Source: BEFREE

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: 26871
Gene Symbol: RNU1-1
RNU1-1
RNA, U1 small nuclear 1 0.608 0.731
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 55576
Gene Symbol: STAB2
STAB2
stabilin 2 0.743 0.423 9.2E-62
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 22915
Gene Symbol: MMRN1
MMRN1
multimerin 1 0.465 0.846 2.1E-25
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
protein tyrosine phosphatase non-receptor type 22 0.438 0.846 3.5E-21
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1950
Gene Symbol: EGF
EGF
epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 64788
Gene Symbol: LMF1
LMF1
lipase maturation factor 1 0.769 0.231 5.1E-16
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.460 None 1.000 6 0 2003 2016
Entrez Id: 5105
Gene Symbol: PCK1
PCK1
phosphoenolpyruvate carboxykinase 1 0.608 0.538 8.7E-15
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 27329
Gene Symbol: ANGPTL3
ANGPTL3
angiopoietin like 3 0.584 0.577 1.6E-13
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23175
Gene Symbol: LPIN1
LPIN1
lipin 1 0.601 0.692 6.5E-13
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.300 None 0.909 10 0 2001 2019
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
calcium voltage-gated channel subunit alpha1 S 0.595 0.692 6.3E-12
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
follicle stimulating hormone receptor 0.539 0.654 1.4E-11
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51129
Gene Symbol: ANGPTL4
ANGPTL4
angiopoietin like 4 0.498 0.731 2.3E-11
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1
perilipin 1 0.590 0.654 3.1E-11
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.140 None 0.750 4 0 2011 2019
Entrez Id: 4925
Gene Symbol: NUCB2
NUCB2
nucleobindin 2 0.540 0.731 2.0E-10
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.700 None 1.000 15 1 2002 2019
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
adiponectin, C1Q and collagen domain containing 0.376 0.885 4.6E-09
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.100 None 1.000 15 0 2003 2019
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 1 2008 2008
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
progestagen associated endometrial protein 0.430 0.846 3.1E-08
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017