Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 GeneticVariation 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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 GeneticVariation 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