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 |