rs61752115, PEX13

N. diseases: 7
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.
PEROXISOME BIOGENESIS DISORDER 11B
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
2 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.800 1.000 2 1999 1999
Adrenoleukodystrophy, Neonatal
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
2 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
Gilles de la Tourette syndrome
CUI: C0040517
Disease: Gilles de la Tourette syndrome
63 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
9 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
Tricuspid Valve Stenosis
CUI: C0040963
Disease: Tricuspid Valve Stenosis
1 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
Fever
CUI: C0015967
Disease: Fever
66 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005