Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		A 0.810 CausalMutation CLINVAR The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN. 28347615 2017
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation BEFREE Genetic testing revealed a homozygous p.T11M mutation in the C19orf12 gene consistent with mitochondrial membrane protein-associated neurodegeneration. 27801611 2016
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 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: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT Behr syndrome with homozygous C19ORF12 mutation. 26187298 2015
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		A 0.810 CausalMutation CLINVAR Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. 23521069 2014
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		A 0.810 CausalMutation CLINVAR Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. 23278385 2013
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. 23278385 2013
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		A 0.810 CausalMutation CLINVAR Mitochondrial membrane protein-associated neurodegeneration (MPAN). 24209434 2013
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		A 0.810 CausalMutation CLINVAR PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. 23166001 2013
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		A 0.810 CausalMutation CLINVAR Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. 23436634 2013
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 23269600 2013
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. 23857908 2013
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation. 22704260 2012
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. 22584950 2012
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		A 0.810 CausalMutation CLINVAR C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. 22584950 2012
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. 22508347 2012
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.810 GeneticVariation UNIPROT Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. 21981780 2011
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		A 0.810 CausalMutation CLINVAR Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. 21981780 2011
dbSNP: rs515726205
rs515726205
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		T 0.800 GeneticVariation CLINVAR Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs752450983
rs752450983
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.800 GeneticVariation UNIPROT Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs752450983
rs752450983
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.800 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: rs752450983
rs752450983
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.800 GeneticVariation UNIPROT Behr syndrome with homozygous C19ORF12 mutation. 26187298 2015
dbSNP: rs752450983
rs752450983
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		0.800 GeneticVariation UNIPROT A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. 23521069 2014