PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
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: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 12 0.600 strong 1.000 18 12 1997 2017