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:0000012	HP:0000012	Urinary urgency	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0000012	HP:0000012	Urinary urgency	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0000012	HP:0000012	Urinary urgency	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0000012	HP:0000012	Urinary urgency	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	HP:0040283 - Occasional	89
HP:0000012	HP:0000012	Urinary urgency	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000012	HP:0000012	Urinary urgency	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040283 - Occasional	71
HP:0000012	HP:0000012	Urinary urgency	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0000012	HP:0000012	Urinary urgency	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0000012	HP:0000012	Urinary urgency	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0000012	HP:0000012	Urinary urgency	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0000012	HP:0000012	Urinary urgency	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional	9
HP:0000012	HP:0000012	Urinary urgency	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0000012	HP:0000012	Urinary urgency	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000012	HP:0000012	Urinary urgency	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	HP:0040283 - Occasional	25
HP:0000012	HP:0000012	Urinary urgency	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0000012	HP:0000012	Urinary urgency	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0000012	HP:0000012	Urinary urgency	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000012	HP:0000012	Urinary urgency	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0000012	HP:0000012	Urinary urgency	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000012	HP:0000012	Urinary urgency	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0000012	HP:0000012	Urinary urgency	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0000012	HP:0000012	Urinary urgency	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0000012	HP:0000012	Urinary urgency	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000012	HP:0000012	Urinary urgency	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000012	HP:0000012	Urinary urgency	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0000012	HP:0000012	Urinary urgency	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040283 - Occasional	46
HP:0000012	HP:0000012	Urinary urgency	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0000012	HP:0000012	Urinary urgency	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional	17
HP:0000012	HP:0000012	Urinary urgency	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0000012	HP:0000012	Urinary urgency	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0000012	HP:0000012	Urinary urgency	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0000012	HP:0000012	Urinary urgency	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0000012	HP:0000012	Urinary urgency	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0000012	HP:0000012	Urinary urgency	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0000012	HP:0000012	Urinary urgency	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent	25
HP:0000012	HP:0000012	Urinary urgency	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0000012	HP:0000012	Urinary urgency	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000012	HP:0000012	Urinary urgency	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0000012	HP:0000012	Urinary urgency	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0000012	HP:0000012	Urinary urgency	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0000012	HP:0000012	Urinary urgency	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0000012	HP:0000012	Urinary urgency	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0000012	HP:0000012	Urinary urgency	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0000012	HP:0000012	Urinary urgency	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	HP:0040283 - Occasional	87
HP:0000012	HP:0000012	Urinary urgency	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0000012	HP:0000012	Urinary urgency	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0000012	HP:0000012	Urinary urgency	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0000012	HP:0000012	Urinary urgency	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0000012	HP:0000012	Urinary urgency	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0000012	HP:0000012	Urinary urgency	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0000012	HP:0000012	Urinary urgency	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0000012	HP:0000012	Urinary urgency	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0000012	HP:0000012	Urinary urgency	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0000012	HP:0000012	Urinary urgency	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0000012	HP:0000012	Urinary urgency	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0000012	HP:0000012	Urinary urgency	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0000012	HP:0000012	Urinary urgency	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0000012	HP:0000012	Urinary urgency	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0000012	HP:0000012	Urinary urgency	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	HP:0040284 - Very rare
HP:0000012	HP:0000012	Urinary urgency	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0000012	HP:0000012	Urinary urgency	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0000012	HP:0000012	Urinary urgency	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189