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:0031075 | HP:0031075 | Abnormal response to insulin tolerance test | 0 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0031075 | HP:0031075 | Abnormal response to insulin tolerance test | 0 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | | | | 43 | | |
HP:0031075 | HP:0031075 | Abnormal response to insulin tolerance test | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0031075 | HP:0031075 | Abnormal response to insulin tolerance test | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0031075 | HP:0031075 | Abnormal response to insulin tolerance test | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0031075 | HP:0031075 | Abnormal response to insulin tolerance test | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0031075 | HP:0031075 | Abnormal response to insulin tolerance test | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0031075 | HP:0031075 | Abnormal response to insulin tolerance test | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0031075 | HP:0031079 | Impaired growth-hormone response to insulin stimulation test | 1 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0031075 | HP:0031079 | Impaired growth-hormone response to insulin stimulation test | 1 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | | | | 43 | | |
HP:0031075 | HP:0031076 | Impaired cortisol response to insulin stimulation test | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 94 | | |
HP:0031075 | HP:0031076 | Impaired cortisol response to insulin stimulation test | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0031075 | HP:0031076 | Impaired cortisol response to insulin stimulation test | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 13 | | |
HP:0031075 | HP:0031079 | Impaired growth-hormone response to insulin stimulation test | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0031075 | HP:0031076 | Impaired cortisol response to insulin stimulation test | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 45 | | |
HP:0031075 | HP:0031076 | Impaired cortisol response to insulin stimulation test | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 85 | | |