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 (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
331	Spinocerebellar ataxia type 6 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	CACNA1A calcium voltage-gated channel subunit alpha1 A	PubMed	Reports
332	Spinocerebellar ataxia type 7 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	ATXN7 ataxin 7	PubMed	Reports
333	Spondyloepiphyseal dysplasia with congenital joint dislocations (Mar 09, 2023) Autosomal recessive	Bone disorders	CHST3 carbohydrate sulfotransferase 3	PubMed	Reports
334	Steatocystoma multiplex (Dec 29, 2023) Autosomal dominant	Skin disorders	KRT17 keratin 17	PubMed	Reports
335	Steinert myotonic dystrophy syndrome (Nov 30, 2023) Autosomal dominant	Neuromuscular disorders	DMPK DM1 protein kinase	PubMed	Reports
336	STING-associated vasculopathy with onset in infancy (Dec 29, 2023) Autosomal dominant	Immune disorders	STING1 stimulator of interferon response cGAMP interactor 1	PubMed	Reports
337	Sturge-Weber syndrome (Sep 05, 2023) Somatic mosaicism	Neuronal disorders	GNAQ G protein subunit alpha q	PubMed	Reports
338	Succinate-semialdehyde dehydrogenase deficiency (Dec 29, 2023) Autosomal recessive	Metabolic disorders	ALDH5A1 aldehyde dehydrogenase 5 family member A1	PubMed	Reports
339	Succinyl-CoA acetoacetate transferase deficiency (Dec 29, 2023) Autosomal recessive	Metabolic disorders	OXCT1 3-oxoacid CoA-transferase 1	PubMed	Reports
340	Supravalvar aortic stenosis (Dec 29, 2023) Autosomal dominant	Cardiovascular disorders	ELN elastin	PubMed	Reports

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