Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 | |
Human | HPE6 | 117190 | holoprosencephaly 6 | |
Human | AHRR | 57491 | aryl-hydrocarbon receptor repressor | Pro185Ala polymorphism is weakly associated with micropenis AHRR Pro185Ala polymorphism may constitute a susceptibility locus for the development of micropenis in response to dioxins Title:Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.|Association:Y|Conclusion:Homozygosity for the 185Pro allele of AHRR may increase the susceptibility of a fetus to the undermasculinizing effects of dioxin exposure in utero, presumably through the diminished inhibition of AHR-mediated signaling. |
Human | CHD7 | 55636 | chromodomain helicase DNA binding protein 7 | |
Human | SEMA3E | 9723 | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E | |
Human | TP63 | 8626 | tumor protein p63 | |
Human | TBCE | 6905 | tubulin folding cofactor E | |
Human | SRD5A2 | 6716 | steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) | in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations Title:Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81Japanese patients.|Association:Y|Conclusion:The results suggest that, in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis. Title:Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis|Association:Not Found|Conclusion:Our results suggest that administration of 25 mg TE is effective for micropenis in prepubertal boys with no SRD5A2 or AR mutation, with variable but significant PL increments, and that the penile responsiveness to TE therapy is independent of the V89L and the CAG repeat length polymorphisms. |
Human | SOX2 | 6657 | SRY (sex determining region Y)-box 2 | |
Human | POR | 5447 | P450 (cytochrome) oxidoreductase | |
Human | INSL3 | 3640 | insulin-like 3 (Leydig cell) | Mutations involving the insulin-like factor 3 gene may contribute to other anomalies of male genital development, such as micropenis |
Human | GLI3 | 2737 | GLI family zinc finger 3 | |
Human | NR5A1 | 2516 | nuclear receptor subfamily 5, group A, member 1 | the SF-1 Gly146Ala polymorphism may constitute a susceptibility factor for the development of severe micropenis, and that mild micropenis can be regarded as a normal variation in terms of the polymorphism effec heterozygous partial loss of function mutations in SF1 may be associated with bilateral anorchia ('vanishing testis syndrome') and micropenis in humans Title:|Association:Y|Conclusion:Not Found |
Human | ERCC6 | 2074 | excision repair cross-complementing rodent repair deficiency, complementation group 6 | |
Human | DHCR7 | 1717 | 7-dehydrocholesterol reductase | |
Human | ERCC8 | 1161 | excision repair cross-complementing rodent repair deficiency, complementation group 8 | |
Human | BUB1B | 701 | BUB1 mitotic checkpoint serine/threonine kinase B | |
Human | BMP4 | 652 | bone morphogenetic protein 4 | |
Human | ATRX | 546 | alpha thalassemia/mental retardation syndrome X-linked | |
Human | AR | 367 | androgen receptor | Title:Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis|Association:Not Found|Conclusion:Our results suggest that administration of 25 mg TE is effective for micropenis in prepubertal boys with no SRD5A2 or AR mutation, with variable but significant PL increments, and that the penile responsiveness to TE therapy is independent of the V89L and the CAG repeat length polymorphisms. |
Human | AHR | 196 | aryl hydrocarbon receptor | Arg554Lys was investigated and no association with micropenis was found Title:Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling.|Association:Y|Conclusion:The results suggest that the AHRR Pro185Ala polymorphism may constitute a susceptibility locus for the development of MP in response to dioxins. |