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: 114
Gene Symbol: ADCY8
ADCY8
adenylate cyclase 8 0.705 0.577 1.8E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 133
Gene Symbol: ADM
ADM
adrenomedullin 0.436 0.808 4.1E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 10840
Gene Symbol: ALDH1L1
ALDH1L1
aldehyde dehydrogenase 1 family member L1 0.663 0.615 1.4E-11
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2008 2008
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: 270
Gene Symbol: AMPD1
AMPD1
adenosine monophosphate deaminase 1 0.573 0.692 1.9E-21
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 290
Gene Symbol: ANPEP
ANPEP
alanyl aminopeptidase, membrane 0.462 0.769 3.7E-09
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 339
Gene Symbol: APOBEC1
APOBEC1
apolipoprotein B mRNA editing enzyme catalytic subunit 1 0.647 0.385 1.7E-08
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.020 None 1.000 2 0 2000 2002
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2006 2006
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: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 40
Gene Symbol: ASIC2
ASIC2
acid sensing ion channel subunit 2 0.653 0.538 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 79915
Gene Symbol: ATAD5
ATAD5
ATPase family AAA domain containing 5 0.711 0.385 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.020 None 1.000 2 0 2016 2020
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.030 None 1.000 3 0 2018 2020
Entrez Id: 6790
Gene Symbol: AURKA
AURKA
aurora kinase A 0.475 0.731 0.87
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 332
Gene Symbol: BIRC5
BIRC5
baculoviral IAP repeat containing 5 0.495 0.731 5.6E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None 1.000 1 0 2006 2006
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: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.020 None 1.000 2 0 2013 2018
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2019 2019
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: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.020 None 1.000 2 0 2002 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.020 None 1.000 2 0 2002 2016