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: 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: 115482696
Gene Symbol: H3P23
H3P23
H3 histone pseudogene 23 0.443 0.769
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1999 1999
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: 8102
Gene Symbol: XRS
XRS
X-ray sensitivity 0.716 0.500
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None < 0.001 1 0 1987 1987
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: 1565
Gene Symbol: CYP2D6
CYP2D6
cytochrome P450 family 2 subfamily D member 6 0.437 0.885 1.1E-25
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 1543
Gene Symbol: CYP1A1
CYP1A1
cytochrome P450 family 1 subfamily A member 1 0.436 0.846 1.1E-17
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 2006 2006
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: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1987 1987
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: 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: 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: 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: 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: 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: 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: 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: 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: 10534
Gene Symbol: ZNRD2
ZNRD2
zinc ribbon domain containing 2 0.443 0.769 1.8E-07
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.010 None 1.000 1 0 1999 1999
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: 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: 4920
Gene Symbol: ROR2
ROR2
receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.020 None 1.000 2 0 2003 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: 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