rs398122394, ALG13

N. diseases: 17
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
2 0.763 0.240 X 111685040 missense variant A/G snv 0.800 1.000 9 2012 2016
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.763 0.240 X 111685040 missense variant A/G snv 0.710 1.000 1 2016 2016
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
Chorea
CUI: C0008489
Disease: Chorea
20 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
Hypophosphatemia
CUI: C0085682
Disease: Hypophosphatemia
5 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
Impaired pain sensation
CUI: C1837522
Disease: Impaired pain sensation
4 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
Seizures
CUI: C0036572
Disease: Seizures
553 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
13 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
Motor retardation
CUI: C0424230
Disease: Motor retardation
8 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.763 0.240 X 111685040 missense variant A/G snv 0.010 1.000 1 2016 2016