Gene |
Chromosome |
Location |
Syndrome |
ABCA1 | 9 | q31.1 | Type 2 Diabetes | |
ABCC8 | 11 | p15.1 | Congenital hyperinsulinism | |
ABCC8 | 11 | p15.1 | Permanent neonatal diabetes mellitus | |
ACE | 17 | q23.3 | Type 2 Diabetes | |
ACE | 17 | q23.3 | Type 1 Diabetes | |
ADCY5 | 3 | q21.1 | Type 2 Diabetes | |
ADRA2A | 10 | q25.2 | Familial partial lipodystrophy | |
ADRB2 | 5 | q32 | Type 2 Diabetes | |
AGPAT2 | 9 | q34.3 | Type 2 Diabetes | |
AGTR1 | 3 | q24 | Type 1 Diabetes | |
AKT2 | 19 | q13.2 | Familial partial lipodystrophy | |
ALMS1 | 2 | p13.1 | Alstrom syndrome | |
ALOX12 | 17 | p13.1 | Type 2 Diabetes | |
ANGPTL4 | 19 | p13.2 | Type 2 Diabetes | |
APOC3 | 11 | q23.3 | Non-alcoholic fatty liver disease | |
AQP2 | 12 | q13.12 | Nephrogenic diabetes insipidus | |
AVP | 20 | p13 | neurohypophyseal diabetes insipidus | |
AVPR2 | 23 | q28 | Nephrogenic diabetes insipidus | |
BRAF | 7 | q34 | Langerhans cell histiocytosis | |
BTNL2 | 6 | p21.32 | Type 1 Diabetes | |
C4A | 6 | p21.33 | Type 1 Diabetes | |
CAPN10 | 2 | q37.3 | Type 2 Diabetes | |
CAT | 11 | p13 | Type 2 Diabetes | |
CAVIN1 | 17 | q21.2 | Type 2 Diabetes | |
CCR5 | 3 | p21.31 | Type 1 Diabetes | |
CD3e | 11 | q23.3 | Type 1 Diabetes | |
CDAN1 | 15 | q15.2 | Type 1 Diabetes | |
CDKAL1 | 6 | p22.3 | Gestational diabetes | |
CFTR | 7 | q31.2 | hereditary pancreatitis | |
CIDEA | 18 | p11.21 | Type 2 Diabetes | |
CIDEC | 3 | p25.3 | Familial partial lipodystrophy | |
CIDEC | 3 | p25.3 | Type 2 Diabetes | |
CISD2 | 4 | q24 | Wolfram syndrome - diabetes mellitus | |
CLEC16A | 16 | p13.13 | insulin-dependent diabetes mellitus | |
CTLA4 | 2 | q33.2 | Type 1 Diabetes | |
CTRC | 1 | p36.21 | hereditary pancreatitis | |
DCAF17 | 2 | q31.1 | Woodhouse-Sakati syndrome - diabetes mellitus | |
ENPP1 | 6 | q23.2 | Type 2 Diabetes | |
EPO | 7 | q22.1 | Microvascular complications of diabetes 2 | |
FOXP3 | 23 | p11.23 | Type 1 Diabetes | |
FTO | 16 | q12.2 | Type 2 Diabetes | |
GCGR | 17 | q25.3 | Type 2 Diabetes | |
GCK | 7 | p13 | Congenital hyperinsulinism | |
GCK | 7 | p13 | Permanent neonatal diabetes mellitus | |
GCK | 7 | p13 | Gestational diabetes | |
GCKR | 2 | p23.3 | Type 2 Diabetes | |
GCKR | 2 | p23.3 | Non-alcoholic fatty liver disease | |
GHR | 5 | p13.1 | Type 2 Diabetes | |
GLIS3 | 9 | p24.2 | Diabetes mellitus neonatal with congenital hypothyroidism | |
GLUD1 | 10 | q23.2 | Congenital hyperinsulinism | |
HADH | 4 | q25 | Congenital hyperinsulinism | |
HLA-DQA1 | 6 | p21.32 | Type 1 Diabetes | |
HLA-DQB1 | 6 | p21.32 | Type 1 Diabetes | |
HLA-DRB1 | 6 | p21.32 | Type 1 Diabetes | |
HNF1A | 12 | q24.31 | Congenital hyperinsulinism | |
HNF1A | 12 | q24.31 | Type 1 Diabetes | |
HNF1B | 17 | q12 | 17q12 deletion syndrome | |
HNF4A | 20 | q13.12 | Type 1 Diabetes | |
HNF4A | 20 | q13.12 | Type 2 Diabetes | |
HNF4A | 20 | q13.12 | Congenital hyperinsulinism | |
HYMAI | 6 | q24.2 | 6q24-related transient neonatal diabetes mellitus | |
IGF2BP2 | 3 | q27.2 | Gestational diabetes | |
IL2RA | 10 | p15.1 | Type 1 Diabetes | |
IL6 | 7 | p15.3 | Type 1 Diabetes | |
INS | 11 | p15.5 | Permanent neonatal diabetes mellitus | |
INS | 11 | p15.5 | Type 1 Diabetes | |
INSR | 19 | p13.2 | Rabson-Mendenhall syndrome | |
IRS1 | 2 | q36.3 | Gestational diabetes | |
ITPR3 | 6 | p21.31 | Type 1 Diabetes | |
KCNJ11 | 11 | p15.1 | Gestational diabetes | |
KCNJ11 | 11 | p15.1 | Permanent neonatal diabetes mellitus | |
KCNJ11 | 11 | p15.1 | Congenital hyperinsulinism | |
KCNQ1 | 11 | p15.5 | Gestational diabetes | |
KLF11 | 2 | p25.1 | Type 2 Diabetes | |
KRT18 | 12 | q13.13 | Cryptogenic cirrhosis | |
KRT8 | 12 | q13.13 | Cryptogenic cirrhosis | |
LHX1 | 17 | q12 | 17q12 deletion syndrome | |
LIPE | 19 | q13.2 | Familial partial lipodystrophy | |
LMNA | 1 | q22 | Familial partial lipodystrophy | |
LPIN1 | 2 | p25.1 | Type 2 Diabetes | |
MAP2K1 | 15 | q22.31 | Langerhans cell histiocytosis | |
MAP3K1 | 5 | q11.2 | Langerhans cell histiocytosis | |
MAPK8IP1 | 11 | p11.2 | Type 2 Diabetes | |
MBOAT7 | 19 | q13.42 | Non-alcoholic fatty liver disease | |
MTNR1B | 11 | q14.3 | Gestational diabetes | |
MT-TE | 0 | 14674-742 | Maternally inherited diabetes and deafness | |
MT-TK | 0 | 8295-8364 | Maternally inherited diabetes and deafness | |
MT-TL1 | 0 | 3230-3304 | Maternally inherited diabetes and deafness | |
NEUROD1 | 2 | q31.3 | Type 2 Diabetes | |
NLRP1 | 17 | p13.2 | Type 1 Diabetes | |
OAS1 | 12 | q24.13 | Type 1 Diabetes | |
PDX1 | 13 | q12.2 | Permanent neonatal diabetes mellitus | |
PIK3R1 | 5 | q13.1 | Type 2 Diabetes | |
PLAGL1 | 6 | q24.2 | 6q24-related transient neonatal diabetes mellitus | |
PLIN1 | 15 | q26.1 | Familial partial lipodystrophy | |
PNPLA2 | 11 | p15.5 | Type 2 Diabetes | |
PNPLA3 | 22 | q13.31 | Non-alcoholic fatty liver disease | |
PON1 | 7 | q21.3 | Microvascular complications of diabetes 5 | |
PPARG | 3 | p25.2 | Type 2 Diabetes | |
PPARG | 3 | p25.2 | Familial partial lipodystrophy | |
PPARGC1B | 5 | q32 | Type 2 Diabetes | |
PRSS1 | 7 | q34 | hereditary pancreatitis | |
PTPN22 | 1 | p13.2 | Type 1 Diabetes | |
PTPRN | 2 | q35 | insulin-dependent diabetes mellitus | |
PTPRN2 | 7 | q36.3 | Type 2 Diabetes | |
RETN | 19 | p13.2 | Type 2 Diabetes | |
RFX6 | 6 | q22.1 | Mitchell-Riley syndrome | |
SEC23B | 20 | p11.23 | Type 1 Diabetes | |
SH2B3 | 12 | q24.12 | Type 2 Diabetes | |
SLC16A1 | 1 | p13.2 | Congenital hyperinsulinism | |
SLC19A2 | 1 | q24.2 | Type 2 Diabetes | |
SLC29A3 | 10 | q22.1 | Type 1 Diabetes | |
SLC2A10 | 20 | q13.12 | Type 2 Diabetes | |
SLC2A2 | 3 | q26.2 | Type 2 Diabetes | |
SLC2A4 | 17 | p13.1 | Type 2 Diabetes | |
SLC30A8 | 8 | q24.11 | Type 2 Diabetes | |
SPINK1 | 5 | q32 | hereditary pancreatitis | |
SUMO4 | 6 | q25.1 | Type 1 Diabetes | |
TBC1D4 | 13 | q22.2 | Type 2 Diabetes | |
TCF7L2 | 10 | q25.2 | Gestational diabetes | |
TFAP2B | 6 | p12.3 | Type 2 Diabetes | |
TM6SF2 | 19 | p13.11 | Non-alcoholic fatty liver disease | |
TRIB1 | 8 | q24.13 | Non-alcoholic fatty liver disease | |
UCP2 | 11 | q13.4 | Congenital hyperinsulinism | |
VEGFA | 6 | p21.1 | microvascular complications of diabetes 1 | |
WFS1 | 4 | p16.1 | Wolfram syndrome - diabetes mellitus | |
WRN | 8 | p12 | Type 2 Diabetes | |
ZFP57 | 6 | p22.1 | 6q24-related transient neonatal diabetes mellitus | |