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
71	Ectodermal dysplasia Autosomal dominant, Autosomal recessive, X-linked dominant	Skin disorders	NECTIN4 nectin cell adhesion molecule 4 EDARADD EDAR associated via death domain EDAR ectodysplasin A receptor IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma NFKBIA NFKB inhibitor alpha HOXC13 homeobox C13 KRT85 keratin 85 KDF1 keratinocyte differentiation factor 1 KREMEN1 kringle containing transmembrane protein 1 TSPEAR thrombospondin type laminin G domain and EAR repeats CST6 cystatin E/M RHOA ras homolog family member A	Reports Updated as of Mar 09, 2023	PubMed
72	Ehlers-Danlos syndrome, musculocontractural type Autosomal recessive	Bone disorders	CHST14 carbohydrate sulfotransferase 14 DSE dermatan sulfate epimerase	Reports Updated as of Feb 01, 2024	PubMed
73	Ellis-van Creveld syndrome Autosomal recessive	Bone disorders	EVC2 EvC ciliary complex subunit 2 EVC EvC ciliary complex subunit 1	Reports Updated as of Dec 07, 2023	PubMed
74	Emery-Dreifuss muscular dystrophy X-linked dominant	Neuromuscular disorders	SYNE1 spectrin repeat containing nuclear envelope protein 1 FHL1 four and a half LIM domains 1 LMNA lamin A/C TMEM43 transmembrane protein 43 SYNE2 spectrin repeat containing nuclear envelope protein 2 SUN1 Sad1 and UNC84 domain containing 1 SUN2 Sad1 and UNC84 domain containing 2 EMD emerin	Reports Updated as of Nov 30, 2023	PubMed
75	Endometrial stromal sarcoma	Cancer disorders	NUTM2A NUT family member 2A NUTM2B NUT family member 2B JAZF1 JAZF zinc finger 1 SUZ12 SUZ12 polycomb repressive complex 2 subunit YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	Reports Updated as of Dec 07, 2023	PubMed
76	Enthesitis-Related Juvenile Idiopathic Arthritis	Bone disorders	IL36G interleukin 36 gamma MIF macrophage migration inhibitory factor	Reports Updated as of Mar 09, 2023	PubMed
77	Ependymoma	Cancer disorders	MEN1 menin 1 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Reports Updated as of Nov 30, 2023	PubMed
78	Epidermodysplasia verruciformis Autosomal recessive	Skin disorders	TMC8 transmembrane channel like 8 TMC6 transmembrane channel like 6 CIB1 calcium and integrin binding 1	Reports Updated as of Dec 07, 2023	PubMed
79	Epidermolysis bullosa simplex due to plakophilin deficiency Autosomal recessive	Skin disorders	PKP1 plakophilin 1 DSP desmoplakin	Reports Updated as of Jun 12, 2025	PubMed
80	Epidermolysis bullosa simplex, Koebner type Autosomal dominant	Skin disorders	KRT14 keratin 14 KLHL24 kelch like family member 24 KRT5 keratin 5	Reports Updated as of Jun 12, 2025	PubMed

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