POU3F3, POU class 3 homeobox 3, 5455

N. diseases: 34; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability. 26833329 2016
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features. 24550763 2014
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Expression of Sox11 and Brn transcription factors during development and following transient forebrain ischemia in the rat. 18261853 2008
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif. 17141158 2006
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. 16505001 2006
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Crucial roles of Brn1 in distal tubule formation and function in mouse kidney. 12925600 2003
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Brn-1 and Brn-2 share crucial roles in the production and positioning of mouse neocortical neurons. 12130536 2002
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Transcriptional regulation of cortical neuron migration by POU domain factors. 11859196 2002
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The Oct-2 POU domain gene in the neuroendocrine brain: a transcriptional regulator of mammalian puberty. 10433239 1999
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Cooperative function of POU proteins and SOX proteins in glial cells. 9632656 1998
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation 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
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor Brn-2. 8543156 1995
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Crystal structure of the Oct-1 POU domain bound to an octamer site: DNA recognition with tethered DNA-binding modules. 8156594 1994
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Structure and evolution of four POU domain genes expressed in mouse brain. 1565620 1992
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR POU-domain transcription factors: pou-er-ful developmental regulators. 2044958 1991
dbSNP: rs1553426462
rs1553426462
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Expression of a large family of POU-domain regulatory genes in mammalian brain development. 2739723 1989