AP4B1-AS1, AP4B1 antisense RNA 1, 100287722

N. diseases: 13; N. variants: 38
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 24781758 2015
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197 2012
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease 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
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353 2011
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR