SLC33A1, solute carrier family 33 member 1, 9197

N. diseases: 170; N. variants: 7
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 CausalMutation disease CLINVAR
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 Biomarker disease CTD_human
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 GermlineCausalMutation disease ORPHANET Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 CausalMutation disease CLINVAR Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 GeneticVariation disease UNIPROT Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 Biomarker disease CTD_human
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 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: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		0.300 Biomarker disease CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		0.300 Biomarker disease CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		0.300 Biomarker disease CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease BEFREE SLC33A1 is associated with neurodegenerative disorders such as sporadic amyotrophic lateral sclerosis (ALS) and Spastic Paraplegia 42, in the Chinese population. 23506891 2013