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: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0852413
Disease:
Abnormal muscle tone
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0522214
Disease:
Abnormal visual evoked potential
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C2712334
Disease:
Actual Aspiration
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4024993
Disease:
Aplasia/Hypoplasia of the clavicles
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C1839271
Disease:
Birth length greater than 97th percentile
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0856863
Disease:
Broad-based gait
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0240635
Disease:
Byzanthine arch palate
C 0.700 GeneticVariation CLINVAR
dbSNP: rs886039899
rs886039899
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0221263
Disease:
Cafe-au-Lait Spots
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0085583
Disease:
Choreoathetosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0401149
Disease:
Chronic constipation
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0239137
Disease:
Coxa valga
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C4023681
Disease:
Delayed fine motor development
C 0.700 GeneticVariation 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: rs587782992
rs587782992
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
A 0.700 CausalMutation CLINVAR
dbSNP: rs587782993
rs587782993
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
T 0.700 CausalMutation CLINVAR
dbSNP: rs587782994
rs587782994
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
G 0.700 CausalMutation CLINVAR
dbSNP: rs587782995
rs587782995
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
C 0.700 CausalMutation CLINVAR
dbSNP: rs587782996
rs587782996
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
G 0.700 CausalMutation CLINVAR
dbSNP: rs587782997
rs587782997
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
G 0.700 CausalMutation CLINVAR
dbSNP: rs587782998
rs587782998
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
A 0.700 CausalMutation CLINVAR
dbSNP: rs587782999
rs587782999
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
C 0.700 CausalMutation CLINVAR
dbSNP: rs587783000
rs587783000
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
A 0.700 CausalMutation CLINVAR
dbSNP: rs587783001
rs587783001
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0454644
Disease:
Delayed speech and language development
C 0.700 CausalMutation CLINVAR
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. 22711443 2012
dbSNP: rs1554129039
rs1554129039
Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469 2015