DDHD1, DDHD domain containing 1, 80821

N. diseases: 38; N. variants: 0
Disease: Spastic paraplegia type 5A, recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		0.020 GeneticVariation disease BEFREE A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia. 27216551 2016
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		0.020 Biomarker disease BEFREE Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). 15786464 2005