EXOSC9, exosome component 9, 5393

N. diseases: 19; N. variants: 2
Source: CLINVAR ×
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: C4748058
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D 		disease Disease or Syndrome 1 2 0.610 strong 1.000 0 2 2018 2020
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 36 46 0.120 None 1.000 0 1 2018 2020
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 9 14 0.110 None 1.000 0 1 2020 2020
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 21 0.100 None 0 1
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 4 4 0.100 None 0 1
CUI: C4022763
Disease: Elevated brain choline level by MRS
Elevated brain choline level by MRS 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		phenotype Finding 2 2 0.100 None 0 1
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 8 8 0.100 None 0 1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 89 118 0.100 None 0 1
CUI: C1861872
Disease: Multiple palmar creases
Multiple palmar creases 		phenotype Finding 2 2 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 0 1
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 31 38 0.100 None 0 1
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 6 6 0.100 None 0 1
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 45 62 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 0 1
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 11 11 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 0 1
CUI: C1855905
Disease: Microbrachycephaly
Microbrachycephaly 		phenotype Finding 1 1 0.100 None 0 1