Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ACTB-ASSOCIATED SYNDROMIC THROMBOCYTOPENIA	MONDO:0100433	ACTB	Causal	—	GenCC	ATP-dependent chromatin remodeling Rap1 signaling pathway Phagosome +54 more
THROMBOCYTOPENIA	C0040034 MESH:D013921	ACTN1	Causal	—	Disgenet	Focal adhesion Adherens junction Tight junction +8 more
		ADAMTS13	Causal	—	Disgenet	Platelet activation Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ANKRD26	Causal	—	Disgenet	—
		CYCS	Causal	18345000	CTD, Disgenet	Oxidative phosphorylation Metabolic pathways Platinum drug resistance +39 more
		ERCC6L2	Causal	—	Disgenet	—
		ETV6	Causal	25581430 25807284	CTD, Disgenet	Transcriptional misregulation in cancer Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
		F11	Causal	—	Disgenet	Complement and coagulation cascades Intrinsic Pathway of Fibrin Clot Formation
		FLI1	Causal	—	Disgenet	Transcriptional misregulation in cancer
		GATA1	Causal	16966598	CTD, Disgenet	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
		GBA1	Causal	—	Disgenet	—
		GFI1B	Causal	—	Disgenet	—
		GNE	Causal	—	Disgenet	Amino sugar and nucleotide sugar metabolism Biosynthesis of various nucleotide sugars Metabolic pathways +3 more
		GP1BA	Causal	—	Disgenet	ECM-receptor interaction Platelet activation Neutrophil extracellular trap formation +6 more
		GP1BB	Causal	15213848	CTD, Disgenet	ECM-receptor interaction Platelet activation Hematopoietic cell lineage +4 more
		GP9	Causal	15225244	CTD, Disgenet	ECM-receptor interaction Platelet activation Hematopoietic cell lineage +4 more
		ITGA2B	Causal	15225244	CTD, Disgenet	Rap1 signaling pathway PI3K-Akt signaling pathway Focal adhesion +27 more
		ITGB3	Causal	15225244	CTD, Disgenet	Virion - Herpesvirus Rap1 signaling pathway Hormone signaling +39 more
		LYST	Causal	—	Disgenet	—
		MCFD2	Causal	—	Disgenet	COPII-mediated vesicle transport Cargo concentration in the ER Transport to the Golgi and subsequent modification
		MECOM	Causal	—	Disgenet	Lysine degradation Metabolic pathways MAPK signaling pathway +4 more
		MPL	Causal	—	Disgenet	Cytokine-cytokine receptor interaction Hormone signaling JAK-STAT signaling pathway
		MYH9	Causal	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +8 more
		NBEAL2	Causal	—	Disgenet	Neutrophil degranulation
		PTPN11	Causal	—	Disgenet	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		RUNX1	Causal	—	Disgenet	Tight junction Th17 cell differentiation Pathways in cancer +20 more
		SLC45A2	Causal	—	Disgenet	Melanin biosynthesis
		SLFN14	Causal	—	Disgenet	—
		SMAD4	Causal	—	Disgenet	FoxO signaling pathway Hormone signaling Cell cycle +30 more
		SRC	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +92 more
		THBD	Causal	—	Disgenet	Complement and coagulation cascades AGE-RAGE signaling pathway in diabetic complications Fluid shear stress and atherosclerosis +2 more
		THPO	Causal	—	Disgenet	Cytokine-cytokine receptor interaction Hormone signaling JAK-STAT signaling pathway +1 more
		TUBB1	Causal	—	Disgenet	Phagosome Gap junction Motor proteins +31 more
		VWF	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		WAS	Causal	—	Disgenet	Chemokine signaling pathway Adherens junction Tight junction +7 more
THROMBOCYTOPENIA 1	313900 C1839163 MESH:C564052 MONDO:0010743	WAS	Causal	20301357	CTD, ClinVar, Disgenet, HPO	Chemokine signaling pathway Adherens junction Tight junction +7 more
THROMBOCYTOPENIA 10	620484 C5882682 MONDO:0957578	PTPRJ	Causal	30591527	ClinGen, ClinVar, Disgenet, GenCC, HPO	Adherens junction Chemical carcinogenesis - reactive oxygen species Phosphorylation of CD3 and TCR zeta chains +2 more
THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES	620654 C5882734 MONDO:0958000	RAP1B	Causal	—	ClinVar, Disgenet, GenCC, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +25 more
THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY	620757 C5935593 MONDO:0958325	GNE	Causal	—	ClinVar, Disgenet, HPO	Amino sugar and nucleotide sugar metabolism Biosynthesis of various nucleotide sugars Metabolic pathways +3 more
THROMBOCYTOPENIA 13, SYNDROMIC	620776 C5935599 MONDO:0958333	GALE	Causal	—	ClinVar, Disgenet, HPO	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +3 more
THROMBOCYTOPENIA 2	188000 C1861185 MONDO:0008555 OMIM:188000	ANKRD26	Causal	21211618 21467542 23677566 24030261 24430186 25902755 26175287 28109976 30747248	CTD, ClinGen, ClinVar, Disgenet, HPO	—
THROMBOCYTOPENIA 3	273900 C2678311 MESH:C567487 MONDO:0010120	FYB1	Causal	25516138 25876182	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Rap1 signaling pathway Yersinia infection Generation of second messenger molecules +1 more
THROMBOCYTOPENIA 4	612004 C2677608 MESH:C567438 MONDO:0012775	CYCS	Causal	18345000 21192676 24099549 24326104 26123826 27479822 27861742 29287084 30051457	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Platinum drug resistance +39 more
THROMBOCYTOPENIA 5	616216 C4015537 MONDO:0014536 OMIM:616216	ETV6	Causal	28297620 27881370	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Transcriptional misregulation in cancer Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
THROMBOCYTOPENIA 6	616937 C4310789 MONDO:0014837 OMIM:616937	SRC	Causal	26936507 31204551	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +92 more
THROMBOCYTOPENIA 7	619130 C5436874 MONDO:0030867	IKZF5	Causal	22674643 31217188 32419556	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
THROMBOCYTOPENIA 9	620478 C5882678 MONDO:0957572	THPO	Causal	10583217 28466964 32150607 9425899	ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction Hormone signaling JAK-STAT signaling pathway +1 more

Thrombocytopenia

Bookmark This Disease