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:0002355	HP:0002355	Difficulty walking	0	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0002355	HP:0002355	Difficulty walking	0	ACTA1 CL E G H	58	171433				ORPHA	1	506	129	102610
HP:0002355	HP:0002355	Difficulty walking	0	ACTA1 CL E G H	58	171439				ORPHA	1	506	129	102610
HP:0002355	HP:0002355	Difficulty walking	0	ADAR CL E G H	103	51				ORPHA	1	1122	225	146920
HP:0002355	HP:0002355	Difficulty walking	0	ADCY5 CL E G H	111	324588				ORPHA	1	653	236	600293
HP:0002355	HP:0002355	Difficulty walking	0	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0002355	HP:0002355	Difficulty walking	0	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	1	144	28287	612866
HP:0002355	HP:0002355	Difficulty walking	0	ANO5 CL E G H	203859	399096				ORPHA	1	1162	27337	608662
HP:0002355	HP:0002355	Difficulty walking	0	AP4B1 CL E G H	10717	280763				ORPHA	1	403	572	607245
HP:0002355	HP:0002355	Difficulty walking	0	AP4E1 CL E G H	23431	280763				ORPHA	1	509	573	607244
HP:0002355	HP:0002355	Difficulty walking	0	AP4M1 CL E G H	9179	280763				ORPHA	1	429	574	602296
HP:0002355	HP:0002355	Difficulty walking	0	AP4S1 CL E G H	11154	280763				ORPHA	1	148	575	607243
HP:0002355	HP:0002355	Difficulty walking	0	ARL6IP1 CL E G H	23204	401780				ORPHA	1	90	697	607669
HP:0002355	HP:0002355	Difficulty walking	0	ARL6IP1 CL E G H	23204	615685	Spastic paraplegia 61, autosomal recessive	615685	C3810294	OMIM	1	90	697	607669
HP:0002355	HP:0002355	Difficulty walking	0	ARSA CL E G H	410	309271				ORPHA	1	1140	713	607574
HP:0002355	HP:0002355	Difficulty walking	0	ARSI CL E G H	340075	401815				ORPHA	1	131	32521	610009
HP:0002355	HP:0002355	Difficulty walking	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	913	735	613468
HP:0002355	HP:0002355	Difficulty walking	0	ATP13A2 CL E G H	23400	513436				ORPHA	1	974	30213	610513
HP:0002355	HP:0002355	Difficulty walking	0	ATP13A2 CL E G H	23400	306674				ORPHA	1	974	30213	610513
HP:0002355	HP:0002355	Difficulty walking	0	ATP7B CL E G H	540	905				ORPHA	1	2303	870	606882
HP:0002355	HP:0002355	Difficulty walking	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	295	4117	601873
HP:0002355	HP:0002355	Difficulty walking	0	BICD2 CL E G H	23299	363454				ORPHA	1	740	17208	609797
HP:0002355	HP:0002355	Difficulty walking	0	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0002355	HP:0002355	Difficulty walking	0	C12orf65 CL E G H	91574	615035	Spastic paraplegia 55, autosomal recessive	615035	C3539506	OMIM	1		26784	613541
HP:0002355	HP:0002355	Difficulty walking	0	C19orf12 CL E G H	83636	320370				ORPHA	1	307	25443	614297
HP:0002355	HP:0002355	Difficulty walking	0	CAPN3 CL E G H	825	267				ORPHA	1	1521	1480	114240
HP:0002355	HP:0002355	Difficulty walking	0	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1521	1480	114240
HP:0002355	HP:0002355	Difficulty walking	0	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1	157	12771	603400
HP:0002355	HP:0002355	Difficulty walking	0	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0002355	HP:0002355	Difficulty walking	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	297	15559	615903
HP:0002355	HP:0002355	Difficulty walking	0	CIZ1 CL E G H	25792	420492				ORPHA	1	352	16744	611420
HP:0002355	HP:0002355	Difficulty walking	0	COASY CL E G H	80347	397725				ORPHA	1	281	29932	609855
HP:0002355	HP:0002355	Difficulty walking	0	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0002355	HP:0002355	Difficulty walking	0	CPT1C CL E G H	126129	444099				ORPHA	1	239	18540	608846
HP:0002355	HP:0002355	Difficulty walking	0	CPT1C CL E G H	126129	616282	Spastic paraplegia 73, autosomal dominant	616282	C4225387	OMIM	1	239	18540	608846
HP:0002355	HP:0002355	Difficulty walking	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0002355	HP:0002355	Difficulty walking	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0002355	HP:0002355	Difficulty walking	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	630	2666	128239
HP:0002355	HP:0002355	Difficulty walking	0	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	1	439	19714	614603
HP:0002355	HP:0002355	Difficulty walking	0	DHTKD1 CL E G H	55526	615025	Charcot-Marie-Tooth disease, axonal, type 2Q	615025	C3554366	OMIM	1	674	23537	614984
HP:0002355	HP:0002355	Difficulty walking	0	DMD CL E G H	1756	98895				ORPHA	1	8184	2928	300377
HP:0002355	HP:0002355	Difficulty walking	0	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0002355	HP:0002355	Difficulty walking	0	DNM1 CL E G H	1759	616346	Epileptic encephalopathy, early infantile, 31	616346	C4225357	OMIM	1	765	2972	602377
HP:0002355	HP:0002355	Difficulty walking	0	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0002355	HP:0002355	Difficulty walking	0	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	208	3267	300161
HP:0002355	HP:0002355	Difficulty walking	0	ELOVL5 CL E G H	60481	423296				ORPHA	1	105	21308	611805
HP:0002355	HP:0002355	Difficulty walking	0	ERLIN1 CL E G H	10613	401785				ORPHA	1	136	16947	611604
HP:0002355	HP:0002355	Difficulty walking	0	ERLIN1 CL E G H	10613	615681	Spastic paraplegia 62, autosomal recessive	615681	C4284588	OMIM	1	136	16947	611604
HP:0002355	HP:0002355	Difficulty walking	0	ERLIN2 CL E G H	11160	209951				ORPHA	1	191	1356	611605
HP:0002355	HP:0002355	Difficulty walking	0	FA2H CL E G H	79152	171629				ORPHA	1	381	21197	611026
HP:0002355	HP:0002355	Difficulty walking	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	1	381	21197	611026
HP:0002355	HP:0002355	Difficulty walking	0	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	1	580	28844	608533
HP:0002355	HP:0002355	Difficulty walking	0	FGF14 CL E G H	2259	98764				ORPHA	1	251	3671	601515
HP:0002355	HP:0002355	Difficulty walking	0	FHL1 CL E G H	2273	300280	Uruguay faciocardiomusculoskeletal syndrome	300280	C1846010	OMIM	1	586	3702	300163
HP:0002355	HP:0002355	Difficulty walking	0	FKRP CL E G H	79147	370980				ORPHA	1	950	17997	606596
HP:0002355	HP:0002355	Difficulty walking	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0002355	HP:0002355	Difficulty walking	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0002355	HP:0002355	Difficulty walking	0	FKTN CL E G H	2218	370980				ORPHA	1	914	3622	607440
HP:0002355	HP:0002355	Difficulty walking	0	FLRT1 CL E G H	23769	320406				ORPHA	1	154	3760	604806
HP:0002355	HP:0002355	Difficulty walking	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	494	4082	600232
HP:0002355	HP:0002355	Difficulty walking	0	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0002355	HP:0002355	Difficulty walking	0	GBA2 CL E G H	57704	320391				ORPHA	1	355	18986	609471
HP:0002355	HP:0002355	Difficulty walking	0	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	1	860	4283	304040
HP:0002355	HP:0002355	Difficulty walking	0	GJC2 CL E G H	57165	320401				ORPHA	1	323	17494	608803
HP:0002355	HP:0002355	Difficulty walking	0	GOSR2 CL E G H	9570	614018	Epilepsy, progressive myoclonic 6	614018	C3279627	OMIM	1	320	4431	604027
HP:0002355	HP:0002355	Difficulty walking	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	1	109	18062	138210
HP:0002355	HP:0002355	Difficulty walking	0	GRID2 CL E G H	2895	363432				ORPHA	1	241	4576	602368
HP:0002355	HP:0002355	Difficulty walking	0	GYG1 CL E G H	2992	616199	Polyglucosan body myopathy 2	616199	C4015452	OMIM	1	273	4699	603942
HP:0002355	HP:0002355	Difficulty walking	0	HACE1 CL E G H	57531	464282				ORPHA	1	227	21033	610876
HP:0002355	HP:0002355	Difficulty walking	0	HK1 CL E G H	3098	605285	Neuropathy, hereditary motor and sensory, Russe type	605285	C1854449	OMIM	1	559	4922	142600
HP:0002355	HP:0002355	Difficulty walking	0	HPCA CL E G H	3208	99657				ORPHA	1	50	5144	142622
HP:0002355	HP:0002355	Difficulty walking	0	HSPB1 CL E G H	3315	608634	Distal hereditary motor neuronopathy type 2B	608634	C2608087	OMIM	1	366	5246	602195
HP:0002355	HP:0002355	Difficulty walking	0	HSPB3 CL E G H	8988	613376	Distal hereditary motor neuronopathy type 2C	613376	C3150619	OMIM	1	76	5248	604624
HP:0002355	HP:0002355	Difficulty walking	0	IBA57 CL E G H	200205	468661				ORPHA	1	271	27302	615316
HP:0002355	HP:0002355	Difficulty walking	0	IFIH1 CL E G H	64135	51				ORPHA	1	1170	18873	606951
HP:0002355	HP:0002355	Difficulty walking	0	ISPD CL E G H	729920	370980				ORPHA	1	733	37276	614631
HP:0002355	HP:0002355	Difficulty walking	0	KBTBD13 CL E G H	390594	171439				ORPHA	1	530	37227	613727
HP:0002355	HP:0002355	Difficulty walking	0	KCNC3 CL E G H	3748	98768				ORPHA	1	311	6235	176264
HP:0002355	HP:0002355	Difficulty walking	0	KCND3 CL E G H	3752	98772				ORPHA	1	467	6239	605411
HP:0002355	HP:0002355	Difficulty walking	0	KLC2 CL E G H	64837	320406				ORPHA	1	104	20716	611729
HP:0002355	HP:0002355	Difficulty walking	0	KLHL41 CL E G H	10324	171433				ORPHA	1	294	16905	607701
HP:0002355	HP:0002355	Difficulty walking	0	KLHL41 CL E G H	10324	171439				ORPHA	1	294	16905	607701
HP:0002355	HP:0002355	Difficulty walking	0	KLHL9 CL E G H	55958	399081				ORPHA	1	200	18732	611201
HP:0002355	HP:0002355	Difficulty walking	0	KY CL E G H	339855	617114	Myopathy, myofibrillar, 7	617114	C4310711	OMIM	1	113	26576	605739
HP:0002355	HP:0002355	Difficulty walking	0	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0002355	HP:0002355	Difficulty walking	0	MATR3 CL E G H	9782	600				ORPHA	1	450	6912	164015
HP:0002355	HP:0002355	Difficulty walking	0	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	1222	16877	608507
HP:0002355	HP:0002355	Difficulty walking	0	MICU1 CL E G H	10367	401768				ORPHA	1	265	1530	605084
HP:0002355	HP:0002355	Difficulty walking	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	1	265	1530	605084
HP:0002355	HP:0002355	Difficulty walking	0	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0002355	HP:0002355	Difficulty walking	0	MSTO1 CL E G H	55154	502423				ORPHA	1	158	29678	617619
HP:0002355	HP:0002355	Difficulty walking	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	158	29678	617619
HP:0002355	HP:0002355	Difficulty walking	0	MT-ATP6 CL E G H	4508	320360				ORPHA	1		7414	516060
HP:0002355	HP:0002355	Difficulty walking	0	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0002355	HP:0002355	Difficulty walking	0	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0002355	HP:0002355	Difficulty walking	0	MYH7 CL E G H	4625	437572				ORPHA	1	4106	7577	160760
HP:0002355	HP:0002355	Difficulty walking	0	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0002355	HP:0002355	Difficulty walking	0	MYOT CL E G H	9499	98911				ORPHA	1	372	12399	604103
HP:0002355	HP:0002355	Difficulty walking	0	MYPN CL E G H	84665	171439				ORPHA	1	1485	23246	608517
HP:0002355	HP:0002355	Difficulty walking	0	NACC1 CL E G H	112939	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	617393	C4479333	OMIM	1	341	20967	610672
HP:0002355	HP:0002355	Difficulty walking	0	NDUFS8 CL E G H	4728	618222	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2	618222		OMIM	1	129	7715	602141
HP:0002355	HP:0002355	Difficulty walking	0	NEB CL E G H	4703	171439				ORPHA	1	8530	7720	161650
HP:0002355	HP:0002355	Difficulty walking	0	NEB CL E G H	4703	171433				ORPHA	1	8530	7720	161650
HP:0002355	HP:0002355	Difficulty walking	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	317	11825	600635
HP:0002355	HP:0002355	Difficulty walking	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	233	19321	605955
HP:0002355	HP:0002355	Difficulty walking	0	NOP56 CL E G H	10528	276198				ORPHA	1	67	15911	614154
HP:0002355	HP:0002355	Difficulty walking	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	284	20278	613621
HP:0002355	HP:0002355	Difficulty walking	0	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	326	25896	610277
HP:0002355	HP:0002355	Difficulty walking	0	PEX6 CL E G H	5190	95433				ORPHA	1	1458	8859	601498
HP:0002355	HP:0002355	Difficulty walking	0	PGAP1 CL E G H	80055	401820				ORPHA	1	379	25712	611655
HP:0002355	HP:0002355	Difficulty walking	0	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0002355	HP:0002355	Difficulty walking	0	PMP2 CL E G H	5375	618279	618279	618279		OMIM	1	126	9117	170715
HP:0002355	HP:0002355	Difficulty walking	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0002355	HP:0002355	Difficulty walking	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0002355	HP:0002355	Difficulty walking	0	POMT1 CL E G H	10585	86812				ORPHA	1	906	9202	607423
HP:0002355	HP:0002355	Difficulty walking	0	POMT1 CL E G H	10585	370980				ORPHA	1	906	9202	607423
HP:0002355	HP:0002355	Difficulty walking	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0002355	HP:0002355	Difficulty walking	0	PRX CL E G H	57716	614895	Charcot-Marie-Tooth disease, demyelinating, type 4f	614895	C3540453	OMIM	1	1243	13797	605725
HP:0002355	HP:0002355	Difficulty walking	0	PSAP CL E G H	5660	309271				ORPHA	1	772	9498	176801
HP:0002355	HP:0002355	Difficulty walking	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	161	9761	604198
HP:0002355	HP:0002355	Difficulty walking	0	RARS CL E G H	5917	438114				ORPHA	1		9870	107820
HP:0002355	HP:0002355	Difficulty walking	0	REEP1 CL E G H	65055	101011				ORPHA	1	434	25786	609139
HP:0002355	HP:0002355	Difficulty walking	0	RNASEH2A CL E G H	10535	51				ORPHA	1	404	18518	606034
HP:0002355	HP:0002355	Difficulty walking	0	RNASEH2B CL E G H	79621	51				ORPHA	1	426	25671	610326
HP:0002355	HP:0002355	Difficulty walking	0	RNASEH2C CL E G H	84153	51				ORPHA	1	307	24116	610330
HP:0002355	HP:0002355	Difficulty walking	0	RNU12 CL E G H	267010	512260				ORPHA	1	17	19380	0
HP:0002355	HP:0002355	Difficulty walking	0	RTN2 CL E G H	6253	100993				ORPHA	1	245	10468	603183
HP:0002355	HP:0002355	Difficulty walking	0	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0002355	HP:0002355	Difficulty walking	0	SACS CL E G H	26278	98				ORPHA	1	3377	10519	604490
HP:0002355	HP:0002355	Difficulty walking	0	SAMHD1 CL E G H	25939	51				ORPHA	1	746	15925	606754
HP:0002355	HP:0002355	Difficulty walking	0	SBF2 CL E G H	81846	604563	Charcot-Marie-Tooth disease, type 4B2	604563	C1858278	OMIM	1	1456	2135	607697
HP:0002355	HP:0002355	Difficulty walking	0	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	1	1556	445	608465
HP:0002355	HP:0002355	Difficulty walking	0	SGCB CL E G H	6443	119				ORPHA	1	500	10806	600900
HP:0002355	HP:0002355	Difficulty walking	0	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	673	10807	601411
HP:0002355	HP:0002355	Difficulty walking	0	SH3TC2 CL E G H	79628	601596	Charcot-Marie-Tooth disease, type 4C	601596	C1866636	OMIM	1	1674	29427	608206
HP:0002355	HP:0002355	Difficulty walking	0	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0002355	HP:0002355	Difficulty walking	0	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0002355	HP:0002355	Difficulty walking	0	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0002355	HP:0002355	Difficulty walking	0	SLC25A19 CL E G H	60386	613710	Striatal necrosis, bilateral, and progressive polyneuropathy	613710	C3150973	OMIM	1	182	14409	606521
HP:0002355	HP:0002355	Difficulty walking	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	275	25355	611146
HP:0002355	HP:0002355	Difficulty walking	0	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0002355	HP:0002355	Difficulty walking	0	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0002355	HP:0002355	Difficulty walking	0	SLC52A2 CL E G H	79581	95433				ORPHA	1	520	30224	607882
HP:0002355	HP:0002355	Difficulty walking	0	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0002355	HP:0002355	Difficulty walking	0	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	455	14025	608761
HP:0002355	HP:0002355	Difficulty walking	0	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0002355	HP:0002355	Difficulty walking	0	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0002355	HP:0002355	Difficulty walking	0	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	353	18514	607111
HP:0002355	HP:0002355	Difficulty walking	0	SPG21 CL E G H	51324	101001				ORPHA	1	162	20373	608181
HP:0002355	HP:0002355	Difficulty walking	0	STRADA CL E G H	92335	611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	611087	C1970203	OMIM	1	340	30172	608626
HP:0002355	HP:0002355	Difficulty walking	0	STUB1 CL E G H	10273	412057				ORPHA	1	226	11427	607207
HP:0002355	HP:0002355	Difficulty walking	0	SURF1 CL E G H	6834	616684	Charcot-Marie-Tooth disease, type 4k	616684	C4225246	OMIM	1	532	11474	185620
HP:0002355	HP:0002355	Difficulty walking	0	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0002355	HP:0002355	Difficulty walking	0	TBC1D23 CL E G H	55773	617695	PONTOCEREBELLAR HYPOPLASIA, TYPE 11	617695	C4540164	OMIM	1	90	25622	617687
HP:0002355	HP:0002355	Difficulty walking	0	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	298	11610	604488
HP:0002355	HP:0002355	Difficulty walking	0	TGM6 CL E G H	343641	276193				ORPHA	1	393	16255	613900
HP:0002355	HP:0002355	Difficulty walking	0	TGM6 CL E G H	343641	613908	Spinocerebellar ataxia 35	613908	C3888031	OMIM	1	393	16255	613900
HP:0002355	HP:0002355	Difficulty walking	0	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0002355	HP:0002355	Difficulty walking	0	TPM2 CL E G H	7169	171439				ORPHA	1	341	12011	190990
HP:0002355	HP:0002355	Difficulty walking	0	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	341	12011	190990
HP:0002355	HP:0002355	Difficulty walking	0	TPM3 CL E G H	7170	171433				ORPHA	1	343	12012	191030
HP:0002355	HP:0002355	Difficulty walking	0	TPM3 CL E G H	7170	171439				ORPHA	1	343	12012	191030
HP:0002355	HP:0002355	Difficulty walking	0	TPP1 CL E G H	1200	284324				ORPHA	1	1023	2073	607998
HP:0002355	HP:0002355	Difficulty walking	0	TRAPPC11 CL E G H	60684	369847				ORPHA	1	983	25751	614138
HP:0002355	HP:0002355	Difficulty walking	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0002355	HP:0002355	Difficulty walking	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0002355	HP:0002355	Difficulty walking	0	TREX1 CL E G H	11277	51				ORPHA	1	418	12269	606609
HP:0002355	HP:0002355	Difficulty walking	0	TTBK2 CL E G H	146057	98767				ORPHA	1	338	19141	611695
HP:0002355	HP:0002355	Difficulty walking	0	TTN CL E G H	7273	609	Alopecia immunodeficiency			ORPHA	1	27503	12403	188840
HP:0002355	HP:0002355	Difficulty walking	0	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0002355	HP:0002355	Difficulty walking	0	VAMP1 CL E G H	6843	251282				ORPHA	1	141	12642	185880
HP:0002355	HP:0002355	Difficulty walking	0	VCP CL E G H	7415	329478				ORPHA	1	607	12666	601023
HP:0002355	HP:0002355	Difficulty walking	0	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0002355	HP:0002355	Difficulty walking	0	WASHC5 CL E G H	9897	100989				ORPHA	1	638	28984	610657
HP:0002355	HP:0002355	Difficulty walking	0	WDR48 CL E G H	57599	401800				ORPHA	1	22	30914	612167
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002355	HP:0002355	Difficulty walking	0	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0002355	HP:0002355	Difficulty walking	0	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0002355	HP:0002355	Difficulty walking	0	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0002355	HP:0002355	Difficulty walking	0	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0002355	HP:0002355	Difficulty walking	0	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0002355	HP:0002355	Difficulty walking	0	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0002355	HP:0002355	Difficulty walking	0	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0002355	HP:0002355	Difficulty walking	0	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0002355	HP:0002355	Difficulty walking	0	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0002355	HP:0002355	Difficulty walking	0	CRYAB CL E G H	1410	399058				ORPHA	0	273	2389	123590
HP:0002355	HP:0002355	Difficulty walking	0	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0002355	HP:0002355	Difficulty walking	0	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0002355	HP:0002355	Difficulty walking	0	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0002355	HP:0002355	Difficulty walking	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0002355	HP:0002355	Difficulty walking	0	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0002355	HP:0002355	Difficulty walking	0	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0002355	HP:0002355	Difficulty walking	0	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0002355	HP:0002355	Difficulty walking	0	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0002355	HP:0002355	Difficulty walking	0	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0002355	HP:0002355	Difficulty walking	0	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0002355	HP:0002355	Difficulty walking	0	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0002355	HP:0002355	Difficulty walking	0	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0002355	HP:0002355	Difficulty walking	0	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0002355	HP:0002355	Difficulty walking	0	LMNA CL E G H	4000	264				ORPHA	0	1814	6636	150330
HP:0002355	HP:0002355	Difficulty walking	0	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0002355	HP:0002355	Difficulty walking	0	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0002355	HP:0002355	Difficulty walking	0	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0002355	HP:0002355	Difficulty walking	0	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0002355	HP:0002355	Difficulty walking	0	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0002355	HP:0002355	Difficulty walking	0	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0002355	HP:0002355	Difficulty walking	0	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0002355	HP:0002355	Difficulty walking	0	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0002355	HP:0002355	Difficulty walking	0	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0002355	HP:0002355	Difficulty walking	0	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0002355	HP:0002355	Difficulty walking	0	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0002355	HP:0002355	Difficulty walking	0	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0002355	HP:0002355	Difficulty walking	0	TAF1 CL E G H	6872	53351				ORPHA	0	534	11535	313650
HP:0002355	HP:0002355	Difficulty walking	0	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0002355	HP:0002355	Difficulty walking	0	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0002355	HP:0002355	Difficulty walking	0	VCP CL E G H	7415	435387				ORPHA	0	607	12666	601023
HP:0002355	HP:0002355	Difficulty walking	0	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0002355	HP:0002355	Difficulty walking	0	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356