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: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.700 None 1.000 0 0 2000 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.500 None 0.988 0 0 2004 2019
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.445 0.923 0.30
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.500 None 1.000 0 0 2008 2020
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3
GLIS family zinc finger 3 0.590 0.654 5.6E-08
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.400 None 1.000 0 0 2006 2018
Entrez Id: 2645
Gene Symbol: GCK
GCK
glucokinase 0.523 0.808 0.63
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.400 strong 1.000 0 0 2003 2018
Entrez Id: 9451
Gene Symbol: EIF2AK3
EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3 0.501 0.808 2.8E-03
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.380 None 1.000 0 0 2004 2015
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
GATA binding protein 6 0.478 0.808 1.00
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.360 strong 1.000 1 0 2012 2019
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
pancreatic and duodenal homeobox 1 0.530 0.654 1.8E-02
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.340 None 1.000 0 0 2003 2013
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57
ZFP57 zinc finger protein 0.650 0.577 5.5E-04
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.340 None 1.000 0 0 2008 2013
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
regulatory factor X6 0.686 0.385 4.1E-04
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.340 None 1.000 0 0 2011 2015
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
solute carrier family 2 member 2 0.572 0.692 3.4E-08
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.330 strong 1.000 1 0 2002 2012
Entrez Id: 3110
Gene Symbol: MNX1
MNX1
motor neuron and pancreas homeobox 1 0.555 0.615 0.79
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.330 strong 1.000 1 0 2013 2018
Entrez Id: 50674
Gene Symbol: NEUROG3
NEUROG3
neurogenin 3 0.647 0.500 6.0E-06
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.330 None 1.000 0 0 2011 2018
Entrez Id: 4760
Gene Symbol: NEUROD1
NEUROD1
neuronal differentiation 1 0.543 0.808 0.77
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.330 None 1.000 0 0 2010 2014
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.320 strong 1.000 1 0 2015 2017
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
forkhead box P3 0.368 0.846 0.99
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.320 strong 1.000 0 0 2007 2009
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
HNF1 homeobox B 0.473 0.808 1.00
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.320 None 1.000 0 0 2006 2016
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A
pancreas associated transcription factor 1a 0.601 0.692 0.17
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.320 None 1.000 0 0 2015 2015
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
GATA binding protein 4 0.458 0.846 0.49
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.310 strong 1.000 1 0 2010 2014
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
solute carrier family 19 member 2 0.636 0.692 4.3E-04
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.310 strong 1.000 1 0 2007 2012
Entrez Id: 51124
Gene Symbol: IER3IP1
IER3IP1
immediate early response 3 interacting protein 1 0.711 0.423 2.3E-02
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.310 strong 1.000 1 0 2014 2014
Entrez Id: 4821
Gene Symbol: NKX2-2
NKX2-2
NK2 homeobox 2 0.678 0.269 0.41
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.310 strong 1.000 1 0 2014 2014
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
interleukin 2 receptor subunit alpha 0.389 0.885 5.5E-02
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 3643
Gene Symbol: INSR
INSR
insulin receptor 0.432 0.846 3.6E-05
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.300 strong 0 0
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease 0.300 limited 0 0