rs80338796, RAF1

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. 19437094 2009
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993 2012
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993 2012
CARDIOMYOPATHY, DILATED, 1NN
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
0.700 CausalMutation CLINVAR
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478 2014
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
Cardiac Hypertrophy
CUI: C1383860
Disease: Cardiac Hypertrophy
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437 2012
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
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Recent advances in RASopathies. 26446362 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 22389993 2012
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
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
0.700 CausalMutation CLINVAR
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 26903553 2016
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
0.700 CausalMutation CLINVAR
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
0.700 CausalMutation CLINVAR
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.700 CausalMutation CLINVAR