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: 4214
Gene Symbol: MAP3K1
MAP3K1
mitogen-activated protein kinase kinase kinase 1 0.538 0.731 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
desmoglein 2 0.601 0.692 2.8E-10
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10630
Gene Symbol: PDPN
PDPN
podoplanin 0.470 0.769 3.2E-04
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 79776
Gene Symbol: ZFHX4
ZFHX4
zinc finger homeobox 4 0.743 0.269 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.466 0.808 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6515
Gene Symbol: SLC2A3
SLC2A3
solute carrier family 2 member 3 0.534 0.769 1.0E-02
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 216
Gene Symbol: ALDH1A1
ALDH1A1
aldehyde dehydrogenase 1 family member A1 0.460 0.846 0.95
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 9113
Gene Symbol: LATS1
LATS1
large tumor suppressor kinase 1 0.563 0.731 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
BRCA1 associated protein 1 0.454 0.731 0.99
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None < 0.001 1 0 2015 2015
Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
TERT 5' regulatory region 0.464 0.731
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5741
Gene Symbol: PTH
PTH
parathyroid hormone 0.397 0.846 1.2E-02
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 891
Gene Symbol: CCNB1
CCNB1
cyclin B1 0.512 0.731 0.16
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2638
Gene Symbol: GC
GC
GC vitamin D binding protein 0.489 0.885 2.7E-11
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4684
Gene Symbol: NCAM1
NCAM1
neural cell adhesion molecule 1 0.415 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 581
Gene Symbol: BAX
BAX
BCL2 associated X, apoptosis regulator 0.417 0.885 0.32
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
keratin 14 0.530 0.731 2.0E-04
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.040 None 1.000 4 0 2008 2020
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
melanocortin 1 receptor 0.524 0.808 8.1E-11
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6869
Gene Symbol: TACR1
TACR1
tachykinin receptor 1 0.502 0.885 3.8E-04
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6863
Gene Symbol: TAC1
TAC1
tachykinin precursor 1 0.424 0.923 0.75
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 10855
Gene Symbol: HPSE
HPSE
heparanase 0.425 0.808 2.3E-14
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2007 2007