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: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:0500144 | Hypoisoleucinemia | 2 | CL E G H | | | | | | | | | | |
HP:0010892 | HP:0500143 | Hypoleucinemia | 2 | CL E G H | | | | | | | | | | |
HP:0010892 | HP:0500132 | Hypovalinemia | 2 | CL E G H | | | | | | | | | | |
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 | 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: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 | | |