Pelizaeus-merzbacher disease

Disease Term Disease ID Gene Symbol Classification References Source
Pelizaeus-Merzbacher-like disease due to GJC2 mutation 280282 GJC2 Causal Pathogenic evidence from ClinVar - ClinVar
Adult Pelizaeus-Merzbacher Disease C0751914 PLP1 Causal Pathogenic evidence from ClinVar 18571143 ClinVar
LMNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Classic Pelizaeus-Merzbacher Disease C0751916 PLP1 Causal Pathogenic evidence from ClinVar 18571143 ClinVar
LMNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pelizaeus-Merzbacher Disease C0205711 PLP1 Causal Pathogenic evidence from ClinVar 1376966, 1384324, 1707231, 1708672, 1715570, 1723945, 2479017, 2480601, 2773936, 3466187, 7531827, 7539213, 7541731, 7573159, 7679906, 7683951, 7684886, 8037216, 8909455, 9008538, 9143933, 9482656, 9633722, 9747038, 9788732, 9894878, 9934976, 10417279, 10425042, 11093273, 11786921, 12910435, 14452137, 15712223, 18571143, 23347225, 23771846, 24357685, 24519770, 25655951, 26633545, 28101371, 29486744 ClinVar
AIMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LMNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POLR3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pelizaeus-Merzbacher disease in female carriers 280229 PLP1 Causal Pathogenic evidence from ClinVar - ClinVar
Pelizaeus-Merzbacher disease, classic form 280219 PLP1 Causal Pathogenic evidence from ClinVar - ClinVar
Pelizaeus-Merzbacher disease, connatal form 280210 PLP1 Causal Pathogenic evidence from ClinVar - ClinVar
Pelizaeus-Merzbacher disease, transitional form 280224 PLP1 Causal Pathogenic evidence from ClinVar - ClinVar
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation 280293 AIMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation 280288 HSPD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -