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:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY		31
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY		3
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY		82
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity		183
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0004339	HP:0004339	Abnormal circulating sulfur amino acid concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0004339	HP:0010918	Abnormal circulating cysteine concentration	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY		31
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040281 - Very frequent	31
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040281 - Very frequent	31
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY		3
HP:0004339	HP:0010918	Abnormal circulating cysteine concentration	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY		82
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity		183
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0004339	HP:0010918	Abnormal circulating cysteine concentration	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0004339	HP:0010919	Abnormal circulating homocysteine concentration	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0004339	HP:0010901	Abnormal circulating methionine concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0004339	HP:0500151	Hypercystinemia	2	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0004339	HP:0003658	Hypomethioninemia	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004339	HP:0002160	Hyperhomocystinemia	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0004339	HP:0003235	Hypermethioninemia	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0004339	HP:0003235	Hypermethioninemia	2	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.	31
HP:0004339	HP:0003235	Hypermethioninemia	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional	31
HP:0004339	HP:0002160	Hyperhomocystinemia	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040281 - Very frequent	31
HP:0004339	HP:0002160	Hyperhomocystinemia	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0004339	HP:0003235	Hypermethioninemia	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0004339	HP:0002160	Hyperhomocystinemia	2	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0004339	HP:0003235	Hypermethioninemia	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0004339	HP:0003235	Hypermethioninemia	2	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	.	3
HP:0004339	HP:0500152	Hypocystinemia	2	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0004339	HP:0002160	Hyperhomocystinemia	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0004339	HP:0002160	Hyperhomocystinemia	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0004339	HP:0003235	Hypermethioninemia	2	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.	82
HP:0004339	HP:0002160	Hyperhomocystinemia	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101
HP:0004339	HP:0003658	Hypomethioninemia	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0004339	HP:0003658	Hypomethioninemia	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004339	HP:0002160	Hyperhomocystinemia	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004339	HP:0002160	Hyperhomocystinemia	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0004339	HP:0003658	Hypomethioninemia	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0004339	HP:0002160	Hyperhomocystinemia	2	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity	.	183
HP:0004339	HP:0002160	Hyperhomocystinemia	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040281 - Very frequent	183
HP:0004339	HP:0003658	Hypomethioninemia	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040282 - Frequent	183
HP:0004339	HP:0002160	Hyperhomocystinemia	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0004339	HP:0003658	Hypomethioninemia	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0004339	HP:0003658	Hypomethioninemia	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0004339	HP:0002160	Hyperhomocystinemia	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0004339	HP:0003658	Hypomethioninemia	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0004339	HP:0002160	Hyperhomocystinemia	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040281 - Very frequent	88
HP:0004339	HP:0020222	Hypohomocysteinemia	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0004339	HP:0500152	Hypocystinemia	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0004339	HP:0002160	Hyperhomocystinemia	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004339	HP:0003658	Hypomethioninemia	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004339	HP:0003235	Hypermethioninemia	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0004339	HP:0002160	Hyperhomocystinemia	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0004339	HP:0003235	Hypermethioninemia	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0004339	HP:0003235	Hypermethioninemia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82