Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0027066
Disease:
Myoclonus
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C1861239
Disease:
Plantar flexion contractures
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0013362
Disease:
Dysarthria
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0566620
Disease:
Nasal voice
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0152020
Disease:
Gastroparesis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0011168
Disease:
Deglutition Disorders
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0085639
Disease:
Falls
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0240914
Disease:
Romberg's sign positive
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
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: C1858427
Disease:
Limited extraocular movements
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0234518
Disease:
Slurred speech
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0151889
Disease:
Hyperreflexia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C1836003
Disease:
Facial diplegia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0041105
Disease:
Trismus
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0426970
Disease:
Spastic Quadriplegia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0232466
Disease:
Feeding difficulties
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0007789
Disease:
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0009806
Disease:
Constipation
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0409338
Disease:
Flexion contracture - elbow
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0007758
Disease:
Cerebellar Ataxia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0338656
Disease:
Impaired cognition
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0333068
Disease:
Flexion contracture
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C1845274
Disease:
Abnormal conjugate eye movement
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C0026826
Disease:
Muscle Hypertonia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1345176461
rs1345176461
Entrez Id: 64207;107984638
Gene Symbol: IRF2BPL;LOC107984638
IRF2BPL;LOC107984638
CUI: C1850601
Disease:
Abnormality of brainstem morphology
A 0.700 GeneticVariation CLINVAR