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:0003306	HP:0003306	Spinal rigidity	0	ACTA1 CL E G H	58	171439				ORPHA	1	392	129	102610
HP:0003306	HP:0003306	Spinal rigidity	0	ACTA1 CL E G H	58	97244				ORPHA	1	392	129	102610
HP:0003306	HP:0003306	Spinal rigidity	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	392	129	102610
HP:0003306	HP:0003306	Spinal rigidity	0	ACVR1 CL E G H	90	337				ORPHA	1	169	171	102576
HP:0003306	HP:0003306	Spinal rigidity	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	856	939	603883
HP:0003306	HP:0003306	Spinal rigidity	0	CAPN3 CL E G H	825	267				ORPHA	1	1288	1480	114240
HP:0003306	HP:0003306	Spinal rigidity	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003306	HP:0003306	Spinal rigidity	0	COL12A1 CL E G H	1303	75840				ORPHA	1	1944	2188	120320
HP:0003306	HP:0003306	Spinal rigidity	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1470	2211	120220
HP:0003306	HP:0003306	Spinal rigidity	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1470	2211	120220
HP:0003306	HP:0003306	Spinal rigidity	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1644	2212	120240
HP:0003306	HP:0003306	Spinal rigidity	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1644	2212	120240
HP:0003306	HP:0003306	Spinal rigidity	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1644	2212	120240
HP:0003306	HP:0003306	Spinal rigidity	0	COL6A3 CL E G H	1293	75840				ORPHA	1	2414	2213	120250
HP:0003306	HP:0003306	Spinal rigidity	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	2414	2213	120250
HP:0003306	HP:0003306	Spinal rigidity	0	EMD CL E G H	2010	98863				ORPHA	1	618	3331	300384
HP:0003306	HP:0003306	Spinal rigidity	0	FHL1 CL E G H	2273	98863				ORPHA	1	517	3702	300163
HP:0003306	HP:0003306	Spinal rigidity	0	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	517	3702	300163
HP:0003306	HP:0003306	Spinal rigidity	0	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	517	3702	300163
HP:0003306	HP:0003306	Spinal rigidity	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	783	3622	607440
HP:0003306	HP:0003306	Spinal rigidity	0	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003306	HP:0003306	Spinal rigidity	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	157	33882	607875
HP:0003306	HP:0003306	Spinal rigidity	0	KBTBD13 CL E G H	390594	171439				ORPHA	1	431	37227	613727
HP:0003306	HP:0003306	Spinal rigidity	0	KLHL41 CL E G H	10324	171439				ORPHA	1	220	16905	607701
HP:0003306	HP:0003306	Spinal rigidity	0	KY CL E G H	339855	617114	Myopathy, myofibrillar, 7	617114	C4310711	OMIM	1	87	26576	605739
HP:0003306	HP:0003306	Spinal rigidity	0	LMNA CL E G H	4000	98853				ORPHA	1	1622	6636	150330
HP:0003306	HP:0003306	Spinal rigidity	0	LMNA CL E G H	4000	98855				ORPHA	1	1622	6636	150330
HP:0003306	HP:0003306	Spinal rigidity	0	LMNA CL E G H	4000	157973				ORPHA	1	1622	6636	150330
HP:0003306	HP:0003306	Spinal rigidity	0	LMNA CL E G H	4000	181350	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	181350	C0410190	OMIM	1	1622	6636	150330
HP:0003306	HP:0003306	Spinal rigidity	0	LMNA CL E G H	4000	613205	Congenital muscular dystrophy, LMNA-related	613205	C2750785	OMIM	1	1622	6636	150330
HP:0003306	HP:0003306	Spinal rigidity	0	MGME1 CL E G H	92667	352447				ORPHA	1	78	16205	615076
HP:0003306	HP:0003306	Spinal rigidity	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	78	16205	615076
HP:0003306	HP:0003306	Spinal rigidity	0	MYH7 CL E G H	4625	324604				ORPHA	1	3612	7577	160760
HP:0003306	HP:0003306	Spinal rigidity	0	MYPN CL E G H	84665	171439				ORPHA	1	1263	23246	608517
HP:0003306	HP:0003306	Spinal rigidity	0	NEB CL E G H	4703	171439				ORPHA	1	6444	7720	161650
HP:0003306	HP:0003306	Spinal rigidity	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	6444	7720	161650
HP:0003306	HP:0003306	Spinal rigidity	0	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	255	25896	610277
HP:0003306	HP:0003306	Spinal rigidity	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	737	9202	607423
HP:0003306	HP:0003306	Spinal rigidity	0	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	766	19743	607439
HP:0003306	HP:0003306	Spinal rigidity	0	SELENON CL E G H	57190	324604				ORPHA	1	537	15999	606210
HP:0003306	HP:0003306	Spinal rigidity	0	SELENON CL E G H	57190	97244				ORPHA	1	537	15999	606210
HP:0003306	HP:0003306	Spinal rigidity	0	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	537	15999	606210
HP:0003306	HP:0003306	Spinal rigidity	0	SYNE1 CL E G H	23345	98853				ORPHA	1	4598	17089	608441
HP:0003306	HP:0003306	Spinal rigidity	0	SYNE2 CL E G H	23224	98853				ORPHA	1	2497	17084	608442
HP:0003306	HP:0003306	Spinal rigidity	0	TMEM43 CL E G H	79188	98853				ORPHA	1	740	28472	612048
HP:0003306	HP:0003306	Spinal rigidity	0	TOR1AIP1 CL E G H	26092	617072	Muscular dystrophy, limb-girdle, type 2y	617072	C4310731	OMIM	1	332	29456	614512
HP:0003306	HP:0003306	Spinal rigidity	0	TPM2 CL E G H	7169	171439				ORPHA	1	280	12011	190990
HP:0003306	HP:0003306	Spinal rigidity	0	TPM3 CL E G H	7170	171439				ORPHA	1	300	12012	191030
HP:0003306	HP:0003306	Spinal rigidity	0	TRIP4 CL E G H	9325	486815				ORPHA	1	139	12310	604501
HP:0003306	HP:0003306	Spinal rigidity	0	TRIP4 CL E G H	9325	617066	Muscular dystrophy, congenital, davignon-chauveau type	617066	C4310736	OMIM	1	139	12310	604501
HP:0003306	HP:0003306	Spinal rigidity	0	TTN CL E G H	7273	324604				ORPHA	1	22859	12403	188840
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003306	HP:0003306	Spinal rigidity	0	ACTA1 CL E G H	58	171436				ORPHA	0	392	129	102610
HP:0003306	HP:0003306	Spinal rigidity	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	0	213	325	603100
HP:0003306	HP:0003306	Spinal rigidity	0	AGRN CL E G H	375790	98914				ORPHA	0	1782	329	103320
HP:0003306	HP:0003306	Spinal rigidity	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	0	435	15832	606158
HP:0003306	HP:0003306	Spinal rigidity	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	0	115	1527	601047
HP:0003306	HP:0003306	Spinal rigidity	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	0	112	9688	603198
HP:0003306	HP:0003306	Spinal rigidity	0	CFL2 CL E G H	1073	171436				ORPHA	0	147	1875	601443
HP:0003306	HP:0003306	Spinal rigidity	0	CHAT CL E G H	1103	98914				ORPHA	0	771	1912	118490
HP:0003306	HP:0003306	Spinal rigidity	0	COL13A1 CL E G H	1305	98914				ORPHA	0	397	2190	120350
HP:0003306	HP:0003306	Spinal rigidity	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	0	397	2190	120350
HP:0003306	HP:0003306	Spinal rigidity	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	0	29	3796	164810
HP:0003306	HP:0003306	Spinal rigidity	0	KLHL41 CL E G H	10324	171436				ORPHA	0	220	16905	607701
HP:0003306	HP:0003306	Spinal rigidity	0	LMOD3 CL E G H	56203	171436				ORPHA	0	326	6649	616112
HP:0003306	HP:0003306	Spinal rigidity	0	MYO9A CL E G H	4649	98914				ORPHA	0	172	7608	604875
HP:0003306	HP:0003306	Spinal rigidity	0	NEB CL E G H	4703	171436				ORPHA	0	6444	7720	161650
HP:0003306	HP:0003306	Spinal rigidity	0	POMT1 CL E G H	10585	86812				ORPHA	0	737	9202	607423
HP:0003306	HP:0003306	Spinal rigidity	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	0	139	9236	601487
HP:0003306	HP:0003306	Spinal rigidity	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	443	26162	617220
HP:0003306	HP:0003306	Spinal rigidity	0	SLC18A3 CL E G H	6572	98914				ORPHA	0	215	10936	600336
HP:0003306	HP:0003306	Spinal rigidity	0	SLC25A1 CL E G H	6576	98914				ORPHA	0	505	10979	190315
HP:0003306	HP:0003306	Spinal rigidity	0	SLC5A7 CL E G H	60482	98914				ORPHA	0	375	14025	608761
HP:0003306	HP:0003306	Spinal rigidity	0	SNAP25 CL E G H	6616	98914				ORPHA	0	191	11132	600322
HP:0003306	HP:0003306	Spinal rigidity	0	SYT2 CL E G H	127833	98914				ORPHA	0	160	11510	600104
HP:0003306	HP:0003306	Spinal rigidity	0	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	0	437	17103	610032
HP:0003306	HP:0003306	Spinal rigidity	0	TPM2 CL E G H	7169	171436				ORPHA	0	280	12011	190990
HP:0003306	HP:0003306	Spinal rigidity	0	VAMP1 CL E G H	6843	98914				ORPHA	0	118	12642	185880