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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
BICD2-RELATED AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY BICD2 Unknown Orphanet
DYNC1H1-RELATED AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY DYNC1H1 Unknown Orphanet
SPINAL MUSCULAR ATROPHIES OF CHILDHOOD DYNC1H1 Unknown — CTD, Disgenet
SMN1 Unknown CTD, Disgenet
SMN2 Unknown — CTD
SPINAL MUSCULAR ATROPHY ANKRD1 Unknown — Disgenet
AR Unknown — Disgenet
ARHGEF10 Unknown — Disgenet
DPP6 Unknown — Disgenet —
GEMIN2 Unknown — ClinVar
HEXB Unknown — Disgenet
SMN2 Unknown — Disgenet
SMNDC1 Unknown — ClinVar
TLL2 Unknown — Disgenet
TRPV4 Unknown — Disgenet
VAPB Unknown — Disgenet
SPINAL MUSCULAR ATROPHY 4 SMN1 Unknown — CTD
SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY ASAH1 Unknown — CTD, HPO
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 IGHMBP2 Unknown — CTD, Disgenet —
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 IGHMBP2 Unknown Orphanet —
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 2 LAS1L Unknown GWAS catalog, Orphanet, Disgenet
SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT BICD2 Unknown — Disgenet
DYNC1H1 Unknown — Disgenet
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 PLEKHG5 Unknown — CTD, Disgenet
TNFRSF25 Unknown — Disgenet
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE TRPV4 Unknown CTD, Disgenet
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 ATP7A Unknown — CTD, Disgenet
SPINAL MUSCULAR ATROPHY, INFANTILE NAIP Unknown — Disgenet
SMN1 Unknown — Disgenet
SMN2 Unknown — Disgenet
SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE FHOD3 Unknown — Disgenet —
SPINAL MUSCULAR ATROPHY, JERASH TYPE DNAJB2 Unknown — Disgenet
FBXO38 Unknown — Disgenet —
HSPB1 Unknown — Disgenet
HSPB3 Unknown — Disgenet —
HSPB8 Unknown — Disgenet
SIGMAR1 Unknown — CTD, Disgenet
SPINAL MUSCULAR ATROPHY, JOKELA TYPE CHCHD10 Unknown — CTD, Disgenet, HPO
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE KIF1B Unknown — Disgenet
VAPB Unknown — CTD, Disgenet, HPO
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT DYNC1H1 Unknown — HPO
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT BICD2 Unknown — HPO
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT ND6 Unknown — Disgenet
SPINAL MUSCULAR ATROPHY, TYPE 1 SMN1 Unknown — GenCC
SPINAL MUSCULAR ATROPHY, TYPE I SMN1 Unknown — HPO
SPINAL MUSCULAR ATROPHY, TYPE III SMN1 Unknown — GenCC, HPO
SMN2 Unknown — GenCC
SPINAL MUSCULAR ATROPHY, TYPE IV SMN2 Unknown — Disgenet
SPINAL MUSCULAR ATROPHY, X-LINKED 2 UBA1 Unknown — HPO
All37 Causal12 Unknown32