Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0031080 | HP:0031080 | Abnormal response to glucagon stimulation test | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0031080 | HP:0031080 | Abnormal response to glucagon stimulation test | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | | | | 161 | | |
HP:0031080 | HP:0031080 | Abnormal response to glucagon stimulation test | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0031080 | HP:0031080 | Abnormal response to glucagon stimulation test | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0031080 | HP:0031080 | Abnormal response to glucagon stimulation test | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0031080 | HP:0031080 | Abnormal response to glucagon stimulation test | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0031080 | HP:0031081 | Impaired cortisol response to glucagon stimulation test | 1 | CL E G H | | | | | | | | | | |
HP:0031080 | HP:0031084 | Excessive insulin response to glucagon test | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040281 - Very frequent | | | 245 | | |
HP:0031080 | HP:0031084 | Excessive insulin response to glucagon test | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040281 - Very frequent | | | 161 | | |
HP:0031080 | HP:0031084 | Excessive insulin response to glucagon test | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0031080 | HP:0031082 | Impaired growth-hormone response to glucagon stimulation test | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0031080 | HP:0031084 | Excessive insulin response to glucagon test | 1 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040281 - Very frequent | | | 15 | | |