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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.190 None 1.000 13 13 2001 2019
Entrez Id: 182
Gene Symbol: JAG1
JAG1
jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.140 None 1.000 4 1 1999 2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.130 None 1.000 3 3 2010 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.120 None 1.000 2 0 2013 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.110 None 1.000 3 3 2006 2011
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.110 None 1.000 1 0 2008 2008
Entrez Id: 3490
Gene Symbol: IGFBP7
IGFBP7
insulin like growth factor binding protein 7 0.476 0.769 1.3E-03
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.110 None 1.000 1 0 2011 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 1.000 9 1 2005 2009
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 1.000 1 1 2008 2008
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 1
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2 0.608 0.692 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 1
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 6155
Gene Symbol: RPL27
RPL27
ribosomal protein L27 0.769 0.385 0.85
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 3
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease 0.100 None 0 0