Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 CausalMutation disease CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 CausalMutation disease CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 CausalMutation disease CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 CausalMutation disease CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
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: 51091
Gene Symbol: SEPSECS
SEPSECS 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7 		0.100 CausalMutation disease CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 CausalMutation disease CLINVAR
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		0.100 CausalMutation disease CLINVAR
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 203068
Gene Symbol: TUBB
TUBB 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation disease CLINVAR