Database statistics
Database content
Last update:12/7/2022| Disease | 325 |
|---|---|
| Gene | 389 |
| Mutation | 532 (Found in 292 genes) |
| Polymorphism | 305 (Found in 109 genes) |
| Article | 399 |
Mendelian Diseases
Mode of inheritance
| Autosomal dominant | 51 |  17.17% |
|---|---|---|
| Autosomal recessive | 217 | 73.06% |
| X-linked dominant | 3 | 1.01% |
| X-linked recessive | 12 | 4.04% |
| Y-linked | 1 | 0.34% |
| Mitochondrial inheritance | 1 | 0.34% |
| Multiple | 9 | 3.03% |
| Multifactorial | 28 | 9.43% |
| Sporadic | 2 | 0.67% |
| Somatic mutation | 1 | 0.34% |
| Total Mendelian Diseases | 297 |
Disease classification
| Not elsewhere classified | 4 | 1.35% |
|---|---|---|
| Certain infectious and parasitic diseases | 3 | 1.01% |
| Congenital malformations and chromosomal abnormalities | 72 | 24.24% |
| Disorders involving the immune mechanism | 35 | 11.78% |
| Diseases of the circulatory system | 4 | 1.35% |
| Diseases of the ear and mastoid process | 10 | 3.37% |
| Diseases of the eye and adnexa | 16 | 5.39% |
| Diseases of the genitourinary system | 7 | 2.36% |
| Diseases of the musculoskeletal system and connective tissue | 3 | 1.01% |
| Diseases of the nervous system | 59 | 19.87% |
| Diseases of the skin and subcutaneous tissue | 2 | 0.67% |
| Endocrine, nutritional and metabolic disease | 70 | 23.57% |
| Mental and behavioural disorders | 3 | 1.01% |
| Neoplasms | 7 | 2.36% |
| Pregnancy, childbirth and the puerperium | 1 | 0.34% |
| Diseases of the digestive system | 1 | 0.34% |
| Total Mendelian Diseases | 297 |
Base change type
| deletion | 116 | 21.8% |
|---|---|---|
| duplication | 14 | 2.63% |
| indel | 7 | 1.32% |
| insertion | 24 | 4.51% |
| others | 5 | 0.94% |
| repeat | 4 | 0.75% |
| substitution | 362 | 68.05% |
| Total Mendelian variants | 532 |
Mutations
Diseases and Genes with the highest number of mutations| Disease name | Number of mutation |
|---|---|
| Thalassemias, beta | 18 |
| Phenylketonuria | 14 |
| Ataxia-telangiectasia | 14 |
| Retinoblastoma | 11 |
| Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | 11 |
| Gene name | Number of mutation |
|---|---|
| HBB | 18 |
| ATM | 15 |
| PAH | 14 |
| BRCA1 | 12 |
| LDLR | 11 |
Multifactorial Diseases
Disease classification
| Not elsewhere classified | 1 | 3.57% |
|---|---|---|
| Certain infectious and parasitic diseases | 3 | 10.71% |
| Diseases of the circulatory system | 7 | 25% |
| Diseases of the genitourinary system | 1 | 3.57% |
| Diseases of the musculoskeletal system and connective tissue | 1 | 3.57% |
| Endocrine, nutritional and metabolic disease | 4 | 14.29% |
| Neoplasms | 6 | 21.43% |
| Diseases of the digestive system | 5 | 17.86% |
| Total Genetic Diseases investigated in association studies | 28 |
Polymorphisms
Diseases and Genes with the highest number of polymorphisms| Disease name | Number of polymorphism |
|---|---|
| Deafness, autosomal recessive 10 | 12 |
| Ataxia-telangiectasia | 11 |
| Glaucoma 1A, primary open angle | 10 |
| Leukemia, chronic myeloid | 6 |
| Transcobalamin II deficiency | 1 |
| Gene name | Number of polymorphism |
|---|---|
| BRCA2 | 22 |
| BRCA1 | 21 |
| TMPRSS3 | 12 |
| MTHFR | 11 |
| ATM | 11 |