Source: HPO

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: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.150 None 1.000 0 0 2002 2015
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.120 None 1.000 0 0 2010 2012
Entrez Id: 25778
Gene Symbol: DSTYK
DSTYK 		dual serine/threonine and tyrosine protein kinase 0.700 0.462 0.51
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0
Entrez Id: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		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: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0
Entrez Id: 4254
Gene Symbol: KITLG
KITLG 		KIT ligand 0.473 0.885 0.85
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0
Entrez Id: 7299
Gene Symbol: TYR
TYR 		tyrosinase 0.473 0.808 5.0E-32
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease 0.100 None 0 0