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
		ABCG5	Unknown	—	Disgenet	ABC transporters Fat digestion and absorption Bile secretion +5 more
		ABCG8	Unknown	—	Disgenet	ABC transporters Fat digestion and absorption Bile secretion +5 more
		ACBD5	Unknown	—	Disgenet	Peroxisomal lipid metabolism Class I peroxisomal membrane protein import
		ACTB	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Rap1 signaling pathway Phagosome +54 more
		ACVRL1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Signaling by BMP
		ALB	Unknown	6734075	CTD, Disgenet	Thyroid hormone synthesis Platelet degranulation Recycling of bile acids and salts +7 more
		AP3B1	Unknown	—	Disgenet	Lysosome Golgi Associated Vesicle Biogenesis Signaling by BRAF and RAF fusions
		AP3D1	Unknown	—	Disgenet	Lysosome
		ARPC1B	Unknown	—	Disgenet	Endocytosis Tight junction Fc gamma R-mediated phagocytosis +10 more
		ASPG	Unknown	2187653	CTD, Disgenet	Aspartate and asparagine metabolism
		ATRN	Unknown	—	Disgenet	—
		FYB1	Unknown	—	Disgenet	Rap1 signaling pathway Yersinia infection Generation of second messenger molecules +1 more
		GALE	Unknown	—	Disgenet	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +3 more
		IKZF5	Unknown	—	Disgenet	—
		PTPRJ	Unknown	—	Disgenet	Adherens junction Chemical carcinogenesis - reactive oxygen species Phosphorylation of CD3 and TCR zeta chains +2 more
		RAP1B	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +25 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 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
		THPO	Unknown	39024449	GWAS catalog	Cytokine-cytokine receptor interaction Hormone signaling JAK-STAT signaling pathway +1 more
		TUBB1	Unknown	39024449	GWAS catalog	Phagosome Gap junction Motor proteins +31 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 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY	620475 C5882677	ACTB	Unknown	—	Disgenet, HPO	ATP-dependent chromatin remodeling Rap1 signaling pathway Phagosome +54 more
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 WITH BETA-THALASSEMIA, X-LINKED	314050	GATA1	Unknown	—	HPO	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
THROMBOCYTOPENIA, ANASARCA, FEVER, RENAL INSUFFICIENCY, ORGANOMEGALY SYNDROME	C4552543	RUNX1	Unknown	—	Disgenet	Tight junction Th17 cell differentiation Pathways in cancer +20 more
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE	MESH:D054098	ITGB3	Unknown	2257303 7694683	CTD	Virion - Herpesvirus Rap1 signaling pathway Hormone signaling +39 more
THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS	C1839161 MESH:C564050	GATA1	Unknown	12200364 11809723 24453067 24766296 22706301 10700180 24952648	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

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Thrombocytopenia

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