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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypoglycemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ISO RGD PMID:18776135 RGD:2301896 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
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:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr 7:27,591,552...27,640,826
Ensembl chr 7:27,591,552...27,640,826
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
JBrowse link
G Creb1 cAMP responsive element binding protein 1 IMP RGD PMID:11557984 RGD:734816 NCBI chr 1:64,532,794...64,604,548
Ensembl chr 1:64,532,645...64,604,548
JBrowse link
G Crh corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chr 3:19,693,401...19,695,396
Ensembl chr 3:19,693,401...19,695,396
JBrowse link
G Cyp2c65 cytochrome P450, family 2, subfamily c, polypeptide 65 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) RGD PMID:15963101 RGD:2307154 NCBI chr19:39,061,006...39,093,948
Ensembl chr19:39,061,015...39,093,944
JBrowse link
G Cyp2c66 cytochrome P450, family 2, subfamily c, polypeptide 66 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) RGD PMID:15963101 RGD:2307154 NCBI chr19:39,113,898...39,186,756
Ensembl chr19:39,113,898...39,187,072
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G G6pc glucose-6-phosphatase, catalytic ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:2172641, PMID:7573034, PMID:7623438, PMID:7744838, PMID:7814621, PMID:8182131, PMID:8211187, PMID:8734807, PMID:9332655, PMID:10612834, PMID:10834516, PMID:10874313, PMID:11310582, PMID:11739393, PMID:12093795, PMID:12373566, PMID:15316959, PMID:18008183, PMID:20301489, PMID:21599942, PMID:23312056, PMID:24033266, PMID:24082139, PMID:24385852, PMID:25308557, PMID:25333069, PMID:25741868, PMID:28397058, PMID:28492532, PMID:32313153 NCBI chr11:101,367,716...101,377,903
Ensembl chr11:101,367,561...101,377,903
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
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 chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr 6:135,713,221...136,173,615
Ensembl chr 6:135,713,233...136,173,511
JBrowse link
G Gsr glutathione reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:102,284,638...102,505,381
Ensembl chr  X:102,284,639...102,505,359
JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr 5:114,948,980...114,971,062
Ensembl chr 5:114,948,980...114,971,094
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO
IMP
associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:18268044, PMID:17407387 RGD:2301837, RGD:12904698 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 IMP RGD PMID:11343120 RGD:737755 NCBI chr 7:101,822,632...101,838,226
Ensembl chr 7:101,822,632...101,838,229
JBrowse link
G Ins1 insulin I EXP CTD Direct Evidence: marker/mechanism CTD PMID:222008, PMID:3084764, PMID:6797439, PMID:18545258 NCBI chr19:52,264,297...52,265,015
Ensembl chr19:52,264,297...52,265,476
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:48835, PMID:1324617, PMID:1646414, PMID:1890151, PMID:2554359, PMID:20620209, PMID:22940631 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr17:71,003,332...71,126,856
Ensembl chr17:71,002,633...71,126,856
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IMP RGD PMID:9988280 RGD:737788 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) RGD PMID:15494609 RGD:5130725 NCBI chr11:98,386,623...98,388,180
Ensembl chr11:98,386,450...98,388,181
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
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 6:14,713,822...14,755,274
Ensembl chr 6:14,713,977...14,755,274
JBrowse link
G Prl prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr13:27,057,570...27,065,204
Ensembl chr13:27,057,570...27,065,205
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Th tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr 7:142,892,779...142,899,995
Ensembl chr 7:142,892,752...142,931,128
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) ISO RGD PMID:10935638 RGD:737762 NCBI chr 7:100,472,991...100,486,432
Ensembl chr 7:100,472,990...100,486,432
JBrowse link
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
ClinVar Annotator: match by OMIM:605911
OMIM
ClinVar
PMID:9337379, PMID:9727719, PMID:11228257, PMID:11479731, PMID:12072887, PMID:12647205, PMID:20346956, PMID:23751782, PMID:25511235, PMID:25741868, PMID:28492532 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Phgdh 3-phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 3:98,313,171...98,339,969
Ensembl chr 3:98,313,170...98,339,990
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chr 3:159,599,075...159,625,307
Ensembl chr 3:159,599,175...159,625,321
JBrowse link
G Tbx19 T-box 19 ISO
IEA
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
OMIM:201400
ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2830787, PMID:11290323, PMID:12651888, PMID:15476446, PMID:16390921, PMID:17652218, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 1:165,137,834...165,160,773
Ensembl chr 1:165,137,855...165,160,773
JBrowse link
carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO
IEA
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase I deficiency
ClinVar Annotator: match by term: CPT deficiency, hepatic, type IA
OMIM:255120
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1 deficiency
ClinVar Annotator: match by OMIM:255120
OMIM
ClinVar
MouseDO
PMID:9048718, PMID:9691089, PMID:11350182, PMID:11350183, PMID:11441142, PMID:12111367, PMID:12189492, PMID:12351641, PMID:14517221, PMID:15110323, PMID:16146704, PMID:16169268, PMID:16958601, PMID:19181627, PMID:19217814, PMID:20301700, PMID:20696606, PMID:21253826, PMID:21763168, PMID:21962599, PMID:23090344, PMID:23700290, PMID:24033266, PMID:24847810, PMID:25449608, PMID:25741868, PMID:26010953, PMID:26820065, PMID:27066452, PMID:27341449, PMID:28125087, PMID:28468868, PMID:28492532, PMID:30101502, PMID:31319225, PMID:32088118 NCBI chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
ClinVar Annotator: match by OMIM:600649
OMIM
ClinVar
PMID:736528, PMID:835844, PMID:1086878, PMID:1528846, PMID:1999498, PMID:2647738, PMID:2762996, PMID:7711730, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10734268, PMID:10862092, PMID:10873395, PMID:11855939, PMID:12410208, PMID:12673791, PMID:12707442, PMID:14605500, PMID:14615409, PMID:15363638, PMID:15622536, PMID:15642848, PMID:15754283, PMID:15776096, PMID:15811315, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17372854, PMID:17651973, PMID:17709715, PMID:17936304, PMID:18306170, PMID:18363739, PMID:18550408, PMID:18577113, PMID:18645163, PMID:18925671, PMID:19762733, PMID:20301431, PMID:20543534, PMID:20661589, PMID:20810031, PMID:20934285, PMID:20952238, PMID:21227726, PMID:21697855, PMID:21709843, PMID:21913903, PMID:22494076, PMID:22652984, PMID:22841441, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:23757202, PMID:24033266, PMID:24398345, PMID:24503134, PMID:24517888, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:26467025, PMID:26636822, PMID:27123472, PMID:27629963, PMID:27974123, PMID:28074886, PMID:28492532, PMID:28516040, PMID:28779239, PMID:30094188 NCBI chr 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
JBrowse link
Congenital Hyperinsulinism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ISO ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
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 Annotator: match by OMIM:256450
ClinVar Annotator: match by term: familial hyperinsulinism
ClinVar Annotator: match by term: Congenital Hyperinsulinism
ClinVar
CTD
PMID:7716548, PMID:8923011, PMID:9618169, PMID:9648840, PMID:9867219, PMID:10334322, PMID:10338089, PMID:10447255, PMID:10487673, PMID:10685980, PMID:10720932, PMID:10923633, PMID:11226335, PMID:11272143, PMID:11318841, PMID:11872696, PMID:11999683, PMID:12196481, PMID:12475776, PMID:12784138, PMID:12941782, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15356046, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16186397, PMID:16357843, PMID:16416420, PMID:16429405, PMID:16455067, PMID:16595597, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17257281, PMID:17378627, PMID:17384337, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17466004, PMID:17575084, PMID:17668386, PMID:17823772, PMID:18025408, PMID:18339976, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18758683, PMID:18988933, PMID:19214942, PMID:19233137, PMID:19475716, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:20427569, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20943781, PMID:21378087, PMID:21716120, PMID:21851374, PMID:21992908, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22802590, PMID:22855730, PMID:22992668, PMID:23067144, PMID:23261959, PMID:23275527, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23771172, PMID:24145932, PMID:24401662, PMID:24442125, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24937539, PMID:25115353, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25741868, PMID:25781672, PMID:25972930, PMID:26180531, PMID:26467025, PMID:27175728, PMID:27188453, PMID:27573238, PMID:27682711, PMID:27754802, PMID:27810688, PMID:28442472, PMID:28492532, PMID:29681852, PMID:30352420, PMID:30462810, PMID:7716548, PMID:23506826, PMID:23652837, PMID:20573158, PMID:16429405, PMID:24401662, PMID:21422196, PMID:18596924 RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Hadh hydroxyacyl-Coenzyme A dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 3:131,233,419...131,272,101
Ensembl chr 3:131,233,419...131,272,101
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar PMID:10227563, PMID:10768098, PMID:10983627, PMID:15281001, PMID:15793260, PMID:15928245, PMID:16883527, PMID:16946562, PMID:18414213, PMID:21105491, PMID:22140441, PMID:22232426, PMID:23247789, PMID:24033266, PMID:24097065, PMID:25041077, PMID:25631608, PMID:25741868, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:27080136, PMID:27420379, PMID:28492532, PMID:20164212 RGD:12904701 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
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
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852, PMID:23506826, PMID:23652837, PMID:24401662, PMID:17316607, PMID:24421282 RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
JBrowse link
G Kcnt2 potassium channel, subfamily T, member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chr 1:140,245,657...140,614,045
Ensembl chr 1:140,246,158...140,612,067
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr14:101,442,360...101,609,281
Ensembl chr14:101,442,360...101,609,191
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, sub-family C (CFTR/MRP), member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar
PMID:1021286, PMID:7716548, PMID:8650576, PMID:8751851, PMID:8923011, PMID:9075812, PMID:9382893, PMID:9519757, PMID:9568693, PMID:9618169, PMID:9642650, PMID:9648840, PMID:9769320, PMID:10202168, PMID:10204114, PMID:10334322, PMID:10338089, PMID:10400694, PMID:10426386, PMID:10447255, PMID:10487673, PMID:10615958, PMID:10685980, PMID:10720932, PMID:10923633, PMID:10993895, PMID:11018078, PMID:11226335, PMID:11272143, PMID:11395395, PMID:11457841, PMID:11697420, PMID:11867634, PMID:11999683, PMID:12169627, PMID:12199344, PMID:12364426, PMID:12559865, PMID:12627323, PMID:12784138, PMID:12941782, PMID:14593442, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15111507, PMID:15356046, PMID:15561897, PMID:15562009, PMID:15579781, PMID:15807877, PMID:15842514, PMID:16186397, PMID:16357843, PMID:16380471, PMID:16416420, PMID:16429405, PMID:16442101, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17378627, PMID:17384337, PMID:17466004, PMID:17539904, PMID:17575084, PMID:17668386, PMID:17919176, PMID:17990484, PMID:18025408, PMID:18073294, PMID:18339976, PMID:18346985, PMID:18390792, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18596924, PMID:18599530, PMID:18758683, PMID:18767144, PMID:18988933, PMID:19151370, PMID:19475716, PMID:20042013, PMID:20427569, PMID:20432820, PMID:20573158, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20849526, PMID:20922570, PMID:20943779, PMID:20943781, PMID:21109997, PMID:21214702, PMID:21321069, PMID:21378087, PMID:21411514, PMID:21422196, PMID:21544516, PMID:21617188, PMID:21674179, PMID:21716120, PMID:21851374, PMID:21968111, PMID:21978130, PMID:21992908, PMID:22210575, PMID:22308858, PMID:22562119, PMID:22662265, PMID:22704848, PMID:22796691, PMID:22802590, PMID:22855730, PMID:22876564, PMID:22902787, PMID:23067144, PMID:23226049, PMID:23261959, PMID:23266803, PMID:23273570, PMID:23275527, PMID:23301914, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23744072, PMID:23771172, PMID:23771920, PMID:23798684, PMID:23903354, PMID:24033266, PMID:24044690, PMID:24072082, PMID:24080777, PMID:24145932, PMID:24332968, PMID:24401662, PMID:24411943, PMID:24434300, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24750227, PMID:24768178, PMID:24814349, PMID:24937539, PMID:24959012, PMID:25008049, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25518065, PMID:25525159, PMID:25555642, PMID:25584046, PMID:25639667, PMID:25720052, PMID:25741868, PMID:25765446, PMID:25781672, PMID:25931474, PMID:25955821, PMID:25972930, PMID:26180531, PMID:26208381, PMID:26246406, PMID:26268944, PMID:26316440, PMID:26379717, PMID:26431509, PMID:26467025, PMID:26545876, PMID:26594346, PMID:26740944, PMID:26758964, PMID:26839896, PMID:27175728, PMID:27188453, PMID:27313609, PMID:27573238, PMID:27682711, PMID:27691052, PMID:27754802, PMID:27810688, PMID:27889714, PMID:27908292, PMID:28018462, PMID:28095440, PMID:28270372, PMID:28346775, PMID:28442472, PMID:28492532, PMID:28529015, PMID:28701683, PMID:29207974, PMID:29216354, PMID:29644095, PMID:30186238, PMID:30297969, PMID:30352420, PMID:30386300, PMID:30447144, PMID:30462810, PMID:31604004 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
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, sub-family C (CFTR/MRP), member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 OMIM
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
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 ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3
ClinVar Annotator: match by OMIM:602485
OMIM
ClinVar
PMID:7555485, PMID:8068341, PMID:8349034, PMID:8433729, PMID:8454109, PMID:9435328, PMID:9469993, PMID:10447526, PMID:11315850, PMID:11315851, PMID:11916951, PMID:11942313, PMID:12442280, PMID:12627330, PMID:14517946, PMID:14517956, PMID:15277402, PMID:15305805, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16963153, PMID:16965331, PMID:17573900, PMID:18271687, PMID:19790256, PMID:20132997, PMID:21604084, PMID:22493702, PMID:22611063, PMID:24097065, PMID:24518839, PMID:24728127, PMID:25015100, PMID:25741868, PMID:25850297, PMID:26467025, PMID:28492532 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by OMIM:609975
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
ClinVar
OMIM
PMID:904979, PMID:11489939, PMID:14693719, PMID:19318379, PMID:21252247, PMID:22662265, PMID:23273570, PMID:25741868, PMID:27104957, PMID:28492532 NCBI chr 3:131,233,419...131,272,101
Ensembl chr 3:131,233,419...131,272,101
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
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 OMIM:609968 OMIM
ClinVar
PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
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
ClinVar Annotator: match by OMIM:606762
OMIM
ClinVar
PMID:9469993, PMID:9571255, PMID:9843361, PMID:10636977, PMID:10871207, PMID:11214910, PMID:18414213, PMID:18928469, PMID:19046187, PMID:23869231, PMID:25008049, PMID:25741868, PMID:26467025, PMID:26759084, PMID:27188453, PMID:28165182, PMID:28492532, PMID:30306091, PMID:30352420, PMID:30425915 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr14:34,236,948...34,310,651
Ensembl chr14:34,237,033...34,310,493
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 (monocarboxylic acid transporters), member 1 ISO ClinVar Annotator: match by term: Exercise-induced hyperinsulinism
ClinVar Annotator: match by term: Exercise-induced hyperinsulinemic hypoglycemia
ClinVar Annotator: match by OMIM:610021
OMIM
ClinVar
PMID:11207177, PMID:17701893, PMID:18414213, PMID:19881260, PMID:25371203, PMID:25741868, PMID:25741869, PMID:26595136, PMID:28492532 NCBI chr 3:104,638,664...104,658,462
Ensembl chr 3:104,638,668...104,658,462
JBrowse link
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 IEA
ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
MouseDO
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Gck glucokinase IEA OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
ClinVar PMID:7847376, PMID:8897013, PMID:8923010, PMID:9356020, PMID:9867219, PMID:10338089, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:14551916, PMID:14715863, PMID:14871556, PMID:15115830, PMID:15504982, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:15998776, PMID:16416420, PMID:16455067, PMID:16595597, PMID:16670688, PMID:16982483, PMID:17257281, PMID:17316607, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17673911, PMID:17823772, PMID:18250167, PMID:18290324, PMID:18414213, PMID:18596924, PMID:18758683, PMID:18767144, PMID:19214942, PMID:19233137, PMID:19254908, PMID:19357197, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20049716, PMID:20424228, PMID:20589481, PMID:20685672, PMID:21115269, PMID:21119644, PMID:21765448, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22311976, PMID:22385882, PMID:22471336, PMID:22512215, PMID:22704848, PMID:22958899, PMID:22992668, PMID:23275527, PMID:23345197, PMID:24434300, PMID:24442125, PMID:24698822, PMID:25115353, PMID:25637631, PMID:25639667, PMID:25741868, PMID:25871929, PMID:25972930, PMID:26467025, PMID:26545876, PMID:26740944, PMID:27065949, PMID:28492532, PMID:29681852 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
JBrowse link
Hypoglycemia, Leucine-Induced term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ISO ClinVar Annotator: match by term: Leucine-induced hypoglycemia
ClinVar Annotator: match by OMIM:240800
OMIM
ClinVar
PMID:15356046, PMID:25741868 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
Hypoinsulinemic Hypoglycemia with Hemihypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy OMIM
ClinVar
PMID:21979934 NCBI chr 7:27,591,552...27,640,826
Ensembl chr 7:27,591,552...27,640,826
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13332
    Nutritional and Metabolic Diseases 3896
      disease of metabolism 3896
        glucose metabolism disease 1298
          hypoglycemia 45
            3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
            Carnitine Palmitoyltransferase II Deficiency, Infantile 1
            Congenital Hyperinsulinism + 11
            Hirata disease 0
            Hypoglycemia, Leucine-Induced 1
            Hypoinsulinemic Hypoglycemia with Hemihypertrophy 1
            Insulin Coma 0
            Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 0
            adrenocorticotropic hormone deficiency 2
            carnitine palmitoyltransferase I deficiency 1
Path 2
Term Annotations click to browse term
  disease 13332
    Nutritional and Metabolic Diseases 3896
      disease of metabolism 3896
        acquired metabolic disease 2275
          carbohydrate metabolism disease 1298
            glucose metabolism disease 1298
              hypoglycemia 45
                3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 2
                Carnitine Palmitoyltransferase II Deficiency, Infantile 1
                Congenital Hyperinsulinism + 11
                Hirata disease 0
                Hypoglycemia, Leucine-Induced 1
                Hypoinsulinemic Hypoglycemia with Hemihypertrophy 1
                Insulin Coma 0
                Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 0
                adrenocorticotropic hormone deficiency 2
                carnitine palmitoyltransferase I deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.