Literature summary for 1.3.1.22 extracted from

Goodarzi, M.O.; Shah, N.A.; Antoine, H.J.; Pall, M.; Guo, X.; Azziz, R.
Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women (2006), J. Clin. Endocrinol. Metab., 91, 4085-4091.

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Application

Application	Comment	Organism
medicine	analysis of single-type nucleotide polymorphisms in isoforms SRD5A1 and SRD5A2. Haplotypes within both genes are associated with homocystic ovary syndrome risk. V89L variant of isoform SRD5A2 is associated with protection against homocystic ovary syndrome. Haplotypes in SRD5A1 are also associated with the degree of hirsutism in affected women	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with homocystic ovary syndrome, isoforms SRD5A1 and SRD5A2	-

Synonyms

Synonyms	Comment	Organism
SRD5A1	-	Homo sapiens
SRD5A2	-	Homo sapiens

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Release 2023.1 (January 2023)