Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0015310
Disease: Exotropia
Exotropia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0563243
Disease: Poor coordination
Poor coordination 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0086437
Disease: Joint laxity
Joint laxity 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0014877
Disease: Esotropia
Esotropia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377234
rs1555377234
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555377234
rs1555377234
IRF2BPL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555377234
rs1555377234
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555377234
rs1555377234
IRF2BPL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs1555377234
rs1555377234
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs1555377234
rs1555377234
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs1555377234
rs1555377234
IRF2BPL
CUI: C0000772
Disease: Multiple congenital anomalies
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
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
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
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
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
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
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