DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

Semantic type

Disease Class

Type

HPO Term

DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes	Num. SNPs
C0027051	Myocardial Infarction	disease	Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases	Disease or Syndrome	disease of anatomical entity	Abnormality of the cardiovascular system	76	94
C1519383	Smoking Behaviors	phenotype	Behavior and Behavior Mechanisms	Individual Behavior			34	318
C0003873	Rheumatoid Arthritis	disease	Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases	Disease or Syndrome	disease of anatomical entity	Abnormality of the skeletal system	282	1613