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:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040281 - Very frequent | | | 245 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | . | | | 245 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:240800 | Hypoglycemia of infancy, leucine-sensitive | . | | | 245 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 245 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 2 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 75 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 25 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | . | | | 237 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040281 - Very frequent | | | 237 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 237 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | . | | | 56 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | HADH CL E G H | 3033 | 4799 | OMIM:609975 | Hyperinsulinemic hypoglycemia, familial, 4 | . | | | 41 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040281 - Very frequent | | | 41 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040281 - Very frequent | | | 161 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 161 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 138 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 62 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | . | | | 229 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:263458 | Hyperinsulinism due to INSR deficiency | HP:0040280 - Obligate | | | 229 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | . | | | 127 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 127 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 78 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | . | | | | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | HP:0040282 - Frequent | | | 51 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 32 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 55 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 30 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | | | | 74 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | HP:0040283 - Occasional | | | 7 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040281 - Very frequent | | | 15 | | |
HP:0000825 | HP:0000825 | Hyperinsulinemic hypoglycemia | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 7 | | |