Hyperinsulinemic hypoglycemia

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