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:0002176	HP:0002176	Spinal cord compression	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0002176	HP:0002176	Spinal cord compression	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002176	HP:0002176	Spinal cord compression	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0002176	HP:0002176	Spinal cord compression	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0002176	HP:0002176	Spinal cord compression	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0002176	HP:0002176	Spinal cord compression	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional	1
HP:0002176	HP:0002176	Spinal cord compression	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040284 - Very rare	284
HP:0002176	HP:0002176	Spinal cord compression	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional	284
HP:0002176	HP:0002176	Spinal cord compression	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0002176	HP:0002176	Spinal cord compression	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0002176	HP:0002176	Spinal cord compression	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0002176	HP:0002176	Spinal cord compression	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0002176	HP:0002176	Spinal cord compression	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0002176	HP:0002176	Spinal cord compression	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.	41
HP:0002176	HP:0002176	Spinal cord compression	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0002176	HP:0002176	Spinal cord compression	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0002176	HP:0002176	Spinal cord compression	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0002176	HP:0002176	Spinal cord compression	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0002176	HP:0002176	Spinal cord compression	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0002176	HP:0002176	Spinal cord compression	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	9
HP:0002176	HP:0002176	Spinal cord compression	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0002176	HP:0002176	Spinal cord compression	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	58
HP:0002176	HP:0002176	Spinal cord compression	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040284 - Very rare	580
HP:0002176	HP:0002176	Spinal cord compression	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0002176	HP:0002176	Spinal cord compression	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0002176	HP:0002176	Spinal cord compression	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0002176	HP:0002176	Spinal cord compression	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome		115
HP:0002176	HP:0002176	Spinal cord compression	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0002176	HP:0002176	Spinal cord compression	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	3
HP:0002176	HP:0002176	Spinal cord compression	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002176	HP:0002176	Spinal cord compression	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002176	HP:0002176	Spinal cord compression	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0002176	HP:0002176	Spinal cord compression	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0002176	HP:0002176	Spinal cord compression	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0002176	HP:0002176	Spinal cord compression	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0002176	HP:0002341	Cervical cord compression	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002176	HP:0002341	Cervical cord compression	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0002176	HP:0002341	Cervical cord compression	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0002176	HP:0002341	Cervical cord compression	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0002176	HP:0002341	Cervical cord compression	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0002176	HP:0002341	Cervical cord compression	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002176	HP:0002341	Cervical cord compression	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0002176	HP:0002341	Cervical cord compression	1	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0002176	HP:0002341	Cervical cord compression	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002176	HP:0002341	Cervical cord compression	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37