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:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | | | | 112 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:310468 | Nephrolithiasis, type I | . | | | 112 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:308990 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | | | | 112 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | EHHADH CL E G H | 1962 | 3247 | OMIM:615605 | Fanconi renotubular syndrome 3 | | | | 2 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0003126 | HP:0003126 | Low-molecular-weight proteinuria | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 47 | | |