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 |
| 131 | Glutaric aciduria, type 1 (Jul 20, 2024) Autosomal recessive |
Metabolic disorders |
GCDH glutaryl-CoA dehydrogenase |
PubMed | Reports |
| 132 | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (Jul 20, 2024) Autosomal recessive |
Metabolic disorders |
G6PC1 glucose-6-phosphatase catalytic subunit 1 |
PubMed | Reports |
| 133 | GM1 gangliosidosis type 2 (Mar 09, 2023) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
GLB1 galactosidase beta 1 |
PubMed | Reports |
| 134 | Gnathodiaphyseal dysplasia (Mar 09, 2023) Autosomal dominant |
Bone disorders |
ANO5 anoctamin 5 |
PubMed | Reports |
| 135 | GNE myopathy (Mar 09, 2023) Autosomal dominant, Autosomal recessive |
Neuromuscular disorders |
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
PubMed | Reports |
| 136 | Gollop-Wolfgang complex (Dec 29, 2023) Autosomal dominant, Autosomal recessive |
Bone disorders |
BHLHA9 basic helix-loop-helix family member a9 |
PubMed | Reports |
| 137 | Goodpasture syndrome (Mar 09, 2023) |
Immune disorders |
COL4A3 collagen type IV alpha 3 chain |
PubMed | Reports |
| 138 | Gray platelet syndrome (Dec 07, 2023) Autosomal recessive |
Blood disorders |
NBEAL2 neurobeachin like 2 |
PubMed | Reports |
| 139 | Greig cephalopolysyndactyly syndrome (Dec 07, 2023) Autosomal dominant |
Bone disorders |
GLI3 GLI family zinc finger 3 |
PubMed | Reports |
| 140 | Guillain-Barre syndrome (Nov 30, 2023) |
Neuromuscular disorders |
PMP22 peripheral myelin protein 22 |
PubMed | Reports |