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:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | HP:0040281 - Very frequent | | | 107 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | . | | | 71 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:613388 | Fanconi renotubular syndrome 2 | . | | | 47 | | |
HP:0002909 | HP:0002909 | Generalized aminoaciduria | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 47 | | |