DisGeNET - a database of gene-disease associations

Source: CLINVAR

Diseases associated to Variant: rs1114167453 ×

Results per page

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
C0007193	Cardiomyopathy, Dilated	group	Cardiovascular Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity	Abnormality of the cardiovascular system	43	443
C4023398	Congenital abnormal hair pattern	disease		Congenital Abnormality		Abnormality of the integument	1	1
C0151908	Dry skin	phenotype	Skin and Connective Tissue Diseases	Sign or Symptom		Abnormality of the integument	14	11
C0040427	Tooth Abnormalities	group	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases	Anatomical Abnormality		Abnormality of head or neck	2	2