Distal hereditary motor neuronopathy

Disease Term Disease ID Gene Symbol Classification References Source
Distal hereditary motor neuropathy type 5 139536 BSCL2 Causal Pathogenic evidence from ClinVar - ClinVar
REEP1 Causal Pathogenic evidence from ClinVar - ClinVar
GART Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Lower motor neuron syndrome with late-adult onset 276435 CHCHD10 Causal Pathogenic evidence from ClinVar - ClinVar
Distal hereditary motor neuropathy type 7 139589, C4749653 DCTN1 Causal Pathogenic evidence from ClinVar 12627231 ClinVar
SLC5A7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23141292 -
Young adult-onset distal hereditary motor neuropathy 314485 DNAJB2 Causal Pathogenic evidence from ClinVar - ClinVar
Distal hereditary motor neuropathy type 2 139525 FBXO38 Causal Pathogenic evidence from ClinVar - ClinVar
HSPB1 Causal Pathogenic evidence from ClinVar - ClinVar
HSPB8 Causal Pathogenic evidence from ClinVar - ClinVar
HSPB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Distal Hereditary Motor Neuropathy, Type II C3711384 FBXO38 Causal Pathogenic evidence from ClinVar 24207122 ClinVar
HSPB1 Causal Pathogenic evidence from ClinVar 15122254 ClinVar
HSPB8 Causal Pathogenic evidence from ClinVar 15122253 ClinVar
HSPB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20142617 -
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA C1834692 HSPB8 Causal Pathogenic evidence from ClinVar 15122253, 23389032, 26718575, 28144995 ClinVar
Autosomal recessive lower motor neuron disease with childhood onset 206580 PLEKHG5 Causal Pathogenic evidence from ClinVar - ClinVar
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY C4693390 TRAPPC6B Causal Pathogenic evidence from ClinVar 1693664, 28397838 ClinVar
Hereditary Motor Neuronopathy C3661519 TRPV4 Causal Pathogenic evidence from ClinVar 22187434 ClinVar
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 -
Distal hereditary motor neuropathy, Jerash type 139552 SIGMAR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -