Childhood-onset spinal muscular atrophy

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT CHILDHOOD-ONSET LOWER EXTREMITY-PREDOMINANT SPINAL MUSCULAR ATROPHY-2A
C4747715
BICD2 Unknown — Disgenet
AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITH CONTRACTURES
MONDO:0014121
BICD2 Causal
23664120
ClinVar Disgenet
AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITHOUT CONTRACTURES
MONDO:0008026
DYNC1H1 Causal
22459677 30122514 29306600 28554554 28193117 27066557 25609763 25484024 24307404 22847149 26846447 30246859 32947049 34368388 35606327 35899263 36720598 36882741 37395972
ClinVar GWAS catalog