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: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 1.000 2 1 2007 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C2673410
Disease: Small midface
Small midface 		phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		disease 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 2 1 2007 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease 0.100 None 1.000 2 1 2007 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		phenotype 0.100 None 1.000 2 1 2007 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C4020951
Disease: Pointed helix
Pointed helix 		phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 1.000 2 1 2007 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 1.000 2 1 2007 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		disease 0.910 strong 1.000 0 8 2007 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		disease 0.110 None 1.000 1 1 1994 2012
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease 0.400 None 1.000 0 1 2007 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 1.000 29 19 1992 2019
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 15 1 2006 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 15 2 2006 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.500 None 1.000 1 2 2002 2019
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 1
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		disease 0.700 strong 1.000 0 6 2007 2013
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.770 limited 1.000 6 4 2007 2019