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: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 1.000 None 0.976 423 15 1977 2020
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1
sprouty related EVH1 domain containing 1 0.644 0.577 0.97
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.400 None 0.864 22 0 2007 2020
Entrez Id: 4771
Gene Symbol: NF2
NF2
neurofibromin 2 0.468 0.885 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.300 None 1.000 14 0 1996 2020
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 0.974 38 2 1990 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 0.929 28 0 1990 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 0.938 16 2 2009 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 1.000 15 0 2004 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 0.933 15 2 1996 2015
Entrez Id: 9628
Gene Symbol: RGS6
RGS6
regulator of G protein signaling 6 0.564 0.769 0.44
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 1.000 14 0 1992 2018
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 0.929 14 0 2002 2015
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 1.000 13 0 1999 2019
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.100 None 1.000 13 0 2005 2017
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.090 None 1.000 9 0 2005 2017
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
mannose receptor C-type 1 0.413 0.846 0.94
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.090 None 1.000 9 1 2004 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.080 None 0.875 8 0 1995 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.080 None 1.000 8 0 2003 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.080 None 1.000 8 0 1992 2019
Entrez Id: 5609
Gene Symbol: MAP2K7
MAP2K7
mitogen-activated protein kinase kinase 7 0.419 0.808 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.080 None 1.000 8 0 2013 2020
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.080 None 0.875 8 0 2000 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.080 None 1.000 8 0 2006 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.070 None 1.000 7 0 2005 2019
Entrez Id: 23512
Gene Symbol: SUZ12
SUZ12
SUZ12 polycomb repressive complex 2 subunit 0.529 0.577 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.070 None 1.000 7 0 2004 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.070 None 1.000 7 0 2009 2016
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.060 None 0.667 6 0 1987 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
single-strand-selective monofunctional uracil-DNA glycosylase 1 0.322 0.923 4.5E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.060 None 1.000 6 0 2017 2019