Cerebral cavernous malformation
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CEREBRAL CAVERNOUS MALFORMATION | CCM2 | Causal | — | ClinVar | ||
| KRIT1 | Causal | — | ClinVar | |||
| PDCD10 | Causal | — | ClinVar | |||
| CEREBRAL CAVERNOUS MALFORMATION 1 | KRIT1 | Causal | — | ClinVar, GenCC | ||
| cerebral cavernous malformation 2 | CCM2 | Causal | ClinGen, ClinVar, GWAS catalog | |||
| CEREBRAL CAVERNOUS MALFORMATION 3 | PDCD10 | Causal | ClinGen, ClinVar | |||
| CEREBRAL CAVERNOUS MALFORMATION 4 | PIK3CA | Unknown | — | ClinVar | ||
| CEREBRAL CAVERNOUS MALFORMATIONS | KRIT1 | Unknown | — | HPO | ||
| CEREBRAL CAVERNOUS MALFORMATIONS 1 | KRIT1 | Unknown | — | Disgenet | ||
| PDCD10 | Unknown | — | Disgenet | |||
| CEREBRAL CAVERNOUS MALFORMATIONS 2 | CCM2 | Unknown | — | CTD, Disgenet, HPO | ||
| CEREBRAL CAVERNOUS MALFORMATIONS 3 | PDCD10 | Unknown | — | CTD, Disgenet, HPO | ||
| CEREBRAL CAVERNOUS MALFORMATIONS 4 | PIK3CA | Unknown | — | Disgenet, HPO | ||
| CEREBRAL CAVERNOUS MALFORMATIONS 5 | MAP3K3 | Unknown | — | ClinVar, HPO | ||
| FAMILIAL CEREBRAL CAVERNOUS MALFORMATION | CCM2 | Unknown | Orphanet | |||
| KRIT1 | Unknown | Orphanet | ||||
| PDCD10 | Unknown | Orphanet | ||||
| PIK3CA | Unknown | Orphanet | ||||
| FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS |
|
PHEX | Causal | — | ClinVar | — |
| FAMILILAL CEREBRAL CAVERNOUS MALFORMATIONS | CCM2 | Unknown | GWAS catalog | |||
| KRIT1 | Unknown | GWAS catalog | ||||
| PDCD10 | Unknown | GWAS catalog |