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:0002141	HP:0002141	Gait imbalance	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	88
HP:0002141	HP:0002141	Gait imbalance	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	114
HP:0002141	HP:0002141	Gait imbalance	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0002141	HP:0002141	Gait imbalance	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	71
HP:0002141	HP:0002141	Gait imbalance	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	5
HP:0002141	HP:0002141	Gait imbalance	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0002141	HP:0002141	Gait imbalance	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional	19
HP:0002141	HP:0002141	Gait imbalance	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent	9
HP:0002141	HP:0002141	Gait imbalance	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0002141	HP:0002141	Gait imbalance	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0002141	HP:0002141	Gait imbalance	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0002141	HP:0002141	Gait imbalance	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0002141	HP:0002141	Gait imbalance	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040283 - Occasional	33
HP:0002141	HP:0002141	Gait imbalance	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0002141	HP:0002141	Gait imbalance	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0002141	HP:0002141	Gait imbalance	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002141	HP:0002141	Gait imbalance	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	18
HP:0002141	HP:0002141	Gait imbalance	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040282 - Frequent	197
HP:0002141	HP:0002141	Gait imbalance	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040281 - Very frequent	18
HP:0002141	HP:0002141	Gait imbalance	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0002141	HP:0002141	Gait imbalance	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002141	HP:0002141	Gait imbalance	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002141	HP:0002141	Gait imbalance	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002141	HP:0002141	Gait imbalance	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040283 - Occasional	11
HP:0002141	HP:0002141	Gait imbalance	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0002141	HP:0002141	Gait imbalance	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0002141	HP:0002141	Gait imbalance	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002141	HP:0002141	Gait imbalance	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0002141	HP:0002141	Gait imbalance	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0002141	HP:0002141	Gait imbalance	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent	140
HP:0002141	HP:0002141	Gait imbalance	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0002141	HP:0002141	Gait imbalance	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002141	HP:0002141	Gait imbalance	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002141	HP:0002141	Gait imbalance	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002141	HP:0002141	Gait imbalance	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0002141	HP:0002141	Gait imbalance	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	121
HP:0002141	HP:0002141	Gait imbalance	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0002141	HP:0002141	Gait imbalance	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent	7
HP:0002141	HP:0002141	Gait imbalance	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	11
HP:0002141	HP:0002141	Gait imbalance	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0002141	HP:0002141	Gait imbalance	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional	79
HP:0002141	HP:0002141	Gait imbalance	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional	79
HP:0002141	HP:0002141	Gait imbalance	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0002141	HP:0002141	Gait imbalance	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0002141	HP:0002141	Gait imbalance	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	948
HP:0002141	HP:0002141	Gait imbalance	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0002141	HP:0002141	Gait imbalance	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	3
HP:0002141	HP:0002141	Gait imbalance	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional	125
HP:0002141	HP:0002141	Gait imbalance	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	162
HP:0002141	HP:0002141	Gait imbalance	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0002141	HP:0002141	Gait imbalance	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0002141	HP:0002141	Gait imbalance	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0002141	HP:0002141	Gait imbalance	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	54
HP:0002141	HP:0002141	Gait imbalance	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	149
HP:0002141	HP:0002141	Gait imbalance	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0002141	HP:0002141	Gait imbalance	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0002141	HP:0002141	Gait imbalance	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040281 - Very frequent	12
HP:0002141	HP:0002141	Gait imbalance	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002141	HP:0002141	Gait imbalance	0	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent	57
HP:0002141	HP:0002141	Gait imbalance	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional	278
HP:0002141	HP:0002141	Gait imbalance	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	278
HP:0002141	HP:0002141	Gait imbalance	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	278
HP:0002141	HP:0002141	Gait imbalance	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0002141	HP:0002141	Gait imbalance	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0002141	HP:0002141	Gait imbalance	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0002141	HP:0002141	Gait imbalance	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent