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:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 245 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | INS CL E G H | 3630 | 6081 | OMIM:613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | | | | 62 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 127 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0001953 | HP:0001953 | Diabetic ketoacidosis | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 30 | | |