rs80358284, PRSS23;FZD4

N. diseases: 10
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.
Exudative vitreoretinopathy 1
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
28 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.800 1.000 13 2002 2010
Familial Exudative Vitreoretinopathy
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
18 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 1.000 7 2003 2016
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
Exudative retinopathy
CUI: C0154832
Disease: Exudative retinopathy
6 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
Norrie disease
CUI: C0266526
Disease: Norrie disease
28 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
Retinal Detachment
CUI: C0035305
Disease: Retinal Detachment
10 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
Retinal Dysplasia
CUI: C0035313
Disease: Retinal Dysplasia
2 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0