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:0002317	HP:0002317	Unsteady gait	0	AIFM1 CL E G H	9131	300614	Deafness, X-linked 5	300614	C1845095	OMIM	1	487	8768	300169
HP:0002317	HP:0002317	Unsteady gait	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	790	801	182350
HP:0002317	HP:0002317	Unsteady gait	0	ATP2B3 CL E G H	492	314978				ORPHA	1	301	816	300014
HP:0002317	HP:0002317	Unsteady gait	0	ATP7A CL E G H	538	300489	Distal spinal muscular atrophy, X-linked 3	300489	C1845359	OMIM	1	1283	869	300011
HP:0002317	HP:0002317	Unsteady gait	0	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0002317	HP:0002317	Unsteady gait	0	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0002317	HP:0002317	Unsteady gait	0	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0002317	HP:0002317	Unsteady gait	0	BCL11B CL E G H	64919	618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	618092	CN253429	OMIM	1	330	13222	606558
HP:0002317	HP:0002317	Unsteady gait	0	BSCL2 CL E G H	26580	139536				ORPHA	1	435	15832	606158
HP:0002317	HP:0002317	Unsteady gait	0	CACNA1A CL E G H	773	98758				ORPHA	1	2689	1388	601011
HP:0002317	HP:0002317	Unsteady gait	0	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0002317	HP:0002317	Unsteady gait	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0002317	HP:0002317	Unsteady gait	0	CAMTA1 CL E G H	23261	314647				ORPHA	1	334	18806	611501
HP:0002317	HP:0002317	Unsteady gait	0	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	334	18806	611501
HP:0002317	HP:0002317	Unsteady gait	0	CCDC88C CL E G H	440193	423275				ORPHA	1	279	19967	611204
HP:0002317	HP:0002317	Unsteady gait	0	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	279	19967	611204
HP:0002317	HP:0002317	Unsteady gait	0	CHD3 CL E G H	1107	618205	SNIJDERS BLOK-CAMPEAU SYNDROME	618205		OMIM	1	210	1918	602120
HP:0002317	HP:0002317	Unsteady gait	0	CIZ1 CL E G H	25792	420492				ORPHA	1	235	16744	611420
HP:0002317	HP:0002317	Unsteady gait	0	CRAT CL E G H	1384	617917	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8	617917	CN895591	OMIM	1	132	2342	600184
HP:0002317	HP:0002317	Unsteady gait	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0002317	HP:0002317	Unsteady gait	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	66	25613	616120
HP:0002317	HP:0002317	Unsteady gait	0	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	66	25613	616120
HP:0002317	HP:0002317	Unsteady gait	0	CYP2U1 CL E G H	113612	320411				ORPHA	1	195	20582	610670
HP:0002317	HP:0002317	Unsteady gait	0	CYP2U1 CL E G H	113612	615030	Spastic paraplegia 56, autosomal recessive	615030	C3539507	OMIM	1	195	20582	610670
HP:0002317	HP:0002317	Unsteady gait	0	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	82	2661	603448
HP:0002317	HP:0002317	Unsteady gait	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	106	29812	610534
HP:0002317	HP:0002317	Unsteady gait	0	DDHD1 CL E G H	80821	101008				ORPHA	1	302	19714	614603
HP:0002317	HP:0002317	Unsteady gait	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	60	3007	605951
HP:0002317	HP:0002317	Unsteady gait	0	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	493	3192	602959
HP:0002317	HP:0002317	Unsteady gait	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002317	HP:0002317	Unsteady gait	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002317	HP:0002317	Unsteady gait	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002317	HP:0002317	Unsteady gait	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002317	HP:0002317	Unsteady gait	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002317	HP:0002317	Unsteady gait	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0002317	HP:0002317	Unsteady gait	0	GAN CL E G H	8139	643				ORPHA	1	661	4137	605379
HP:0002317	HP:0002317	Unsteady gait	0	GARS CL E G H	2617	139536				ORPHA	1		4162	600287
HP:0002317	HP:0002317	Unsteady gait	0	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	797	4283	304040
HP:0002317	HP:0002317	Unsteady gait	0	GLRX5 CL E G H	51218	401866				ORPHA	1	77	20134	609588
HP:0002317	HP:0002317	Unsteady gait	0	HACE1 CL E G H	57531	464282				ORPHA	1	107	21033	610876
HP:0002317	HP:0002317	Unsteady gait	0	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	641	4868	605837
HP:0002317	HP:0002317	Unsteady gait	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	735	4851	613004
HP:0002317	HP:0002317	Unsteady gait	0	KCNQ5 CL E G H	56479	617601	MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	617601	C4539851	OMIM	1	326	6299	607357
HP:0002317	HP:0002317	Unsteady gait	0	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	133	18039	605393
HP:0002317	HP:0002317	Unsteady gait	0	KIF1A CL E G H	547	101010				ORPHA	1	2132	888	601255
HP:0002317	HP:0002317	Unsteady gait	0	MAST1 CL E G H	22983	618273	618273	618273		OMIM	1	79	19034	612256
HP:0002317	HP:0002317	Unsteady gait	0	MATR3 CL E G H	9782	600				ORPHA	1	333	6912	164015
HP:0002317	HP:0002317	Unsteady gait	0	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	721	6946	603294
HP:0002317	HP:0002317	Unsteady gait	0	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	123	7045	602616
HP:0002317	HP:0002317	Unsteady gait	0	MME CL E G H	4311	497764				ORPHA	1	422	7154	120520
HP:0002317	HP:0002317	Unsteady gait	0	MME CL E G H	4311	617017	Charcot-Marie-Tooth disease, axonal, type 2T	617017	C4015635	OMIM	1	422	7154	120520
HP:0002317	HP:0002317	Unsteady gait	0	MTFMT CL E G H	123263	614947	Combined oxidative phosphorylation deficiency 15	614947	C3554182	OMIM	1	181	29666	611766
HP:0002317	HP:0002317	Unsteady gait	0	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	145	26742	610647
HP:0002317	HP:0002317	Unsteady gait	0	OPA3 CL E G H	80207	67036				ORPHA	1	448	8142	606580
HP:0002317	HP:0002317	Unsteady gait	0	PAK1 CL E G H	5058	618158	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY	618158		OMIM	1	43	8590	602590
HP:0002317	HP:0002317	Unsteady gait	0	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	41	8729	176740
HP:0002317	HP:0002317	Unsteady gait	0	PDE10A CL E G H	10846	494526				ORPHA	1	161	8772	610652
HP:0002317	HP:0002317	Unsteady gait	0	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	161	8772	610652
HP:0002317	HP:0002317	Unsteady gait	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	282	21350	608769
HP:0002317	HP:0002317	Unsteady gait	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	366	9717	170993
HP:0002317	HP:0002317	Unsteady gait	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	598	9039	603604
HP:0002317	HP:0002317	Unsteady gait	0	PMP22 CL E G H	5376	98916				ORPHA	1	453	9118	601097
HP:0002317	HP:0002317	Unsteady gait	0	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	140	18667	613036
HP:0002317	HP:0002317	Unsteady gait	0	PNPO CL E G H	55163	79096				ORPHA	1	281	30260	603287
HP:0002317	HP:0002317	Unsteady gait	0	PNPO CL E G H	55163	610090	Pyridoxal 5'-phosphate-dependent epilepsy	610090	C1864723	OMIM	1	281	30260	603287
HP:0002317	HP:0002317	Unsteady gait	0	PPP3CA CL E G H	5530	617711	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	617711	C4540199	OMIM	1	233	9314	114105
HP:0002317	HP:0002317	Unsteady gait	0	PRKRA CL E G H	8575	210571				ORPHA	1	163	9438	603424
HP:0002317	HP:0002317	Unsteady gait	0	PRNP CL E G H	5621	603218	Huntington disease-like 1	603218	C1864112	OMIM	1	164	9449	176640
HP:0002317	HP:0002317	Unsteady gait	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	112	9761	604198
HP:0002317	HP:0002317	Unsteady gait	0	REEP1 CL E G H	65055	139536				ORPHA	1	377	25786	609139
HP:0002317	HP:0002317	Unsteady gait	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	104	18466	604123
HP:0002317	HP:0002317	Unsteady gait	0	RUBCN CL E G H	9711	615705	Spinocerebellar ataxia, autosomal recessive 15	615705	C3810326	OMIM	1	118	28991	613516
HP:0002317	HP:0002317	Unsteady gait	0	SACS CL E G H	26278	98				ORPHA	1	2506	10519	604490
HP:0002317	HP:0002317	Unsteady gait	0	SAMD9L CL E G H	219285	2585				ORPHA	1	379	1349	611170
HP:0002317	HP:0002317	Unsteady gait	0	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	379	1349	611170
HP:0002317	HP:0002317	Unsteady gait	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	537	10805	600119
HP:0002317	HP:0002317	Unsteady gait	0	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	776	14294	606230
HP:0002317	HP:0002317	Unsteady gait	0	STUB1 CL E G H	10273	412057				ORPHA	1	170	11427	607207
HP:0002317	HP:0002317	Unsteady gait	0	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	1	170	11427	607207
HP:0002317	HP:0002317	Unsteady gait	0	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	219	11449	611224
HP:0002317	HP:0002317	Unsteady gait	0	SYT14 CL E G H	255928	284271				ORPHA	1	92	23143	610949
HP:0002317	HP:0002317	Unsteady gait	0	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	144	12009	190450
HP:0002317	HP:0002317	Unsteady gait	0	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	44	12335	602345
HP:0002317	HP:0002317	Unsteady gait	0	VAC14 CL E G H	55697	617054	Striatonigral degeneration, childhood-onset	617054	C4310743	OMIM	1	220	25507	604632
HP:0002317	HP:0002317	Unsteady gait	0	VWA3B CL E G H	200403	616948	Spinocerebellar ataxia, autosomal recessive 22	616948	C4310781	OMIM	1	63	28385	614884
HP:0002317	HP:0002317	Unsteady gait	0	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	52	12828	194360
HP:0002317	HP:0002317	Unsteady gait	0	ZSWIM6 CL E G H	57688	617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865	CN800196	OMIM	1	466	29316	615951
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	AIFM1 CL E G H	9131	300614	Deafness, X-linked 5	300614	C1845095	OMIM	1	487	8768	300169
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	790	801	182350
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ATP2B3 CL E G H	492	314978				ORPHA	1	301	816	300014
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ATP7A CL E G H	538	300489	Distal spinal muscular atrophy, X-linked 3	300489	C1845359	OMIM	1	1283	869	300011
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ATXN10 CL E G H	25814	98761				ORPHA	1	108	10549	611150
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ATXN8OS CL E G H	6315	98760				ORPHA	1	79	10561	603680
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	BCL11B CL E G H	64919	618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	618092	CN253429	OMIM	1	330	13222	606558
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	BSCL2 CL E G H	26580	139536				ORPHA	1	435	15832	606158
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CACNA1A CL E G H	773	98758				ORPHA	1	2689	1388	601011
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CACNA1G CL E G H	8913	458803				ORPHA	1	445	1394	604065
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	1	445	1394	604065
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CAMTA1 CL E G H	23261	314647				ORPHA	1	334	18806	611501
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	334	18806	611501
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CCDC88C CL E G H	440193	423275				ORPHA	1	279	19967	611204
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CCDC88C CL E G H	440193	616053	Spinocerebellar ataxia 40	616053	CN252333	OMIM	1	279	19967	611204
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CHD3 CL E G H	1107	618205	SNIJDERS BLOK-CAMPEAU SYNDROME	618205		OMIM	1	210	1918	602120
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CIZ1 CL E G H	25792	420492				ORPHA	1	235	16744	611420
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CRAT CL E G H	1384	617917	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8	617917	CN895591	OMIM	1	132	2342	600184
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CWF19L1 CL E G H	55280	453521				ORPHA	1	66	25613	616120
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	66	25613	616120
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CYP2U1 CL E G H	113612	320411				ORPHA	1	195	20582	610670
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CYP2U1 CL E G H	113612	615030	Spastic paraplegia 56, autosomal recessive	615030	C3539507	OMIM	1	195	20582	610670
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	82	2661	603448
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	106	29812	610534
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	DDHD1 CL E G H	80821	101008				ORPHA	1	302	19714	614603
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	60	3007	605951
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	493	3192	602959
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	142	3257	606686
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	138	3258	606454
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	140	3259	606273
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	170	3260	606687
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	422	3261	603945
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	GAN CL E G H	8139	643				ORPHA	1	661	4137	605379
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	GARS CL E G H	2617	139536				ORPHA	1		4162	600287
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	797	4283	304040
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	GLRX5 CL E G H	51218	401866				ORPHA	1	77	20134	609588
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	HACE1 CL E G H	57531	464282				ORPHA	1	107	21033	610876
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	641	4868	605837
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	735	4851	613004
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	KCNQ5 CL E G H	56479	617601	MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	617601	C4539851	OMIM	1	326	6299	607357
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	133	18039	605393
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	KIF1A CL E G H	547	101010				ORPHA	1	2132	888	601255
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	MAST1 CL E G H	22983	618273	618273	618273		OMIM	1	79	19034	612256
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	MATR3 CL E G H	9782	600				ORPHA	1	333	6912	164015
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	721	6946	603294
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	123	7045	602616
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	MME CL E G H	4311	497764				ORPHA	1	422	7154	120520
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	MME CL E G H	4311	617017	Charcot-Marie-Tooth disease, axonal, type 2T	617017	C4015635	OMIM	1	422	7154	120520
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	MTFMT CL E G H	123263	614947	Combined oxidative phosphorylation deficiency 15	614947	C3554182	OMIM	1	181	29666	611766
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	145	26742	610647
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	OPA3 CL E G H	80207	67036				ORPHA	1	448	8142	606580
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PAK1 CL E G H	5058	618158	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY	618158		OMIM	1	43	8590	602590
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	41	8729	176740
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PDE10A CL E G H	10846	494526				ORPHA	1	161	8772	610652
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	161	8772	610652
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	282	21350	608769
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	366	9717	170993
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	598	9039	603604
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PMP22 CL E G H	5376	98916				ORPHA	1	453	9118	601097
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	140	18667	613036
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PNPO CL E G H	55163	79096				ORPHA	1	281	30260	603287
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PNPO CL E G H	55163	610090	Pyridoxal 5'-phosphate-dependent epilepsy	610090	C1864723	OMIM	1	281	30260	603287
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PPP3CA CL E G H	5530	617711	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	617711	C4540199	OMIM	1	233	9314	114105
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PRKRA CL E G H	8575	210571				ORPHA	1	163	9438	603424
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PRNP CL E G H	5621	603218	Huntington disease-like 1	603218	C1864112	OMIM	1	164	9449	176640
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	112	9761	604198
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	REEP1 CL E G H	65055	139536				ORPHA	1	377	25786	609139
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	104	18466	604123
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	RUBCN CL E G H	9711	615705	Spinocerebellar ataxia, autosomal recessive 15	615705	C3810326	OMIM	1	118	28991	613516
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SACS CL E G H	26278	98				ORPHA	1	2506	10519	604490
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SAMD9L CL E G H	219285	2585				ORPHA	1	379	1349	611170
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	379	1349	611170
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	537	10805	600119
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	776	14294	606230
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	STUB1 CL E G H	10273	412057				ORPHA	1	170	11427	607207
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	1	170	11427	607207
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	219	11449	611224
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SYT14 CL E G H	255928	284271				ORPHA	1	92	23143	610949
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	144	12009	190450
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	TRPC3 CL E G H	7222	616410	Spinocerebellar ataxia 41	616410	C4225158	OMIM	1	44	12335	602345
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	VAC14 CL E G H	55697	617054	Striatonigral degeneration, childhood-onset	617054	C4310743	OMIM	1	220	25507	604632
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	VWA3B CL E G H	200403	616948	Spinocerebellar ataxia, autosomal recessive 22	616948	C4310781	OMIM	1	63	28385	614884
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	XRCC1 CL E G H	7515	617633	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633	C4539948	OMIM	1	52	12828	194360
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ZSWIM6 CL E G H	57688	617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865	CN800196	OMIM	1	466	29316	615951
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002317	HP:0002317	Unsteady gait	0	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0002317	HP:0002317	Unsteady gait	0	AP3B2 CL E G H	8120	442835				ORPHA	0	437	567	602166
HP:0002317	HP:0002317	Unsteady gait	0	ARV1 CL E G H	64801	442835				ORPHA	0	71	29561	611647
HP:0002317	HP:0002317	Unsteady gait	0	ATP6V1A CL E G H	523	442835				ORPHA	0	123	851	607027
HP:0002317	HP:0002317	Unsteady gait	0	CACNA1A CL E G H	773	442835				ORPHA	0	2689	1388	601011
HP:0002317	HP:0002317	Unsteady gait	0	CLTC CL E G H	1213	442835				ORPHA	0	390	2092	118955
HP:0002317	HP:0002317	Unsteady gait	0	CNKSR2 CL E G H	22866	442835				ORPHA	0	264	19701	300724
HP:0002317	HP:0002317	Unsteady gait	0	CYFIP2 CL E G H	26999	442835				ORPHA	0	416	13760	606323
HP:0002317	HP:0002317	Unsteady gait	0	DHDDS CL E G H	79947	442835				ORPHA	0	318	20603	608172
HP:0002317	HP:0002317	Unsteady gait	0	DNM1 CL E G H	1759	442835				ORPHA	0	622	2972	602377
HP:0002317	HP:0002317	Unsteady gait	0	EEF1A2 CL E G H	1917	442835				ORPHA	0	493	3192	602959
HP:0002317	HP:0002317	Unsteady gait	0	FGF12 CL E G H	2257	442835				ORPHA	0	210	3668	601513
HP:0002317	HP:0002317	Unsteady gait	0	GABRB2 CL E G H	2561	442835				ORPHA	0	421	4082	600232
HP:0002317	HP:0002317	Unsteady gait	0	GRIN2D CL E G H	2906	442835				ORPHA	0	519	4588	602717
HP:0002317	HP:0002317	Unsteady gait	0	HCN1 CL E G H	348980	442835				ORPHA	0	635	4845	602780
HP:0002317	HP:0002317	Unsteady gait	0	KCNA2 CL E G H	3737	442835				ORPHA	0	325	6220	176262
HP:0002317	HP:0002317	Unsteady gait	0	KCNB1 CL E G H	3745	442835				ORPHA	0	518	6231	600397
HP:0002317	HP:0002317	Unsteady gait	0	KIF1C CL E G H	10749	397946				ORPHA	0	366	6317	603060
HP:0002317	HP:0002317	Unsteady gait	0	NECAP1 CL E G H	25977	442835				ORPHA	0	167	24539	611623
HP:0002317	HP:0002317	Unsteady gait	0	NTRK2 CL E G H	4915	442835				ORPHA	0	333	8032	600456
HP:0002317	HP:0002317	Unsteady gait	0	NUS1 CL E G H	116150	442835				ORPHA	0	220	21042	610463
HP:0002317	HP:0002317	Unsteady gait	0	PPP2R2B CL E G H	5521	98762				ORPHA	0	44	9305	604325
HP:0002317	HP:0002317	Unsteady gait	0	PPP3CA CL E G H	5530	442835				ORPHA	0	233	9314	114105
HP:0002317	HP:0002317	Unsteady gait	0	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	0	78	24713	617387
HP:0002317	HP:0002317	Unsteady gait	0	SCN3A CL E G H	6328	442835				ORPHA	0	1096	10590	182391
HP:0002317	HP:0002317	Unsteady gait	0	SCN8A CL E G H	6334	442835				ORPHA	0	1494	10596	600702
HP:0002317	HP:0002317	Unsteady gait	0	SLC13A5 CL E G H	284111	442835				ORPHA	0	568	23089	608305
HP:0002317	HP:0002317	Unsteady gait	0	SLC1A2 CL E G H	6506	442835				ORPHA	0	236	10940	600300
HP:0002317	HP:0002317	Unsteady gait	0	STXBP1 CL E G H	6812	442835				ORPHA	0	871	11444	602926
HP:0002317	HP:0002317	Unsteady gait	0	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1086	11497	603384
HP:0002317	HP:0002317	Unsteady gait	0	SYNJ1 CL E G H	8867	442835				ORPHA	0	1046	11503	604297
HP:0002317	HP:0002317	Unsteady gait	0	SZT2 CL E G H	23334	442835				ORPHA	0	2342	29040	615463
HP:0002317	HP:0002317	Unsteady gait	0	TRAK1 CL E G H	22906	442835				ORPHA	0	106	29947	608112
HP:0002317	HP:0002317	Unsteady gait	0	UBA5 CL E G H	79876	442835				ORPHA	0	157	23230	610552
HP:0002317	HP:0002317	Unsteady gait	0	WWOX CL E G H	51741	442835				ORPHA	0	967	12799	605131
HP:0002317	HP:0002317	Unsteady gait	0	YWHAG CL E G H	7532	442835				ORPHA	0	128	12852	605356
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	AP3B2 CL E G H	8120	442835				ORPHA	0	437	567	602166
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ARV1 CL E G H	64801	442835				ORPHA	0	71	29561	611647
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	ATP6V1A CL E G H	523	442835				ORPHA	0	123	851	607027
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CACNA1A CL E G H	773	442835				ORPHA	0	2689	1388	601011
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CLTC CL E G H	1213	442835				ORPHA	0	390	2092	118955
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CNKSR2 CL E G H	22866	442835				ORPHA	0	264	19701	300724
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	CYFIP2 CL E G H	26999	442835				ORPHA	0	416	13760	606323
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	DHDDS CL E G H	79947	442835				ORPHA	0	318	20603	608172
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	DNM1 CL E G H	1759	442835				ORPHA	0	622	2972	602377
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	EEF1A2 CL E G H	1917	442835				ORPHA	0	493	3192	602959
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	FGF12 CL E G H	2257	442835				ORPHA	0	210	3668	601513
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	GABRB2 CL E G H	2561	442835				ORPHA	0	421	4082	600232
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	GRIN2D CL E G H	2906	442835				ORPHA	0	519	4588	602717
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	HCN1 CL E G H	348980	442835				ORPHA	0	635	4845	602780
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	KCNA2 CL E G H	3737	442835				ORPHA	0	325	6220	176262
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	KCNB1 CL E G H	3745	442835				ORPHA	0	518	6231	600397
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	KIF1C CL E G H	10749	397946				ORPHA	0	366	6317	603060
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	NECAP1 CL E G H	25977	442835				ORPHA	0	167	24539	611623
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	NTRK2 CL E G H	4915	442835				ORPHA	0	333	8032	600456
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	NUS1 CL E G H	116150	442835				ORPHA	0	220	21042	610463
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PPP2R2B CL E G H	5521	98762				ORPHA	0	44	9305	604325
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	PPP3CA CL E G H	5530	442835				ORPHA	0	233	9314	114105
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	0	78	24713	617387
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SCN3A CL E G H	6328	442835				ORPHA	0	1096	10590	182391
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SCN8A CL E G H	6334	442835				ORPHA	0	1494	10596	600702
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SLC13A5 CL E G H	284111	442835				ORPHA	0	568	23089	608305
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SLC1A2 CL E G H	6506	442835				ORPHA	0	236	10940	600300
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	STXBP1 CL E G H	6812	442835				ORPHA	0	871	11444	602926
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1086	11497	603384
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SYNJ1 CL E G H	8867	442835				ORPHA	0	1046	11503	604297
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	SZT2 CL E G H	23334	442835				ORPHA	0	2342	29040	615463
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	TRAK1 CL E G H	22906	442835				ORPHA	0	106	29947	608112
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	UBA5 CL E G H	79876	442835				ORPHA	0	157	23230	610552
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	WWOX CL E G H	51741	442835				ORPHA	0	967	12799	605131
HP:0002317	HP:0006962	Gait instability, worse in the dark	1	YWHAG CL E G H	7532	442835				ORPHA	0	128	12852	605356