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:0003537 | HP:0003537 | Hypouricemia | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | . | | | 18 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | . | | | 138 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | . | | | 4 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | HP:0040282 - Frequent | | | 49 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040280 - Obligate | | | 56 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | . | | | 56 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | . | | | 71 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040280 - Obligate | | | 57 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | SLC2A9 CL E G H | 56606 | 13446 | OMIM:612076 | Hypouricemia, renal, 2 | | | | 57 | | |
HP:0003537 | HP:0003537 | Hypouricemia | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 47 | | |