DDHD1, DDHD domain containing 1, 80821

N. diseases: 38; N. variants: 0
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.020 GeneticVariation phenotype BEFREE Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28. 26944165 2016
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.020 GeneticVariation phenotype BEFREE Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations. 24989667 2014