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
231	Glucose-6-phosphate transport defect Autosomal recessive	Metabolic disorders	SLC37A4 solute carrier family 37 member 4	Reports Updated as of Jun 12, 2025	PubMed
232	Glutaric aciduria, type 1 Autosomal recessive	Metabolic disorders	GCDH glutaryl-CoA dehydrogenase	Reports Updated as of Jul 20, 2024	PubMed
233	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
234	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
235	Glycogen storage disease, type VII Autosomal recessive	Metabolic disorders	PFKM phosphofructokinase, muscle	Reports Updated as of Feb 26, 2025	PubMed
236	GM1 gangliosidosis type 2 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
237	Gnathodiaphyseal dysplasia Autosomal dominant	Bone disorders	ANO5 anoctamin 5	Reports Updated as of Mar 09, 2023	PubMed
238	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
239	GNPTG-mucolipidosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma	Reports Updated as of Jan 05, 2026	PubMed
240	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

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