SLC33A1, solute carrier family 33 member 1, 9197

N. diseases: 170; N. variants: 7
Disease: Spastic Paraplegia 42, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 Biomarker disease GENOMICS_ENGLAND Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. 25402622 2015
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 GeneticVariation disease UNIPROT Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. 25402622 2015
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 GeneticVariation disease UNIPROT A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). 19061983 2008
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 GermlineCausalMutation disease ORPHANET A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). 19061983 2008
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 GeneticVariation disease BEFREE A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). 19061983 2008
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 CausalMutation disease CLINVAR
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 Biomarker disease CTD_human
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 Biomarker disease GENOMICS_ENGLAND