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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 subfamily C member 8 ISO RGD PMID:18776135 RGD:2301896 NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
JBrowse link
G CRH corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) RGD PMID:15963101 RGD:2307154 NCBI chr10:91,547,865...91,598,918 JBrowse link
G EPO erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G G6PC glucose-6-phosphatase catalytic subunit 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 chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
JBrowse link
G GCK glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
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 chr10:83,498,338...83,540,730 JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:61,565,790...61,811,588 JBrowse link
G HNF1A HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:17407387, PMID:18268044 RGD:12904698, RGD:2301837 NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chr11:67,302,066...67,317,785
Ensembl chr11:70,527,017...70,540,846
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:48835, PMID:1324617, PMID:1646414, PMID:1890151, PMID:2554359, PMID:20620209, PMID:22940631 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
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 chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 Ensembl chr22:45,218,364...45,302,970 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 7:105,831,567...105,873,793
Ensembl chr 7:118,529,362...118,571,770
JBrowse link
G PRL prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TH tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274
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-CoA synthase 2 ISO OMIM NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
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 ISO OMIM NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
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 OMIM NCBI chr 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
JBrowse link
Congenital Hyperinsulinism 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
ClinVar Annotator: match by term: familial hyperinsulinism
DNA:deletion: :p.S1387del (human)
DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human)
DNA:mutations:exon:multiple
DNA:mutations:exon, intron:multiple
DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
CTD
ClinVar
RGD
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:18596924, 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:20573158, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20943781, PMID:21378087, PMID:21422196, 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 RGD:11067821, RGD:11069847, RGD:11070657, RGD:12743628, RGD:12790587, RGD:12790596, RGD:12790723, RGD:704365 NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
G GCK glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chr10:83,498,338...83,540,730 JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 4:100,495,205...100,540,589 JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
RGD
ClinVar
PMID:10227563, PMID:10768098, PMID:10983627, PMID:15281001, PMID:15793260, PMID:15928245, PMID:16883527, PMID:16946562, PMID:18414213, PMID:20164212, 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 RGD:12904701 NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:deletion, insertion:exon
CTD Direct Evidence: marker/mechanism
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
RGD
ClinVar
CTD
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:17316607, 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:23506826, PMID:23652837, PMID:24401662, PMID:24421282, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 RGD:11069847, RGD:12743624, RGD:12743643, RGD:12790587, RGD:12790723 NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
JBrowse link
G KCNT2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chr 1:171,722,130...172,112,927
Ensembl chr 1:176,003,920...176,390,592
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729
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 OMIM NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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 chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
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: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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO OMIM NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
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 OMIM NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
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 OMIM NCBI chr 4:100,495,205...100,540,589 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 chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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 OMIM NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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 OMIM NCBI chr10:83,498,338...83,540,730 JBrowse link
G SHLD2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr10:83,639,020...83,643,420 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 OMIM NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032
JBrowse link
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 ISO ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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 chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
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 subfamily C member 8 ISO OMIM NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
Hypoinsulinemic Hypoglycemia with Hemihypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 ISO OMIM NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    Nutritional and Metabolic Diseases 3561
      disease of metabolism 3561
        glucose metabolism disease 1173
          hypoglycemia 43
            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 1
            carnitine palmitoyltransferase I deficiency 1
Path 2
Term Annotations click to browse term
  disease 12751
    Nutritional and Metabolic Diseases 3561
      disease of metabolism 3561
        acquired metabolic disease 2060
          carbohydrate metabolism disease 1173
            glucose metabolism disease 1173
              hypoglycemia 43
                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 1
                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.