rs139632595, EXOSC9

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
CUI: C4748058
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
0.800 GeneticVariation UNIPROT Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. 29727687 2018
PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
CUI: C4748058
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
0.800 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
0.700 CausalMutation CLINVAR
Elevated brain lactate level by MRS
CUI: C4022762
Disease: Elevated brain lactate level by MRS
0.700 CausalMutation CLINVAR
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 CausalMutation CLINVAR
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
0.700 CausalMutation CLINVAR
Hyperextensible hand joints
CUI: C1856877
Disease: Hyperextensible hand joints
0.700 CausalMutation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
0.700 CausalMutation CLINVAR
Microbrachycephaly
CUI: C1855905
Disease: Microbrachycephaly
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Elevated brain choline level by MRS
CUI: C4022763
Disease: Elevated brain choline level by MRS
0.700 CausalMutation CLINVAR
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
0.700 CausalMutation CLINVAR
Multiple palmar creases
CUI: C1861872
Disease: Multiple palmar creases
0.700 CausalMutation CLINVAR
Reduced brain N-acetyl aspartate level by MRS
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
0.700 CausalMutation CLINVAR
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
0.700 CausalMutation CLINVAR
Cerebellar vermis atrophy
CUI: C0742028
Disease: Cerebellar vermis atrophy
0.700 CausalMutation CLINVAR
Diffuse white matter abnormalities
CUI: C4024923
Disease: Diffuse white matter abnormalities
0.700 CausalMutation CLINVAR