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
381	Spinocerebellar ataxia 46 Autosomal dominant	Neurodegenerative disorders	PLD3 phospholipase D family member 3	Reports Updated as of Apr 17, 2024	PubMed
382	Spinocerebellar ataxia type 1 Autosomal dominant	Neurodegenerative disorders	ATXN1 ataxin 1	Reports Updated as of Apr 17, 2024	PubMed
383	Spinocerebellar ataxia type 10 Autosomal dominant	Neurodegenerative disorders	ATXN10 ataxin 10	Reports Updated as of Apr 17, 2024	PubMed
384	Spinocerebellar ataxia type 14 Autosomal dominant	Neurodegenerative disorders	PRKCG protein kinase C gamma	Reports Updated as of Apr 17, 2024	PubMed
385	Spinocerebellar ataxia type 16 Autosomal recessive	Neurodegenerative disorders	ITPR1 inositol 1,4,5-trisphosphate receptor type 1	Reports Updated as of Apr 17, 2024	PubMed
386	Spinocerebellar ataxia type 17 Autosomal dominant	Neurodegenerative disorders	TBP TATA-box binding protein	Reports Updated as of Apr 17, 2024	PubMed
387	Spinocerebellar ataxia type 18 Autosomal dominant	Neurodegenerative disorders	IFRD1 interferon related developmental regulator 1	Reports Updated as of Apr 17, 2024	PubMed
388	Spinocerebellar ataxia type 2 Autosomal dominant	Neurodegenerative disorders	ATXN2 ataxin 2	Reports Updated as of Apr 17, 2024	PubMed
389	Spinocerebellar ataxia type 20 Autosomal dominant	Neurodegenerative disorders	SNX14 sorting nexin 14	Reports Updated as of Apr 17, 2024	PubMed
390	Spinocerebellar ataxia type 21 Autosomal dominant	Neurodegenerative disorders	TMEM240 transmembrane protein 240	Reports Updated as of Apr 17, 2024	PubMed

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