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
471	Ramon syndrome Autosomal recessive	Oral disorders	ELMO2 engulfment and cell motility 2	Reports Updated as of Jan 04, 2024	PubMed
472	Reactive arthritis	Bone disorders	HLA-B major histocompatibility complex, class I, B	Reports Updated as of Jan 04, 2024	PubMed
473	Recessive dystrophic epidermolysis bullosa Autosomal recessive	Skin disorders	COL7A1 collagen type VII alpha 1 chain	Reports Updated as of Jun 12, 2025	PubMed
474	Renal carnitine transport defect Autosomal recessive	Metabolic disorders	SLC22A5 solute carrier family 22 member 5	Reports Updated as of Feb 01, 2025	PubMed
475	Renal coloboma syndrome Autosomal dominant	Eye disorders	PAX2 paired box 2	Reports Updated as of Jan 04, 2024	PubMed
476	Renal tubular acidosis with progressive nerve deafness Autosomal recessive	Multisystemic disorders	ATP6V1B1 ATPase H+ transporting V1 subunit B1	Reports Updated as of Mar 30, 2026	PubMed
477	Renpenning syndrome X-linked recessive	Neurodevelopmental disorders	PQBP1 polyglutamine binding protein 1	Reports Updated as of Nov 12, 2025	PubMed
478	Reticular dysgenesis Autosomal recessive	Immune disorders	AK2 adenylate kinase 2	Reports Updated as of Sep 08, 2025	PubMed
479	Roberts-SC phocomelia syndrome Autosomal recessive	Bone disorders	ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2	Reports Updated as of Jan 05, 2026	PubMed
480	Salla disease Autosomal recessive	Metabolic disorders	SLC17A5 solute carrier family 17 member 5	Reports Updated as of Dec 29, 2023	PubMed

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