rs104893755, POU1F1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Growth failure
CUI: C0878787
Disease: Growth failure
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