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: 201163
Gene Symbol: FLCN
FLCN
folliculin 0.537 0.885 0.79
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 1.000 definitive 0.968 124 90 2002 2020
Entrez Id: 23164
Gene Symbol: MPRIP
MPRIP
myosin phosphatase Rho interacting protein 0.556 0.885 0.98
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.100 None 1.000 34 36 2002 2018
Entrez Id: 50947
Gene Symbol: BHD
BHD
Beukes familial hip dysplasia 0.678 0.385
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.090 None 1.000 9 0 2003 2010
Entrez Id: 4233
Gene Symbol: MET
MET
MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.020 None 0.500 2 0 1999 2003
Entrez Id: 260431
Gene Symbol: COPD
COPD
Pulmonary disease, chronic obstructive, severe early-onset 0.456 0.885
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 85464
Gene Symbol: SSH2
SSH2
slingshot protein phosphatase 2 0.821 0.269 1.00
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 83605
Gene Symbol: CCM2
CCM2
CCM2 scaffold protein 0.636 0.385 9.3E-03
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57600
Gene Symbol: FNIP2
FNIP2
folliculin interacting protein 2 0.760 0.231 1.00
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3855
Gene Symbol: KRT7
KRT7
keratin 7 0.463 0.808 3.1E-12
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2833
Gene Symbol: CXCR3
CXCR3
C-X-C motif chemokine receptor 3 0.436 0.808 0.18
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 96459
Gene Symbol: FNIP1
FNIP1
folliculin interacting protein 1 0.743 0.346 1.00
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 0.010 None 1.000 1 0 2012 2012