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:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040281 - Very frequent | | | 245 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | HP:0040281 - Very frequent | | | 12 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040283 - Occasional | | | 101 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | . | | | 55 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040281 - Very frequent | | | 237 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0001985 | HP:0001985 | Hypoketotic 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:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040281 - Very frequent | | | 99 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040282 - Frequent | | | 161 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0001985 | HP:0001985 | Hypoketotic 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:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0001985 | HP:0001985 | Hypoketotic hypoglycemia | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040281 - Very frequent | | | 15 | | |