COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Pierre Robin syndrome with fetal chondrodysplasia ×
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: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 1 0.820 definitive 1.000 18 1 1964 2015