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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.060 None 1.000 6 0 1994 2015
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.030 None 1.000 3 0 1999 2010
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: 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: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None < 0.001 1 0 2002 2002
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: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2944
Gene Symbol: GSTM1
GSTM1
glutathione S-transferase mu 1 0.380 0.923 2.1E-03
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1995 1995
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: 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: 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: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.020 None 0.500 2 0 1999 2004
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: 2952
Gene Symbol: GSTT1
GSTT1
glutathione S-transferase theta 1 0.393 0.923 1.5E-04
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2006 2006
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: 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: 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: 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: 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
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
cytochrome P450 family 2 subfamily B member 6 0.428 0.846 1.9E-10
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
GLI family zinc finger 1 0.431 0.846 7.7E-14
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.050 None 1.000 5 1 2004 2019
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