Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CEREBRAL CAVERNOUS MALFORMATION	MONDO:0000820	CCM2	Causal	—	ClinVar
		KRIT1	Causal	—	ClinVar
		PDCD10	Causal	—	ClinVar
CEREBRAL CAVERNOUS MALFORMATION 1	MONDO:0020724	KRIT1	Causal	—	ClinVar GenCC
CEREBRAL CAVERNOUS MALFORMATION 2	MONDO:0011304	CCM2	Causal	17211633 17160895	ClinGen ClinVar GWAS catalog
CEREBRAL CAVERNOUS MALFORMATION 3	MONDO:0011305	PDCD10	Causal	15543491 16380626	ClinGen ClinVar
CEREBRAL CAVERNOUS MALFORMATION 4	MONDO:0859192	PIK3CA	Unknown	—	ClinVar
CEREBRAL CAVERNOUS MALFORMATIONS	116860	KRIT1	Unknown	—	HPO
CEREBRAL CAVERNOUS MALFORMATIONS 1	C1366911	KRIT1	Unknown	—	Disgenet
CEREBRAL CAVERNOUS MALFORMATIONS 1	C1366911	PDCD10	Unknown	—	Disgenet
CEREBRAL CAVERNOUS MALFORMATIONS 2	603284 C1864041 MESH:C566394	CCM2	Unknown	—	CTD Disgenet HPO
CEREBRAL CAVERNOUS MALFORMATIONS 3	603285 C1864040 MESH:C566393	PDCD10	Unknown	—	CTD Disgenet HPO
CEREBRAL CAVERNOUS MALFORMATIONS 4	619538 C5561991	PIK3CA	Unknown	—	Disgenet HPO
CEREBRAL CAVERNOUS MALFORMATIONS 5	621032 MONDO:0975952	MAP3K3	Unknown	—	ClinVar HPO
FAMILIAL CEREBRAL CAVERNOUS MALFORMATION	221061	CCM2	Unknown	20301470	Orphanet
		KRIT1	Unknown	20301470	Orphanet
		PDCD10	Unknown	20301470	Orphanet
		PIK3CA	Unknown	34496175	Orphanet

Cerebral cavernous malformation