Disease Term Disease ID Gene Symbol References
Congenital Hyperinsulinism C3888018 BLK
CDKN1A
CDKN1B
CDKN2B
CDKN2C
CEL
GCK 15277402
GLUD1
HADH
FOXA2 29329447
HNF4A
INS
INSR
PDX1
KCNJ11 15579781, 24896178
MEN1
MPI
NEUROD1
PAX4
SLC16A1
ABCC8 23345197, 17378627, 15579781, 24616771, 20685672, 14764815, 23275527, 16186397, 23067144, 17466004, 9618169, 16357843, 10334322, 16969006, 8923011, 24145932, 27188453, 7716548, 20427569, 14715863, 27573238, 21716120, 15562009, 18988933, 26180531, 16429405
HNF1A
UCP2
KLF11
APPL1
MAFA
Hyperinsulinemic hypoglycemia C1864903 BLK
CDKN1A
CDKN1B
CDKN2B
CDKN2C
CEL
GCK
GLUD1
HADH
HNF4A
INS
INSR
PDX1
KCNJ11
MEN1
MPI
NEUROD1
PAX4
SLC16A1
ABCC8
HNF1A
UCP2
KLF11
APPL1
NSD1
MAFA
Hyperinsulinemic hypoglycemia, familial, 3 C1865290 GCK 12941786, 19884385, 9435328, 20375417, 11916951, 28247534, 25733449, 17082186, 15277402
Hyperinsulinemic hypoglycemia, familial, 1 C2931832 GCK 15277402
KCNJ11 15579781
ABCC8 23275527, 27691052, 16860127, 27682711, 8751851, 10202168, 27810688, 16357843, 24401662, 27908292, 10334322, 21716120, 19475716, 9769320, 24616771, 17378627, 15579781, 11226335, 25525159, 9618169, 24145932, 23067144, 25117148, 17466004, 25639667, 26268944, 10993895, 25008049, 26545876, 20943781, 24686051, 14764815, 25931474, 25781672, 12941782, 16429405, 28442472, 8923011, 21321069, 9648840, 11999683, 17668386, 10615958, 25584046, 14715863, 23345197, 15807877, 25720052, 15562009, 17384337, 19151370, 11272143, 17919176, 21992908, 8650576, 18596924, 18339976, 25201519, 10447255, 11018078, 12364426, 26740944, 21968111, 26180531, 18767144, 20685672, 21851374, 23652837, 23798684, 16969006, 24814349, 18988933, 22855730, 25518065, 27889714, 26246406, 14593442, 16186397, 25765446, 11395395, 10400694, 30352420, 24645945, 23771172, 17575084, 14692646, 20432820, 7716548, 11867634, 27573238, 12199344, 23744072
Hyperinsulinemic hypoglycemia, familial, 2 C2931833 GCK 15277402
KCNJ11 23275527, 15562009, 19357197, 27908292, 7847376, 20685672, 15998776, 8923010, 18250167, 15579781, 11395395, 21812132, 23345197, 17446535, 21422196, 18596924, 16357843, 10204114, 22311976, 16332676, 15807877, 12364426, 12524280
ABCC8 15562009, 23067144, 21378087, 20943781, 24401662, 14764815, 20685672, 16429405, 17378627, 17575084, 22855730, 20943779, 23345197, 23652837, 23275527, 10685980, 10338089, 19475716, 18073294, 14692646, 10334322, 24750227, 15579781, 17668386, 20799350, 9618169, 10202168, 25323548, 14715863, 1021286, 11867634, 17236890, 18767144, 17466004, 25117148, 27682711, 16416420, 18339976, 22802590, 21411514, 9648840, 21422196, 10720932, 10204114, 18988933, 16357843, 25201519
Hyperinsulinemic hypoglycemia, familial, 6 C1847555 GLUD1 9571255, 11214910, 25008049, 10636977, 26759084, 23869231, 11297618, 27604308, 27188453, 30306091, 25733449, 20936362
Hyperinsulinemic Hypoglycemia, Familial, 4 C1864948 HADH 11489939, 27181376
Hyperinsulinemic Hypoglycemia, Familial, 5 C1864952 INSR 15161766, 8288049
Hyperinsulinemic hypoglycemia, familial, 7 C1864902 SLC16A1 17701893