SNURF, SNRPN upstream reading frame, 8926

N. diseases: 63; N. variants: 1
Disease: Heredodegenerative Disorders, Nervous System ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751870
Disease: Heredodegenerative Disorders, Nervous System
Heredodegenerative Disorders, Nervous System 		0.010 GeneticVariation group BEFREE Spinal Muscular Atrophy (SMA), a recessive hereditary neurodegenerative disease in humans, has been linked to mutations in the survival motor neuron (SMN) gene. 18791638 2008