Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146170087
rs146170087
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0393593
Disease:
Dystonia Disorders 		0.010 GeneticVariation BEFREE We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. 30088953 2018
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0393593
Disease:
Dystonia Disorders 		0.010 GeneticVariation BEFREE We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. 30088953 2018
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0013421
Disease:
Dystonia 		0.010 GeneticVariation BEFREE We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. 30088953 2018
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0029124
Disease:
Optic Atrophy 		0.010 GeneticVariation BEFREE We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes. 30088953 2018
dbSNP: rs376103979
rs376103979
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C2931845
Disease:
Neurodegeneration with brain iron accumulation (NBIA) 		0.010 GeneticVariation BEFREE Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). 23857908 2013
dbSNP: rs200133991
rs200133991
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
dbSNP: rs1204865094
rs1204865094
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1204865094
rs1204865094
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT Behr syndrome with homozygous C19ORF12 mutation. 26187298 2015
dbSNP: rs1204865094
rs1204865094
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1358503478
rs1358503478
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1358503478
rs1358503478
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1358503478
rs1358503478
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT Behr syndrome with homozygous C19ORF12 mutation. 26187298 2015
dbSNP: rs1424999393
rs1424999393
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT Behr syndrome with homozygous C19ORF12 mutation. 26187298 2015
dbSNP: rs1424999393
rs1424999393
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1424999393
rs1424999393
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1204865094
rs1204865094
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1358503478
rs1358503478
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1424999393
rs1424999393
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
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
dbSNP: rs1204865094
rs1204865094
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. 23278385 2013
dbSNP: rs1204865094
rs1204865094
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. 23857908 2013
dbSNP: rs1204865094
rs1204865094
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 23269600 2013
dbSNP: rs1358503478
rs1358503478
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. 23857908 2013
dbSNP: rs1358503478
rs1358503478
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. 23278385 2013
dbSNP: rs1358503478
rs1358503478
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 23269600 2013
dbSNP: rs1424999393
rs1424999393
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.700 GeneticVariation UNIPROT Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. 23278385 2013