POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Disease: Failure to Thrive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893755
rs104893755
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1
CUI: C0015544
Disease:
Failure to Thrive 		0.010 GeneticVariation 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