Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
THROMBOCYTOPENIA	C0040034 MESH:D013921 MONDO:0002049	MED12L	Unknown	—	Disgenet	Thyroid hormone signaling pathway
		MEIS1	Unknown	—	ClinGen	Signaling pathways regulating pluripotency of stem cells Transcriptional misregulation in cancer
		MPIG6B	Unknown	—	Disgenet	GPVI-mediated activation cascade
		MTHFR	Unknown	19391036	CTD, Disgenet	One carbon pool by folate Metabolic pathways Antifolate resistance +2 more
		NBEA	Unknown	—	Disgenet	—
		NFE2	Unknown	31951293 7774011 8469283 9716588	ClinGen, Disgenet, GWAS catalog	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function Factors involved in megakaryocyte development and platelet production
		NSD2	Unknown	—	Disgenet	Lysine degradation Metabolic pathways Transcriptional misregulation in cancer +5 more
		P2RY12	Unknown	—	Disgenet	Efferocytosis Platelet activation ADP signalling through P2Y purinoceptor 12 +2 more
		PCID2	Unknown	—	Disgenet	—
		PECAM1	Unknown	10848805	CTD, Disgenet	Efferocytosis Cell adhesion molecules Leukocyte transendothelial migration +8 more
		PF4	Unknown	10381515 11588041 15795722 20162249 8282825 9158107 9446652	CTD, Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +6 more
		PLAT	Unknown	—	Disgenet	Apelin signaling pathway Complement and coagulation cascades Transcriptional misregulation in cancer +4 more
		PLCB2	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
		PLG	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Complement and coagulation cascades Staphylococcus aureus infection +7 more
		PROS1	Unknown	—	Disgenet	Efferocytosis Complement and coagulation cascades Platelet degranulation +7 more
		PROZ	Unknown	—	Disgenet	Gamma-carboxylation of protein precursors Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus Removal of aminoterminal propeptides from gamma-carboxylated proteins
		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
		RASGRP2	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +5 more
		SERPINC1	Unknown	—	Disgenet	Complement and coagulation cascades Intrinsic Pathway of Fibrin Clot Formation Common Pathway of Fibrin Clot Formation +2 more
		SPARC	Unknown	27725143	CTD, Disgenet	Platelet degranulation Nuclear signaling by ERBB4 ECM proteoglycans +1 more
		STXBP2	Unknown	—	Disgenet	Platelet degranulation Other interleukin signaling
		TBXAS1	Unknown	—	Disgenet	Arachidonic acid metabolism Metabolic pathways Platelet activation +3 more
		TLN1	Unknown	30888838 35861643	GWAS catalog	Rap1 signaling pathway Focal adhesion Platelet activation +16 more
		TNF	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more
		TNFRSF10A	Unknown	19652058	CTD, Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor p53 signaling pathway +15 more
		TPM4	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +5 more
		TPP2	Unknown	—	Disgenet	Antigen processing: Ubiquitination & Proteasome degradation
		VPS33B	Unknown	—	Disgenet	Prevention of phagosomal-lysosomal fusion
		WDR1	Unknown	17515402	CTD, Disgenet	Platelet degranulation
		XDH	Unknown	2510358	CTD, Disgenet	Purine metabolism Caffeine metabolism Drug metabolism - other enzymes +5 more
THROMBOCYTOPENIA 4	MONDO_0012775	ARHGEF3	Unknown	39024449	GWAS catalog	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		BAK1	Unknown	39024449	GWAS catalog	Platinum drug resistance Protein processing in endoplasmic reticulum Apoptosis +32 more
		CDKN2A	Unknown	39024449	GWAS catalog	Endocrine resistance Platinum drug resistance Cell cycle +33 more
		GCSAML	Unknown	39024449	GWAS catalog	—
		GTF3C5	Unknown	39024449	GWAS catalog	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter
		HBS1L	Unknown	39024449	GWAS catalog	mRNA surveillance pathway Legionellosis mRNA decay by 3' to 5' exoribonuclease
		JAK2	Unknown	39024449	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Chemokine signaling pathway Hormone signaling +51 more
		JMJD1C	Unknown	39024449	GWAS catalog	Transcriptional misregulation in cancer Factors involved in megakaryocyte development and platelet production
		PNPLA3	Unknown	39024449	GWAS catalog	Glycerolipid metabolism Metabolic pathways Acyl chain remodeling of DAG and TAG
		PPARG	Unknown	39024449	GWAS catalog	PPAR signaling pathway Efferocytosis AMPK signaling pathway +13 more
		SIRPA	Unknown	39024449	GWAS catalog	Efferocytosis Osteoclast differentiation Cell surface interactions at the vascular wall +2 more
		THADA	Unknown	39024449	GWAS catalog	tRNA modification in the nucleus and cytosol
		THPO	Unknown	39024449	GWAS catalog	Cytokine-cytokine receptor interaction Hormone signaling JAK-STAT signaling pathway +1 more
		TPM4	Unknown	39024449	GWAS catalog	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +5 more
		TUBB1	Unknown	39024449	GWAS catalog	Phagosome Gap junction Motor proteins +31 more
		ZNF474	Unknown	40465716	GWAS catalog	—
		ZNF475	Unknown	40465716	GWAS catalog	—
THROMBOCYTOPENIA 5	C4015537	CLDN16	Unknown	—	Disgenet	Virion - Hepatitis viruses Cell adhesion molecules Tight junction +3 more
THROMBOCYTOPENIA DUE TO PLATELET ALLOIMMUNIZATION	C0272286	FCGR3A	Unknown	—	Disgenet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +12 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, 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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