Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
LI-FRAUMENI SYNDROME	524 C0085390 MESH:D016864 151623 MONDO:0018875PS151623	CHEK2	Causal	10617473 11719428 20301488 21562711	CTD Disgenet Orphanet
		TP53	Causal	20301488 25860607 8134127 8649785 9569035 10484981 8118819 15977174 1565144 1565143 1978757 1679237 2259385 1683921 1933902 1644930	CTD ClinGen ClinVar Disgenet HPO Orphanet
		CDKN2A	Unknown	28592523 29263814	Disgenet Orphanet
		MDM2	Unknown	23884452	Disgenet GenCC Orphanet
		WRAP53	Unknown	—	Disgenet
LI-FRAUMENI SYNDROME 1	C1835398 MONDO:0007903	CHEK2	Causal	—	Disgenet
		TP53	Causal	—	ClinVar Disgenet GenCC
		WRAP53	Unknown	—	Disgenet
LI-FRAUMENI SYNDROME 2	C1836482 MESH:C563755 MONDO:0012233	CHEK2	Unknown	10617473 11719428	CTD Disgenet GWAS catalog
LI-FRAUMENI-LIKE SYNDROME	C2675080	TP53	Causal	—	Disgenet

Li-fraumeni syndrome