rs587782995, PURA

N. diseases: 42
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
29 0.708 0.360 5 140114480 missense variant T/C snv 0.800 1.000 2 2014 2014
Abnormal muscle tone
CUI: C0852413
Disease: Abnormal muscle tone
7 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Abnormal visual evoked potential
CUI: C0522214
Disease: Abnormal visual evoked potential
5 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Actual Aspiration
CUI: C2712334
Disease: Actual Aspiration
8 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Aplasia/Hypoplasia of the clavicles
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
1 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Birth length greater than 97th percentile
CUI: C1839271
Disease: Birth length greater than 97th percentile
2 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
9 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Coxa valga
CUI: C0239137
Disease: Coxa valga
5 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
EEG with generalized slow activity
CUI: C4021217
Disease: EEG with generalized slow activity
6 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
EEG with spike-wave complexes
CUI: C4023683
Disease: EEG with spike-wave complexes
1 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Generalized joint laxity
CUI: C1836308
Disease: Generalized joint laxity
6 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Hematoma, Subdural
CUI: C0018946
Disease: Hematoma, Subdural
1 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Hyperopic astigmatism
CUI: C1847524
Disease: Hyperopic astigmatism
5 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
Hypertyrosinemia
CUI: C1879362
Disease: Hypertyrosinemia
2 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0