Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis. 25693842

2016
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. 25552650

2015
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. 24700674

2014
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Adaptor proteins involved in polarized sorting. 24395635

2014
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171

2013
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia. 23167973

2013
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. 20972249

2011
dbSNP: rs1553259463
rs1553259463
AP4B1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. 19559397

2009