Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation 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
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001

Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR

Entrez Id: 91949
Gene Symbol: COG7
COG7
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 57479
Gene Symbol: PRR12
PRR12
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR

Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR

Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR

Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR