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:0002136	HP:0002136	Broad-based gait	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0002136	HP:0002136	Broad-based gait	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.	88
HP:0002136	HP:0002136	Broad-based gait	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040283 - Occasional	165
HP:0002136	HP:0002136	Broad-based gait	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0002136	HP:0002136	Broad-based gait	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent	72
HP:0002136	HP:0002136	Broad-based gait	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.	72
HP:0002136	HP:0002136	Broad-based gait	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	4
HP:0002136	HP:0002136	Broad-based gait	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	HP:0040284 - Very rare	17
HP:0002136	HP:0002136	Broad-based gait	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0002136	HP:0002136	Broad-based gait	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0002136	HP:0002136	Broad-based gait	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0002136	HP:0002136	Broad-based gait	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002136	HP:0002136	Broad-based gait	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0002136	HP:0002136	Broad-based gait	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0002136	HP:0002136	Broad-based gait	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0002136	HP:0002136	Broad-based gait	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0002136	HP:0002136	Broad-based gait	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0002136	HP:0002136	Broad-based gait	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0002136	HP:0002136	Broad-based gait	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0002136	HP:0002136	Broad-based gait	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0002136	HP:0002136	Broad-based gait	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0002136	HP:0002136	Broad-based gait	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0002136	HP:0002136	Broad-based gait	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0002136	HP:0002136	Broad-based gait	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0002136	HP:0002136	Broad-based gait	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040282 - Frequent	57
HP:0002136	HP:0002136	Broad-based gait	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent	33
HP:0002136	HP:0002136	Broad-based gait	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0002136	HP:0002136	Broad-based gait	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient	.	3
HP:0002136	HP:0002136	Broad-based gait	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0002136	HP:0002136	Broad-based gait	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0002136	HP:0002136	Broad-based gait	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0002136	HP:0002136	Broad-based gait	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent	102
HP:0002136	HP:0002136	Broad-based gait	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	111
HP:0002136	HP:0002136	Broad-based gait	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002136	HP:0002136	Broad-based gait	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare	160
HP:0002136	HP:0002136	Broad-based gait	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002136	HP:0002136	Broad-based gait	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0002136	HP:0002136	Broad-based gait	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002136	HP:0002136	Broad-based gait	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0002136	HP:0002136	Broad-based gait	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	HP:0040283 - Occasional	2
HP:0002136	HP:0002136	Broad-based gait	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002136	HP:0002136	Broad-based gait	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures		10
HP:0002136	HP:0002136	Broad-based gait	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0002136	HP:0002136	Broad-based gait	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0002136	HP:0002136	Broad-based gait	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional	35
HP:0002136	HP:0002136	Broad-based gait	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0002136	HP:0002136	Broad-based gait	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0002136	HP:0002136	Broad-based gait	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0002136	HP:0002136	Broad-based gait	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional	950
HP:0002136	HP:0002136	Broad-based gait	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0002136	HP:0002136	Broad-based gait	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0002136	HP:0002136	Broad-based gait	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0002136	HP:0002136	Broad-based gait	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0002136	HP:0002136	Broad-based gait	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0002136	HP:0002136	Broad-based gait	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0002136	HP:0002136	Broad-based gait	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0002136	HP:0002136	Broad-based gait	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	HP:0040283 - Occasional	470
HP:0002136	HP:0002136	Broad-based gait	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0002136	HP:0002136	Broad-based gait	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	121
HP:0002136	HP:0002136	Broad-based gait	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0002136	HP:0002136	Broad-based gait	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0002136	HP:0002136	Broad-based gait	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0002136	HP:0002136	Broad-based gait	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0002136	HP:0002136	Broad-based gait	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002136	HP:0002136	Broad-based gait	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0002136	HP:0002136	Broad-based gait	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0002136	HP:0002136	Broad-based gait	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0002136	HP:0002136	Broad-based gait	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0002136	HP:0002136	Broad-based gait	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0002136	HP:0002136	Broad-based gait	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0002136	HP:0002136	Broad-based gait	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0002136	HP:0002136	Broad-based gait	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	HP:0040283 - Occasional	53
HP:0002136	HP:0002136	Broad-based gait	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0002136	HP:0002136	Broad-based gait	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0002136	HP:0002136	Broad-based gait	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0002136	HP:0002136	Broad-based gait	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0002136	HP:0002136	Broad-based gait	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0002136	HP:0002136	Broad-based gait	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0002136	HP:0002136	Broad-based gait	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0002136	HP:0002136	Broad-based gait	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002136	HP:0002136	Broad-based gait	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0002136	HP:0002136	Broad-based gait	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0002136	HP:0002136	Broad-based gait	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0002136	HP:0002136	Broad-based gait	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0002136	HP:0002136	Broad-based gait	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0002136	HP:0002136	Broad-based gait	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0002136	HP:0002136	Broad-based gait	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	HP:0040281 - Very frequent	37
HP:0002136	HP:0002136	Broad-based gait	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	37
HP:0002136	HP:0002136	Broad-based gait	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent	14
HP:0002136	HP:0002136	Broad-based gait	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002136	HP:0002136	Broad-based gait	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0002136	HP:0002136	Broad-based gait	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0002136	HP:0002136	Broad-based gait	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002136	HP:0002136	Broad-based gait	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0002136	HP:0002136	Broad-based gait	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002136	HP:0002136	Broad-based gait	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0002136	HP:0002136	Broad-based gait	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002136	HP:0002136	Broad-based gait	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0002136	HP:0002136	Broad-based gait	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0002136	HP:0002136	Broad-based gait	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002136	HP:0002136	Broad-based gait	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0002136	HP:0002136	Broad-based gait	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0002136	HP:0002136	Broad-based gait	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0002136	HP:0002136	Broad-based gait	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0002136	HP:0002136	Broad-based gait	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	HP:0040281 - Very frequent	278
HP:0002136	HP:0002136	Broad-based gait	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional	278
HP:0002136	HP:0002136	Broad-based gait	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	278
HP:0002136	HP:0002136	Broad-based gait	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	278
HP:0002136	HP:0002136	Broad-based gait	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:0002136	HP:0002136	Broad-based gait	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0002136	HP:0002136	Broad-based gait	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent	8
HP:0002136	HP:0002136	Broad-based gait	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0002136	HP:0002136	Broad-based gait	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0002136	HP:0002136	Broad-based gait	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002136	HP:0002136	Broad-based gait	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0002136	HP:0002136	Broad-based gait	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0002136	HP:0002136	Broad-based gait	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0002136	HP:0002136	Broad-based gait	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0002136	HP:0002136	Broad-based gait	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0002136	HP:0002136	Broad-based gait	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0002136	HP:0002136	Broad-based gait	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5