DisGeNET - a database of gene-disease associations

VPS11, VPS11 core subunit of CORVET and HOPS complexes, 55823

N. diseases: 79; N. variants: 6

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C1842364
Disease:

Central hypotonia

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C1839630
Disease:

Severe muscular hypotonia

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C0344482
Disease:

Hypoplasia of corpus callosum

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C0038379
Disease:

Strabismus

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C0011168
Disease:

Deglutition Disorders

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C4551563
Disease:

Microcephaly (physical finding)

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C0009952
Disease:

Febrile Convulsions

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C1384666
Disease:

hearing impairment

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs34757931

rs34757931

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

CUI:	C1298820
Disease:

Aneurysm of aortic root

G

0.700

CausalMutation

CLINVAR