GDF5-AS1, GDF5 antisense RNA 1, 554250

N. diseases: 9; N. variants: 19
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: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 3 0.100 None 1.000 1 2 2003 2003
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 3 2010 2010
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 3 2010 2010
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 8 0.100 None 0 2
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 3 0.100 None 0 3
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 4 0.100 None 0 3
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 8 0.100 None 0 4
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		disease Disease or Syndrome 3 1 0.100 None 0 1
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		disease Disease or Syndrome 3 3 0.100 None 0 3