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
121	Dicarboxylic aminoaciduria Autosomal recessive	Metabolic disorders	SLC1A1 solute carrier family 1 member 1	Reports Updated as of Dec 29, 2023	PubMed
122	Dihydropyrimidinase deficiency Autosomal recessive	Metabolic disorders	DPYS dihydropyrimidinase	Reports Updated as of Feb 20, 2024	PubMed
123	Distal arthrogryposis type 5D Autosomal recessive	Neuromuscular disorders	ECEL1 endothelin converting enzyme like 1	Reports Updated as of Feb 01, 2025	PubMed
124	Doyne honeycomb retinal dystrophy Autosomal dominant	Eye disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	Reports Updated as of Dec 07, 2023	PubMed
125	Dubowitz syndrome Autosomal recessive	Skin disorders	NSUN2 NOP2/Sun RNA methyltransferase 2	Reports Updated as of Dec 29, 2023	PubMed
126	Duchenne muscular dystrophy X-linked dominant	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Sep 15, 2022	PubMed
127	Dystonia 12 Autosomal dominant	Neurodevelopmental disorders	ATP1A3 ATPase Na+/K+ transporting subunit alpha 3	Reports Updated as of Jan 04, 2024	PubMed
128	Dystonia 28 Autosomal dominant	Neurodevelopmental disorders	KMT2B lysine methyltransferase 2B	Reports Updated as of Mar 09, 2023	PubMed
129	Early-onset generalized limb-onset dystonia Autosomal dominant	Neuromuscular disorders	TOR1A torsin family 1 member A	Reports Updated as of Mar 09, 2023	PubMed
130	EAST syndrome Autosomal recessive	Neurodevelopmental disorders	KCNJ10 potassium inwardly rectifying channel subfamily J member 10	Reports Updated as of Dec 29, 2023	PubMed

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