Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
0.250 GeneticVariation disease BEFREE Recessive mutations in DDHD2 cause SPG54, a complex hereditary spastic paraplegia (HSP) with less than forty patients reported worldwide. 31302745 2019
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
0.250 GeneticVariation disease BEFREE Reactive oxygen species production in DDHD2 knockout cells was reversed by the expression of wild-type DDHD2, but not by an active-site DDHD2 mutant, DDHD2 mutants related to hereditary spastic paraplegia, or DDHD1, another member of the intracellular phospholipase A<sub>1</sub> family whose mutation also causes spastic paraplegia (SPG28). 30038238 2018
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
0.250 Biomarker disease BEFREE Deleterious mutations in the serine lipase DDHD2 are a causative basis of complex hereditary spastic paraplegia (HSP, subtype SPG54) in humans. 29278326 2018
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
0.250 Biomarker disease MGD The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase. 25267624 2014
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
0.250 AlteredExpression disease BEFREE The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase. 25267624 2014
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
0.250 GeneticVariation disease BEFREE We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellular phospholipases A(1) (iPLA(1)). 23176823 2012