Database statistics

Database content

Last update:17/9/2016
Disease325
Gene389
Mutation532 (Found in 292 genes)
Polymorphism305 (Found in 109 genes)
Article399

Mendelian Diseases

Mode of inheritance

Autosomal dominant5117.17%
Autosomal recessive21773.06%
X-linked dominant31.01%
X-linked recessive124.04%
Y-linked10.34%
Mitochondrial inheritance10.34%
Multiple93.03%
Multifactorial289.43%
Sporadic20.67%
Somatic mutation10.34%
Total Mendelian Diseases297

Disease classification

Not elsewhere classified41.35%
Certain infectious and parasitic diseases31.01%
Congenital malformations and chromosomal abnormalities7224.24%
Disorders involving the immune mechanism3511.78%
Diseases of the circulatory system41.35%
Diseases of the ear and mastoid process103.37%
Diseases of the eye and adnexa165.39%
Diseases of the genitourinary system72.36%
Diseases of the musculoskeletal system and connective tissue31.01%
Diseases of the nervous system5919.87%
Diseases of the skin and subcutaneous tissue20.67%
Endocrine, nutritional and metabolic disease7023.57%
Mental and behavioural disorders31.01%
Neoplasms72.36%
Pregnancy, childbirth and the puerperium10.34%
Diseases of the digestive system10.34%
Total Mendelian Diseases297

Base change type

deletion11621.8%
duplication142.63%
indel71.32%
insertion244.51%
others50.94%
repeat40.75%
substitution36268.05%
Total Mendelian variants532

Mutations

Diseases and Genes with the highest number of mutations
Disease nameNumber of mutation
Thalassemias, beta18
Phenylketonuria14
Ataxia-telangiectasia14
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset11
Hypercholesterolemia, familial11

Gene nameNumber of mutation
HBB18
ATM15
PAH14
BRCA112
CYP1B111


Multifactorial Diseases

Disease classification

Not elsewhere classified13.57%
Certain infectious and parasitic diseases310.71%
Diseases of the circulatory system725%
Diseases of the genitourinary system13.57%
Diseases of the musculoskeletal system and connective tissue13.57%
Endocrine, nutritional and metabolic disease414.29%
Neoplasms621.43%
Diseases of the digestive system517.86%
Total Genetic Diseases investigated in association studies28

Polymorphisms

Diseases and Genes with the highest number of polymorphisms
Disease nameNumber of polymorphism
Deafness, autosomal recessive 1012
Ataxia-telangiectasia11
Glaucoma 1A, primary open angle10
Leukemia, chronic myeloid6
Glaucoma, primary open angle1

Gene nameNumber of polymorphism
BRCA222
BRCA121
TMPRSS312
ATM11
MTHFR11