rs80356611, KCNJ11

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.
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
108 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.810 1.000 13 2004 2017
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
33 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 2006 2006
DEND syndrome
CUI: C4303593
Disease: DEND syndrome
8 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
Developmental Delay, Epilepsy, and Neonatal Diabetes
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
5 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
K ATP Permanent Neonatal Diabetes
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
2 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015