Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2. 21444724

2011
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis. 17627301

2007
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. 11095982

2000