Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 GeneticVariation BEFREE Here, we describe dorsal pancreatic agenesis in 2 patients with PDX1 -MODY. 28436541

2018

Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 GeneticVariation BEFREE Recessive PDX1 (IPF1) mutations are a rare cause of pancreatic agenesis, with three cases reported worldwide. 23320570

2013

Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 GeneticVariation BEFREE We studied the genetic and clinical features of diabetic subjects in a 5-generation Michigan-Kentucky pedigree ascertained through a proband with pancreatic agenesis and homozygous for the IPF1 mutation Pro63fsx60. 20621032

2010

Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 GeneticVariation BEFREE In contrast to other reported PDX1 mutations leading to neonatal diabetes and pancreas agenesis, homozygosity for the E178G mutation was not associated with clinical signs of exocrine pancreas insufficiency. 20009086

2010

Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 GeneticVariation BEFREE Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. 19496967

2009

Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 GeneticVariation BEFREE Here, we describe two novel mutations in the IPF1 gene leading to pancreas agenesis. 12970316

2003

Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 Biomarker BEFREE In humans and other animal species, the embryonic development of the pancreas requires PDX-1, as demonstrated by the identification of an individual with pancreatic agenesis resulting from a mutation that impaired the transcription of a functionally active PDX-1 protein. 11834421

2002

Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 GeneticVariation BEFREE In addition, cerebellar hypoplasia and Walcott-Rallison syndrome have been associated with PNDM, suggesting an autosomal recessive inheritance pattern; furthermore, a mutation in the gene insulin promoter factor 1 has been identified as a cause of pancreatic agenesis in PNDM. 10895036

2000

Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0000846
Disease: Agenesis
Agenesis
0.090 GeneticVariation BEFREE We conclude that mutations in the IPF-1 gene may predispose to type 2 diabetes and are a rare cause of MODY and pancreatic agenesis, with the phenotype depending upon the severity of the mutation. 10545530

1999