Human | FREM2 | 341640 | FRAS1 related extracellular matrix protein 2 | |
Human | H19 | 283120 | H19, imprinted maternally expressed transcript (non-protein coding) | |
Human | HYLS1 | 219844 | hydrolethalus syndrome 1 | |
Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 | |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
Human | EVC2 | 132884 | Ellis van Creveld syndrome 2 | |
Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 | |
Human | FRAS1 | 80144 | Fraser syndrome 1 | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | ZMPSTE24 | 10269 | zinc metallopeptidase STE24 | |
Human | PQBP1 | 10084 | polyglutamine binding protein 1 | |
Human | MAMLD1 | 10046 | mastermind-like domain containing 1 | CXorf6 mutations are associated with isolated hypospadias of varying severity identified three different nonsense mutations of CXorf6 in individuals with hypospadias |
Human | ZEB2 | 9839 | zinc finger E-box binding homeobox 2 | |
Human | CUL7 | 9820 | cullin 7 | |
Human | WTAP | 9589 | Wilms tumor 1 associated protein | WTAP protein involved in the morphogenesis of the genitourinaty tract and in the etiology of isolated hypospadias |
Human | TP63 | 8626 | tumor protein p63 | |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | |
Human | CUL4B | 8450 | cullin 4B | |
Human | WT1 | 7490 | Wilms tumor 1 | Title:Mutation analysis of five candidate genes in Chinese patients with hypospadias.|Association:Y|Conclusion:In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis. |
Human | WNT7A | 7476 | wingless-type MMTV integration site family, member 7A | |
Human | WHSC1 | 7468 | Wolf-Hirschhorn syndrome candidate 1 | |
Human | HNF1B | 6928 | HNF1 homeobox B | |
Human | STAR | 6770 | steroidogenic acute regulatory protein | |
Human | SRD5A2 | 6716 | steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) | In 37 cases of more severe hypospadias we have found only two previously described mutations, one in the androgen receptor and one in the SRD5A2 gene Title:The Valine allele of the V89L polymorphism in the five-alpha reductase gene confers a reduced risk for hypospadias.|Association:Not Found|Conclusion:This finding is in accordance with the assumption that functional polymorphisms may play an important role in complex disorders such as hypospadias when several genes as well as environmental factors contribute to the etiology. Title:Mutation analysis of five candidate genes in Chinese patients with hypospadias.|Association:Y|Conclusion:In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis. |
Human | SRD5A1 | 6715 | steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) | Mutant SRD5A1 isoenzyme does not seem to play a crucial role in the development of hypospadias |