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
301 Sea-blue histiocyte syndrome  (Jan 04, 2024)
Autosomal dominant
Metabolic disorders/Lysosomal storage disorders APOE apolipoprotein E
PubMed Reports
302 Severe congenital nemaline myopathy  (Dec 29, 2023)
Autosomal recessive
Neuromuscular disorders KLHL40 kelch like family member 40
PubMed Reports
303 Sezary syndrome  (Dec 29, 2023)
Cancer disorders BCL10 BCL10 immune signaling adaptor
PubMed Reports
304 SHORT syndrome  (Dec 29, 2023)
Autosomal dominant
Endocrine disorders PIK3R1 phosphoinositide-3-kinase regulatory subunit 1
PubMed Reports
305 Shprintzen-Goldberg syndrome  (Sep 05, 2023)
Autosomal dominant
Bone disorders SKI SKI proto-oncogene
PubMed Reports
306 Sialidosis type 2  (Sep 05, 2023)
Autosomal recessive
Metabolic disorders/Lysosomal storage disorders NEU1 neuraminidase 1
PubMed Reports
307 Sjogren Syndrome  (Mar 09, 2023)
Autosomal recessive
Immune disorders IRF5 interferon regulatory factor 5
PubMed Reports
308 Smith-Lemli-Opitz syndrome  (Dec 29, 2023)
Autosomal recessive
Metabolic disorders DHCR7 7-dehydrocholesterol reductase
PubMed Reports
309 Sneddon syndrome  (Dec 29, 2023)
Autosomal recessive
Skin disorders ADA2 adenosine deaminase 2
PubMed Reports
310 Solitary median maxillary central incisor  (Dec 29, 2023)
Autosomal dominant
Oral disorders SHH sonic hedgehog signaling molecule
PubMed Reports