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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
FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS
PHEX Causal — ClinVar —
All6 Causal4 Unknown5