Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 GeneticVariation disease BEFREE Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). 31525725 2019
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease GENOMICS_ENGLAND A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171 2013
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease GENOMICS_ENGLAND Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. 20972249 2011
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease CTD_human
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 GeneticVariation disease CLINVAR