Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002135	HP:0002135	Basal ganglia calcification	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	184	1373	611492
HP:0002135	HP:0002135	Basal ganglia calcification	0	CASR CL E G H	846	601198	Hypocalcemia, autosomal dominant 1	601198	C0342345	OMIM	1	2330	1514	601199
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1645	3438	609413
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	484	3439	609412
HP:0002135	HP:0002135	Basal ganglia calcification	0	FAM111A CL E G H	63901	93325				ORPHA	1	189	24725	615292
HP:0002135	HP:0002135	Basal ganglia calcification	0	FAM111A CL E G H	63901	127000	Kenny-Caffey syndrome type 2	127000	C4316787	OMIM	1	189	24725	615292
HP:0002135	HP:0002135	Basal ganglia calcification	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	272	4274	121014
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNAS CL E G H	2778	79443				ORPHA	1	644	4392	139320
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNAS CL E G H	2778	79444				ORPHA	1	644	4392	139320
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	644	4392	139320
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	644	4392	139320
HP:0002135	HP:0002135	Basal ganglia calcification	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	1170	18873	606951
HP:0002135	HP:0002135	Basal ganglia calcification	0	ISG15 CL E G H	9636	616126	Immunodeficiency 38 with basal ganglia calcification	616126	C4015293	OMIM	1	281	4053	147571
HP:0002135	HP:0002135	Basal ganglia calcification	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0002135	HP:0002135	Basal ganglia calcification	0	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	151	8800	190040
HP:0002135	HP:0002135	Basal ganglia calcification	0	PDGFRB CL E G H	5159	615007	Basal ganglia calcification, idiopathic, 4	615007	C3554321	OMIM	1	531	8804	173410
HP:0002135	HP:0002135	Basal ganglia calcification	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0002135	HP:0002135	Basal ganglia calcification	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	199	9545	177046
HP:0002135	HP:0002135	Basal ganglia calcification	0	RNASEH2B CL E G H	79621	610181	Aicardi Goutieres syndrome 2	610181	C3489724	OMIM	1	426	25671	610326
HP:0002135	HP:0002135	Basal ganglia calcification	0	SAMHD1 CL E G H	25939	612952	Aicardi Goutieres syndrome 5	612952	C2749659	OMIM	1	746	15925	606754
HP:0002135	HP:0002135	Basal ganglia calcification	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HP:0002135	HP:0002135	Basal ganglia calcification	0	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	329	30521	611672
HP:0002135	HP:0002135	Basal ganglia calcification	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	418	12269	606609
HP:0002135	HP:0002135	Basal ganglia calcification	0	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	110	12449	604142
HP:0002135	HP:0002135	Basal ganglia calcification	0	XPR1 CL E G H	9213	616413	Basal ganglia calcification, idiopathic, 6	616413	C4225335	OMIM	1	234	12827	605237
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002135	HP:0002135	Basal ganglia calcification	0	ACVR1 CL E G H	90	135100	Progressive myositis ossificans	135100	C0016037	OMIM	0	241	171	102576
HP:0002135	HP:0002135	Basal ganglia calcification	0	CYP2U1 CL E G H	113612	615030	Spastic paraplegia 56, autosomal recessive	615030	C3539507	OMIM	0	291	20582	610670
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNA11 CL E G H	2767	615361	Hypocalcemia, autosomal dominant 2	615361	C3809243	OMIM	0	283	4379	139313