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:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | . | | | 95 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 95 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040284 - Very rare | | | | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040284 - Very rare | | | 93 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040284 - Very rare | | | 5 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040284 - Very rare | | | | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040284 - Very rare | | | 6 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040284 - Very rare | | | 148 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 462 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 13 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040284 - Very rare | | | 342 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040284 - Very rare | | | 106 | | |
HP:0011760 | HP:0011760 | Pituitary growth hormone cell adenoma | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 134 | | |