Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype CLINVAR Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285 2007
Entrez Id: 2733
Gene Symbol: GLE1
GLE1 		0.100 Biomarker phenotype HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.100 Biomarker phenotype HPO
Entrez Id: 60386
Gene Symbol: SLC25A19
SLC25A19 		0.100 Biomarker phenotype HPO
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		0.100 Biomarker phenotype HPO
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.100 Biomarker phenotype HPO
Entrez Id: 2530
Gene Symbol: FUT8
FUT8 		0.100 Biomarker phenotype HPO
Entrez Id: 5813
Gene Symbol: PURA
PURA 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.100 Biomarker phenotype HPO
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		0.100 Biomarker phenotype HPO
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 Biomarker phenotype HPO
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		0.100 Biomarker phenotype HPO
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 Biomarker phenotype HPO
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		0.100 Biomarker phenotype HPO
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		0.100 Biomarker phenotype HPO
Entrez Id: 284119
Gene Symbol: CAVIN1
CAVIN1 		0.100 Biomarker phenotype HPO
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.100 Biomarker phenotype HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.100 Biomarker phenotype HPO
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837 2007
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		0.100 Biomarker phenotype HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 Biomarker phenotype HPO
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		0.100 Biomarker phenotype HPO