Lynch syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 |
|
MLH1 | Causal | — | ClinVar | |
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | TGFBR2 | Causal | — | CTD, ClinVar, HPO | ||
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 | MLH3 | Causal | — | CTD, ClinGen, ClinVar, GenCC, HPO | ||
| HEREDITARY NONPOLYPOSIS COLON CANCER | CHEK2 | Causal | — | ClinGen, GenCC | ||
| LYNCH SYNDROME | MLH1 | Causal | ClinGen, ClinVar, Disgenet, Orphanet | |||
| MSH2 | Causal | ClinGen, ClinVar, Disgenet, Orphanet | ||||
| MSH6 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet | ||||
| PMS2 | Causal | ClinGen, ClinVar, Disgenet, Orphanet | ||||
| LYNCH SYNDROME 1 | MLH1 | Causal | GWAS catalog | |||
| MSH2 | Causal | — | ClinVar, GenCC, HPO | |||
| LYNCH SYNDROME 4 | PMS2 | Causal | CTD, ClinVar, HPO, ClinGen | |||
| LYNCH SYNDROME 5 | MSH6 | Causal | ClinVar, GenCC, HPO, ClinGen | |||
| LYNCH SYNDROME 8 | EPCAM | Causal | — | ClinVar, GenCC, HPO |