Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ANEMIA, HEMOLYTIC	C0002878 MESH:D000743	ABO	Unknown	—	Disgenet	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways +1 more
		AK1	Unknown	—	Disgenet	Purine metabolism Thiamine metabolism Metabolic pathways +3 more
		ANK1	Unknown	—	Disgenet	Proteoglycans in cancer Interaction between L1 and Ankyrins Neurofascin interactions +1 more
		COL4A1	Unknown	23225343	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		EIF2AK1	Unknown	25411909	CTD, Disgenet	Hepatitis C Measles Herpes simplex virus 1 infection
		EPO	Unknown	10733367 16629641 20446436	CTD, Disgenet	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Hormone signaling +8 more
		FCGR2A	Unknown	—	Disgenet	Phagosome Osteoclast differentiation Platelet activation +14 more
		G6PD	Unknown	2502894 4794122 8562390	CTD, Disgenet	Pentose phosphate pathway Glutathione metabolism Metabolic pathways +5 more
		GCLC	Unknown	10515893	CTD, Disgenet	Cysteine and methionine metabolism Glutathione metabolism Metabolic pathways +4 more
		GPI	Unknown	8822954	CTD, Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Starch and sucrose metabolism +8 more
		GSR	Unknown	13931269	CTD, Disgenet	Glutathione metabolism Metabolic pathways Thyroid hormone synthesis +4 more
		HBB	Unknown	—	Disgenet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
		HMOX1	Unknown	9884342	CTD, Disgenet	Porphyrin metabolism Metabolic pathways HIF-1 signaling pathway +11 more
		HP	Unknown	—	Disgenet	Scavenging of heme from plasma Neutrophil degranulation
		IFNA2	Unknown	11010742 15293138 16633111	CTD	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway Necroptosis +26 more
		ITPA	Unknown	20547162	CTD, Disgenet	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		PGK1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Metabolic pathways Carbon metabolism +5 more
		PIEZO1	Unknown	—	Disgenet	—
		PKLR	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pyruvate metabolism Metabolic pathways +7 more
		RHAG	Unknown	—	Disgenet	Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide Rhesus glycoproteins mediate ammonium transport. +1 more
		SLC4A1	Unknown	16227998	CTD, Disgenet	Collecting duct acid secretion Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide +2 more
		SPTA1	Unknown	—	Disgenet	NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade +1 more
		SPTB	Unknown	9005995	CTD, Disgenet	NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade +1 more
		TPI1	Unknown	2876430	CTD, Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Inositol phosphate metabolism +5 more
ANEMIA, HEMOLYTIC, AUTOIMMUNE	MESH:D000744	SLC14A1	Unknown	6427987	CTD	Transport of bile salts and organic acids, metal ions and amine compounds
ANEMIA, HEMOLYTIC, CONGENITAL	C0002881 MESH:D000745	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
		CD46	Unknown	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Virion - Adenovirus Complement and coagulation cascades +2 more
		G6PD	Unknown	—	Disgenet	Pentose phosphate pathway Glutathione metabolism Metabolic pathways +5 more
		GPI	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Starch and sucrose metabolism +8 more
		HBB	Unknown	—	Disgenet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
		PIEZO1	Unknown	—	Disgenet	—
		PLEKHG3	Unknown	—	Disgenet	—
		RHCE	Unknown	9657769	CTD	Rhesus blood group biosynthesis
		RHD	Unknown	9657769	CTD, Disgenet	Rhesus blood group biosynthesis
		SLC4A1	Unknown	—	Disgenet	Collecting duct acid secretion Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide +2 more
		SPTA1	Unknown	—	Disgenet	NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade +1 more
		SPTB	Unknown	—	Disgenet	NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade +1 more
ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC	C0002882 MESH:D000746	AK1	Unknown	—	Disgenet	Purine metabolism Thiamine metabolism Metabolic pathways +3 more
		G6PD	Unknown	10666231 4125296	CTD, Disgenet	Pentose phosphate pathway Glutathione metabolism Metabolic pathways +5 more
		GPI	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Starch and sucrose metabolism +8 more
		HK1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +14 more
		NT5C3A	Unknown	16672222	CTD, Disgenet	Pyrimidine metabolism Metabolic pathways Nucleotide metabolism +1 more
		PKLR	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pyruvate metabolism Metabolic pathways +7 more
		TPI1	Unknown	8503454	CTD, Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Inositol phosphate metabolism +5 more
HEMOLYTIC ANEMIA	EFO_0005558	ADGRA2	Unknown	39024449	GWAS catalog	—
		ATP10D	Unknown	39024449	GWAS catalog	Ion transport by P-type ATPases
		CD300A	Unknown	39024449	GWAS catalog	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Neutrophil degranulation
		CD300LB	Unknown	39024449	GWAS catalog	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell DAP12 interactions
		CNTLN	Unknown	39024449	GWAS catalog	—
		COMMD8	Unknown	39024449	GWAS catalog	Neddylation
		CYP2J2	Unknown	40465716	GWAS catalog	Arachidonic acid metabolism Linoleic acid metabolism Metabolic pathways +7 more
		DTWD2	Unknown	39024449	GWAS catalog	—
		EQTN	Unknown	39024449	GWAS catalog	—
		IFTAP	Unknown	39024449	GWAS catalog	—
		MOB3B	Unknown	39024449	GWAS catalog	—
		NCR2	Unknown	39024449	GWAS catalog	Natural killer cell mediated cytotoxicity Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell DAP12 interactions
		PRKCZ	Unknown	39024449	GWAS catalog	Rap1 signaling pathway Chemokine signaling pathway Sphingolipid signaling pathway +17 more
		PTX4	Unknown	39024449	GWAS catalog	—
		SBF2	Unknown	39024449	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
		SHH	Unknown	39024449	GWAS catalog	Hedgehog signaling pathway Axon guidance Pathways in cancer +9 more
		WDR12	Unknown	39024449	GWAS catalog	Major pathway of rRNA processing in the nucleolus and cytosol
HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY	86817 MONDO:0012967	AK1	Causal	10233365 12649162 15315793 28211224 7947281 9432020	ClinVar, GWAS catalog, Orphanet	Purine metabolism Thiamine metabolism Metabolic pathways +3 more
HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY	712 MONDO:0013275	GPI	Causal	10916680 22782259 27519939 8822952 8822954 9446754	ClinVar, GenCC, Orphanet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Starch and sucrose metabolism +8 more
HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY	90030 C5231513 MONDO:0019531	GSR	Causal	17185460	ClinVar, Disgenet, GWAS catalog, Orphanet	Glutathione metabolism Metabolic pathways Thyroid hormone synthesis +4 more
HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY	C0472792	HK1	Causal	—	ClinVar, Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +14 more
HEMOLYTIC ANEMIA DUE TO PYRIMIDINE 5' NUCLEOTIDASE DEFICIENCY	35120 MONDO:0009946	NT5C3A	Causal	11369620 12714505	ClinVar, GenCC, Orphanet	Pyrimidine metabolism Metabolic pathways Nucleotide metabolism +1 more
HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY	766	PKLR	Unknown	15953013 16704447	Orphanet	Glycolysis / Gluconeogenesis Pyruvate metabolism Metabolic pathways +7 more
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	C3150730	GPI	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pentose phosphate pathway Starch and sucrose metabolism +8 more
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	C3150343	HK1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Fructose and mannose metabolism Galactose metabolism +14 more

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Hemolytic anemia

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