Gene: CYP2U1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1 		0.130 Biomarker disease BEFREE An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. 28725025 2017
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1 		0.130 GeneticVariation disease BEFREE We report three patients in a consanguineous family harboring the novel homozygous c.1168C>T (p.R390*) in SPG56/CYP2U1, and showing a pigmentary degenerative maculopathy associated with progressive spastic paraplegia. 26914923 2016
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1 		0.130 GeneticVariation disease BEFREE CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. 27292318 2016
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1 		0.130 GeneticVariation disease CLINVAR
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1 		0.130 Biomarker disease HPO
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1 		0.130 CausalMutation disease CLINVAR