Tumor predisposition 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
TUMOR PREDISPOSITION SYNDROME 1	614327 C3280492 OMIM:614327	BAP1	Unknown	21874000 21874003 21941004 23684012 24855403 27748099 28793149 31382694	CTD, Disgenet, HPO	Polycomb repressive complex UCH proteinases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		BRCA2	Unknown	—	Disgenet	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		DNAH1	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
TUMOR PREDISPOSITION SYNDROME 2	619975 C5774186 MONDO:0859267	MBD4	Causal	29760383 30049810 30714079 31322271 32239153 35381620 35460607	ClinGen, ClinVar, Disgenet, HPO	Base excision repair Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine +1 more
TUMOR PREDISPOSITION SYNDROME 3	615848 MONDO:0014368 OMIM:615848	POT1	Causal	37140166 24686846 25482530 24686849 30586141	CTD, ClinVar, GenCC, HPO, ClinGen	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
TUMOR PREDISPOSITION SYNDROME 4	609265 C5882668	CHEK2	Unknown	—	Disgenet, HPO	Cell cycle p53 signaling pathway Cellular senescence +9 more