GenTIGSA Gene Database on Rare Genetic Disorders
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Explore information by Inheritance Mode 

Autosomal dominant, Autosomal recessive, X-linked dominant, Y-linked

Monogenic disorders list based on single and multiple genes


Disorder Name (Total=1) Aliases Category Gene Indian Reports Link
46,XY sex reversal 1 • Swyer syndrome
• 46,XY complete gonadal dysgenesis
• Pure gonadal dysgenesis 46,XY
• 46, XY CGD
• 46, XY pure gonadal dysgenesis
• 46,XY sex reversal
• Gonadal dysgenesis, XY female type
Reproductive disorders SRY sex determining region Y
SOX9 SRY-box transcription factor 9
DHX37 DEAH-box helicase 37
Reports
Updated as of Jul 20, 2024
PubMed