OMIM Gene Map Statistics


OMIM Morbid Map Scorecard (Updated November 12th, 2019) :

Total number of phenotypes* for which the molecular basis is known 6,536
Total number of genes with phenotype-causing mutation 4,177
* 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 12th, 2019) :

Number of genes with 1 phenotype 2,889
Number of genes with 2 phenotypes 777
Number of genes with 3 phenotypes 274
Number of genes with 4+ phenotypes 237

Dissected OMIM Morbid Map Scorecard (Updated November 12th, 2019) :

Class of phenotype Phenotype Gene *
Single gene disorders and traits 5,480 3,796
Susceptibility to complex disease or infection 691 501
"Nondiseases" 148 116
Somatic cell genetic disease 226 127
*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.)

OMIM Gene Map Statistics


OMIM Morbid Map Scorecard (Updated November 12th, 2019) :

Total number of phenotypes* for which the molecular basis is known 6,536
Total number of genes with phenotype-causing mutation 4,177
* 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 12th, 2019) :

Number of genes with 1 phenotype 2,889
Number of genes with 2 phenotypes 777
Number of genes with 3 phenotypes 274
Number of genes with 4+ phenotypes 237

Dissected OMIM Morbid Map Scorecard (Updated November 12th, 2019) :

Class of phenotype Phenotype Gene *
Single gene disorders and traits 5,480 3,796
Susceptibility to complex disease or infection 691 501
"Nondiseases" 148 116
Somatic cell genetic disease 226 127
*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.)