Condition: Cryptorchidism


rs1060499548 in ABL1 gene and Cryptorchidism PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1554904772 in BRSK2 gene and Cryptorchidism PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs104894697 in INSL3 gene and Cryptorchidism PMID 12601553 2003 A novel mutation of the insulin-like 3 gene in patients with cryptorchidism.

PMID 11095425 2000 Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism.

PMID 11746019 2001 Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism.

rs1057516033 in KAT6B gene and Cryptorchidism PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1480612338 in LOC105369759;DHH gene and Cryptorchidism PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

rs121918459 in PTPN11 gene and Cryptorchidism PMID 22711529 2012 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.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

rs121918303 in RXFP2 gene and Cryptorchidism PMID 12217959 2002 Mutations of the GREAT gene cause cryptorchidism.

rs1135402740 in SMCHD1 gene and Cryptorchidism PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

rs1568303086 in TCF4 gene and Cryptorchidism PMID 21671391 2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

PMID 24077912 2014 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.