Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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