PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782994
rs587782994
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
G 0.800 CausalMutation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
C 0.800 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
C 0.800 CausalMutation CLINVAR
dbSNP: rs587783001
rs587783001
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
C 0.800 CausalMutation CLINVAR
dbSNP: rs1554129008
rs1554129008
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554129040
rs1554129040
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C1843367
Disease:
Poor school performance
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554129045
rs1554129045
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554129069
rs1554129069
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
ACG 0.700 CausalMutation CLINVAR
dbSNP: rs1554129096
rs1554129096
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554129100
rs1554129100
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554129114
rs1554129114
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
GT 0.700 CausalMutation CLINVAR
dbSNP: rs1554129118
rs1554129118
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
C 0.700 CausalMutation CLINVAR
dbSNP: rs1561793211
rs1561793211
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
GC 0.700 CausalMutation CLINVAR
dbSNP: rs1561793336
rs1561793336
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1561793344
rs1561793344
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
C 0.700 CausalMutation CLINVAR
dbSNP: rs587782991
rs587782991
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C2267233
Disease:
Neonatal Hypotonia
C 0.700 CausalMutation CLINVAR
dbSNP: rs587782991
rs587782991
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C1843367
Disease:
Poor school performance
C 0.700 CausalMutation CLINVAR
dbSNP: rs587782991
rs587782991
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
C 0.700 CausalMutation CLINVAR
dbSNP: rs587782991
rs587782991
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0036572
Disease:
Seizures
C 0.700 CausalMutation CLINVAR
dbSNP: rs587782991
rs587782991
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0557874
Disease:
Global developmental delay
C 0.700 CausalMutation CLINVAR
dbSNP: rs587782991
rs587782991
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4015357
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
C 0.700 CausalMutation CLINVAR
dbSNP: rs587782992
rs587782992
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0557874
Disease:
Global developmental delay
A 0.700 CausalMutation CLINVAR
dbSNP: rs587782992
rs587782992
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C1843367
Disease:
Poor school performance
A 0.700 CausalMutation CLINVAR
dbSNP: rs587782992
rs587782992
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C2267233
Disease:
Neonatal Hypotonia
A 0.700 CausalMutation CLINVAR
dbSNP: rs587782992
rs587782992
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
A 0.700 CausalMutation CLINVAR