Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779388
rs587779388
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
C 0.700 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012

dbSNP: rs587779388
rs587779388
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
C 0.700 CausalMutation CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262

2011

dbSNP: rs587779388
rs587779388
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
C 0.700 CausalMutation CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353

2011