

VPS54

VPS54 subunit of GARP complex

0.769

0.231

1.00

CUI:	C0043116
Disease:	HMN (Hereditary Motor Neuropathy) Proximal Type I

HMN (Hereditary Motor Neuropathy) Proximal Type I

disease

0.200

None

1.000

0

1968

1994