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	Dicarboxylic aminoaciduria Autosomal recessive	Metabolic disorders	SLC1A1 solute carrier family 1 member 1	Reports Updated as of Dec 29, 2023	PubMed
182	Distal arthrogryposis type 5D Autosomal recessive	Neuromuscular disorders	ECEL1 endothelin converting enzyme like 1	Reports Updated as of Feb 01, 2025	PubMed
183	DNA ligase IV deficiency Autosomal recessive	Immune disorders	LIG4 DNA ligase 4	Reports Updated as of Jun 12, 2025	PubMed
184	Doyne honeycomb retinal dystrophy Autosomal dominant	Eye disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	Reports Updated as of Dec 07, 2023	PubMed
185	Dubin-Johnson syndrome Autosomal recessive	Metabolic disorders	ABCC2 ATP binding cassette subfamily C member 2	Reports Updated as of Mar 30, 2026	PubMed
186	Dubowitz syndrome Autosomal recessive	Skin disorders	NSUN2 NOP2/Sun RNA methyltransferase 2	Reports Updated as of Dec 29, 2023	PubMed
187	Duchenne muscular dystrophy X-linked dominant	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Sep 15, 2022	PubMed
188	Dyggve-Melchior-Clausen syndrome Autosomal recessive	Multisystemic disorders	DYM dymeclin	Reports Updated as of Nov 12, 2025	PubMed
189	Dystonia 12 Autosomal dominant	Neurodevelopmental disorders	ATP1A3 ATPase Na+/K+ transporting subunit alpha 3	Reports Updated as of Jan 04, 2024	PubMed
190	Dystonia 28 Autosomal dominant	Neurodevelopmental disorders	KMT2B lysine methyltransferase 2B	Reports Updated as of Mar 09, 2023	PubMed

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