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
321	Spinocerebellar ataxia type 20 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	SNX14 sorting nexin 14	PubMed	Reports
322	Spinocerebellar ataxia type 21 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	TMEM240 transmembrane protein 240	PubMed	Reports
323	Spinocerebellar ataxia type 27 (Jul 20, 2024) Autosomal dominant	Neurodegenerative disorders	FGF14 fibroblast growth factor 14	PubMed	Reports
324	Spinocerebellar ataxia type 28 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	AFG3L2 AFG3 like matrix AAA peptidase subunit 2	PubMed	Reports
325	Spinocerebellar ataxia type 3 (Apr 17, 2024) Autosomal recessive	Neurodegenerative disorders	ATXN3 ataxin 3	PubMed	Reports
326	Spinocerebellar ataxia type 34 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	ELOVL4 ELOVL fatty acid elongase 4	PubMed	Reports
327	Spinocerebellar ataxia type 35 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	TGM6 transglutaminase 6	PubMed	Reports
328	Spinocerebellar ataxia type 40 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	CCDC88C coiled-coil domain containing 88C	PubMed	Reports
329	Spinocerebellar ataxia type 42 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	CACNA1G calcium voltage-gated channel subunit alpha1 G	PubMed	Reports
330	Spinocerebellar ataxia type 5 (Apr 17, 2024) Autosomal dominant	Neurodegenerative disorders	SPTBN2 spectrin beta, non-erythrocytic 2	PubMed	Reports

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