Disease Term Disease ID Gene Symbol Classification References Source
Diabetes Mellitus C0011849 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
APPL1 Causal Pathogenic evidence from ClinVar - ClinVar
BLK Causal Pathogenic evidence from ClinVar - ClinVar
GCK Causal Pathogenic evidence from ClinVar - ClinVar
HNF1A Causal Pathogenic evidence from ClinVar - ClinVar
HNF1B Causal Pathogenic evidence from ClinVar - ClinVar
HNF4A Causal Pathogenic evidence from ClinVar - ClinVar
INS Causal Pathogenic evidence from ClinVar 2055425, 7294224, 7624867, 8400068, 11446671, 15628829, 17855560, 18162506 ClinVar
Diabetes Mellitus, Insulin-Dependent C0011854 ABCC8 Causal Pathogenic evidence from ClinVar 18025464 ClinVar
HNF1A Causal Pathogenic evidence from ClinVar - ClinVar
INS Causal Pathogenic evidence from ClinVar 20620209, 21829393, 25751624, 31152121 ClinVar
Diabetes Mellitus, Ketosis-Prone C3837958 ABCC8 Causal Pathogenic evidence from ClinVar 18025464 ClinVar
HNF1A Causal Pathogenic evidence from ClinVar - ClinVar
INS Causal Pathogenic evidence from ClinVar 20620209 ClinVar
Diabetes Mellitus, Non-Insulin-Dependent C0011860 ABCC8 Causal Pathogenic evidence from ClinVar 9568693, 22209866, 29358691 ClinVar
AKT2 Causal Pathogenic evidence from ClinVar 15166380, 17327441, 17576055, 19164855 ClinVar
GCK Causal Pathogenic evidence from ClinVar 15102714, 15161764, 16123366, 20081858, 22885922, 23575436 ClinVar
GPD2 Causal Pathogenic evidence from ClinVar 16123366 ClinVar
HNF1A Causal Pathogenic evidence from ClinVar 22325160, 22885922, 28869590, 29632382, 30595370 ClinVar
HNF1B Causal Pathogenic evidence from ClinVar 12161522, 15085338, 15930087, 17603485, 19389850, 21874001, 22325160, 22885922, 22961080, 24509480, 26818947, 28869590, 30054458, 30595370, 30718926 ClinVar
HNF4A Causal Pathogenic evidence from ClinVar 9449683, 17317762, 21874001, 22158537, 23300278, 24509480, 28242437, 28869590, 29632382, 30054458, 30595370, 30718926, 31118516 ClinVar
INS Causal Pathogenic evidence from ClinVar 3511099, 7573102, 11522680, 11978674, 15531508, 16259526, 16519038, 21680998, 21779873, 23349674, 30254083 ClinVar
DIABETES MELLITUS, PERMANENT NEONATAL C1833104 ABCC8 Causal Pathogenic evidence from ClinVar 16613899, 16885549, 17213273, 17668386, 21844708, 22498247, 24843665 ClinVar
GCK Causal Pathogenic evidence from ClinVar 11372010, 21844708, 22498247, 25015100 ClinVar
HNF1B Causal Pathogenic evidence from ClinVar 15930087 ClinVar
INS Causal Pathogenic evidence from ClinVar 17855560, 18162506, 20133622, 20938745, 21592955, 21844708, 22498247, 23107109, 23245869 ClinVar
Diabetes Mellitus, Sudden-Onset C4554117 ABCC8 Causal Pathogenic evidence from ClinVar 18025464 ClinVar
HNF1A Causal Pathogenic evidence from ClinVar - ClinVar
INS Causal Pathogenic evidence from ClinVar 20620209 ClinVar
Diabetes Mellitus, Transient Neonatal, 1 C1832386 ABCC8 Causal Pathogenic evidence from ClinVar 21738553, 21844708, 22498247 ClinVar
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) C1835887 ABCC8 Causal Pathogenic evidence from ClinVar 16885549 ClinVar
Neonatal diabetes mellitus C0158981 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
GCK Causal Pathogenic evidence from ClinVar - ClinVar
HNF1B Causal Pathogenic evidence from ClinVar - ClinVar
INS Causal Pathogenic evidence from ClinVar - ClinVar
Permanent neonatal diabetes mellitus 99885 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
GCK Causal Pathogenic evidence from ClinVar - ClinVar
INS Causal Pathogenic evidence from ClinVar - ClinVar
Transient neonatal diabetes mellitus 99886, C0342273 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
APPL1 Causal Pathogenic evidence from ClinVar - ClinVar
BLK Causal Pathogenic evidence from ClinVar - ClinVar
CEL Causal Pathogenic evidence from ClinVar - ClinVar
GCK Causal Pathogenic evidence from ClinVar - ClinVar
HNF1A Causal Pathogenic evidence from ClinVar - ClinVar
HNF4A Causal Pathogenic evidence from ClinVar - ClinVar
INS Causal Pathogenic evidence from ClinVar - ClinVar
Diabetes mellitus autosomal dominant type II (disorder) C0342277 GCK Causal Pathogenic evidence from ClinVar 1303265, 1464666, 1502186, 8168652, 8325892, 8446612, 8495817, 8878425, 9049484, 9662401, 9736233, 10588527, 10694920, 10753050, 11079754, 11106831, 11372010, 11508276, 12442280, 14517946, 15677479, 16444761, 16632067, 16731834, 16965331, 17204055, 17389332, 17573900, 18322640, 18382660, 18399931, 18411240, 19187021, 19309449, 19339519, 19564454, 19790256, 19884385, 20337973, 21115832, 22060211, 22611063, 22820548, 23295292, 24430320, 24735133, 25015100, 25182307, 27271189, 30155490, 30592380 ClinVar
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) C2675866 HNF1A Causal Pathogenic evidence from ClinVar 9313763, 9867222, 10333057 ClinVar
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 C1852092 INS Causal Pathogenic evidence from ClinVar 17855560, 18192540 ClinVar