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
521	Spinocerebellar ataxia type 2 Autosomal dominant	Neurodegenerative disorders	ATXN2 ataxin 2	Reports Updated as of Apr 17, 2024	PubMed
522	Spinocerebellar ataxia type 20 Autosomal dominant	Neurodegenerative disorders	SNX14 sorting nexin 14	Reports Updated as of Apr 17, 2024	PubMed
523	Spinocerebellar ataxia type 21 Autosomal dominant	Neurodegenerative disorders	TMEM240 transmembrane protein 240	Reports Updated as of Apr 17, 2024	PubMed
524	Spinocerebellar ataxia type 27 Autosomal dominant	Neurodegenerative disorders	FGF14 fibroblast growth factor 14	Reports Updated as of Jul 20, 2024	PubMed
525	Spinocerebellar ataxia type 28 Autosomal dominant	Neurodegenerative disorders	AFG3L2 AFG3 like matrix AAA peptidase subunit 2	Reports Updated as of Apr 17, 2024	PubMed
526	Spinocerebellar ataxia type 3 Autosomal recessive	Neurodegenerative disorders	ATXN3 ataxin 3	Reports Updated as of Apr 17, 2024	PubMed
527	Spinocerebellar ataxia type 34 Autosomal dominant	Neurodegenerative disorders	ELOVL4 ELOVL fatty acid elongase 4	Reports Updated as of Apr 17, 2024	PubMed
528	Spinocerebellar ataxia type 35 Autosomal dominant	Neurodegenerative disorders	TGM6 transglutaminase 6	Reports Updated as of Apr 17, 2024	PubMed
529	Spinocerebellar ataxia type 40 Autosomal dominant	Neurodegenerative disorders	CCDC88C coiled-coil domain containing 88C	Reports Updated as of Apr 17, 2024	PubMed
530	Spinocerebellar ataxia type 42 Autosomal dominant	Neurodegenerative disorders	CACNA1G calcium voltage-gated channel subunit alpha1 G	Reports Updated as of Apr 17, 2024	PubMed

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