Source: ALL
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: C0270612
Disease:
Leukoencephalopathy
G 0.710 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0454644
Disease:
Delayed speech and language development
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C4225247
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 12
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0006009
Disease:
Borderline intellectual disability
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0005697
Disease:
Neurogenic Urinary Bladder
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1845245
Disease:
Lower limb hypertonia
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0494475
Disease:
Tonic - clonic seizures
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1837397
Disease:
Severe global developmental delay
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1836923
Disease:
Gastrointestinal dysmotility
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C4048268
Disease:
Cortical visual impairment
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0029124
Disease:
Optic Atrophy
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1858120
Disease:
Generalized hypotonia
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1859736
Disease:
Progressive spastic quadriplegia
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0740927
Disease:
Elevated maternal serum alpha-fetoprotein
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C3161330
Disease:
Profound intellectual disabilities
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0013363
Disease:
Dysautonomia
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0013421
Disease:
Dystonia
G 0.700 CausalMutation CLINVAR
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