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Table 3 Genes and SNPs used in the study and type of human monogenic diabetes that has been associated with the gene

From: Searching for "monogenic diabetes" in dogs using a candidate gene approach

Gene Protein SNP IDs Type of monogenic diabetes in humans Associated literature
ABCC8 Sulfonylurea receptor 1 rs9183439 rs22988565 PNDM, TNDM [33]
   rs22993873 rs9044450   [34]
BLK B lymphoid tyrosine kinase rs23277058 rs23242723 MODY 11 [35]
   rs23228211 rs23268052   [36]
Cel Carboxyl ester lipase rs8843005 rs8843006 MODY 8 (with exocrine dysfunction) [37]
   rs24549495    [38, 39]
EIF2AK3 Eukaryotic translation rs22578314 rs9179252 PNDM (with epiphyseal dysplasia) [40]
  initiation factor 2a kinase rs22578182 rs22566811   
FOXP3 Forkhead box P3 rs24618205 rs24596299 PNDM (X-linked with immune-dysregulation, polyendocrinopathy, enteropathy) [41]
   rs24612921    [42]
HNF1A Hepatocyte nuclear factor 1a rs23350532 rs9013694 MODY 3 [43]
   rs23309484    [20]
HNF1B Hepatocyte nuclear factor 1b rs24537168 rs24585301 MODY 5 (also with renal dysfunction, genital malformations) and PNDM [44]
   rs24537175 rs24585484   
HNF4A Hepatocyte nuclear factor 4a rs23214782 rs23200327 MODY 1 [43]
   rs8804236 rs23200360   [45]
   rs23214781 rs9006559   [16]
INS Insulin rs22686871   PNDM, MODY [23]
KLF11 Kruppel-like factor 11 rs22598321 rs8803647 MODY 7 [46]
MTTL1 Transfer RNA for protein rs8648077 rs8884972 Mitochondrial diabetes (maternally transmitted with deafness) [47]
  translation rs24305581    [48]
PAX4 Paired box 4 rs22302371 rs22302353 MODY 9 [49]
PDX1   rs8837751 rs8837750 MODY 4, PNDM (with pancreatic agenesis) [50]
  Insulin promoter factor 1   rs23247540   [21]
PTF1A Pancreas-specific rs8955054 rs8955053 PNDM (with pancreatic and cerebellar agenesis) [51]
  transcription factor 1a rs8955055    
RFX6 Regulatory factor X6 rs8928516 rs21958946 PNDM (with hypoplastic pancreas and gall bladder, intestinal atresia) [52]
   rs21890992    
WFS1   rs24739532   PNDM (with diabetes insipidus, optic atrophy, deafness) [53]
  Wolframin     [54]
ZFP57 Zinc finger protein 57 rs23901704 rs23892119 TNDM [55]
   rs23892118 rs23901705   
ZAC1/PLAG1 Pleiomorphic adenoma gene-like 1 rs23483681   TNDM  
  1. PNDM: Permanent neonatal diabetes; TNDM: Transient neonatal diabetes; MODY: Maturity onset diabetes of the young.