Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | CD320 CL E G H | 51293 | 16692 | OMIM:613646 | METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | | | | 16 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | | | | 46 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | 101 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | | | | 50 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:236250 | Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity | | | | 183 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | | | | 183 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | | | | 217 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | | | | 88 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | | | | 88 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | | | |
HP:0010919 | HP:0010919 | Abnormal circulating homocysteine concentration | 0 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | . | | | 53 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | CD320 CL E G H | 51293 | 16692 | OMIM:613646 | METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | | | | 16 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | HP:0040281 - Very frequent | | | 46 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040281 - Very frequent | | | 101 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | MTHFR CL E G H | 4524 | 7436 | OMIM:236250 | Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity | . | | | 183 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040281 - Very frequent | | | 183 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | . | | | 217 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | . | | | 88 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040281 - Very frequent | | | 88 | | |
HP:0010919 | HP:0020222 | Hypohomocysteinemia | 1 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0010919 | HP:0002160 | Hyperhomocystinemia | 1 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |