Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555377336
rs1555377336
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C4748127
Disease:
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		0.800 GeneticVariation UNIPROT De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. 30166628 2019
dbSNP: rs1555377336
rs1555377336
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C4748127
Disease:
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		0.800 GeneticVariation UNIPROT IRF2BPL Is Associated with Neurological Phenotypes. 30057031 2018
dbSNP: rs1555377336
rs1555377336
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C4748127
Disease:
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		C 0.800 CausalMutation CLINVAR
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