PITX1, paired like homeodomain 1, 5307

N. diseases: 109; N. variants: 5
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly ×
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: C1861313
Disease: Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.620 None 1.000 3 2012 2014