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:0002953	HP:0002953	Vertebral compression fracture	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0002953	HP:0002953	Vertebral compression fracture	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0002953	HP:0002953	Vertebral compression fracture	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0002953	HP:0002953	Vertebral compression fracture	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional	1
HP:0002953	HP:0002953	Vertebral compression fracture	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0002953	HP:0002953	Vertebral compression fracture	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.	4
HP:0002953	HP:0002953	Vertebral compression fracture	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0002953	HP:0002953	Vertebral compression fracture	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002953	HP:0002953	Vertebral compression fracture	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002953	HP:0002953	Vertebral compression fracture	0	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040282 - Frequent
HP:0002953	HP:0002953	Vertebral compression fracture	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0002953	HP:0002953	Vertebral compression fracture	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0002953	HP:0002953	Vertebral compression fracture	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:0002953	HP:0002953	Vertebral compression fracture	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0002953	HP:0002953	Vertebral compression fracture	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0002953	HP:0002953	Vertebral compression fracture	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0002953	HP:0002953	Vertebral compression fracture	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0002953	HP:0002953	Vertebral compression fracture	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002953	HP:0002953	Vertebral compression fracture	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0002953	HP:0002953	Vertebral compression fracture	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0002953	HP:0002953	Vertebral compression fracture	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0002953	HP:0002953	Vertebral compression fracture	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0002953	HP:0002953	Vertebral compression fracture	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0002953	HP:0002953	Vertebral compression fracture	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0002953	HP:0002953	Vertebral compression fracture	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0002953	HP:0002953	Vertebral compression fracture	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0002953	HP:0002953	Vertebral compression fracture	0	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI	.	35
HP:0002953	HP:0002953	Vertebral compression fracture	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0002953	HP:0002953	Vertebral compression fracture	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0002953	HP:0002953	Vertebral compression fracture	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.	2
HP:0002953	HP:0002953	Vertebral compression fracture	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0002953	HP:0002953	Vertebral compression fracture	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0002953	HP:0002953	Vertebral compression fracture	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0002953	HP:0002953	Vertebral compression fracture	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0002953	HP:0002953	Vertebral compression fracture	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0002953	HP:0002953	Vertebral compression fracture	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0002953	HP:0002953	Vertebral compression fracture	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0002953	HP:0002953	Vertebral compression fracture	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0002953	HP:0002953	Vertebral compression fracture	0	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040282 - Frequent	12
HP:0002953	HP:0002953	Vertebral compression fracture	0	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040282 - Frequent
HP:0002953	HP:0002953	Vertebral compression fracture	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5