Hyperinsulinism

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
276580C4274081MONDO:0017185
KCNJ11 Unknown
18596924 25733449
Disgenet GWAS catalog Orphanet
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY
276575C4274080MONDO:0017184
ABCC8 Causal
11018078 25733449
Disgenet GWAS catalog Orphanet
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY
79644MONDO:0019334C5191078
KCNJ11 Unknown
25733449 8923010
Orphanet
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SULFONYLUREA RECEPTOR 1 DEFICIENCY
C5191077
ABCC8 Unknown — Disgenet
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY
79643MONDO:0019333
ABCC8 Unknown
15562009 25733449
Disgenet Orphanet
FAMILIAL HYPERINSULINISM
MONDO:0017182
ABCC8 Causal — GenCC
HNF4A Unknown — ClinVar
HYPERINSULINISM
C0020459MESH:D006946
ABCC8 Unknown — Disgenet
AGT Unknown — Disgenet
CCL2 Unknown
29035695
CTD Disgenet
CD163 Unknown
29035695
CTD Disgenet
CD40 Unknown
29035695
CTD Disgenet
CD68 Unknown
29035695
CTD Disgenet
CDKN1C Unknown — Disgenet
COL3A1 Unknown
20836762
CTD Disgenet
FANCA Unknown
22482891
CTD Disgenet
FANCC Unknown
22482891
CTD Disgenet
FBN1 Unknown
20836762
CTD Disgenet
FCGR3B Unknown
29035695
CTD
GCG Unknown
3019152
CTD Disgenet
GCK Unknown — Disgenet
GLUD1 Unknown
9571255
CTD Disgenet
GPX1 Unknown
15184668 18560803
CTD Disgenet
HADH Unknown — Disgenet
HMOX1 Unknown
19171794
CTD Disgenet
HNF4A Unknown — Disgenet
IL6 Unknown — Disgenet
INS Unknown
2991050 3511099 36764371 4019786 6382002
CTD Disgenet
INSR Unknown
10949030 18411068
CTD Disgenet
IRS1 Unknown
19734900
CTD Disgenet
ITGAM Unknown
29035695
CTD Disgenet
KCNJ11 Unknown — Disgenet
LEP Unknown
9826672
CTD Disgenet
LEPR Unknown
15093691 22949526 24384915 25222487 29988851 30689673 33345901 3519326
CTD Disgenet
LTA Unknown — Disgenet
MC4R Unknown
23251400
CTD Disgenet
MRC1 Unknown
29035695
CTD Disgenet
MTTP Unknown — Disgenet
NEIL1 Unknown
16446448
CTD Disgenet
NOS3 Unknown
19008412
CTD Disgenet
PARL Unknown — Disgenet
PTPN1 Unknown
28899902
CTD Disgenet
PTPRF Unknown — Disgenet
SHLD2 Unknown — Disgenet
SLC16A1 Unknown — Disgenet
TNF Unknown
29035695
CTD Disgenet
TSC22D3 Unknown
22556341
CTD Disgenet
HYPERINSULINISM DUE TO DEFICIENCY OF GLUCOKINASE
C4274019
GCK Unknown — Disgenet
HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY
MONDO:0011236
GCK Causal — ClinVar GenCC