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
181	Doyne honeycomb retinal dystrophy Autosomal dominant	Eye disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	Reports Updated as of Dec 07, 2023	PubMed
182	Dubin-Johnson syndrome Autosomal recessive	Metabolic disorders	ABCC2 ATP binding cassette subfamily C member 2	Reports Updated as of Mar 30, 2026	PubMed
183	Dubowitz syndrome Autosomal recessive	Skin disorders	NSUN2 NOP2/Sun RNA methyltransferase 2	Reports Updated as of Dec 29, 2023	PubMed
184	Duchenne muscular dystrophy X-linked dominant	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Sep 15, 2022	PubMed
185	Dyggve-Melchior-Clausen syndrome Autosomal recessive	Multisystemic disorders	DYM dymeclin	Reports Updated as of Nov 12, 2025	PubMed
186	Dystonia 12 Autosomal dominant	Neurodevelopmental disorders	ATP1A3 ATPase Na+/K+ transporting subunit alpha 3	Reports Updated as of Jan 04, 2024	PubMed
187	Dystonia 28 Autosomal dominant	Neurodevelopmental disorders	KMT2B lysine methyltransferase 2B	Reports Updated as of Mar 09, 2023	PubMed
188	Early-onset generalized limb-onset dystonia Autosomal dominant	Neuromuscular disorders	TOR1A torsin family 1 member A	Reports Updated as of Mar 09, 2023	PubMed
189	EAST syndrome Autosomal recessive	Neurodevelopmental disorders	KCNJ10 potassium inwardly rectifying channel subfamily J member 10	Reports Updated as of Dec 29, 2023	PubMed
190	Eichsfeld type congenital muscular dystrophy Autosomal recessive	Neuromuscular disorders	SELENON selenoprotein N	Reports Updated as of Feb 01, 2025	PubMed

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