Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	C2936783	ATM	Unknown	—	Disgenet
		CHEK2	Unknown	—	Disgenet
		EPCAM	Unknown	—	Disgenet
		FBXO11	Unknown	—	Disgenet
		KCNK12	Unknown	—	Disgenet
		MLH1	Unknown	—	Disgenet
		MLH3	Unknown	—	Disgenet
		MSH2	Unknown	—	Disgenet
		MSH6	Unknown	—	Disgenet
		MUTYH	Unknown	—	Disgenet
		PALB2	Unknown	—	Disgenet
		PMS1	Unknown	—	Disgenet
		PMS2	Unknown	—	Disgenet
		RAD51D	Unknown	—	Disgenet
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2		MLH1	Causal	—	ClinVar
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	C1838333 MESH:C563971	MSH2	Unknown	—	Disgenet
		MSH6	Unknown	—	Disgenet
		PMS2	Unknown	—	CTD Disgenet
		RB1	Unknown	—	Disgenet
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	C1833477 MESH:C563456	FBXO11	Unknown	—	Disgenet
		KMT2D	Unknown	—	Disgenet
		MLH1	Unknown	—	Disgenet
		MSH6	Unknown	—	CTD Disgenet
		PMS2	Unknown	—	Disgenet
		RYR1	Unknown	—	Disgenet
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6	614331 MESH:C566039 MONDO:0013695	TGFBR2	Causal	—	CTD ClinVar HPO
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7	614385 MESH:C565777 MONDO:0013725	MLH3	Causal	—	CTD ClinGen ClinVar GenCC HPO
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8	C2750471 MESH:C567685	EPCAM	Unknown	—	CTD Disgenet
HEREDITARY NON-POLYPOSIS COLON CANCER TYPE 2	C1333991	MLH1	Unknown	—	Disgenet
HEREDITARY NON-POLYPOSIS COLON CANCER TYPE 2	C1333991	MSH2	Unknown	—	Disgenet
HEREDITARY NONPOLYPOSIS COLON CANCER	MONDO:0018630	CHEK2	Causal	—	ClinGen GenCC
		ATM	Unknown	—	GenCC
		CDKN1B	Unknown	—	ClinGen GenCC
		EPHX1	Unknown	—	ClinGen GenCC
		FAN1	Unknown	—	ClinGen GenCC
		NFKBIZ	Unknown	—	ClinGen GenCC
		PTPRJ	Unknown	28316102	ClinGen GWAS catalog
		RPS20	Unknown	—	GenCC
		SMARCA4	Unknown	—	ClinGen GenCC
		XRCC4	Unknown	—	ClinGen GenCC
LYNCH SYNDROME	144 C4552100 MONDO:0005835	MLH1	Causal	12919137 7584997 8128251 12124320 9245993 4063166 9831355 21785361 9927034 15571801 2022152 14635101 20533529 10598809 15923275 20858721 16341550 9927033 8145827 19142183 12112654 28754778 20301390 23100212 26149658	ClinGen ClinVar Disgenet Orphanet
		MSH2	Causal	10528862 12694232 22781090 7874129 8723682 10051005 8261515 23170986 12658575 7937795 16451135 15042510 28754778 20301390 22234272 26076155	ClinGen ClinVar Disgenet Orphanet
		MSH6	Causal	20301390 25318681 9354786 10508506 7604266 8075649 28754778	ClinGen ClinVar Disgenet GWAS catalog Orphanet
		PMS2	Causal	10753224 15872200 15887124 16619239 18602922 20301390 20624957 23012243 23709753 24027009 27435373 30161022 31860975 31992580 34489406 8072530	ClinGen ClinVar Disgenet Orphanet
		ACVR2A	Unknown	—	Disgenet
		APC	Unknown	—	Disgenet
		ASTE1	Unknown	—	Disgenet
		CD44	Unknown	—	Disgenet
		E2F4	Unknown	—	Disgenet
		EPCAM	Unknown	19098912 19177550 20301390 21769135 23530899 23938213 24309898	ClinGen ClinVar Disgenet GWAS catalog Orphanet

Lynch syndrome