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.
Martin-Probst Deafness-Mental Retardation Syndrome
CUI: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
1 0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03 0.700 0
Deafness and intellectual disability Martin Probst type syndrome
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
1 0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03 0.040 1.000 4 2012 2015
Hearing Loss, Bilateral
CUI: C0018775
Disease: Hearing Loss, Bilateral
1 0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03 0.010 1.000 1 2015 2015
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03 0.010 1.000 1 2015 2015
Neurodevelopmental Disorders
CUI: C1535926
Disease: Neurodevelopmental Disorders
14 0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03 0.010 1.000 1 2014 2014