DisGeNET - a database of gene-disease associations

SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, C3539494

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	137492
Gene Symbol:	VPS37A

VPS37A

Q8NEZ2

VPS37A subunit of ESCRT-I

55

0.656

0.577

6.8E-04

0.700

None

1.000

1

1

2012

2012