Hyperinsulinism

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY ABCC8 Causal Pathogenic evidence from ClinVar 11018078, 25733449 ClinVar
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SULFONYLUREA RECEPTOR 1 DEFICIENCY C5191077 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY ABCC8 Causal Pathogenic evidence from ClinVar 15562009, 25733449 ClinVar
FAMILIAL HYPERINSULINISM MONDO:0017182 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
HNF4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERINSULINISM C0020459, C0020459, MESH:D006946, MESH:D006946 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
GCK Causal Pathogenic evidence from ClinVar - ClinVar
INSR Causal Pathogenic evidence from ClinVar 10949030, 18411068 ClinVar
AGT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29035695 -
CD163 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29035695 -
CD40 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29035695 -
CD68 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29035695 -
CDKN1C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL3A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20836762 -
FANCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22482891 -
FANCC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22482891 -
FBN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20836762 -
FCGR3B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29035695 -
GCG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3019152 -
GLUD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9571255 -
GPX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15184668, 18560803 -
HADH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HMOX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19171794 -
HNF4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IL6 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 2991050, 3511099, 36764371, 4019786, 6382002 -
IRS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19734900 -
ITGAM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29035695 -
KCNJ11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LEP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9826672 -
LEPR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15093691, 22949526, 24384915, 25222487, 29988851, 30689673, 33345901, 3519326 -
LTA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MC4R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23251400 -
MRC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29035695 -
MTTP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEIL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16446448 -
HYPERINSULINISM DUE TO DEFICIENCY OF GLUCOKINASE C4274019 GCK Causal Pathogenic evidence from ClinVar - ClinVar
HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY MONDO:0011236 GCK Causal Pathogenic evidence from ClinVar - ClinVar
HYPERINSULINISM DUE TO HEPATOCYTE NUCLEAR FACTOR 1-ALPHA DEFICIENCY C4303475 HNF1A Causal Pathogenic evidence from ClinVar - ClinVar
HNF4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERINSULINISM DUE TO HNF1A DEFICIENCY HNF1A Causal Pathogenic evidence from ClinVar 22802087, 25733449 ClinVar
HYPERINSULINISM DUE TO INSR DEFICIENCY INSR Causal Pathogenic evidence from ClinVar 15161766 ClinVar
HYPERINSULINISM DUE TO INSULIN RECEPTOR DEFICIENCY C4303474 INSR Causal Pathogenic evidence from ClinVar - ClinVar
HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY C4303473 HADH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY HADH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11489939, 15870679, 21990309, 22579592, 23273570, 23430856 -
HYPERINSULINISM DUE TO HNF4A DEFICIENCY C4274078, MONDO:0016988 HNF4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20931292, 25733449 -
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY KCNJ11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18596924, 25733449 -
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY , C5191078 KCNJ11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25733449, 8923010 -