Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11180
Gene Symbol: WDR6
WDR6 		0.100 GeneticVariation phenotype CLINVAR
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: 8632
Gene Symbol: DNAH17
DNAH17 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2312
Gene Symbol: FLG
FLG 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23428
Gene Symbol: SLC7A8
SLC7A8 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5834
Gene Symbol: PYGB
PYGB 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 22821
Gene Symbol: RASA3
RASA3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		0.100 GeneticVariation phenotype CLINVAR
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: 57215
Gene Symbol: THAP11
THAP11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.100 CausalMutation phenotype CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 51230
Gene Symbol: PHF20
PHF20 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3750
Gene Symbol: KCND1
KCND1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 28981
Gene Symbol: IFT81
IFT81 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5979
Gene Symbol: RET
RET 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 83452
Gene Symbol: RAB33B
RAB33B 		0.100 GeneticVariation phenotype CLINVAR