Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BETA PLUS THALASSEMIA	C3841475	HBB	Unknown	—	Disgenet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
BETA THALASSEMIA	C0005283 MONDO:0019402	HBA2	Causal	—	Disgenet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +2 more
		HBB	Causal	—	ClinVar, Disgenet, GenCC	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
		BCL11A	Unknown	—	Disgenet	—
		CACNA1H	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +4 more
		CAD	Unknown	—	Disgenet	Arginine biosynthesis Pyrimidine metabolism Alanine, aspartate and glutamate metabolism +3 more
		COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		DHODH	Unknown	—	Disgenet	Pyrimidine metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		EPO	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Hormone signaling +8 more
		GATA1	Unknown	—	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
		GH1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Neuroactive ligand-receptor interaction Hormone signaling +6 more
		GSTT1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		HAMP	Unknown	—	Disgenet	Hormone signaling TGF-beta signaling pathway
		HBS1L	Unknown	—	Disgenet	mRNA surveillance pathway Legionellosis mRNA decay by 3' to 5' exoribonuclease
		HFE	Unknown	—	Disgenet	TGF-beta signaling pathway Transferrin endocytosis and recycling
		HLA-DQB1	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		LCN2	Unknown	—	Disgenet	IL-17 signaling pathway Interleukin-4 and Interleukin-13 signaling Neutrophil degranulation +2 more
		TFR2	Unknown	—	Disgenet	TGF-beta signaling pathway Transferrin endocytosis and recycling
		TFRC	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus HIF-1 signaling pathway Endocytosis +8 more
		TNF	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more
		UMPS	Unknown	—	Disgenet	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
BETA THALASSEMIA INTERMEDIA	C0472767	HBB	Causal	—	Disgenet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE	C1858990 MESH:C565834	HBB	Unknown	—	CTD, Disgenet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
BETA ZERO THALASSEMIA	C0271980	HBB	Causal	—	Disgenet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
BETA-THALASSEMIA	613985 MESH:D017086	-	Unknown	—	HPO	—
		CACNA1H	Unknown	31542421	CTD	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +4 more
		CAD	Unknown	38827	CTD	Arginine biosynthesis Pyrimidine metabolism Alanine, aspartate and glutamate metabolism +3 more
		DHODH	Unknown	38827	CTD	Pyrimidine metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		EPO	Unknown	16225658	CTD	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Hormone signaling +8 more
		HAMP	Unknown	16755567	CTD	Hormone signaling TGF-beta signaling pathway
		HBA2	Unknown	17292142	CTD	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +2 more
		HBB	Unknown	16755567 23975182 3021607 6270663 6280057 88735	CTD, HPO	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
		LCN2	Unknown	16755567	CTD	IL-17 signaling pathway Interleukin-4 and Interleukin-13 signaling Neutrophil degranulation +2 more
		TFR2	Unknown	16755567	CTD	TGF-beta signaling pathway Transferrin endocytosis and recycling
		TFRC	Unknown	16755567	CTD	Virion - Lassa virus and SFTS virus HIF-1 signaling pathway Endocytosis +8 more
		UMPS	Unknown	38827	CTD	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
BETA-THALASSEMIA HBB/LCRB	MONDO:0013517	HBB	Causal	—	ClinGen, ClinVar, GenCC	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
BETA-THALASSEMIA INTERMEDIA	231222 MONDO:0016487	HBB	Unknown	21886666	CTD, Orphanet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
BETA-THALASSEMIA MAJOR	231214 MONDO:0016486	HBB	Causal	21886666	GWAS catalog, Orphanet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE	603902	HBB	Unknown	—	HPO	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME	231393 MONDO:0010745	GATA1	Causal	20301538	ClinVar, GenCC, Orphanet	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

Beta thalassemia

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