Source: GENOMICS_ENGLAND

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: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 		disease 0.800 None 1.000 5 0 2000 2017
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.410 None 1.000 1 0 2003 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		disease 0.400 None 1.000 1 0 2000 2019
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 1.000 1 0 2001 2001