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
361	Schimke immuno-osseous dysplasia Autosomal recessive	Bone disorders	SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	Reports Updated as of Jan 04, 2024	PubMed
362	Schnyder crystalline corneal dystrophy Autosomal dominant	Eye disorders	UBIAD1 UbiA prenyltransferase domain containing 1	Reports Updated as of Jan 04, 2024	PubMed
363	Schuurs-Hoeijmakers syndrome Autosomal dominant	Neurodevelopmental disorders	PACS1 phosphofurin acidic cluster sorting protein 1	Reports Updated as of Jul 20, 2024	PubMed
364	Schwartz-Jampel syndrome Autosomal recessive	Bone disorders	HSPG2 heparan sulfate proteoglycan 2	Reports Updated as of Feb 20, 2024	PubMed
365	Scleroderma	Immune disorders	EXOSC10 exosome component 10	Reports Updated as of Sep 05, 2023	PubMed
366	Sea-blue histiocyte syndrome Autosomal dominant	Metabolic disorders/Lysosomal storage disorders	APOE apolipoprotein E	Reports Updated as of Jan 04, 2024	PubMed
367	Severe congenital nemaline myopathy Autosomal recessive	Neuromuscular disorders	KLHL40 kelch like family member 40	Reports Updated as of Dec 29, 2023	PubMed
368	Sezary syndrome	Cancer disorders	BCL10 BCL10 immune signaling adaptor	Reports Updated as of Dec 29, 2023	PubMed
369	SHORT syndrome Autosomal dominant	Endocrine disorders	PIK3R1 phosphoinositide-3-kinase regulatory subunit 1	Reports Updated as of Dec 29, 2023	PubMed
370	Shprintzen-Goldberg syndrome Autosomal dominant	Bone disorders	SKI SKI proto-oncogene	Reports Updated as of Sep 05, 2023	PubMed

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