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:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0008261 | HP:0008261 | Pancreatic islet cell adenoma | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0008261 | HP:0012197 | Insulinoma | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0008261 | HP:0012197 | Insulinoma | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0008261 | HP:0012197 | Insulinoma | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0008261 | HP:0012197 | Insulinoma | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0008261 | HP:0012197 | Insulinoma | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0008261 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0008261 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 1 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | . | | | | | |
HP:0008261 | HP:0012197 | Insulinoma | 1 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0008261 | HP:0012197 | Insulinoma | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0008261 | HP:0012197 | Insulinoma | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |