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:0009058	HP:0009058	Increased muscle lipid content	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0009058	HP:0009058	Increased muscle lipid content	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0009058	HP:0009058	Increased muscle lipid content	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0009058	HP:0009058	Increased muscle lipid content	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0009058	HP:0009058	Increased muscle lipid content	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0009058	HP:0009058	Increased muscle lipid content	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0009058	HP:0009058	Increased muscle lipid content	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0009058	HP:0009058	Increased muscle lipid content	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0009058	HP:0009058	Increased muscle lipid content	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0009058	HP:0009058	Increased muscle lipid content	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0009058	HP:0009058	Increased muscle lipid content	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0009058	HP:0009058	Increased muscle lipid content	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4		136
HP:0009058	HP:0009058	Increased muscle lipid content	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0009058	HP:0009058	Increased muscle lipid content	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0009058	HP:0009058	Increased muscle lipid content	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0009058	HP:0009058	Increased muscle lipid content	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0009058	HP:0009058	Increased muscle lipid content	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0009058	HP:0009058	Increased muscle lipid content	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0009058	HP:0009058	Increased muscle lipid content	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0009058	HP:0009058	Increased muscle lipid content	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0009058	HP:0009058	Increased muscle lipid content	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0009058	HP:0009058	Increased muscle lipid content	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0009058	HP:0009058	Increased muscle lipid content	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0009058	HP:0009058	Increased muscle lipid content	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0009058	HP:0009058	Increased muscle lipid content	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0009058	HP:0009058	Increased muscle lipid content	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0009058	HP:0009058	Increased muscle lipid content	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0009058	HP:0009058	Increased muscle lipid content	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0009058	HP:0009058	Increased muscle lipid content	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0009058	HP:0009058	Increased muscle lipid content	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040281 - Very frequent	65
HP:0009058	HP:0009058	Increased muscle lipid content	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0009058	HP:0009058	Increased muscle lipid content	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0009058	HP:0009058	Increased muscle lipid content	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0009058	HP:0009058	Increased muscle lipid content	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0009058	HP:0009058	Increased muscle lipid content	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0009058	HP:0009058	Increased muscle lipid content	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0009058	HP:0009058	Increased muscle lipid content	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0009058	HP:0009058	Increased muscle lipid content	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent	101
HP:0009058	HP:0009058	Increased muscle lipid content	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent
HP:0009058	HP:0009058	Increased muscle lipid content	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0009058	HP:0009058	Increased muscle lipid content	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0009058	HP:0009058	Increased muscle lipid content	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0009058	HP:0009058	Increased muscle lipid content	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0009058	HP:0009058	Increased muscle lipid content	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	247
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.	136
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	73
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040281 - Very frequent	65
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0009058	HP:0012240	Increased intramyocellular lipid droplets	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.