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: C0000772
Disease:
Multiple congenital anomalies 		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: C0026827
Disease:
Muscle hypotonia 		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 Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0026827
Disease:
Muscle hypotonia 		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: C0000772
Disease:
Multiple congenital anomalies 		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 The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: C0026827
Disease:
Muscle hypotonia 		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 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: C0000772
Disease:
Multiple congenital anomalies 		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 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: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
dbSNP: rs1555377234
rs1555377234
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs1292724234
rs1292724234
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C4748127
Disease:
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0598275
Disease:
Diffuse cerebral atrophy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0409345
Disease:
Flexion contracture - wrist 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0034935
Disease:
Babinski Reflex 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0240116
Disease:
Hyperactive patellar reflex 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0015310
Disease:
Exotropia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0497327
Disease:
Dementia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C1854882
Disease:
Absent speech 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C1857108
Disease:
Limitation of joint mobility 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0029089
Disease:
Ophthalmoplegia 		A 0.700 GeneticVariation CLINVAR