×
Entrez Id:
123263
Gene Symbol:
MTFMT
MTFMT
Short stature
0.100
CausalMutation
CLINVAR
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
21907147
2011
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Short stature
0.100
CausalMutation
CLINVAR
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
20142534
2010
×
Entrez Id:
8036
Gene Symbol:
SHOC2
SHOC2
Short stature
0.100
GeneticVariation
CLINVAR
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
19684605
2009
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
18372317
2008
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
Short stature
0.100
CausalMutation
CLINVAR
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
17603482
2007
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Short stature
0.100
CausalMutation
CLINVAR
Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene.
17875939
2007
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
Short stature
0.100
CausalMutation
CLINVAR
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
17603483
2007
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
Short stature
0.100
CausalMutation
CLINVAR
Germline KRAS mutations cause Noonan syndrome.
16474405
2006
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
15928039
2005
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
Genotype-phenotype correlations in Noonan syndrome.
15001945
2004
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
12717436
2003
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001
×
Entrez Id:
5476
Gene Symbol:
CTSA
CTSA
Short stature
0.100
CausalMutation
CLINVAR
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
10944848
2000
×
Entrez Id:
5476
Gene Symbol:
CTSA
CTSA
Short stature
0.100
CausalMutation
CLINVAR
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
8968752
1996
×
Entrez Id:
9862
Gene Symbol:
MED24
MED24
Short stature
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
Short stature
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
8532
Gene Symbol:
CPZ
CPZ
Short stature
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
57504
Gene Symbol:
MTA3
MTA3
Short stature
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
54551
Gene Symbol:
MAGEL2
MAGEL2
Short stature
0.100
CausalMutation
CLINVAR
×
Entrez Id:
220001
Gene Symbol:
VWCE
VWCE
Short stature
0.100
CausalMutation
CLINVAR
×
Entrez Id:
1294
Gene Symbol:
COL7A1
COL7A1
Short stature
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Short stature
0.100
CausalMutation
CLINVAR
×
Entrez Id:
8467
Gene Symbol:
SMARCA5
SMARCA5
Short stature
0.100
GeneticVariation
CLINVAR