Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. 24337409 2014
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821 2012
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821 2012
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821 2012
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821 2012
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND