Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A
0.030 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
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A
0.030 GeneticVariation disease BEFREE Isolated pancreatic agenesis resulting from compound heterozygosity for truncating and enhancer mutations in the PTF1A gene has not been previously reported. 28663161 2017
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A
0.030 GeneticVariation disease BEFREE This analysis uncovered six different recessive mutations in a previously uncharacterized ~400-bp sequence located 25 kb downstream of PTF1A (encoding pancreas-specific transcription factor 1a) in ten families with pancreatic agenesis. 24212882 2014