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
151	Galactose epimerase deficiency Autosomal recessive	Metabolic disorders	GALE UDP-galactose-4-epimerase	Reports Updated as of Sep 05, 2023	PubMed
152	GAPO syndrome Autosomal recessive	Developmental / Multisystemic disorders	ANTXR1 ANTXR cell adhesion molecule 1	Reports Updated as of Dec 07, 2023	PubMed
153	Ghosal hematodiaphyseal dysplasia Autosomal recessive	Bone disorders	TBXAS1 thromboxane A synthase 1	Reports Updated as of Dec 07, 2023	PubMed
154	Giant axonal neuropathy 1 Autosomal recessive	Neurodegenerative disorders	GAN gigaxonin	Reports Updated as of Feb 01, 2025	PubMed
155	Glucocorticoid deficiency with achalasia Autosomal recessive	Endocrine disorders	AAAS aladin WD repeat nucleoporin	Reports Updated as of Dec 29, 2023	PubMed
156	Glutaric aciduria, type 1 Autosomal recessive	Metabolic disorders	GCDH glutaryl-CoA dehydrogenase	Reports Updated as of Jul 20, 2024	PubMed
157	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
158	Glycogen storage disease, type VII Autosomal recessive	Metabolic disorders	PFKM phosphofructokinase, muscle	Reports Updated as of Feb 26, 2025	PubMed
159	GM1 gangliosidosis type 2 Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GLB1 galactosidase beta 1	Reports Updated as of Mar 09, 2023	PubMed
160	Gnathodiaphyseal dysplasia Autosomal dominant	Bone disorders	ANO5 anoctamin 5	Reports Updated as of Mar 09, 2023	PubMed

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