Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
MISMATCH REPAIR CANCER SYNDROME 1	276300 C5399763 MONDO:0010159	MLH1	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
		MSH2	Causal	10763829 11809679 12549480 15340263 16372347 17601929 18593904 19101824 7550317 9927034	ClinGen Disgenet GWAS catalog
		MSH6	Causal	10763829 11809679 15340263 16000562 16283678 17259933 17557300 18030674 18409202 18593904 9390556 9927034	ClinGen Disgenet GWAS catalog
		PMS2	Causal	10763829 11809679 14574005 15077197 15340263 16204034 17557300 18030674 9500552 9927034	ClinGen Disgenet
		APC	Unknown	—	Disgenet
		ASTE1	Unknown	—	Disgenet
		POLE	Unknown	—	Disgenet
		RNASET2	Unknown	—	Disgenet
		SLC22A9	Unknown	—	Disgenet
		TAF1B	Unknown	—	Disgenet
		TFDP1	Unknown	—	Disgenet
		TGFBR2	Unknown	—	Disgenet
		TP53	Unknown	—	Disgenet
MISMATCH REPAIR CANCER SYNDROME 2	619096 C5436806 MONDO:0030840	MSH2	Causal	26318770 11809679	ClinVar Disgenet HPO
MISMATCH REPAIR CANCER SYNDROME 3	619097 C5436807 MONDO:0030841	MSH6	Causal	—	ClinVar Disgenet GenCC HPO
MISMATCH REPAIR CANCER SYNDROME 4	619101 C5436817 MONDO:0030843	PMS2	Causal	26318770 7661930	ClinVar Disgenet GWAS catalog HPO

Constitutional mismatch repair deficiency