Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.100 None 0 0
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0