rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Orthopaedic conditions in Ras/MAPK related disorders.
21654472
2011
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
CFC index for the diagnosis of cardiofaciocutaneous syndrome.
12239713
2002
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
16474404
2006
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.
20958325
2010
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.
22589294
2012
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.
27862862
2017
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
17704260
2007
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
25423878
2015
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
MEK genomics in development and disease.
22753777
2012
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.
12529707
2003
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Autism traits in the RASopathies.
24101678
2014
rs121908595
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
19156172
2009