Spinal muscular atrophy

Disease Term Disease ID Gene Symbol Classification References Source
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy 363454 BICD2 Causal Pathogenic evidence from ClinVar - ClinVar
Spinal Muscular Atrophy C0026847 BICD2 Causal Pathogenic evidence from ClinVar - ClinVar
DYNC1H1 Causal Pathogenic evidence from ClinVar - ClinVar
IGHMBP2 Causal Pathogenic evidence from ClinVar - ClinVar
SMN1 Causal Pathogenic evidence from ClinVar 10679938, 11839954, 15862279, 18155522, 18572081, 19050931, 19150990, 20442745, 21350916, 21819082, 26606804, 27111068 ClinVar
VRK1 Causal Pathogenic evidence from ClinVar - ClinVar
ASAH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ASCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28749478 -
ATAD3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27640307 -
ATP7A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHCHD10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CNTNAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DNAJB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYSF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EXOSC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FBXO38 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNK9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PLEKHG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SIGMAR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10679938, 11839954, 18155522, 18572081, 19050931, 20442745, 21350916, 26606804 -
TBCE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT C4749003 BICD2 Causal Pathogenic evidence from ClinVar 27751653, 28635954, 30054298 ClinVar
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy 209341 DYNC1H1 Causal Pathogenic evidence from ClinVar - ClinVar
Juvenile Spinal Muscular Atrophy C0152109 DYNC1H1 Causal Pathogenic evidence from ClinVar - ClinVar
SMN1 Causal Pathogenic evidence from ClinVar 7813012, 8787675, 9158159, 9837824, 10732817, 11826188, 14715275, 17924536 ClinVar
NAIP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11912351 -
SMN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9158159, 9837824, 19716110 -
Muscular atrophy, spinal, infantile chronic form C2931358 DYNC1H1 Causal Pathogenic evidence from ClinVar - ClinVar
SMN1 Causal Pathogenic evidence from ClinVar 17924536 ClinVar
NAIP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11912351 -
SMN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Muscular Atrophy, Spinal, Type II C0393538 DYNC1H1 Causal Pathogenic evidence from ClinVar - ClinVar
SMN1 Causal Pathogenic evidence from ClinVar 7813012, 8787675, 9158159, 9837824, 10732802, 11826188, 14715275, 17924536, 21088113, 24498607 ClinVar
NAIP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11912351 -
SMN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24498607 -
Spinal Muscular Atrophies of Childhood C0700595 DYNC1H1 Causal Pathogenic evidence from ClinVar - ClinVar
SMN1 Causal Pathogenic evidence from ClinVar 17924536 ClinVar
SMN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant C1834690 DYNC1H1 Causal Pathogenic evidence from ClinVar 22459677, 22847149, 23603762, 25484024, 25512093, 26392352, 26846447, 28193117, 28554554 ClinVar
Spinal muscular atrophy 4 C2931844 SMN1 Causal Pathogenic evidence from ClinVar - ClinVar
SPINAL MUSCULAR ATROPHY, TYPE IV C1838230 SMN1 Causal Pathogenic evidence from ClinVar 7813012, 8787675, 11826188, 21542063 ClinVar
SMN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21542063 -
SPINAL MUSCULAR ATROPHY, JOKELA TYPE C3554398 CHCHD10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25113787, 25193783, 25261972, 25428574, 25681414, 25833818, 26152333, 28585542, 29121267, 29315381, 29789341 -
Spinal muscular atrophy, Jerash type C1854023 FBXO38 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24207122 -
HSPB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15122254 -
HSPB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20142617 -
HSPB8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15122253 -
SIGMAR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26078401, 27629094 -
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 C1970211 PLEKHG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17564964, 23777631 -