Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ATYPICAL HEMOLYTIC UREMIC SYNDROME	C2931788 MESH:D065766	ADAMTS13	Unknown	—	Disgenet
		C1GALT1C1	Unknown	—	Disgenet
		C3	Unknown	—	CTD Disgenet
		CD46	Unknown	14615110	CTD Disgenet
		CEP290	Unknown	—	Disgenet
		CFB	Unknown	17182750	CTD Disgenet
		CFH	Unknown	14978182 22019782	CTD Disgenet
		CFHR1	Unknown	—	CTD Disgenet
		CFHR3	Unknown	—	CTD Disgenet
		CFHR5	Unknown	—	Disgenet
		CFI	Unknown	—	CTD Disgenet
		COL4A5	Unknown	—	Disgenet
		DGKE	Unknown	23542698	CTD Disgenet
		HBB	Unknown	—	Disgenet
		MMACHC	Unknown	—	Disgenet
		NPHP3	Unknown	—	Disgenet
		PLG	Unknown	—	Disgenet
		SMARCAL1	Unknown	—	Disgenet
		THBD	Unknown	19625716	CTD Disgenet
		TMEM67	Unknown	—	Disgenet
ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH COMPLEMENT GENE ABNORMALITY	544472 C5680166	C3	Unknown	20301541	Disgenet Orphanet
		CD46	Unknown	20301541	Disgenet Orphanet
		CFB	Unknown	20301541	Disgenet Orphanet
		CFH	Unknown	20301541	Disgenet Orphanet
		CFI	Unknown	20301541	Disgenet Orphanet
		THBD	Unknown	20301541	Orphanet
ATYPICAL HEMOLYTIC-UREMIC SYNDROME	MONDO:0016244	CD46	Causal	14566051 14615110 1588280 16762990 17027083 20513133 23780777 29644059 30958843 33238263	ClinGen Orphanet
		CFH	Causal	12424708 14978182 16338962 17517971 28057640 28941939 83964	CTD ClinGen
		CFI	Causal	15173250 15917334 17597211 20016463 28671664	ClinGen GWAS catalog
		CFHR4	Unknown	—	ClinVar
		THBD	Unknown	—	ClinGen
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY	MONDO:0013042	CFB	Causal	17182750 19584399 20513133 20530807 21902819 23624872 24652797 2496628	ClinGen ClinVar GWAS catalog
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH C3 ANOMALY	MONDO:0013043	C3	Causal	18796626 21285368 25608561 26826462 30714990 9291131	ClinGen ClinVar GWAS catalog
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH DGKE DEFICIENCY	MONDO:0018159	DGKE	Unknown	23542698 25135762 26018111 26887830	ClinGen GWAS catalog
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY	MONDO:0013041	CFI	Causal	15917334 16621965 20016463	ClinVar GWAS catalog
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH MCP/CD46 ANOMALY	MONDO:0013040	CD46	Causal	—	ClinVar GenCC
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY	MONDO:0013044	THBD	Unknown	19625716 20513133 23787556 27064621	ClinVar Disgenet
HEMOLYTIC UREMIC SYNDROME WITH DGKE DEFICIENCY	357008	DGKE	Unknown	20301541 23542698	Orphanet
HEMOLYTIC UREMIC SYNDROME WITH DIACYLGLYCEROL KINASE EPSILON DEFICIENCY	C5679921	DGKE	Unknown	—	Disgenet
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE	301110 C5829585 MONDO:0957495	C1GALT1C1	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1	MONDO:0009335	CFH	Causal	16621965 20595690 25188723	ClinVar GWAS catalog
		CFHR1	Unknown	—	ClinVar GenCC
		CFHR3	Unknown	22626820	ClinVar
HEMOLYTIC-UREMIC SYNDROME	C0019061 MESH:D006463	DGKE	Causal	—	Disgenet
		TSEN2	Causal	—	Disgenet
		ALB	Unknown	6734075	CTD Disgenet
		C1GALT1C1	Unknown	—	Disgenet
		CD36	Unknown	—	Disgenet
		CD46	Unknown	—	Disgenet
		CFH	Unknown	—	Disgenet

Hemolytic uremic syndrome