Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.600 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.410 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0239676
Disease: High forehead
High forehead 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4020951
Disease: Pointed helix
Pointed helix 		0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR 14-3-3 antagonizes Ras-mediated Raf-1 recruitment to the plasma membrane to maintain signaling fidelity. 12077328

2002
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113

2013