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: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.060 None 1.000 6 4 1999 2008
Entrez Id: 2123
Gene Symbol: EVI2A
EVI2A
ecotropic viral integration site 2A 0.821 0.231 2.0E-03
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 1990 1995
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 2006 2017
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
p21 (RAC1) activated kinase 1 0.494 0.808 1.3E-03
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 2004 2019
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 1995 2017
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 2006 2017
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 2006 2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 2004 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 1989 2018
Entrez Id: 353
Gene Symbol: APRT
APRT
adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 2007 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 0.800 5 0 2005 2018
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
microfibril associated protein 1 0.431 0.846 0.80
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.050 None 1.000 5 0 2007 2019
Entrez Id: 1808
Gene Symbol: DPYSL2
DPYSL2
dihydropyrimidinase like 2 0.585 0.692 0.99
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 2008 2018
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2
EPH receptor B2 0.374 0.846 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 2011 2018
Entrez Id: 4804
Gene Symbol: NGFR
NGFR
nerve growth factor receptor 0.477 0.846 9.8E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 0.500 4 0 1987 2018
Entrez Id: 4974
Gene Symbol: OMG
OMG
oligodendrocyte myelin glycoprotein 0.716 0.462 0.97
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 1994 2000
Entrez Id: 238
Gene Symbol: ALK
ALK
ALK receptor tyrosine kinase 0.396 0.846 3.2E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 2011 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 2 2002 2010
Entrez Id: 7067
Gene Symbol: THRA
THRA
thyroid hormone receptor alpha 0.566 0.769 0.33
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 1987 1989
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 2012 2020
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 2011 2018
Entrez Id: 645
Gene Symbol: BLVRB
BLVRB
biliverdin reductase B 0.695 0.423 4.2E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 1993 1995
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
C-X-C motif chemokine ligand 12 0.379 0.846 0.12
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 0.750 4 0 2007 2018
Entrez Id: 6285
Gene Symbol: S100B
S100B
S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 0.500 4 0 2000 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.040 None 1.000 4 0 1995 2017