Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5447
Gene Symbol: POR
POR
0.130 Biomarker disease BEFREE The genes related to the pathogenesis of the craniosynostoses itself are those encoding transcription factors, e.g., TWIST1, MSX2, EN1, and ZIC1, and proteins involved in osteogenic proliferation, differentiation, and homeostasis, such as FGFR1, FGFR2, RUNX2, POR, and many others. 29392564 2018
Entrez Id: 5447
Gene Symbol: POR
POR
0.130 GeneticVariation disease BEFREE The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway. 21082653 2010
Entrez Id: 5447
Gene Symbol: POR
POR
0.130 GeneticVariation disease LHGDN P450 oxidoreductase deficiency: a new disorder of steroidogenesis. 16467261 2005
Entrez Id: 5447
Gene Symbol: POR
POR
0.130 Biomarker disease HPO