EXOSC9, exosome component 9, 5393

N. diseases: 55; N. variants: 8
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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0 1
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.110 None 1.000 1 1 2020 2020
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.120 None 1.000 2 1 2018 2020
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 10 15 0.300 None 1.000 1 2018 2018
CUI: C4748058
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D 		disease Disease or Syndrome 2 2 0.610 strong 1.000 2 2 2018 2020