Database statistics
Database content
Last update:12/7/2022Disease | 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 mutationsDisease name | Number of mutation |
---|---|
Thalassemias, beta | 18 |
Phenylketonuria | 14 |
Ataxia-telangiectasia | 14 |
Hypercholesterolemia, familial | 11 |
Retinoblastoma | 11 |
Gene name | Number of mutation |
---|---|
HBB | 18 |
ATM | 15 |
PAH | 14 |
BRCA1 | 12 |
RB1 | 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 polymorphismsDisease name | Number of polymorphism |
---|---|
Deafness, autosomal recessive 10 | 12 |
Ataxia-telangiectasia | 11 |
Glaucoma 1A, primary open angle | 10 |
Leukemia, chronic myeloid | 6 |
Diabetes mellitus, insulin-resistant, with acanthosis nigricans | 1 |
Gene name | Number of polymorphism |
---|---|
BRCA2 | 22 |
BRCA1 | 21 |
TMPRSS3 | 12 |
MTHFR | 11 |
ATM | 11 |