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:0009806 | HP:0009806 | Nephrogenic diabetes insipidus | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0009806 | HP:0009806 | Nephrogenic diabetes insipidus | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040280 - Obligate | | | 75 | | |
HP:0009806 | HP:0009806 | Nephrogenic diabetes insipidus | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0009806 | HP:0009806 | Nephrogenic diabetes insipidus | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040280 - Obligate | | | 67 | | |
HP:0009806 | HP:0009806 | Nephrogenic diabetes insipidus | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0009806 | HP:0009806 | Nephrogenic diabetes insipidus | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0009806 | HP:0009806 | Nephrogenic diabetes insipidus | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | HP:0040283 - Occasional | | | 27 | | |
HP:0009806 | HP:0009806 | Nephrogenic diabetes insipidus | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | HP:0040283 - Occasional | | | 63 | | |