Source: ALL

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: 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: 51684
Gene Symbol: SUFU
SUFU 		SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 None 0.938 16 12 2006 2018
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: 2736
Gene Symbol: GLI2
GLI2 		GLI family zinc finger 2 0.446 0.846 0.97
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.300 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: 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: 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: 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: 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: 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: 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: 6469
Gene Symbol: SHH
SHH 		sonic hedgehog signaling molecule 0.461 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: 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: 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: 5726
Gene Symbol: TAS2R38
TAS2R38 		taste 2 receptor member 38 0.531 0.808 0.13
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.020 None 0.500 2 0 1999 2004
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6 		coiled-coil domain containing 6 0.517 0.808 0.58
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.020 None 0.500 2 0 1999 2004
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.020 None 1.000 2 0 1996 1996
Entrez Id: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 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: 6613
Gene Symbol: SUMO2
SUMO2 		small ubiquitin like modifier 2 0.666 0.615 0.87
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.010 None 1.000 1 0 2005 2005
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: 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: 353376
Gene Symbol: TICAM2
TICAM2 		toll like receptor adaptor molecule 2 0.438 0.769 2.6E-03
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.010 None 1.000 1 0 1999 1999
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: 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: 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