rs80338796, RAF1

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
0.800 CausalMutation CLINVAR
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
0.800 CausalMutation CLINVAR
Single umbilical artery
CUI: C1384670
Disease: Single umbilical artery
0.700 CausalMutation CLINVAR
CARDIOMYOPATHY, DILATED, 1NN
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
0.700 CausalMutation CLINVAR
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
0.700 CausalMutation CLINVAR
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
0.700 CausalMutation CLINVAR
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
0.700 CausalMutation CLINVAR
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.700 CausalMutation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 CausalMutation CLINVAR
High forehead
CUI: C0239676
Disease: High forehead
0.700 CausalMutation CLINVAR
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
0.700 CausalMutation CLINVAR
Strabismus
CUI: C0038379
Disease: Strabismus
0.700 CausalMutation CLINVAR
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
0.700 CausalMutation CLINVAR
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113 2013
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113 2013
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
0.010 GeneticVariation BEFREE Approaching the facts between genetic mutation and clinical practice of hypertrophic cardiomyopathy: A case report with RAF1 770C>T mutant. 27631234 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 GeneticVariation CLINVAR Downgrading of arts-centered education in state schools. 1760348 1992
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
LEOPARD SYNDROME 2
CUI: C1969056
Disease: LEOPARD SYNDROME 2
0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007