DDHD2, DDHD domain containing 2, 23259

N. diseases: 37; N. variants: 11
Disease: Epilepsy, Generalized ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.100 CausalMutation disease CLINVAR Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. 24337409 2014
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.100 CausalMutation disease CLINVAR Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. 25417924 2014
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.100 CausalMutation disease CLINVAR Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum. 24517879 2014
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.100 CausalMutation disease CLINVAR Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. 23176823 2012