AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810295
Disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing in patients with white matter abnormalities. 27159321 2016
CUI: C3810295
Disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE 		0.600 GermlineCausalMutation disease ORPHANET Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3810295
Disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease CTD_human