Spastic Paraplegia 42, Autosomal Dominant
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
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 |
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 |
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 |
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 |
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 |
Spastic Paraplegia 42, Autosomal Dominant
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Spastic Paraplegia 42, Autosomal Dominant
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spastic Paraplegia 42, Autosomal Dominant
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
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 |
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 |
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 |
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 |
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 |
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
Cataract
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
hearing impairment
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
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 |
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 |
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 |