Source: CLINVAR

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 4 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 0 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 0 3 2010 2017
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 2 3 2006 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: 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: 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: 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: 8239
Gene Symbol: USP9X
USP9X 		ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 1
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: 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: 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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 1
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1 		transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 2
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 2
Entrez Id: 116115
Gene Symbol: ZNF526
ZNF526 		zinc finger protein 526 0.890 0.192 0.52
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 1