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
C0869083	Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM	disease		Disease or Syndrome	genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder		14