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:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | | | | 245 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 245 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | | | | 164 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 237 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | HAMP CL E G H | 57817 | 15598 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040283 - Occasional | | | 15 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | HJV CL E G H | 148738 | 4887 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040283 - Occasional | | | | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | | | | 138 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 62 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | | | | 127 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 127 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | | | | 462 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612227 | Diabetes mellitus, ketosis-prone | | | | 55 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 30 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | | | | 74 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 110 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0012093 | HP:0012093 | Abnormality of endocrine pancreas physiology | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | | | | 7 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | | | | 245 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 245 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | | | | 164 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 237 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | | | | 138 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 62 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | | | | 127 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 127 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | PAX4 CL E G H | 5078 | 8618 | OMIM:612227 | Diabetes mellitus, ketosis-prone | | | | 55 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 30 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | | | | 74 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 110 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0012093 | HP:0006476 | Abnormality of the pancreatic islet cells | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | . | | | 245 | | |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 245 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 237 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 62 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | . | | | 127 | | |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 127 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0012093 | HP:0006279 | Beta-cell dysfunction | 2 | PAX4 CL E G H | 5078 | 8618 | OMIM:612227 | Diabetes mellitus, ketosis-prone | . | | | 55 | | |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 30 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | | | | 74 | | |
HP:0012093 | HP:0006274 | Reduced pancreatic beta cells | 2 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 110 | | |
HP:0012093 | HP:0004510 | Pancreatic islet-cell hyperplasia | 2 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0012093 | HP:0008261 | Pancreatic islet cell adenoma | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0012093 | HP:0031224 | Diffuse pancreatic islet hyperplasia | 3 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040282 - Frequent | | | 245 | | |
HP:0012093 | HP:0031223 | Focal pancreatic islet hyperplasia | 3 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040282 - Frequent | | | 245 | | |
HP:0012093 | HP:0012197 | Insulinoma | 3 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0012093 | HP:0012197 | Insulinoma | 3 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0012093 | HP:0012197 | Insulinoma | 3 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0012093 | HP:0012197 | Insulinoma | 3 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0012093 | HP:0012197 | Insulinoma | 3 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0012093 | HP:4000061 | Pancreatic alpha-cell hyperplasia | 3 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0012093 | HP:0031224 | Diffuse pancreatic islet hyperplasia | 3 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0012093 | HP:0031223 | Focal pancreatic islet hyperplasia | 3 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 3 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0031224 | Diffuse pancreatic islet hyperplasia | 3 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0012093 | HP:0012197 | Insulinoma | 3 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0012093 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 3 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | . | | | | | |
HP:0012093 | HP:0012197 | Insulinoma | 3 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0012093 | HP:0012197 | Insulinoma | 3 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0012093 | HP:0031224 | Diffuse pancreatic islet hyperplasia | 3 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040283 - Occasional | | | 15 | | |