Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A
0.010 GeneticVariation disease BEFREE Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one with developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, due to a KCNJ11 mutation. 28943513 2018