Entrez Id: |
8289 |
Gene Symbol: |
ARID1A |
ARID1A
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
4297 |
Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
79053 |
Gene Symbol: |
ALG8 |
ALG8
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2475 |
Gene Symbol: |
MTOR |
MTOR
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
|
27159400 |
2016 |
Entrez Id: |
57459 |
Gene Symbol: |
GATAD2B |
GATAD2B
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
8942 |
Gene Symbol: |
KYNU |
KYNU
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
Entrez Id: |
5373 |
Gene Symbol: |
PMM2 |
PMM2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
4882 |
Gene Symbol: |
NPR2 |
NPR2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2706 |
Gene Symbol: |
GJB2 |
GJB2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
Entrez Id: |
100151683 |
Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
55252 |
Gene Symbol: |
ASXL2 |
ASXL2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genotype differences in cognitive functioning in Noonan syndrome.
|
19077116 |
2009 |
Entrez Id: |
93210 |
Gene Symbol: |
PGAP3 |
PGAP3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
171023 |
Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
1400 |
Gene Symbol: |
CRMP1 |
CRMP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6909 |
Gene Symbol: |
TBX2 |
TBX2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6872 |
Gene Symbol: |
TAF1 |
TAF1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
27086 |
Gene Symbol: |
FOXP1 |
FOXP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
9343 |
Gene Symbol: |
EFTUD2 |
EFTUD2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
Entrez Id: |
79644 |
Gene Symbol: |
SRD5A3 |
SRD5A3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
55023 |
Gene Symbol: |
PHIP |
PHIP
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|