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: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None < 0.001 1 0 1996 1996
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
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3429
Gene Symbol: IFI27
IFI27
interferon alpha inducible protein 27 0.437 0.769 1.1E-02
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1999 1999
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: 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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.020 None 1.000 2 0 1987 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: 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: 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: 57534
Gene Symbol: MIB1
MIB1
mindbomb E3 ubiquitin protein ligase 1 0.438 0.769 3.4E-88
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4288
Gene Symbol: MKI67
MKI67
marker of proliferation Ki-67 0.431 0.808 1.3E-28
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4314
Gene Symbol: MMP3
MMP3
matrix metallopeptidase 3 0.408 0.885 5.7E-15
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1987 1987
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: 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: 5111
Gene Symbol: PCNA
PCNA
proliferating cell nuclear antigen 0.382 0.846 0.98
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.020 None 1.000 2 0 1999 2002
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: 5266
Gene Symbol: PI3
PI3
peptidase inhibitor 3 0.570 0.692 0.17
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5715
Gene Symbol: PSMD9
PSMD9
proteasome 26S subunit, non-ATPase 9 0.435 0.846 4.9E-06
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 1.000 definitive 0.994 170 109 1960 2020
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
patched 2 0.563 0.692 3.4E-16
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.770 limited 1.000 11 2 1985 2017
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: 5774
Gene Symbol: PTPN3
PTPN3
protein tyrosine phosphatase non-receptor type 3 0.647 0.462 6.7E-09
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
RAB23, member RAS oncogene family 0.541 0.654 5.6E-03
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2006 2006