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:0003199	HP:0003199	Decreased muscle mass	0	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	758	391	164730
HP:0003199	HP:0003199	Decreased muscle mass	0	ALS2 CL E G H	57679	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	947	443	606352
HP:0003199	HP:0003199	Decreased muscle mass	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	509	573	607244
HP:0003199	HP:0003199	Decreased muscle mass	0	ASAH1 CL E G H	427	333				ORPHA	1	913	735	613468
HP:0003199	HP:0003199	Decreased muscle mass	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	610	18481	611716
HP:0003199	HP:0003199	Decreased muscle mass	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	610	18481	611716
HP:0003199	HP:0003199	Decreased muscle mass	0	ATP6V1A CL E G H	523	357074				ORPHA	1	229	851	607027
HP:0003199	HP:0003199	Decreased muscle mass	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	196	857	108746
HP:0003199	HP:0003199	Decreased muscle mass	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0003199	HP:0003199	Decreased muscle mass	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003199	HP:0003199	Decreased muscle mass	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0003199	HP:0003199	Decreased muscle mass	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0003199	HP:0003199	Decreased muscle mass	0	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0003199	HP:0003199	Decreased muscle mass	0	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	6619	3603	134797
HP:0003199	HP:0003199	Decreased muscle mass	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0003199	HP:0003199	Decreased muscle mass	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	4006	612280
HP:0003199	HP:0003199	Decreased muscle mass	0	FUS CL E G H	2521	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	474	4010	137070
HP:0003199	HP:0003199	Decreased muscle mass	0	FUZ CL E G H	80199	3027	Iris dysplasia hypertelorism deafness			ORPHA	1	57	26219	610622
HP:0003199	HP:0003199	Decreased muscle mass	0	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1		4056	613742
HP:0003199	HP:0003199	Decreased muscle mass	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0003199	HP:0003199	Decreased muscle mass	0	GYG1 CL E G H	2992	263297				ORPHA	1	273	4699	603942
HP:0003199	HP:0003199	Decreased muscle mass	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	936	4868	605837
HP:0003199	HP:0003199	Decreased muscle mass	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	983	5213	601860
HP:0003199	HP:0003199	Decreased muscle mass	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	302	6109	601491
HP:0003199	HP:0003199	Decreased muscle mass	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	283	25726	300964
HP:0003199	HP:0003199	Decreased muscle mass	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0003199	HP:0003199	Decreased muscle mass	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	1013	6814	605283
HP:0003199	HP:0003199	Decreased muscle mass	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	357	7114	603856
HP:0003199	HP:0003199	Decreased muscle mass	0	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		12910	603857
HP:0003199	HP:0003199	Decreased muscle mass	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	328	7675	602117
HP:0003199	HP:0003199	Decreased muscle mass	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	387	1190	610922
HP:0003199	HP:0003199	Decreased muscle mass	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0003199	HP:0003199	Decreased muscle mass	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0003199	HP:0003199	Decreased muscle mass	0	PIEZO2 CL E G H	63895	376				ORPHA	1	978	26270	613629
HP:0003199	HP:0003199	Decreased muscle mass	0	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0003199	HP:0003199	Decreased muscle mass	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0003199	HP:0003199	Decreased muscle mass	0	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0003199	HP:0003199	Decreased muscle mass	0	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	1	3012	9588	601728
HP:0003199	HP:0003199	Decreased muscle mass	0	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	303	30089	600161
HP:0003199	HP:0003199	Decreased muscle mass	0	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	314	33235	611215
HP:0003199	HP:0003199	Decreased muscle mass	0	RUSC2 CL E G H	9853	617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	617773	C4540424	OMIM	1	824	23625	611053
HP:0003199	HP:0003199	Decreased muscle mass	0	SIGMAR1 CL E G H	10280	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	247	8157	601978
HP:0003199	HP:0003199	Decreased muscle mass	0	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	294	11123	300105
HP:0003199	HP:0003199	Decreased muscle mass	0	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33020	609837
HP:0003199	HP:0003199	Decreased muscle mass	0	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33067	605436
HP:0003199	HP:0003199	Decreased muscle mass	0	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	396	11164	182279
HP:0003199	HP:0003199	Decreased muscle mass	0	SPARC CL E G H	6678	616507	Osteogenesis imperfecta, type xvii	616507	C4225301	OMIM	1	168	11219	182120
HP:0003199	HP:0003199	Decreased muscle mass	0	SPG11 CL E G H	80208	300605	Juvenile amyotrophic lateral sclerosis		CN239582	ORPHA	1	2625	11226	610844
HP:0003199	HP:0003199	Decreased muscle mass	0	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0003199	HP:0003199	Decreased muscle mass	0	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	1	551	11769	190230
HP:0003199	HP:0003199	Decreased muscle mass	0	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	404	15974	614141
HP:0003199	HP:0003199	Decreased muscle mass	0	VANGL1 CL E G H	81839	3027	Iris dysplasia hypertelorism deafness			ORPHA	1	278	15512	610132
HP:0003199	HP:0003199	Decreased muscle mass	0	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003199	HP:0003199	Decreased muscle mass	0	FSHB CL E G H	2488	229070	Follicle-stimulating hormone deficiency, isolated	229070	C1856716	OMIM	0	71	3964	136530
HP:0003199	HP:0003199	Decreased muscle mass	0	MAP3K7 CL E G H	6885	617137	Frontometaphyseal dysplasia 2	617137	C4310697	OMIM	0	235	6859	602614
HP:0003199	HP:0003199	Decreased muscle mass	0	MECP2 CL E G H	4204	778				ORPHA	0	1925	6990	300005
HP:0003199	HP:0003199	Decreased muscle mass	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	0	2324	9179	174763
HP:0003199	HP:0003199	Decreased muscle mass	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	0	354	17296	604712
HP:0003199	HP:0003199	Decreased muscle mass	0	SLC9A6 CL E G H	10479	85278				ORPHA	0	612	11079	300231
HP:0003199	HP:0003199	Decreased muscle mass	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	0	895	3148	131222