Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0041105
Disease: Trismus
Trismus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0027066
Disease: Myoclonus
Myoclonus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0497327
Disease: Dementia
Dementia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0015310
Disease: Exotropia
Exotropia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0566620
Disease: Nasal voice
Nasal voice 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0013132
Disease: Drooling
Drooling 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0009806
Disease: Constipation
Constipation 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		A 0.700 GeneticVariation CLINVAR