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: 23400
Gene Symbol: ATP13A2
ATP13A2 		ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		disease 1.000 None 0.981 4 0 1991 2019
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		disease 0.710 None 1.000 4 0 2006 2018
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease 0.600 strong 0.946 2 0 2007 2019
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.440 strong 0.833 2 0 2010 2019
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		disease 0.310 strong 1.000 3 0 2016 2017
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0