List of monogenic disorders and their associated genes(Heterogeneity and
Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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 |
| 261 | Gaze palsy, familial horizontal, with progressive scoliosis 1 Autosomal recessive |
Neuronal disorders |
ROBO3 roundabout guidance receptor 3 |
Reports Updated as of Jan 05, 2026 |
PubMed |
| 262 | Generalized epilepsy with febrile seizures plus, type 2 Autosomal dominant |
Neuronal disorders |
SCN1A sodium voltage-gated channel alpha subunit 1 |
Reports Updated as of Aug 17, 2026 |
PubMed |
| 263 | Ghosal hematodiaphyseal dysplasia Autosomal recessive |
Bone disorders |
TBXAS1 thromboxane A synthase 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| 264 | Giant axonal neuropathy 1 Autosomal recessive |
Neurodegenerative disorders |
GAN gigaxonin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| 265 | Glucocorticoid deficiency with achalasia Autosomal recessive |
Endocrine disorders |
AAAS aladin WD repeat nucleoporin |
Reports Updated as of Dec 29, 2023 |
PubMed |
| 266 | Glucose-6-phosphate transport defect Autosomal recessive |
Metabolic disorders |
SLC37A4 solute carrier family 37 member 4 |
Reports Updated as of Jun 12, 2025 |
PubMed |
| 267 | Glutaric aciduria, type 1 Autosomal recessive |
Metabolic disorders |
GCDH glutaryl-CoA dehydrogenase |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 268 | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Autosomal recessive |
Metabolic disorders |
G6PC1 glucose-6-phosphatase catalytic subunit 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 269 | Glycogen storage disease IXb Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
PHKB phosphorylase kinase regulatory subunit beta |
Reports Updated as of Feb 10, 2026 |
PubMed |
| 270 | Glycogen storage disease, type VII Autosomal recessive |
Metabolic disorders |
PFKM phosphofructokinase, muscle |
Reports Updated as of Feb 26, 2025 |
PubMed |