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: 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: 5788
Gene Symbol: PTPRC
PTPRC
protein tyrosine phosphatase receptor type C 0.435 0.808 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 2638
Gene Symbol: GC
GC
GC vitamin D binding protein 0.489 0.885 2.7E-11
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 1985 1985
Entrez Id: 4162
Gene Symbol: MCAM
MCAM
melanoma cell adhesion molecule 0.514 0.731 1.6E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 7038
Gene Symbol: TG
TG
thyroglobulin 0.480 0.808 2.9E-59
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
solute carrier family 6 member 4 0.429 0.808 0.25
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 1 2007 2007
Entrez Id: 10252
Gene Symbol: SPRY1
SPRY1
sprouty RTK signaling antagonist 1 0.603 0.577 3.0E-03
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2009 2009
Entrez Id: 929
Gene Symbol: CD14
CD14
CD14 molecule 0.392 0.885 4.9E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2018 2018
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: 5340
Gene Symbol: PLG
PLG
plasminogen 0.389 0.923 1.0E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2006 2006
Entrez Id: 7070
Gene Symbol: THY1
THY1
Thy-1 cell surface antigen 0.496 0.808 5.0E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.010 None < 0.001 1 0 2018 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: 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: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.020 None 0.500 2 0 2009 2011
Entrez Id: 2124
Gene Symbol: EVI2B
EVI2B
ecotropic viral integration site 2B 0.861 0.154 6.3E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.020 None 0.500 2 0 1991 1999
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: 3214
Gene Symbol: HOXB4
HOXB4
homeobox B4 0.647 0.423 6.0E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.030 None 0.667 3 0 1987 1989
Entrez Id: 3213
Gene Symbol: HOXB3
HOXB3
homeobox B3 0.631 0.615 0.89
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.030 None 0.667 3 0 1987 1989
Entrez Id: 3212
Gene Symbol: HOXB2
HOXB2
homeobox B2 0.612 0.577 1.5E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.030 None 0.667 3 0 1987 1989
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1
homeobox B1 0.633 0.538 8.2E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.030 None 0.667 3 0 1987 1989
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.030 None 0.667 3 3 2008 2013
Entrez Id: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.030 None 0.667 3 0 1995 2002
Entrez Id: 3219
Gene Symbol: HOXB9
HOXB9
homeobox B9 0.572 0.654 0.31
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 0.030 None 0.667 3 0 1987 1989