Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATYPICAL HEMOLYTIC UREMIC SYNDROME	C2931788 MESH:D065766	ADAMTS13	Unknown	—	Disgenet	Platelet activation Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		C1GALT1C1	Unknown	—	Disgenet	Mucin type O-glycan biosynthesis Other types of O-glycan biosynthesis Metabolic pathways +2 more
		C3	Unknown	—	CTD, Disgenet	Neuroactive ligand-receptor interaction Phagosome Complement and coagulation cascades +24 more
		CD46	Unknown	14615110	CTD, Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Virion - Adenovirus Complement and coagulation cascades +2 more
		CEP290	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CFB	Unknown	17182750	CTD, Disgenet	Complement and coagulation cascades Staphylococcus aureus infection Coronavirus disease - COVID-19 +3 more
		CFH	Unknown	14978182 22019782	CTD, Disgenet	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CFHR1	Unknown	—	CTD, Disgenet	Complement and coagulation cascades Regulation of Complement cascade
		CFHR3	Unknown	—	CTD, Disgenet	Complement and coagulation cascades Regulation of Complement cascade
		CFHR5	Unknown	—	Disgenet	Complement and coagulation cascades Regulation of Complement cascade
		CFI	Unknown	—	CTD, Disgenet	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		COL4A5	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		DGKE	Unknown	23542698	CTD, Disgenet	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		HBB	Unknown	—	Disgenet	African trypanosomiasis Malaria Erythrocytes take up carbon dioxide and release oxygen +4 more
		MMACHC	Unknown	—	Disgenet	Vitamin digestion and absorption Cobalamin transport and metabolism Cobalamin (Cbl, vitamin B12) transport and metabolism +2 more
		NPHP3	Unknown	—	Disgenet	Trafficking of myristoylated proteins to the cilium
		PLG	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Complement and coagulation cascades Staphylococcus aureus infection +7 more
		SMARCAL1	Unknown	—	Disgenet	—
		THBD	Unknown	19625716	CTD, Disgenet	Complement and coagulation cascades AGE-RAGE signaling pathway in diabetic complications Fluid shear stress and atherosclerosis +2 more
		TMEM67	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH COMPLEMENT GENE ABNORMALITY	544472 C5680166	C3	Unknown	20301541	Disgenet, Orphanet	Neuroactive ligand-receptor interaction Phagosome Complement and coagulation cascades +24 more
		CD46	Unknown	20301541	Disgenet, Orphanet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Virion - Adenovirus Complement and coagulation cascades +2 more
		CFB	Unknown	20301541	Disgenet, Orphanet	Complement and coagulation cascades Staphylococcus aureus infection Coronavirus disease - COVID-19 +3 more
		CFH	Unknown	20301541	Disgenet, Orphanet	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CFI	Unknown	20301541	Disgenet, Orphanet	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		THBD	Unknown	20301541	Orphanet	Complement and coagulation cascades AGE-RAGE signaling pathway in diabetic complications Fluid shear stress and atherosclerosis +2 more
ATYPICAL HEMOLYTIC-UREMIC SYNDROME	MONDO:0016244	CD46	Causal	14566051 14615110 1588280 16762990 17027083 20513133 23780777 29644059 30958843 33238263	ClinGen, Orphanet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Virion - Adenovirus Complement and coagulation cascades +2 more
		CFH	Causal	12424708 14978182 16338962 17517971 28057640 28941939 83964	CTD, ClinGen	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CFI	Causal	15173250 15917334 17597211 20016463 28671664	ClinGen, GWAS catalog	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CFHR4	Unknown	—	ClinVar	Complement and coagulation cascades Regulation of Complement cascade
		THBD	Unknown	—	ClinGen	Complement and coagulation cascades AGE-RAGE signaling pathway in diabetic complications Fluid shear stress and atherosclerosis +2 more
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY	MONDO:0013042	CFB	Causal	17182750 19584399 20513133 20530807 21902819 23624872 24652797 2496628	ClinGen, ClinVar, GWAS catalog	Complement and coagulation cascades Staphylococcus aureus infection Coronavirus disease - COVID-19 +3 more
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY	MONDO:0013043	C3	Causal	18796626 21285368 25608561 26826462 30714990 9291131	ClinGen, ClinVar, GWAS catalog	Neuroactive ligand-receptor interaction Phagosome Complement and coagulation cascades +24 more
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH DGKE DEFICIENCY	MONDO:0018159	DGKE	Unknown	23542698 25135762 26018111 26887830	ClinGen, GWAS catalog	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY	MONDO:0013041	CFI	Causal	15917334 16621965 20016463	ClinVar, GWAS catalog	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY	MONDO:0013040	CD46	Causal	—	ClinVar, GenCC	Virion - Ebolavirus, Lyssavirus and Morbillivirus Virion - Adenovirus Complement and coagulation cascades +2 more
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY	MONDO:0013044	THBD	Unknown	19625716 20513133 23787556 27064621	ClinVar, Disgenet	Complement and coagulation cascades AGE-RAGE signaling pathway in diabetic complications Fluid shear stress and atherosclerosis +2 more
HEMOLYTIC UREMIC SYNDROME WITH DGKE DEFICIENCY	357008	DGKE	Unknown	20301541 23542698	Orphanet	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
HEMOLYTIC UREMIC SYNDROME WITH DIACYLGLYCEROL KINASE EPSILON DEFICIENCY	C5679921	DGKE	Unknown	—	Disgenet	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE	301110 C5829585 MONDO:0957495	C1GALT1C1	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	Mucin type O-glycan biosynthesis Other types of O-glycan biosynthesis Metabolic pathways +2 more
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1	MONDO:0009335	CFH	Causal	16621965 20595690 25188723	ClinVar, GWAS catalog	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CFHR1	Unknown	—	ClinVar, GenCC	Complement and coagulation cascades Regulation of Complement cascade
		CFHR3	Unknown	22626820	ClinVar	Complement and coagulation cascades Regulation of Complement cascade
HEMOLYTIC-UREMIC SYNDROME	C0019061 MESH:D006463	DGKE	Causal	—	Disgenet	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		TSEN2	Causal	—	Disgenet	tRNA processing in the nucleus
		ALB	Unknown	6734075	CTD, Disgenet	Thyroid hormone synthesis Platelet degranulation Recycling of bile acids and salts +7 more
		C1GALT1C1	Unknown	—	Disgenet	Mucin type O-glycan biosynthesis Other types of O-glycan biosynthesis Metabolic pathways +2 more
		CD36	Unknown	—	Disgenet	PPAR signaling pathway Phagosome Efferocytosis +24 more
		CD46	Unknown	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Virion - Adenovirus Complement and coagulation cascades +2 more
		CFH	Unknown	—	Disgenet	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		EPO	Unknown	12053072	CTD, Disgenet	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Hormone signaling +8 more
		IL1A	Unknown	15384034	CTD, Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction Necroptosis +24 more
		IL1B	Unknown	15384034	CTD, Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +47 more
		IL1RN	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Interleukin-10 signaling Interleukin-1 signaling
		IL6	Unknown	15384034	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Antifolate resistance Cytokine-cytokine receptor interaction +59 more
		MBL2	Unknown	—	Disgenet	Phagosome Complement and coagulation cascades Staphylococcus aureus infection +3 more
		NQO1	Unknown	12588957	CTD, Disgenet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors +5 more
		PLA2G7	Unknown	—	Disgenet	Ether lipid metabolism Metabolic pathways Synthesis, secretion, and deacylation of Ghrelin
		TNF	Unknown	15384034	CTD, Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more

Hemolytic uremic syndrome

Bookmark This Disease