GenTIGS

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
161	Glucocorticoid deficiency with achalasia Autosomal recessive	Endocrine disorders	AAAS aladin WD repeat nucleoporin	Reports Updated as of Dec 29, 2023	PubMed
162	Glutaric aciduria, type 1 Autosomal recessive	Metabolic disorders	GCDH glutaryl-CoA dehydrogenase	Reports Updated as of Jul 20, 2024	PubMed
163	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
164	Glycogen storage disease, type VII Autosomal recessive	Metabolic disorders	PFKM phosphofructokinase, muscle	Reports Updated as of Feb 26, 2025	PubMed
165	GM1 gangliosidosis type 2 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
166	Gnathodiaphyseal dysplasia Autosomal dominant	Bone disorders	ANO5 anoctamin 5	Reports Updated as of Mar 09, 2023	PubMed
167	GNE myopathy Autosomal dominant, Autosomal recessive	Neuromuscular disorders	GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Reports Updated as of Mar 09, 2023	PubMed
168	Gollop-Wolfgang complex Autosomal dominant, Autosomal recessive	Bone disorders	BHLHA9 basic helix-loop-helix family member a9	Reports Updated as of Dec 29, 2023	PubMed
169	Goodpasture syndrome	Immune disorders	COL4A3 collagen type IV alpha 3 chain	Reports Updated as of Mar 09, 2023	PubMed
170	Gray platelet syndrome Autosomal recessive	Blood disorders	NBEAL2 neurobeachin like 2	Reports Updated as of Dec 07, 2023	PubMed

First «15 16 17 18 19 »Last 44 pages