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:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040283 - Occasional	103
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.	18
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent	173
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040283 - Occasional	745
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040281 - Very frequent	65
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0012548	HP:0012548	Fatty replacement of skeletal muscle	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63