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
241	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
242	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
243	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
244	Goodpasture syndrome	Immune disorders	COL4A3 collagen type IV alpha 3 chain	Reports Updated as of Mar 09, 2023	PubMed
245	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 Autosomal recessive	Immune disorders	NCF4 neutrophil cytosolic factor 4	Reports Updated as of Jan 05, 2026	PubMed
246	Gray platelet syndrome Autosomal recessive	Blood disorders	NBEAL2 neurobeachin like 2	Reports Updated as of Dec 07, 2023	PubMed
247	Grebe syndrome Autosomal recessive	Bone disorders	GDF5 growth differentiation factor 5	Reports Updated as of Feb 01, 2025	PubMed
248	Greig cephalopolysyndactyly syndrome Autosomal dominant	Bone disorders	GLI3 GLI family zinc finger 3	Reports Updated as of Dec 07, 2023	PubMed
249	Griscelli syndrome type 1 Autosomal recessive	Skin disorders	MYO5A myosin VA	Reports Updated as of Jan 05, 2026	PubMed
250	Guillain-Barre syndrome	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Nov 30, 2023	PubMed

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