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:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease		120
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease		162
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	BCKDK CL E G H	10295	16902	OMIM:614923	Branched-Chain ketoacid dehydrogenase kinase deficiency	HP:0040280 - Obligate	28
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease		156
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency		81
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency		77
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0010892	HP:0010892	Abnormal circulating branched chain amino acid concentration	0	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1
HP:0010892	HP:0004357	Abnormal circulating leucine concentration	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010892	HP:0010912	Abnormal circulating isoleucine concentration	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010892	HP:0010914	Abnormal circulating valine concentration	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010892	HP:0008344	Elevated plasma branched chain amino acids	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0010892	HP:0008344	Elevated plasma branched chain amino acids	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0010892	HP:0008344	Elevated plasma branched chain amino acids	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0010892	HP:0010912	Abnormal circulating isoleucine concentration	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0010892	HP:0008344	Elevated plasma branched chain amino acids	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent	89
HP:0010892	HP:0004357	Abnormal circulating leucine concentration	1	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040281 - Very frequent	81
HP:0010892	HP:0004357	Abnormal circulating leucine concentration	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0010892	HP:0004357	Abnormal circulating leucine concentration	1	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040281 - Very frequent	77
HP:0010892	HP:0010914	Abnormal circulating valine concentration	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0010892	HP:0004357	Abnormal circulating leucine concentration	1	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1
HP:0010892	HP:0010912	Abnormal circulating isoleucine concentration	1	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1
HP:0010892	HP:0500143	Hypoleucinemia	2	CL E G H
HP:0010892	HP:0500132	Hypovalinemia	2	CL E G H
HP:0010892	HP:0500144	Hypoisoleucinemia	2	CL E G H
HP:0010892	HP:0010913	Hyperisoleucinemia	2	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010892	HP:0010910	Hypervalinemia	2	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010892	HP:0010911	Hyperleucinemia	2	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0010892	HP:0010913	Hyperisoleucinemia	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0010892	HP:0010911	Hyperleucinemia	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0010892	HP:0010910	Hypervalinemia	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0010892	HP:0010911	Hyperleucinemia	2	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1
HP:0010892	HP:0010913	Hyperisoleucinemia	2	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1