Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2. 21444724 2011
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis. 17627301 2007
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. 11095982 2000