Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002135	HP:0002135	Basal ganglia calcification	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	HP:0040284 - Very rare	49
HP:0002135	HP:0002135	Basal ganglia calcification	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0002135	HP:0002135	Basal ganglia calcification	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0002135	HP:0002135	Basal ganglia calcification	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0002135	HP:0002135	Basal ganglia calcification	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	HP:0040283 - Occasional	18
HP:0002135	HP:0002135	Basal ganglia calcification	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	158
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	199
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	199
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	55
HP:0002135	HP:0002135	Basal ganglia calcification	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	55
HP:0002135	HP:0002135	Basal ganglia calcification	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0002135	HP:0002135	Basal ganglia calcification	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0002135	HP:0002135	Basal ganglia calcification	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0002135	HP:0002135	Basal ganglia calcification	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2	HP:0040283 - Occasional	16
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0002135	HP:0002135	Basal ganglia calcification	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0002135	HP:0002135	Basal ganglia calcification	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0002135	HP:0002135	Basal ganglia calcification	0	ISG15 CL E G H	9636	4053	OMIM:616126	Immunodeficiency 38 with basal ganglia calcification		4
HP:0002135	HP:0002135	Basal ganglia calcification	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002135	HP:0002135	Basal ganglia calcification	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0002135	HP:0002135	Basal ganglia calcification	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0002135	HP:0002135	Basal ganglia calcification	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0002135	HP:0002135	Basal ganglia calcification	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0002135	HP:0002135	Basal ganglia calcification	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0002135	HP:0002135	Basal ganglia calcification	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0002135	HP:0002135	Basal ganglia calcification	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	.	28
HP:0002135	HP:0002135	Basal ganglia calcification	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002135	HP:0002135	Basal ganglia calcification	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002135	HP:0002135	Basal ganglia calcification	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2		34
HP:0002135	HP:0002135	Basal ganglia calcification	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002135	HP:0002135	Basal ganglia calcification	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0002135	HP:0002135	Basal ganglia calcification	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0002135	HP:0002135	Basal ganglia calcification	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0002135	HP:0002135	Basal ganglia calcification	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0002135	HP:0002135	Basal ganglia calcification	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0002135	HP:0002135	Basal ganglia calcification	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002135	HP:0002135	Basal ganglia calcification	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0002135	HP:0002135	Basal ganglia calcification	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002135	HP:0002135	Basal ganglia calcification	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0002135	HP:0002135	Basal ganglia calcification	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6		4