GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
591	Spinocerebellar ataxia type 35 Autosomal dominant	Neurodegenerative disorders	TGM6 transglutaminase 6	Reports Updated as of Apr 17, 2024	PubMed
592	Spinocerebellar ataxia type 40 Autosomal dominant	Neurodegenerative disorders	CCDC88C coiled-coil domain containing 88C	Reports Updated as of Apr 17, 2024	PubMed
593	Spinocerebellar ataxia type 42 Autosomal dominant	Neurodegenerative disorders	CACNA1G calcium voltage-gated channel subunit alpha1 G	Reports Updated as of Apr 17, 2024	PubMed
594	Spinocerebellar ataxia type 5 Autosomal dominant	Neurodegenerative disorders	SPTBN2 spectrin beta, non-erythrocytic 2	Reports Updated as of Apr 17, 2024	PubMed
595	Spinocerebellar ataxia type 6 Autosomal dominant	Neurodegenerative disorders	CACNA1A calcium voltage-gated channel subunit alpha1 A	Reports Updated as of Apr 17, 2024	PubMed
596	Spinocerebellar ataxia type 7 Autosomal dominant	Neurodegenerative disorders	ATXN7 ataxin 7	Reports Updated as of Apr 17, 2024	PubMed
597	Spinocerebellar ataxia type 8 Autosomal dominant	Neurodegenerative disorders	ATXN8OS ATXN8 opposite strand lncRNA	Reports Updated as of Apr 17, 2024	PubMed
598	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Autosomal recessive	Neurodegenerative disorders	SETX senataxin	Reports Updated as of Mar 30, 2026	PubMed
599	Split hand-foot malformation 4 Autosomal dominant	Bone disorders	TP63 tumor protein p63	Reports Updated as of Mar 30, 2026	PubMed
600	Split hand-foot malformation 6 Autosomal recessive	Bone disorders	WNT10B Wnt family member 10B	Reports Updated as of Mar 30, 2026	PubMed

First «58 59 60 61 62 »Last 67 pages