Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
0.350 AlteredExpression disease BEFREE CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. 29034544 2018
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
0.350 GeneticVariation disease BEFREE However, its biological roles remain largely unknown, even though CYP2U1 mutations have been involved in some pathological situations, such as complicated forms of hereditary spastic paraplegia. 28083596 2017
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
0.350 GeneticVariation disease BEFREE Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. 26936192 2016
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
0.350 Biomarker disease BEFREE Variants in this gene have been found responsible for a recently described form of hereditary spastic paraplegia called SPG49 in two previous reports. 27406698 2016
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
0.350 GeneticVariation disease BEFREE SPG56 is an autosomal recessive form of hereditary spastic paraplegia (HSP) associated with mutations in CYP2U1. 26914923 2016
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
0.350 Biomarker disease GENOMICS_ENGLAND Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821 2012