DDHD1, DDHD domain containing 1, 80821

N. diseases: 38; N. variants: 0
Disease: Spastic Paraplegia, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 Biomarker disease BEFREE Deleterious mutations in the serine hydrolase DDHD domain containing 1 (DDHD1) cause the SPG28 subtype of the neurological disease hereditary spastic paraplegia (HSP), which is characterized by axonal neuropathy and gait impairments. 30221923 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 Biomarker disease BEFREE The human PAPLA1 phospholipase family is associated with hereditary spastic paraplegia (HSP), a neurodegenerative syndrome characterized by progressive spasticity and weakness of the lower limbs. 28422159 2017
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 GeneticVariation disease BEFREE Mutations in DDHD1 cause the SPG28 subtype of hereditary spastic paraplegia (HSP). 26944165 2016
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 Biomarker disease GENOMICS_ENGLAND Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). 15786464 2005