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	Goodpasture syndrome	Immune disorders	COL4A3 collagen type IV alpha 3 chain	Reports Updated as of Mar 09, 2023	PubMed
242	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
243	Gray platelet syndrome Autosomal recessive	Blood disorders	NBEAL2 neurobeachin like 2	Reports Updated as of Dec 07, 2023	PubMed
244	Grebe syndrome Autosomal recessive	Bone disorders	GDF5 growth differentiation factor 5	Reports Updated as of Feb 04, 2025	PubMed
245	Greig cephalopolysyndactyly syndrome Autosomal dominant	Bone disorders	GLI3 GLI family zinc finger 3	Reports Updated as of Dec 07, 2023	PubMed
246	Griscelli syndrome type 1 Autosomal recessive	Skin disorders	MYO5A myosin VA	Reports Updated as of Jan 05, 2026	PubMed
247	Guillain-Barre syndrome	Neuromuscular disorders	PMP22 peripheral myelin protein 22	Reports Updated as of Nov 30, 2023	PubMed
248	H syndrome Autosomal recessive	Skin disorders	SLC29A3 solute carrier family 29 member 3	Reports Updated as of Dec 07, 2023	PubMed
249	Haim-Munk syndrome Autosomal recessive	Skin disorders	CTSC cathepsin C	Reports Updated as of Dec 07, 2023	PubMed
250	Hajdu-Cheney syndrome Autosomal dominant	Bone disorders	NOTCH2 notch receptor 2	Reports Updated as of May 24, 2023	PubMed

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