LAMA1, laminin subunit alpha 1, 284217

N. diseases: 107; N. variants: 21
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045182
rs797045182
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C4014821
Disease:
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		A 0.700 CausalMutation CLINVAR Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 25105227 2014