| 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 | |