GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Monogenic disorders list    

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 (Gentigs update)
Modes of inheritance
Category Gene symbol  Links Indian
context
291 Reactive arthritis  (Jan 04, 2024)
Bone disorders HLA-B major histocompatibility complex, class I, B
PubMed Reports
292 Renal coloboma syndrome  (Jan 04, 2024)
Autosomal dominant
Eye disorders PAX2 paired box 2
PubMed Reports
293 Salla disease  (Dec 29, 2023)
Autosomal recessive
Metabolic disorders SLC17A5 solute carrier family 17 member 5
PubMed Reports
294 Sandhoff disease  (Nov 30, 2023)
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders HEXB hexosaminidase subunit beta
PubMed Reports
295 Sarcoidosis  (Jan 04, 2024)
Autosomal dominant
Immune disorders BTNL2 butyrophilin like 2
PubMed Reports
296 Schimke immuno-osseous dysplasia  (Jan 04, 2024)
Autosomal recessive
Bone disorders SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
PubMed Reports
297 Schnyder crystalline corneal dystrophy  (Jan 04, 2024)
Autosomal dominant
Eye disorders UBIAD1 UbiA prenyltransferase domain containing 1
PubMed Reports
298 Schuurs-Hoeijmakers syndrome  (Jul 20, 2024)
Autosomal dominant
Neurodevelopmental disorders PACS1 phosphofurin acidic cluster sorting protein 1
PubMed Reports
299 Schwartz-Jampel syndrome  (Feb 20, 2024)
Autosomal recessive
Bone disorders HSPG2 heparan sulfate proteoglycan 2
PubMed Reports
300 Scleroderma  (Sep 05, 2023)
Immune disorders EXOSC10 exosome component 10
PubMed Reports