Schwannomatosis

Disease Term Disease ID Gene Symbol Classification References Source
Schwannomatosis 93921, C1335929 LZTR1 Causal Pathogenic evidence from ClinVar 24362817 ClinVar
SMARCB1 Causal Pathogenic evidence from ClinVar 17357086, 18285426, 23401320, 24362817 ClinVar
COQ6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24763291 -
NF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23401320 -
SCHWANNOMATOSIS 1 C4048809 LZTR1 Causal Pathogenic evidence from ClinVar 24362817 ClinVar
SMARCB1 Causal Pathogenic evidence from ClinVar 24362817 ClinVar
NF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19880713, 23788249 -
SCHWANNOMATOSIS 2 C3810283 LZTR1 Causal Pathogenic evidence from ClinVar 24362817, 25335493, 25480913, 25795793, 29469822, 30442762, 30442766, 30481304 ClinVar
Schwannomatosis, Plexiform C0751374 AXL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25551830 -
EED Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25119042 -
NF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25119042 -
SUZ12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25119042 -
WT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25474318 -