SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Disease: SPINAL MUSCULAR ATROPHY, TYPE IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838230
Disease: SPINAL MUSCULAR ATROPHY, TYPE IV
SPINAL MUSCULAR ATROPHY, TYPE IV 		0.400 CausalMutation disease CLINVAR A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. 21542063 2011
CUI: C1838230
Disease: SPINAL MUSCULAR ATROPHY, TYPE IV
SPINAL MUSCULAR ATROPHY, TYPE IV 		0.400 Biomarker disease GENOMICS_ENGLAND Spinal muscular atrophy genetic testing experience at an academic medical center. 11826188 2002
CUI: C1838230
Disease: SPINAL MUSCULAR ATROPHY, TYPE IV
SPINAL MUSCULAR ATROPHY, TYPE IV 		0.400 Biomarker disease GENOMICS_ENGLAND Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. 8787675 1996
CUI: C1838230
Disease: SPINAL MUSCULAR ATROPHY, TYPE IV
SPINAL MUSCULAR ATROPHY, TYPE IV 		0.400 Biomarker disease GENOMICS_ENGLAND Identification and characterization of a spinal muscular atrophy-determining gene. 7813012 1995