Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hyperinsulinemic hypoglycemia
go back to main search page
Accession:DOID:13317 term browser browse the term
Definition:A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. (DO)
Synonyms:exact_synonym: PHHI;   PHHI hypoglycemia;   PHHI hypoglycemias;   autosomal recessive hyperinsulinism;   familial hyperinsulinism with pancreatic nesidioblastosis;   hyperinsulinemia hypoglycemia of infancy;   hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia;   hyperinsulinemic hypoglycemia of infancy;   infancy hyperinsulinemia hypoglycemia;   islet cell hyperplasia;   nesidioblastoses;   nesidioblastosis;   nesidioblastosis of pancreas;   pancreas nesidioblastoses;   pancreas nesidioblastosis;   pancreatic nesidioblastoses;   pancreatic nesidioblastosis;   persistent hyperinsulinemia, hypoglycemia of infancy;   persistent hyperinsulinemic hypoglycemia;   persistent hyperinsulinemic hypoglycemia of infancy;   persistent hyperinsulinemic hypoglycemias
 primary_id: MESH:D046768
 alt_id: MESH:C538567
 xref: EFO:0007318;   ICD10CM:E16.9;   NCI:C122923;   NCI:C4375;   OMIM:PS256450
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISS
ISO		 OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy		 MouseDO
ClinVar		 PMID:1021286 PMID:2198959 PMID:7716548 PMID:8650576 PMID:8751851 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Gck glucokinase ISS OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy		 ClinVar PMID:8825408 PMID:16725361 PMID:19417036 PMID:21347589 PMID:23275527 More... NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia ClinVar PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar		 PMID:1021286 PMID:2198959 PMID:3202066 PMID:7716548 PMID:8650576 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Andpro androgen regulated protein ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,718,601...136,725,131
Ensembl chr 3:136,718,602...136,724,966 		JBrowse link
G Banf2 BANF family member 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,387,107...131,442,837
Ensembl chr 3:131,388,130...131,442,832 		JBrowse link
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337 		JBrowse link
G Cd93 CD93 molecule ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:135,891,859...135,898,378
Ensembl chr 3:135,891,859...135,898,378 		JBrowse link
G Cfap61 cilia and flagella associated protein 61 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,354,400...133,633,310
Ensembl chr 3:133,354,197...133,633,320 		JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302 		JBrowse link
G Cst11 cystatin 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,211,414...136,214,138
Ensembl chr 3:136,211,414...136,214,138 		JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Cst5 cystatin D ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:137,573,194...137,577,754
Ensembl chr 3:137,573,194...137,577,754 		JBrowse link
G Cst8 cystatin 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,244,586...136,255,412
Ensembl chr 3:136,244,636...136,251,273 		JBrowse link
G Cst9l cystatin 9-like ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,288,093...136,290,906
Ensembl chr 3:136,288,093...136,290,906 		JBrowse link
G Cstl1 cystatin-like 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,199,914...136,204,912
Ensembl chr 3:136,199,914...136,204,912 		JBrowse link
G Dstn destrin, actin depolymerizing factor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,284,647...131,311,361
Ensembl chr 3:131,284,648...131,311,379 		JBrowse link
G Dtd1 D-aminoacyl-tRNA deacylase 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,995,870...132,158,646
Ensembl chr 3:131,995,861...132,158,659 		JBrowse link
G Dzank1 double zinc ribbon and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,855,890...131,908,217
Ensembl chr 3:131,852,552...131,908,156 		JBrowse link
G Foxa2 forkhead box A2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Insm1 INSM transcriptional repressor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003 		JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
G Kif16b kinesin family member 16B ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019 		JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,277,631...134,385,260
Ensembl chr 3:134,277,687...134,385,190 		JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932 		JBrowse link
G Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,322,036...133,336,843
Ensembl chr 3:133,322,064...133,337,009 		JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345 		JBrowse link
G Nkx2-2 NK2 homeobox 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,619,701...134,630,282
Ensembl chr 3:134,620,039...134,622,411 		JBrowse link
G Nkx2-4 NK2 homeobox 4 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,514,368...134,517,243
Ensembl chr 3:134,515,039...134,516,505 		JBrowse link
G Nxt1 nuclear transport factor 2-like export factor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,108,975...136,111,897
Ensembl chr 3:136,108,862...136,111,907 		JBrowse link
G Otor otoraplin ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:130,415,339...130,418,601
Ensembl chr 3:130,415,339...130,418,601 		JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,677,391...131,707,123
Ensembl chr 3:131,677,391...131,708,359 		JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636 		JBrowse link
G Pcsk2 proprotein convertase subtilisin/kexin type 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127 		JBrowse link
G Pet117 PET117 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124
G Polr3f RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,908,466...131,924,838
Ensembl chr 3:131,908,466...131,924,837 		JBrowse link
G Ralgapa2 Ral GTPase activating protein catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,658,725...133,938,821
Ensembl chr 3:133,659,761...133,938,916 		JBrowse link
G Rbbp9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,925,095...131,939,042
Ensembl chr 3:131,925,341...131,932,156 		JBrowse link
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604 		JBrowse link
G Rrbp1 ribosome binding protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,314,996...131,376,930
Ensembl chr 3:131,314,998...131,376,981 		JBrowse link
G Scp2d1 SCP2 sterol-binding domain containing 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:132,201,979...132,202,729
Ensembl chr 3:132,200,744...132,212,725 		JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489 		JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192 		JBrowse link
G Snrpb2 small nuclear ribonucleoprotein polypeptide B2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:130,399,239...130,408,821
Ensembl chr 3:130,399,248...130,408,812 		JBrowse link
G Snx5 sorting nexin 5 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,621,875...131,641,127
Ensembl chr 3:131,621,880...131,641,192 		JBrowse link
G Sstr4 somatostatin receptor 4 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689 		JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306 		JBrowse link
G Zfp133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,829,404...131,847,552
Ensembl chr 3:131,829,404...131,847,550 		JBrowse link
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 ClinVar PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 ClinVar
OMIM		 PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO
ISS		 ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency
OMIM:602485
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1502186 PMID:2555564 PMID:7553875 PMID:7555485 PMID:8068341 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency		 OMIM
ClinVar
CTD		 PMID:904979 PMID:8825408 PMID:11489939 PMID:14693719 PMID:16725361 More... NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:2002058 PMID:2211730 PMID:2983222 PMID:7042734 PMID:8257688 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2002058 PMID:2170418 PMID:2211730 PMID:2983222 PMID:7042734 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9469993 PMID:9536098 PMID:9571225 PMID:9571255 PMID:9843361 More... NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965 		JBrowse link
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7		 OMIM
CTD
ClinVar		 PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 More... NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611 		JBrowse link
familial hyperinsulinemic hypoglycemia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a36 solute carrier family 25 member 36 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8 OMIM
ClinVar		 PMID:34576089 PMID:34971397 PMID:36695547 NCBI chr 8:97,659,848...97,693,735
Ensembl chr 8:97,662,127...97,693,703 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      hyperinsulinism 640
        Congenital Hyperinsulinism 58
          hyperinsulinemic hypoglycemia 55
            familial hyperinsulinemic hypoglycemia 1 49
            familial hyperinsulinemic hypoglycemia 2 2
            familial hyperinsulinemic hypoglycemia 3 1
            familial hyperinsulinemic hypoglycemia 4 2
            familial hyperinsulinemic hypoglycemia 5 1
            familial hyperinsulinemic hypoglycemia 6 2
            familial hyperinsulinemic hypoglycemia 7 1
            familial hyperinsulinemic hypoglycemia 8 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                hypoglycemia 95
                  Congenital Hyperinsulinism 58
                    hyperinsulinemic hypoglycemia 55
                      familial hyperinsulinemic hypoglycemia 1 49
                      familial hyperinsulinemic hypoglycemia 2 2
                      familial hyperinsulinemic hypoglycemia 3 1
                      familial hyperinsulinemic hypoglycemia 4 2
                      familial hyperinsulinemic hypoglycemia 5 1
                      familial hyperinsulinemic hypoglycemia 6 2
                      familial hyperinsulinemic hypoglycemia 7 1
                      familial hyperinsulinemic hypoglycemia 8 1
paths to the root