Hyperinsulinism

Disease Term Disease ID Gene Symbol References
Hyperinsulinism C0020459 ABCA4
AHR
ARL3
BBS2
CA4
CAV1
CD40 29035695
CD68 29035695
CNGB1
CNGA1
COL3A1 20836762
CRX
DBH
TSC22D3 22556341
ESR1
FANCA 22482891
FANCC 22482891
FBN1 20836762
FCGR3B 29035695
FOS
GCG 3019152
GLUD1 9571255
GPX1 15184668, 18560803
GUCA1B
HMOX1 19171794
FOXA2 28973288
HNF4A
IDH3A
IDH3B
IMPDH1
INS 3511099, 4019786, 2991050, 6382002
INSR 10949030, 18411068
IPW
IRS1 19734900
ITGAM 29035695
KCNJ11
LEP 9826672
LEPR 22949526, 24384915, 3519326, 29988851, 15093691, 25222487, 30689673
LMNA
MAK
MC4R 23251400
MRC1 29035695
NDN
NEK2
NOS3 19008412
NRL
PCSK1
PDE6A
PDE6G
PDE6B
PLIN1
PMM2
PMS2 17557300
POMC
PPARG
PTPN1 28899902
RBP3
PRPH2
RGR
RHO
RLBP1
ROM1
RP9
RP1
RP2
RPGR
RPE65
SAG
CCL2 29035695
SIM1
SNRPN
TNF 29035695
TUB
TULP1
UCP2 19065272
USH2A
CLRN1
BEST1
MKRN3
ALMS1
IFT88
OFD1
PROM1
HERC2
PRPF4
PRPF3
LRAT
CD163 29035695
IFT140
DHX38
NR2E3
MKRN3-AS1
TOPORS
ZMPSTE24
MERTK
AGPAT2
PRPF8
SNRNP200
ARHGEF18
CRB1
ARL2BP
NPAP1
PRPF6
FSCN2
SH2B1
PRPF31
IFT172
BSCL2
SCAPER
IMPG2
MAGEL2
AHI1
ASXL2
POMGNT1
SPATA7
KIZ
KLHL7
KIAA1549
SLC7A14
AGBL5
SEMA4A
NEIL1 16446448
ZNF408
DHDDS
DCAF17
ARL6
FAM161A
CDHR1
REEP6
TTC8
DIS3L2
ZNF513
HGSNAT
RDH12
PWAR1
CFAP418
CAVIN1
SNORD115-1
EYS
CERKL
PCARE
PRCD
PWRN1
SNORD116-1
Hyperinsulinism due to glucokinase deficiency 79299 GCK
Hyperinsulinism due to HNF1A deficiency C4303475, 324575 HNF1A 25733449, 22802087
Hyperinsulinism due to HNF4A deficiency C4274078, 263455 HNF4A 20931292, 25733449
Hyperinsulinism due to INSR deficiency 263458 INSR
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency C4274081, 276580 KCNJ11 18596924, 25733449
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 79644 KCNJ11
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 71212 HADH
Autosomal dominant hyperinsulinism due to SUR1 deficiency C4274080, 276575 ABCC8 11018078, 25733449
Autosomal recessive hyperinsulinism due to SUR1 deficiency 79643 ABCC8
Hyperinsulinism due to UCP2 deficiency 276556 UCP2
Hyperinsulinism due to uncoupling protein 2 deficiency C4303082 UCP2 19065272, 25733449