Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 CausalMutation disease CLINVAR Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. 27858754 2015
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 GeneticVariation disease CLINVAR Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. 27858754 2015
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 GeneticVariation disease CLINVAR Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. 24284555 2014
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 CausalMutation disease CLINVAR Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. 24284555 2014
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 Biomarker disease GENOMICS_ENGLAND Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship. 24424123 2014
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 CausalMutation disease CLINVAR Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 GermlineCausalMutation disease ORPHANET Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 GeneticVariation disease CLINVAR Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 Biomarker disease CTD_human
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease GENOMICS_ENGLAND Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship. 24424123 2014
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.610 GeneticVariation disease BEFREE A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). 23188110 2012
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.610 GermlineCausalMutation disease ORPHANET A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). 23188110 2012
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.610 CausalMutation disease CLINVAR Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.300 Biomarker disease CTD_human Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 Biomarker disease BEFREE Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder. 26187298 2015
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 Biomarker disease BEFREE Our study broadens the phenotypic spectrum of C12orf65 defects and highlights the triad of optic atrophy, axonal neuropathy and spastic paraparesis as its key clinical features. 24424123 2014
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 GeneticVariation disease BEFREE We described a large consanguineous family with neuropathy and optic atrophy carrying a loss of function mutation in the C12orf65 gene. 24198383 2014
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 GeneticVariation disease BEFREE Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. 24284555 2014
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 GeneticVariation disease BEFREE This novel nonsense mutation in C12orf65 could cause AR-HSP with optic atrophy and neuropathy, resulting in a premature stop codon. 23188110 2012
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 Biomarker disease HPO
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.110 Biomarker phenotype BEFREE C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis.We used whole-genome homozygosity mapping as well as exome sequencing and targeted gene sequencing to identify novel C12orf65 disease-causing mutations in seven affected individuals originating from two consanguineous families. 24424123 2014