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:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | | | | 95 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | | | | 95 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | | | | 102 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | | | | 50 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | | | | 101 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | | | | 101 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300943 | PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2 | | | | 5 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | | | | 91 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | | | | 462 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | | | | 41 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | | | | 134 | | |
HP:0032367 | HP:0032367 | Abnormal growth hormone level | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | . | | | 95 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 95 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 95 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 636 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | . | | | 102 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0032367 | HP:0034323 | Reduced circulating growth hormone concentration | 1 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | | | | 50 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | GPR101 CL E G H | 83550 | 14963 | OMIM:300943 | PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2 | | | | 5 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | | | | 91 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 462 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0032367 | HP:0034323 | Reduced circulating growth hormone concentration | 1 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | | | | 41 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 13 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0032367 | HP:0034323 | Reduced circulating growth hormone concentration | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 134 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | . | | | 134 | | |
HP:0032367 | HP:0000845 | Elevated circulating growth hormone concentration | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 13 | | |