OMIM Morbid Map Scorecard (Updated November 1st, 2024) :
| Total number of phenotypes* for which the molecular basis is known | 7,563 | |
| Total number of genes with phenotype-causing mutation | 4,938 | |
| * Phenotypes include (1) single-gene mendelian disorders and traits; (2) susceptibilities to cancer and complex disease (e.g., BRCA1 and familial breast-ovarian cancer susceptibility, 113705.0001, and CFH and macular degeneration, 134370.0008); (3) variations that lead to abnormal but benign laboratory test values ("nondiseases") and blood groups (e.g., lactate dehydrogenase B deficiency, 150100.0001 and ABO blood group system, 110300.0001); and (4) select somatic cell genetic disease (e.g., GNAS and McCune-Albright syndrome, 139320.0008 and IDH1 and glioblastoma multiforme, 147700.0001.) | ||
Distribution of Phenotypes across Genes (Updated November 1st, 2024) :
| Number of genes with 1 phenotype | 3,456 |
| Number of genes with 2 phenotypes | 903 |
| Number of genes with 3 phenotypes | 328 |
| Number of genes with 4+ phenotypes | 251 |
Dissected OMIM Morbid Map Scorecard (Updated November 1st, 2024) :
| Class of phenotype | Phenotype | Gene * |
|---|---|---|
| Single gene disorders and traits | 6,508 | 4,577 |
| Susceptibility to complex disease or infection | 674 | 504 |
| "Nondiseases" | 152 | 119 |
| Somatic cell genetic disease | 236 | 128 |
| *Some genes may be counted more than once because mutations in a gene may cause more than one phenotype and the phenotypes may be of different classes (e.g., activating somatic BRAF mutation underlying cancer, 164757.0001. and germline BRAF mutation in Noonan syndrome, 164757.0022.) | ||