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
321	Neurofibromatosis type 2 Autosomal dominant	Tumor/Cancer	NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Reports Updated as of Sep 05, 2023	PubMed
322	Neuromyelitis optica spectrum disorder	Eye disorders	AQP4 aquaporin 4	Reports Updated as of Sep 05, 2023	PubMed
323	Neutral lipid storage myopathy Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	PNPLA2 patatin like phospholipase domain containing 2	Reports Updated as of Jan 04, 2024	PubMed
324	Niemann-Pick disease, type B Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SMPD1 sphingomyelin phosphodiesterase 1	Reports Updated as of Sep 15, 2022	PubMed
325	Obesity due to congenital leptin deficiency Autosomal recessive	Endocrine disorders	LEP leptin	Reports Updated as of Jan 04, 2024	PubMed
326	Ocular cystinosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	CTNS cystinosin, lysosomal cystine transporter	Reports Updated as of Jul 20, 2024	PubMed
327	Oculodentodigital dysplasia Autosomal dominant	Bone disorders	GJA1 gap junction protein alpha 1	Reports Updated as of Sep 05, 2023	PubMed
328	Oligodendroglioma	Cancer disorders	CIC capicua transcriptional repressor	Reports Updated as of Jan 04, 2024	PubMed
329	Opsismodysplasia Autosomal recessive	Bone disorders	INPPL1 inositol polyphosphate phosphatase like 1	Reports Updated as of Jan 04, 2024	PubMed
330	Ornithine aminotransferase deficiency Autosomal recessive	Metabolic disorders	OAT ornithine aminotransferase	Reports Updated as of Dec 07, 2023	PubMed

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