DisGeNET - a database of gene-disease associations

Source: CLINVAR

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:	55823
Gene Symbol:	VPS11

VPS11

VPS11 core subunit of CORVET and HOPS complexes

0.633

0.654

1.9E-05

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

phenotype

0.100

None