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 Modes of inheritance |
Category | Gene symbol | Indian context |
Links |
| 181 | Fragile X syndrome X-linked recessive |
Neurodevelopmental disorders |
FMR1 fragile X messenger ribonucleoprotein 1 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 182 | Friedreich ataxia Autosomal recessive |
Neurodegenerative disorders |
FXN frataxin |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 183 | Fumarase deficiency Autosomal recessive |
Metabolic disorders |
FH fumarate hydratase |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 184 | Galactose epimerase deficiency Autosomal recessive |
Metabolic disorders |
GALE UDP-galactose-4-epimerase |
Reports Updated as of Sep 05, 2023 |
PubMed |
| 185 | GAPO syndrome Autosomal recessive |
Developmental / Multisystemic disorders |
ANTXR1 ANTXR cell adhesion molecule 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 186 | Ghosal hematodiaphyseal dysplasia Autosomal recessive |
Bone disorders |
TBXAS1 thromboxane A synthase 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 187 | Giant axonal neuropathy 1 Autosomal recessive |
Neurodegenerative disorders |
GAN gigaxonin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 188 | Glucocorticoid deficiency with achalasia Autosomal recessive |
Endocrine disorders |
AAAS aladin WD repeat nucleoporin |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 189 | Glucose-6-phosphate transport defect Autosomal recessive |
Metabolic disorders |
SLC37A4 solute carrier family 37 member 4 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| 190 | Glutaric aciduria, type 1 Autosomal recessive |
Metabolic disorders |
GCDH glutaryl-CoA dehydrogenase |
Reports Updated as of Jul 20, 2024 |
PubMed |