Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0006279 | Beta-cell dysfunction | 2 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0006279 | Beta-cell dysfunction | 2 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0006279 | Beta-cell dysfunction | 2 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:0006279 | Beta-cell dysfunction | 2 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:4000061 | Pancreatic alpha-cell hyperplasia | 3 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 3 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0031223 | Focal pancreatic islet hyperplasia | 3 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0012197 | Insulinoma | 3 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0031224 | Diffuse pancreatic islet hyperplasia | 3 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 0 | | 67 | 15598 | 606464 |
HP:0012093 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 3 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:4000061 | Pancreatic alpha-cell hyperplasia | 3 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0012197 | Insulinoma | 3 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0031223 | Focal pancreatic islet hyperplasia | 3 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0031224 | Diffuse pancreatic islet hyperplasia | 3 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 0 | | 470 | 4887 | 608374 |
HP:0012093 | HP:0031224 | Diffuse pancreatic islet hyperplasia | 3 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 3 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:4000061 | Pancreatic alpha-cell hyperplasia | 3 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0012197 | Insulinoma | 3 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0031223 | Focal pancreatic islet hyperplasia | 3 | HNF1B CL E G H | 6928 | 93111 | | | | ORPHA | 0 | | 697 | 11630 | 189907 |
HP:0012093 | HP:0012197 | Insulinoma | 3 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:0031223 | Focal pancreatic islet hyperplasia | 3 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:0031224 | Diffuse pancreatic islet hyperplasia | 3 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 3 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |
HP:0012093 | HP:4000061 | Pancreatic alpha-cell hyperplasia | 3 | HNF4A CL E G H | 3172 | 93111 | | | | ORPHA | 0 | | 509 | 5024 | 600281 |