Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
BLEEDING DIATHESIS DUE TO GLYCOPROTEIN VI DEFICIENCY	98885	GP6	Unknown	19549989 19552682	Orphanet
BLEEDING DIATHESIS DUE TO THROMBOXANE SYNTHESIS DEFICIENCY	220443 MONDO:0013524	TBXA2R	Unknown	—	GenCC Orphanet
BLEEDING DISORDER DUE TO CALDAG-GEFI DEFICIENCY	420566	RASGRP2	Unknown	24958846	Orphanet
BLEEDING DISORDER DUE TO DEFECTIVE THROMBOXANE A2 RECEPTOR	MESH:C566055	TBXA2R	Unknown	—	CTD
BLEEDING DISORDER DUE TO DEFICIENCY OF CALCIUM AND DIACYLGLYCEROL-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR I	C4510815	RASGRP2	Unknown	—	Disgenet
BLEEDING DISORDER DUE TO P2RY12 DEFECT	C1853278	MED12L	Unknown	—	Disgenet
		P2RX1	Unknown	—	Disgenet
		P2RY12	Unknown	—	Disgenet
BLEEDING DISORDER DUE TO P2Y12 DEFECT	36355	P2RY12	Unknown	11196645 12578987	Orphanet
BLEEDING DISORDER, PLATELET-TYPE, 11	614201 OMIM:614201	GP6	Unknown	—	CTD HPO
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO	MONDO:0800447	TBXA2R	Causal	19828703 22517902 7929844	CTD ClinVar
BLEEDING DISORDER, PLATELET-TYPE, 15	615193 C3554663 OMIM:615193	ACTN1	Unknown	—	CTD Disgenet HPO
BLEEDING DISORDER, PLATELET-TYPE, 16	187800 C5442010	ITGA2B	Unknown	—	Disgenet HPO
BLEEDING DISORDER, PLATELET-TYPE, 16	187800 C5442010	ITGB3	Unknown	—	Disgenet
BLEEDING DISORDER, PLATELET-TYPE, 17	187900	GFI1B	Unknown	—	HPO
BLEEDING DISORDER, PLATELET-TYPE, 18	615888 C4014584 OMIM:615888	RASGRP2	Unknown	—	CTD Disgenet HPO
BLEEDING DISORDER, PLATELET-TYPE, 19	C4015405 616176 OMIM:616176	GNE	Unknown	—	Disgenet
BLEEDING DISORDER, PLATELET-TYPE, 19	C4015405 616176 OMIM:616176	PRKACG	Unknown	—	CTD Disgenet HPO
BLEEDING DISORDER, PLATELET-TYPE, 20	616913 C4310797 OMIM:616913	SLFN14	Unknown	—	CTD Disgenet HPO
BLEEDING DISORDER, PLATELET-TYPE, 21	617443 C4479515 MONDO:0054577 OMIM:617443	FLI1	Causal	10981960 14597985 24100448 28748566	CTD ClinGen ClinVar Disgenet HPO
BLEEDING DISORDER, PLATELET-TYPE, 22	618462 C5193111 MONDO:0032765	EPHB2	Unknown	24828792 26517685 29179725 30213874	ClinGen ClinVar Disgenet GWAS catalog HPO
BLEEDING DISORDER, PLATELET-TYPE, 24	619271 C5543280 MONDO:0030996	ITGB3	Causal	19336737 23253071	ClinVar Disgenet GWAS catalog HPO
BLEEDING DISORDER, PLATELET-TYPE, 25	620486 C5882683 MONDO:0957580	TPM4	Causal	21153663 28134622 31249973	ClinVar Disgenet GWAS catalog HPO
BLEEDING DISORDER, PLATELET-TYPE, 8	609821 OMIM:609821	P2RY12	Unknown	—	CTD HPO
BLEEDING DISORDER, VASCULAR-TYPE	620715 C5935577 MONDO:0958229	APOLD1	Unknown	—	ClinVar Disgenet HPO
PLATELET-TYPE BLEEDING DISORDER 10	MONDO:0012031	CD36	Causal	—	ClinVar GenCC
PLATELET-TYPE BLEEDING DISORDER 11	MONDO:0013623	GP6	Causal	10961879 12515812 12738669 19549989 19552682 23815599	ClinGen ClinVar GWAS catalog
PLATELET-TYPE BLEEDING DISORDER 12	MONDO:0011588	PTGS1	Unknown	18657230 28748566 28983057 32299908 33326144 7947975 8521478	ClinGen Orphanet
PLATELET-TYPE BLEEDING DISORDER 15	MONDO:0014078	ACTN1	Causal	23434115 24069336 25361813 26453073 27479822 28562514 31064749 31237726	ClinGen ClinVar Orphanet
PLATELET-TYPE BLEEDING DISORDER 16	MONDO:0008552	ITGA2B	Causal	21454453 24498605 29090484 31064749 31119735 31691484 32581362 33276370 34355501 36430862 6213621 6460044 9834222	ClinGen ClinVar GWAS catalog
PLATELET-TYPE BLEEDING DISORDER 16	MONDO:0008552	ITGB3	Causal	11588040 12816866 18065693 19329429 19336737 19486276 20081061 23253071 24498605 26452979 29090484 29296966 29380037 29439184 31064749 33276370 37515626 38151855 6213621 6460044	ClinGen GWAS catalog
PLATELET-TYPE BLEEDING DISORDER 17	MONDO:0008553	GFI1B	Causal	11825872 23927492 24325358 25258084 27122003 28041820 28082345 28439885 28550182 28880435 30894540 31249973	ClinGen ClinVar GWAS catalog
PLATELET-TYPE BLEEDING DISORDER 18	MONDO:0014386	RASGRP2	Causal	15334074 24958846 27235135 27417588 27663674 28637664 28762304 9789079	ClinGen ClinVar GWAS catalog
PLATELET-TYPE BLEEDING DISORDER 19	MONDO:0014518	GNE	Unknown	30171045	Orphanet
PLATELET-TYPE BLEEDING DISORDER 19	MONDO:0014518	PRKACG	Unknown	25061177 30550360 30819905	ClinGen ClinVar
PLATELET-TYPE BLEEDING DISORDER 20	MONDO:0014830	SLFN14	Causal	26280575 26769223 30431218 31378119	ClinGen ClinVar GWAS catalog
PLATELET-TYPE BLEEDING DISORDER 8	MONDO:0012354	P2RY12	Causal	12578987 16194207 19229056 24612435 25428217	ClinGen ClinVar Orphanet
PLATELET-TYPE BLEEDING DISORDER 9	MONDO:0013622	ITGA2	Unknown	19500323 20883258 21332723	GWAS catalog

Platelet-type bleeding disorder