Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
HNF1 homeobox A 0.478 0.846 0.96
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.700 definitive 1.000 0 0 1996 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.600 definitive 0.964 0 0 1996 2019
Entrez Id: 2645
Gene Symbol: GCK
GCK
glucokinase 0.523 0.808 0.63
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.500 strong 0.977 0 0 2002 2019
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.445 0.923 0.30
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.410 strong 1.000 0 0 2007 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.410 None 1.000 0 0 1990 2013
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.340 strong 1.000 0 0 2009 2018
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.473 0.808 1.00
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.330 None 1.000 0 0 2015 2019
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.320 None 1.000 0 0 2018 2019
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
pancreatic and duodenal homeobox 1 0.530 0.654 1.8E-02
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.320 None 1.000 0 0 2017 2018
Entrez Id: 4760
Gene Symbol: NEUROD1
NEUROD1
neuronal differentiation 1 0.543 0.808 0.77
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.310 strong 1.000 2 0 2010 2019
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.310 None 1.000 0 0 2013 2013
Entrez Id: 3643
Gene Symbol: INSR
INSR
insulin receptor 0.432 0.846 3.6E-05
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.310 None 1.000 0 0 2016 2016
Entrez Id: 8462
Gene Symbol: KLF11
KLF11
Kruppel like factor 11 0.626 0.654 8.3E-09
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.310 limited 1.000 0 0 2018 2018
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.300 None 0 0
Entrez Id: 640
Gene Symbol: BLK
BLK
BLK proto-oncogene, Src family tyrosine kinase 0.585 0.769 8.3E-14
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.300 limited 0 0
Entrez Id: 5078
Gene Symbol: PAX4
PAX4
paired box 4 0.644 0.423 4.2E-04
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease 0.300 limited 0 0