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
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 GeneticVariation CLINVAR Downgrading of arts-centered education in state schools. 1760348 1992
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510 2006
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510 2006
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510 2006
Noonan Syndrome 5
CUI: C1969057
Disease: Noonan Syndrome 5
0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
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
Cardiac Hypertrophy
CUI: C1383860
Disease: Cardiac Hypertrophy
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
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
Gastroesophageal reflux disease
CUI: C0017168
Disease: Gastroesophageal reflux disease
0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007