POLR3B, RNA polymerase III subunit B, 55703

N. diseases: 71; N. variants: 19
Disease: Cerebellar hypoplasia with endosteal sclerosis ×
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: C1859301
Disease: Cerebellar hypoplasia with endosteal sclerosis
Cerebellar hypoplasia with endosteal sclerosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.400 None 1.000 2 2 2005 2017