Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease GENOMICS_ENGLAND
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 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 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 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016