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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 2619
Gene Symbol: GAS1
GAS1 		growth arrest specific 1 0.587 0.654 0.82
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.010 None 1.000 1 0 1995 1995
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 51014
Gene Symbol: TMED7
TMED7 		transmembrane p24 trafficking protein 7 0.436 0.808 0.48
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 0.010 None 1.000 1 0 1999 1999