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
41	Alveolar soft part sarcoma	Cancer disorders	ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing	Reports Updated as of Nov 30, 2023	PubMed
42	Amelocerebrohypohidrotic syndrome Autosomal recessive	Neurodegenerative disorders	ROGDI rogdi atypical leucine zipper	Reports Updated as of Feb 01, 2024	PubMed
43	Amelogenesis imperfecta hypomaturation type 2A3 Autosomal recessive	Oral disorders	WDR72 WD repeat domain 72	Reports Updated as of Feb 10, 2026	PubMed
44	Amelogenesis imperfecta type 1G Autosomal recessive	Oral disorders	FAM20A FAM20A golgi associated secretory pathway pseudokinase	Reports Updated as of Dec 29, 2023	PubMed
45	Amyotrophic neuralgia Autosomal dominant	Neuromuscular disorders	SEPTIN9 septin 9	Reports Updated as of Feb 01, 2025	PubMed
46	Andersen Tawil syndrome Autosomal dominant	Cardiovascular disorders	KCNJ2 potassium inwardly rectifying channel subfamily J member 2	Reports Updated as of Jun 12, 2025	PubMed
47	Ankylosing spondylitis	Immune disorders	PTGER4 prostaglandin E receptor 4	Reports Updated as of Sep 15, 2022	PubMed
48	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Autosomal recessive	Bone disorders	POR cytochrome p450 oxidoreductase	Reports Updated as of Jan 05, 2026	PubMed
49	Aplasia cutis congenita Autosomal dominant	Skin disorders	BMS1 BMS1 ribosome biogenesis factor	Reports Updated as of Feb 01, 2024	PubMed
50	Apparent mineralocorticoid excess Autosomal recessive	Endocrine disorders	HSD11B2 hydroxysteroid 11-beta dehydrogenase 2	Reports Updated as of Feb 01, 2024	PubMed

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