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:0012101 | HP:0012101 | Decreased serum creatinine | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | . | | | 67 | | |
HP:0012101 | HP:0012101 | Decreased serum creatinine | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0012101 | HP:0012101 | Decreased serum creatinine | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0012101 | HP:0012101 | Decreased serum creatinine | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0012101 | HP:0012101 | Decreased serum creatinine | 0 | NT5E CL E G H | 4907 | 8021 | ORPHA:289601 | Hereditary arterial and articular multiple calcification syndrome | HP:0040282 - Frequent | | | 3 | | |