POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Disease: Failure to Thrive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.020 GeneticVariation disease BEFREE A previously described heterozygous Arg271Trp mutation in exon 6 of the POU1F1 gene was identified in a female infant who presented with growth failure and was diagnosed with TSH then GH deficiencies. 12780757 2003
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.020 Biomarker disease BEFREE Both the Pit-1 gene and the GH-1 gene have been examined in children with extreme growth failure. 8300051 1993