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
101	Glioblastoma	Cancer disorders	IDH1 isocitrate dehydrogenase (NADP(+)) 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EGFR epidermal growth factor receptor BRAF B-Raf proto-oncogene, serine/threonine kinase CREBBP CREB binding protein TP53 tumor protein p53 ATM ATM serine/threonine kinase MSH2 mutS homolog 2 SLX4 SLX4 structure-specific endonuclease subunit DNMT3A DNA methyltransferase 3 alpha	Reports Updated as of Dec 29, 2023	PubMed
102	Glycogen storage disease type III Autosomal recessive	Metabolic disorders	AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase AFG3L2 AFG3 like matrix AAA peptidase subunit 2	Reports Updated as of Jul 20, 2024	PubMed
103	Glycogen storage disease, type II Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	GAA alpha glucosidase PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Reports Updated as of Sep 15, 2022	PubMed
104	Glycogen storage disease, type IV Autosomal recessive	Metabolic disorders	GBE1 1,4-alpha-glucan branching enzyme 1 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1	Reports Updated as of Jul 20, 2024	PubMed
105	Glycogen storage disease, type V Autosomal recessive	Metabolic disorders	PFKM phosphofructokinase, muscle PYGM glycogen phosphorylase, muscle associated PYGL glycogen phosphorylase L	Reports Updated as of Feb 01, 2025	PubMed
106	Goldenhar syndrome Autosomal recessive	Bone disorders	SF3B2 splicing factor 3b subunit 2 ZYG11B zyg-11 family member B, cell cycle regulator FOXI3 forkhead box I3	Reports Updated as of Mar 09, 2023	PubMed
107	Gorlin syndrome Autosomal dominant	Multisystemic disorders	PTCH1 patched 1 PTCH2 patched 2 SUFU SUFU negative regulator of hedgehog signaling	Reports Updated as of Jun 12, 2025	PubMed
108	Granulomatosis with polyangiitis	Immune disorders	CTLA4 cytotoxic T-lymphocyte associated protein 4 PRTN3 proteinase 3	Reports Updated as of May 24, 2023	PubMed
109	Hemimegalencephaly	Neurodevelopmental disorders	PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding PTEN phosphatase and tensin homolog	Reports Updated as of Dec 07, 2023	PubMed
110	Hemolytic uremic syndrome, atypical Autosomal dominant, Autosomal recessive	Blood disorders	CFH complement factor H DGKE diacylglycerol kinase epsilon C3AR1 complement C3a receptor 1	Reports Updated as of Nov 30, 2023	PubMed

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