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: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
disease 0.700 None 1.000 33 26 2001 2018
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
disease 0.500 strong 1.000 1 0 2007 2007
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
EPH receptor A2 0.501 0.731 1.1E-05
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
disease 0.300 None 1.000 1 0 2001 2001
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
disease 0.300 strong 1.000 1 0 2009 2009