Li-fraumeni syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
LI-FRAUMENI SYNDROME	524 C0085390 MESH:D016864 151623 MONDO:0018875PS151623	CHEK2	Causal	10617473 11719428 20301488 21562711	CTD, Disgenet, Orphanet	Cell cycle p53 signaling pathway Cellular senescence +9 more
		TP53	Causal	20301488 25860607 8134127 8649785 9569035 10484981 8118819 15977174 1565144 1565143 1978757 1679237 2259385 1683921 1933902 1644930	CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		CDKN2A	Unknown	28592523 29263814	Disgenet, Orphanet	Endocrine resistance Platinum drug resistance Cell cycle +33 more
		MDM2	Unknown	23884452	Disgenet, GenCC, Orphanet	Endocrine resistance Platinum drug resistance FoxO signaling pathway +35 more
		WRAP53	Unknown	—	Disgenet	Telomere Extension By Telomerase
LI-FRAUMENI SYNDROME 1	C1835398 MONDO:0007903	CHEK2	Causal	—	Disgenet	Cell cycle p53 signaling pathway Cellular senescence +9 more
		TP53	Causal	—	ClinVar, Disgenet, GenCC	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		WRAP53	Unknown	—	Disgenet	Telomere Extension By Telomerase
LI-FRAUMENI SYNDROME 2	C1836482 MESH:C563755 MONDO:0012233	CHEK2	Unknown	10617473 11719428	CTD, Disgenet, GWAS catalog	Cell cycle p53 signaling pathway Cellular senescence +9 more
LI-FRAUMENI-LIKE SYNDROME	C2675080	TP53	Causal	10484981 1565143 1565144 15977174 1644930 1679237 1683921 1933902 1978757 2259385 8118819 8134127 8649785 9569035	Disgenet, ClinGen	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more