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 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
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 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: 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 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 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 GENOMICS_ENGLAND
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 Biomarker disease CTD_human
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: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype 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: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype HPO
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.300 Biomarker group 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: 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