Gene: C12orf65 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.610 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.610 Biomarker disease GENOMICS_ENGLAND Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship. 24424123 2014
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.610 GeneticVariation disease BEFREE A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). 23188110 2012
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.610 GermlineCausalMutation disease ORPHANET A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). 23188110 2012
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.610 CausalMutation disease CLINVAR Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.610 Biomarker disease GENOMICS_ENGLAND