rs80338758, MED12

N. diseases: 12
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.
FG syndrome
CUI: C0220769
Disease: FG syndrome
12 0.790 0.400 X 71127367 missense variant C/A;T snv 0.860 1.000 6 2007 2011
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
11 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
Lujan Fryns syndrome
CUI: C0796022
Disease: Lujan Fryns syndrome
3 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
Ohdo syndrome, Maat-Kievit-Brunner type
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
5 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.400 X 71127367 missense variant C/A;T snv 0.700 0
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.790 0.400 X 71127367 missense variant C/A;T snv 0.010 1.000 1 2008 2008
Congenital malformation syndrome
CUI: C1302790
Disease: Congenital malformation syndrome
2 0.790 0.400 X 71127367 missense variant C/A;T snv 0.010 1.000 1 2011 2011
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.790 0.400 X 71127367 missense variant C/A;T snv 0.010 1.000 1 2011 2011