Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534 2010
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 GeneticVariation phenotype CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317 2008
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: 3845
Gene Symbol: KRAS
KRAS 		0.100 CausalMutation phenotype CLINVAR Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene. 17875939 2007
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: 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: 3845
Gene Symbol: KRAS
KRAS 		0.100 CausalMutation phenotype CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype 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 phenotype CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype 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 phenotype CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		0.100 CausalMutation phenotype CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		0.100 CausalMutation phenotype CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752 1996
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.100 Biomarker phenotype HPO
Entrez Id: 54476
Gene Symbol: RNF216
RNF216 		0.100 Biomarker phenotype HPO
Entrez Id: 79048
Gene Symbol: SECISBP2
SECISBP2 		0.100 Biomarker phenotype HPO
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.100 Biomarker phenotype HPO
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1 		0.100 Biomarker phenotype HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.100 Biomarker phenotype HPO
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		0.100 Biomarker phenotype HPO
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2 		0.100 Biomarker phenotype HPO
Entrez Id: 89884
Gene Symbol: LHX4
LHX4 		0.100 Biomarker phenotype HPO
Entrez Id: 9862
Gene Symbol: MED24
MED24 		0.100 GeneticVariation phenotype CLINVAR