Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3640
Gene Symbol: INSL3
INSL3 		0.900 CausalMutation disease CLINVAR
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.410 CausalMutation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.120 CausalMutation disease CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.120 CausalMutation disease CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.120 CausalMutation disease CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.120 CausalMutation disease CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.110 CausalMutation disease CLINVAR
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.100 GeneticVariation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 50846
Gene Symbol: DHH
DHH 		0.100 CausalMutation disease CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535 2018
Entrez Id: 50846
Gene Symbol: DHH
DHH 		0.100 GeneticVariation disease CLINVAR In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 30298535 2018
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.100 CausalMutation disease CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1 		0.100 CausalMutation disease CLINVAR SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.100 GeneticVariation disease CLINVAR The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. 24077912 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.100 GeneticVariation disease CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391 2011
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation disease CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation disease CLINVAR
Entrez Id: 745
Gene Symbol: MYRF
MYRF 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation disease CLINVAR