Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	ADA CL E G H	100	102700	Severe combined immunodeficiency due to ADA deficiency	102700	C1863236	OMIM	1	96	215	186	608958
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	CASP10 CL E G H	843	603909	Autoimmune lymphoproliferative syndrome, type 2A	603909	C1858968	OMIM	1	9	236	1500	601762
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	CTLA4 CL E G H	1493	616100	Autoimmune lymphoproliferatiVe syndrome, type V	616100	C4015214	OMIM	1	72	114	2505	123890
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	FAS CL E G H	355	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	142	169	11920	134637
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	FASLG CL E G H	356	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	11	98	11936	134638
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	108	256	6106	300292
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	1	19	176	6008	147730
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	68	631	1742	606453
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	NBN CL E G H	4683	647				ORPHA	1	148	2045	7652	602667
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	NBN CL E G H	4683	251260	Microcephaly, normal intelligence and immunodeficiency	251260	C0398791	OMIM	1	148	2045	7652	602667
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	18	134	14374	606636
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	PNP CL E G H	4860	613179	Purine-nucleoside phosphorylase deficiency	613179	C0268125	OMIM	1	34	139	7892	164050
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	RAG1 CL E G H	5896	231154				ORPHA	1	187	334	9831	179615
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	STAT1 CL E G H	6772	391487				ORPHA	1	130	249	11362	600555
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	STAT3 CL E G H	6774	615952	Autoimmune disease, multisystem, infantile-onset, 1	615952	C4014795	OMIM	1	155	291	11364	102582
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	25	242	11386	605921
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	TPP2 CL E G H	7174	444463				ORPHA	1	4	197	12016	190470
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	CD3G CL E G H	917	615607	Immunodeficiency 17	615607	C3810107	OMIM	0	4	85	1675	186740
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	STAT1 CL E G H	6772	614162	Immunodeficiency 31C	614162	C3279990	OMIM	0	130	249	11362	600555
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	TTC7A CL E G H	57217	436252				ORPHA	0	46	279	19750	609332
HP:0001890	HP:0001890	Autoimmune hemolytic anemia	0	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	0	46	279	19750	609332