|
| Entrez Id: |
25942 |
| Gene Symbol: |
SIN3A |
SIN3A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
|
30267900 |
2019 |
|
| Entrez Id: |
8506 |
| Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
| Entrez Id: |
51053 |
| Gene Symbol: |
GMNN |
GMNN
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Genotype differences in cognitive functioning in Noonan syndrome.
|
19077116 |
2009 |
|
| Entrez Id: |
5894 |
| Gene Symbol: |
RAF1 |
RAF1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
|
| Entrez Id: |
5894 |
| Gene Symbol: |
RAF1 |
RAF1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Noonan syndrome and related disorders: genetics and pathogenesis.
|
16124853 |
2005 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
| Entrez Id: |
134218 |
| Gene Symbol: |
DNAJC21 |
DNAJC21
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2245 |
| Gene Symbol: |
FGD1 |
FGD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6651 |
| Gene Symbol: |
SON |
SON
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55975 |
| Gene Symbol: |
KLHL7 |
KLHL7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
ZMPSTE24
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3020 |
| Gene Symbol: |
H3-3A |
H3-3A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8813 |
| Gene Symbol: |
DPM1 |
DPM1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5718 |
| Gene Symbol: |
PSMD12 |
PSMD12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26235 |
| Gene Symbol: |
FBXL4 |
FBXL4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4297 |
| Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51741 |
| Gene Symbol: |
WWOX |
WWOX
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
545 |
| Gene Symbol: |
ATR |
ATR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|