POU3F3, POU class 3 homeobox 3, 5455

N. diseases: 34; N. variants: 1
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability. 26833329 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features. 24550763 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Expression of Sox11 and Brn transcription factors during development and following transient forebrain ischemia in the rat. 18261853 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif. 17141158 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. 16505001 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Crucial roles of Brn1 in distal tubule formation and function in mouse kidney. 12925600 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Transcriptional regulation of cortical neuron migration by POU domain factors. 11859196 2002
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Brn-1 and Brn-2 share crucial roles in the production and positioning of mouse neocortical neurons. 12130536 2002
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The Oct-2 POU domain gene in the neuroendocrine brain: a transcriptional regulator of mammalian puberty. 10433239 1999
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Cooperative function of POU proteins and SOX proteins in glial cells. 9632656 1998
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor Brn-2. 8543156 1995
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The POU domain transcription factor Brn-2 is required for the determination of specific neuronal lineages in the hypothalamus of the mouse. 8543155 1995
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Crystal structure of the Oct-1 POU domain bound to an octamer site: DNA recognition with tethered DNA-binding modules. 8156594 1994
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Structure and evolution of four POU domain genes expressed in mouse brain. 1565620 1992
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR POU-domain transcription factors: pou-er-ful developmental regulators. 2044958 1991
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Expression of a large family of POU-domain regulatory genes in mammalian brain development. 2739723 1989