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
C0549473	Thyroid carcinoma	disease	Neoplasms; Endocrine System Diseases	Neoplastic Process	disease of anatomical entity; disease of cellular proliferation	Abnormality of the endocrine system; Neoplasm	4	23
C0162701	Polysomnography	phenotype		Diagnostic Procedure			117	247
C0020676	Hypothyroidism	disease	Endocrine System Diseases	Disease or Syndrome	disease of anatomical entity	Abnormality of the endocrine system	11	42