Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002136	HP:0002136	Broad-based gait	0	ADGRG1 CL E G H	9289	606854	Polymicrogyria, bilateral frontoparietal	606854	C1847352	OMIM	1	36	277	4512	604110
HP:0002136	HP:0002136	Broad-based gait	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1	16	536	22197	613653
HP:0002136	HP:0002136	Broad-based gait	0	ATCAY CL E G H	85300	94122				ORPHA	1	3	172	779	608179
HP:0002136	HP:0002136	Broad-based gait	0	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1	3	172	779	608179
HP:0002136	HP:0002136	Broad-based gait	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	12	146	1424	114010
HP:0002136	HP:0002136	Broad-based gait	0	CCDC88C CL E G H	440193	423275				ORPHA	1	11	192	19967	611204
HP:0002136	HP:0002136	Broad-based gait	0	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	11	192	19967	611204
HP:0002136	HP:0002136	Broad-based gait	0	CDK10 CL E G H	8558	617694	AL KAISSI SYNDROME	617694	C4540156	OMIM	1	7	69	1770	603464
HP:0002136	HP:0002136	Broad-based gait	0	CHD3 CL E G H	1107	618205	SNIJDERS BLOK-CAMPEAU SYNDROME	618205		OMIM	1	10	77	1918	602120
HP:0002136	HP:0002136	Broad-based gait	0	COL4A3BP CL E G H	10087	616351	Mental retardation, autosomal dominant 34	616351	C4225156	OMIM	1	8		2205	604677
HP:0002136	HP:0002136	Broad-based gait	0	COQ2 CL E G H	27235	227510				ORPHA	1	33	102	25223	609825
HP:0002136	HP:0002136	Broad-based gait	0	CUL4B CL E G H	8450	85293				ORPHA	1	40	247	2555	300304
HP:0002136	HP:0002136	Broad-based gait	0	DDX3X CL E G H	1654	457260				ORPHA	1	78	337	2745	300160
HP:0002136	HP:0002136	Broad-based gait	0	DNAJC12 CL E G H	56521	617384	Hyperphenylalaninemia, mild, non-bh4-deficient	617384	C4479270	OMIM	1	9	41	28908	606060
HP:0002136	HP:0002136	Broad-based gait	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	17	255	24682	609144
HP:0002136	HP:0002136	Broad-based gait	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	1	10	58	18062	138210
HP:0002136	HP:0002136	Broad-based gait	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	13	63	21033	610876
HP:0002136	HP:0002136	Broad-based gait	0	HTT CL E G H	3064	248111				ORPHA	1	8	127	4851	613004
HP:0002136	HP:0002136	Broad-based gait	0	ITPR1 CL E G H	3708	117360	Spinocerebellar ataxia 29	117360	C1861732	OMIM	1	95	501	6180	147265
HP:0002136	HP:0002136	Broad-based gait	0	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	127	379	7132	159555
HP:0002136	HP:0002136	Broad-based gait	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	574	1152	6636	150330
HP:0002136	HP:0002136	Broad-based gait	0	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	16	188	12399	604103
HP:0002136	HP:0002136	Broad-based gait	0	PACS2 CL E G H	23241	618067	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66	618067	CN252658	OMIM	1	2	92	23794	610423
HP:0002136	HP:0002136	Broad-based gait	0	PEX5 CL E G H	5830	616716	Rhizomelic chondrodysplasia punctata type 5	616716	C4225237	OMIM	1	14	280	9719	600414
HP:0002136	HP:0002136	Broad-based gait	0	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	1	32	329	26270	613629
HP:0002136	HP:0002136	Broad-based gait	0	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	11	98	8966	605947
HP:0002136	HP:0002136	Broad-based gait	0	PPM1D CL E G H	8493	617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	617450	C4479517	OMIM	1	63	84	9277	605100
HP:0002136	HP:0002136	Broad-based gait	0	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	5	161	13429	300379
HP:0002136	HP:0002136	Broad-based gait	0	RNF113A CL E G H	7737	300953	Trichothiodystrophy 5, nonphotosensitive	300953	C4225420	OMIM	1	1	174	12974	300951
HP:0002136	HP:0002136	Broad-based gait	0	RNU12 CL E G H	267010	512260				ORPHA	1	1	12	19380	0
HP:0002136	HP:0002136	Broad-based gait	0	SATB2 CL E G H	23314	612313	Chromosome 2q32-q33 deletion syndrome	612313	C2676739	OMIM	1	106	274	21637	608148
HP:0002136	HP:0002136	Broad-based gait	0	SGCB CL E G H	6443	119				ORPHA	1	64	265	10806	600900
HP:0002136	HP:0002136	Broad-based gait	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	1	69	305	10809	608896
HP:0002136	HP:0002136	Broad-based gait	0	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	194	366	14294	606230
HP:0002136	HP:0002136	Broad-based gait	0	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	15	206	11123	300105
HP:0002136	HP:0002136	Broad-based gait	0	TBC1D23 CL E G H	55773	617695	PONTOCEREBELLAR HYPOPLASIA, TYPE 11	617695	C4540164	OMIM	1	9	25	25622	617687
HP:0002136	HP:0002136	Broad-based gait	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	18	91	11588	600075
HP:0002136	HP:0002136	Broad-based gait	0	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	14	34	11796	190120
HP:0002136	HP:0002136	Broad-based gait	0	TMEM106B CL E G H	54664	617964	LEUKODYSTROPHY, HYPOMYELINATING, 16	617964	CN244907	OMIM	1	3	52	22407	613413
HP:0002136	HP:0002136	Broad-based gait	0	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	7	133	11992	601243
HP:0002136	HP:0002136	Broad-based gait	0	TPP1 CL E G H	1200	284324				ORPHA	1	115	481	2073	607998
HP:0002136	HP:0002136	Broad-based gait	0	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	8	169	15974	614141
HP:0002136	HP:0002136	Broad-based gait	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	82	539	18083	605427
HP:0002136	HP:0002136	Broad-based gait	0	UBE3A CL E G H	7337	105830	Angelman syndrome	105830	C0162635	OMIM	1	202	759	12496	601623
HP:0002136	HP:0002136	Broad-based gait	0	UROC1 CL E G H	131669	210128				ORPHA	1	3	68	26444	613012
HP:0002136	HP:0002136	Broad-based gait	0	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	28	374	12698	192977
HP:0002136	HP:0002136	Broad-based gait	0	WDR26 CL E G H	80232	617616	SKRABAN-DEARDORFF SYNDROME	617616	C4539927	OMIM	1	34	69	21208	617424
HP:0002136	HP:0002136	Broad-based gait	0	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	1	15	37	12831	194363
HP:0002136	HP:0002136	Broad-based gait	0	YWHAG CL E G H	7532	617665	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56	617665	C4540034	OMIM	1	5	51	12852	605356
HP:0002136	HP:0002136	Broad-based gait	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	34	136	12877	606480
HP:0002136	HP:0002136	Broad-based gait	0	ZSWIM6 CL E G H	57688	617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865	CN800196	OMIM	1	2	62	29316	615951
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002136	HP:0002136	Broad-based gait	0	AP5Z1 CL E G H	9907	306511				ORPHA	0	16	536	22197	613653
HP:0002136	HP:0002136	Broad-based gait	0	DDX3X CL E G H	1654	300958	Mental retardation, X-linked 102	300958	C4085582	OMIM	0	78	337	2745	300160
HP:0002136	HP:0002136	Broad-based gait	0	GBA2 CL E G H	57704	320391				ORPHA	0	23	194	18986	609471
HP:0002136	HP:0002136	Broad-based gait	0	GTF2E2 CL E G H	2961	616943	Trichothiodystrophy 6, nonphotosensitive	616943	C4310785	OMIM	0	2	69	4651	189964
HP:0002136	HP:0002136	Broad-based gait	0	KCND3 CL E G H	3752	98772				ORPHA	0	29	168	6239	605411
HP:0002136	HP:0002136	Broad-based gait	0	NRXN1 CL E G H	9378	614325	Pitt-Hopkins-like syndrome 2	614325	C3280479	OMIM	0	345	1077	8008	600565
HP:0002136	HP:0002136	Broad-based gait	0	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	0	48	228	9701	600473