Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2972
Gene Symbol: BRF1
BRF1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23358
Gene Symbol: USP24
USP24 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 23499
Gene Symbol: MACF1
MACF1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 CausalMutation phenotype CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405 2006
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation phenotype CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
Entrez Id: 361
Gene Symbol: AQP4
AQP4 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 473
Gene Symbol: RERE
RERE 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945 2004
Entrez Id: 55558
Gene Symbol: PLXNA3
PLXNA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN 		0.100 GeneticVariation phenotype CLINVAR
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: 1161
Gene Symbol: ERCC8
ERCC8 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9557
Gene Symbol: CHD1L
CHD1L 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.100 CausalMutation phenotype CLINVAR