Distal spinal muscular atrophy

Disease Term Disease ID Gene Symbol Classification References Source
Distal Spinal Muscular Atrophy C0393541 IGHMBP2 Causal Pathogenic evidence from ClinVar 14506069, 24388491 ClinVar
TRPV4 Causal Pathogenic evidence from ClinVar 22187434 ClinVar
PLEKHG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17564964 -
SMN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15862279, 19150990, 21350916, 21819082, 27111068 -
SMN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21350916 -
TDRKH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -