Hyperinsulinemic Hypoglycemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. (Human Disease Ontology, DOID_13317)
External Link https://www.disgenet.org/browser/0/1/0/C1847555
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Genes

52 genes associated with the disease Hyperinsulinemic Hypoglycemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
BLK BLK proto-oncogene, Src family tyrosine kinase
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEL carboxyl ester lipase
CMA1 chymase 1, mast cell
CREBBP CREB binding protein
CRYL1 crystallin, lambda 1
DPP4 dipeptidyl-peptidase 4
EMP1 epithelial membrane protein 1
FGF21 fibroblast growth factor 21
FOXA2 forkhead box A2
GCG glucagon
GCK glucokinase (hexokinase 4)
GLP1R glucagon-like peptide 1 receptor
GLUD1 glutamate dehydrogenase 1
GPR83 G protein-coupled receptor 83
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HADH hydroxyacyl-CoA dehydrogenase
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
HRAS Harvey rat sarcoma viral oncogene homolog
INS insulin
INSR insulin receptor
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KLF11 Kruppel-like factor 11
KMT2D lysine (K)-specific methyltransferase 2D
LEP leptin
MAFA v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A
MCAT malonyl CoA:ACP acyltransferase (mitochondrial)
MCTS1 malignant T cell amplified sequence 1
MEN1 multiple endocrine neoplasia I
MPI mannose phosphate isomerase
MTG1 mitochondrial ribosome-associated GTPase 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NEUROD1 neuronal differentiation 1
NSD1 nuclear receptor binding SET domain protein 1
PAX4 paired box 4
PCNA proliferating cell nuclear antigen
PDX1 pancreatic and duodenal homeobox 1
PGM1 phosphoglucomutase 1
PMM2 phosphomannomutase 2
RIT2 Ras-like without CAAX 2
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SST somatostatin
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UGDH UDP-glucose 6-dehydrogenase