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
361	Porokeratosis of Mibelli Autosomal dominant	Skin disorders	PMVK phosphomevalonate kinase	Reports Updated as of Jan 04, 2024	PubMed
362	Primary biliary cholangitis	Liver disorders	TJP2 tight junction protein 2	Reports Updated as of Jan 04, 2024	PubMed
363	Primary erythromelalgia Autosomal dominant	Neurodevelopmental disorders	SCN9A sodium voltage-gated channel alpha subunit 9	Reports Updated as of Jan 04, 2024	PubMed
364	Primary hyperoxaluria, type II Autosomal recessive	Metabolic disorders	GRHPR glyoxylate and hydroxypyruvate reductase	Reports Updated as of Feb 20, 2024	PubMed
365	Primary hypomagnesemia Autosomal recessive	Metabolic disorders	CLDN16 claudin 16	Reports Updated as of Jul 20, 2024	PubMed
366	Primary progressive non fluent aphasia	Neurodegenerative disorders	TBK1 TANK binding kinase 1	Reports Updated as of Jan 04, 2024	PubMed
367	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Autosomal dominant	Metabolic disorders	RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B	Reports Updated as of Jul 20, 2024	PubMed
368	Progressive myositis ossificans Autosomal dominant	Neuromuscular disorders	ACVR1 activin A receptor type 1	Reports Updated as of Feb 01, 2025	PubMed
369	Progressive osseous heteroplasia Autosomal dominant	Bone disorders	GNAS GNAS complex locus	Reports Updated as of Jan 04, 2024	PubMed
370	Progressive Pseudorheumatoid Dysplasia Autosomal recessive	Bone disorders	CCN6 cellular communication network factor 6	Reports Updated as of Sep 05, 2023	PubMed

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