|
| 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: |
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: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
| 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: |
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: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
Short stature
|
0.100 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
49855 |
| Gene Symbol: |
SCAPER |
SCAPER
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
|
30723319 |
2019 |
|
| 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: |
5428 |
| Gene Symbol: |
POLG |
POLG
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
|
20883824 |
2011 |
|
| Entrez Id: |
123263 |
| Gene Symbol: |
MTFMT |
MTFMT
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
| Entrez Id: |
8036 |
| Gene Symbol: |
SHOC2 |
SHOC2
|
Short stature
|
0.100 |
GeneticVariation |
CLINVAR |
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
|
22528146 |
2012 |
|
| Entrez Id: |
23498 |
| Gene Symbol: |
HAAO |
HAAO
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
|
| 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: |
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: |
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: |
23233 |
| Gene Symbol: |
EXOC6B |
EXOC6B
|
Short stature
|
0.100 |
GeneticVariation |
CLINVAR |
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
|
25256811 |
2014 |
|
| 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: |
25 |
| Gene Symbol: |
ABL1 |
ABL1
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
|
28288113 |
2017 |
|
| Entrez Id: |
3845 |
| Gene Symbol: |
KRAS |
KRAS
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
Germline KRAS mutations cause Noonan syndrome.
|
16474405 |
2006 |
|
| Entrez Id: |
3845 |
| Gene Symbol: |
KRAS |
KRAS
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
20949621 |
2011 |
|
| 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: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Short stature
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
| 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: |
23363 |
| Gene Symbol: |
OBSL1 |
OBSL1
|
Short stature
|
0.100 |
GeneticVariation |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |