×
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
Cryptorchidism
0.900
CausalMutation
CLINVAR
×
Entrez Id: 546
Gene Symbol: ATRX
ATRX
Cryptorchidism
0.410
CausalMutation
CLINVAR
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Cryptorchidism
0.120
CausalMutation
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
Cryptorchidism
0.120
CausalMutation
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
Cryptorchidism
0.120
CausalMutation
CLINVAR
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261 2002
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Cryptorchidism
0.120
CausalMutation
CLINVAR
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759 2001
×
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
Cryptorchidism
0.110
CausalMutation
CLINVAR
×
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
Cryptorchidism
0.100
GeneticVariation
CLINVAR
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
30879638 2019
×
Entrez Id: 50846
Gene Symbol: DHH
DHH
Cryptorchidism
0.100
CausalMutation
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
Cryptorchidism
0.100
GeneticVariation
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
Cryptorchidism
0.100
CausalMutation
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
Cryptorchidism
0.100
CausalMutation
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
Cryptorchidism
0.100
CausalMutation
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
Cryptorchidism
0.100
GeneticVariation
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
Cryptorchidism
0.100
GeneticVariation
CLINVAR
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
21671391 2011
×
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
Cryptorchidism
0.100
CausalMutation
CLINVAR
×
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
Cryptorchidism
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Cryptorchidism
0.100
CausalMutation
CLINVAR
×
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Cryptorchidism
0.100
CausalMutation
CLINVAR
×
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
Cryptorchidism
0.100
CausalMutation
CLINVAR
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cryptorchidism
0.100
CausalMutation
CLINVAR
×
Entrez Id: 745
Gene Symbol: MYRF
MYRF
Cryptorchidism
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Cryptorchidism
0.100
CausalMutation
CLINVAR
×
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
Cryptorchidism
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
Cryptorchidism
0.100
CausalMutation
CLINVAR