rs80338796, RAF1

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
0.010 GeneticVariation BEFREE We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. 25706034 2015
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 CausalMutation CLINVAR Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. 29084544 2017
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Recent advances in RASopathies. 26446362 2016
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
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 26903553 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Recent advances in RASopathies. 26446362 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Recent advances in RASopathies. 26446362 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 26903553 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.700 CausalMutation CLINVAR Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 25706034 2015
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. 25706034 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 23877478 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450 2014