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 |