Monogenic diabetes

Disease Term Disease ID Gene Symbol Classification References Source
Monogenic diabetes C3888631 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
BSCL2 Causal Pathogenic evidence from ClinVar 23430896 ClinVar
GCK Causal Pathogenic evidence from ClinVar 11942313, 14517946, 14517956, 16602010, 16731834, 16965331, 17204055, 17573900, 18399931, 19150152, 19339519, 19358091, 19564454, 19790256, 20337973, 21104275, 22035297, 22493702, 22611063, 25015100 ClinVar
HNF1A Causal Pathogenic evidence from ClinVar 8945470, 9032114, 9166684, 9204893, 9313763, 10585442, 11058894, 11463573, 11713231, 14988562, 15726414, 16873682, 18003757, 19150152, 23348805, 24309898 ClinVar
HNF4A Causal Pathogenic evidence from ClinVar 8622695, 8945471, 16377800, 17407387, 20164212, 22952853, 23796040 ClinVar
KCNJ11 Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 2007407, 2270059, 10587585, 10655060, 10739751, 10868844, 10999845, 15219508, 16364671, 16415042, 19201734, 20074070, 22700598, 23313286, 23853504, 24080738 ClinVar
MC4R Causal Pathogenic evidence from ClinVar 10199800, 10592235, 12646665, 27654141 ClinVar
BLK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GATA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HNF1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HNRNPUL2-BSCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23430896 -
INS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17855560, 18162506, 18192540, 20226046, 25542748 -
INS-IGF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17855560, 18162506, 18192540, 20226046, 25542748 -
INSR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KLF11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEUROD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20573748, 26669242 -
PAX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PPARG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -