MAG, myelin associated glycoprotein, 4099

N. diseases: 106; N. variants: 9
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site. 27606346 2016
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. 26179919 2015
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. 26179919 2015
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. 26179919 2015
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. 26179919 2015
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human