COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 4 0.700 None 1.000 3 4 1998 2012