Disease Term Disease ID Gene Symbol Classification References Source
Motor Neuron Disease C0085084 NEK1 Causal Pathogenic evidence from ClinVar 28089114 ClinVar
OPTN Causal Pathogenic evidence from ClinVar 28089114 ClinVar
SOD1 Causal Pathogenic evidence from ClinVar 16702190, 28089114 ClinVar
TARDBP Causal Pathogenic evidence from ClinVar 28089114 ClinVar
PNPLA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18313024, 20603202 -
PRDX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16702190 -
TBK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28089114 -
VIM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16831193 -
Familial Motor Neuron Disease C0270763 SOD1 Causal Pathogenic evidence from ClinVar 16702190 ClinVar
PNPLA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18313024, 20603202 -
PRDX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16702190 -
VIM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16831193 -
Motor Neuron Disease, Lower C0270764 SOD1 Causal Pathogenic evidence from ClinVar 16702190 ClinVar
PNPLA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18313024, 20603202 -
PRDX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16702190 -
VIM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16831193 -
Motor Neuron Disease, Secondary C0543858 SOD1 Causal Pathogenic evidence from ClinVar 16702190 ClinVar
PNPLA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18313024, 20603202 -
PRDX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16702190 -
VIM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16831193 -
Motor Neuron Disease, Upper C0521659 SOD1 Causal Pathogenic evidence from ClinVar 16702190 ClinVar
PNPLA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18313024, 20603202 -
PRDX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16702190 -
VIM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16831193 -