GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by Inheritance Mode


S.No.  Genetic Disorders (Gentigs update)
Modes of inheritance
Category Gene symbol  Links Indian
context
361 Wilson disease  (Sep 05, 2023)
Autosomal recessive
Metabolic disorders ATP7B ATPase copper transporting beta
PubMed Reports
362 Winchester syndrome  (Sep 05, 2023)
Autosomal recessive
Bone disorders MMP14 matrix metallopeptidase 14
PubMed Reports
363 Wolman disease  (Nov 02, 2023)
Autosomal recessive
Metabolic disorders LIPA lipase A, lysosomal acid type
PubMed Reports
364 X-linked agammaglobulinemia  (Jul 20, 2024)
X-linked dominant
Immune disorders BTK Bruton tyrosine kinase
PubMed Reports