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
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
C0242383	Age related macular degeneration	disease	Eye Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity		38	279
C2698399	Myeloperoxidase Measurement	phenotype		Laboratory Procedure			15	16