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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:hypoglycemia
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Accession:DOID:9993 term browser browse the term
Definition:A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. (DO)
Synonyms:exact_synonym: Fasting Hypoglycemia;   Postabsorptive Hypoglycemia;   Postprandial Hypoglycemia;   Reactive Hypoglycemia;   hypoglycaemia
 primary_id: MESH:D007003
 xref: ICD10CM:E16.2;   ICD9CM:251.2;   NCI:C3126


show annotations for term's descendants           Sort by:
hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 IMP
ISO		 ClinVar Annotator: match by term: Hypoglycemia ClinVar
RGD		 PMID:10204114 PMID:10685980 PMID:16380471 PMID:16416420 PMID:16613899 More... RGD:2301896 NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) RGD PMID:18328310 RGD:2313551 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: therapeutic CTD PMID:34848246 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:12606499 RGD:704397 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 More... NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A RGD PMID:10636977 RGD:1601353 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO mRNA:increased expression:retina RGD PMID:21738719 RGD:401827130 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:18268044 PMID:17407387 RGD:2301837, RGD:12904698 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500 		JBrowse link
G Ins1 insulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:222008 PMID:3084764 PMID:6797439 PMID:18545258 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:48835 PMID:1324617 PMID:1646414 PMID:1890151 PMID:2554359 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:18596924 PMID:20032456 PMID:23700433 PMID:27908292 PMID:31464105 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase IEP associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) RGD PMID:15494609 RGD:5130725 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) RGD PMID:9814479 RGD:1601469 NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638 		JBrowse link
G Prl prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:19763161 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Th tyrosine hydroxylase IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:25741868 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Tbx19 T-box transcription factor 19 ISO
ISS		 OMIM:201400
ClinVar Annotator: match by term: ACTH deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163 		JBrowse link
carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1a carnitine palmitoyltransferase 1A ISO
ISS		 ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
OMIM:255120
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 More... NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile		 CTD
OMIM
ClinVar		 PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
Congenital Hyperinsulinism term browser
Symbol Object Name Qualifiers 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 hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:mutations:exon:multiple
DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human)
DNA:mutations:exon, intron:multiple
DNA:deletion: :p.S1387del (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3202066 PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 More... RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperinsulinism		 CTD
ClinVar		 PMID:15277402 PMID:19053014 PMID:19336674 PMID:21831042 PMID:23890519 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO RGD PMID:9571255 RGD:1302513 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism		 ClinVar
RGD		 PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 More... RGD:12904701 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:deletion, insertion:exon
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)		 CTD
ClinVar
RGD		 PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 More... RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:25741868 PMID:29069600 NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265 		JBrowse link
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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
HMG-CoA synthase 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO
ISS		 ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
OMIM:605911
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 More... NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency ClinVar NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Qualifiers 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: 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: Hyperinsulinemic hypoglycemia | 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
hypoinsulinemic hypoglycemia with hemihypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15166380 PMID:16722806 PMID:21518566 PMID:21979934 PMID:25741868 More... NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
leucine-sensitive hypoglycemia of infancy term browser
Symbol Object Name Qualifiers 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: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840 PMID:10204114 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: Leucine-induced hypoglycemia ClinVar PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica term browser
Symbol Object Name Qualifiers 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: Neonatal hypoglycemia ClinVar PMID:10857971 PMID:16885549 PMID:17466004 PMID:21814221 PMID:25741868 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Hypoglycemia, neonatal, simulating foetopathia diabetica ClinVar PMID:15166380 PMID:16722806 PMID:21518566 PMID:25741868 PMID:28492532 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Neonatal hypoglycemia ClinVar PMID:16609879 PMID:16885549 PMID:17446535 PMID:17466004 PMID:17635943 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        pancreas disease 1257
          endocrine pancreas disease 659
            hypoglycemia 95
              Carnitine Palmitoyltransferase II Deficiency, Infantile 1
              Congenital Hyperinsulinism + 58
              HMG-CoA synthase 2 deficiency 2
              Hirata disease 0
              Insulin Coma 0
              Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 3
              adrenocorticotropic hormone deficiency 3
              carnitine palmitoyltransferase I deficiency 1
              hyperinsulinemic hypoglycemia + 55
              hypoinsulinemic hypoglycemia with hemihypertrophy 1
              leucine-sensitive hypoglycemia of infancy 2
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
                  Carnitine Palmitoyltransferase II Deficiency, Infantile 1
                  Congenital Hyperinsulinism + 58
                  HMG-CoA synthase 2 deficiency 2
                  Hirata disease 0
                  Insulin Coma 0
                  Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 3
                  adrenocorticotropic hormone deficiency 3
                  carnitine palmitoyltransferase I deficiency 1
                  hyperinsulinemic hypoglycemia + 55
                  hypoinsulinemic hypoglycemia with hemihypertrophy 1
                  leucine-sensitive hypoglycemia of infancy 2
paths to the root