|
rs1064797235
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
|
22584950 |
2012 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.
|
26136767 |
2015 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
|
22508347 |
2012 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.
|
23278385 |
2013 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.
|
23521069 |
2014 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
|
23857908 |
2013 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
|
22704260 |
2012 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Behr syndrome with homozygous C19ORF12 mutation.
|
26187298 |
2015 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
|
25592411 |
2015 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
|
23269600 |
2013 |
|
rs1204865094
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
|
21981780 |
2011 |
|
rs1264612218
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs1352744778
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
|
22584950 |
2012 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
|
23857908 |
2013 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.
|
26136767 |
2015 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
|
25592411 |
2015 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
|
22704260 |
2012 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.
|
23278385 |
2013 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
|
21981780 |
2011 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
Behr syndrome with homozygous C19ORF12 mutation.
|
26187298 |
2015 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
|
22508347 |
2012 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.
|
23521069 |
2014 |
|
rs1358503478
|
C19orf12
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
|
0.700 |
GeneticVariation |
UNIPROT |
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
|
23269600 |
2013 |