Source: ALL

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: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 1.000 None 0.988 84 60 1996 2019
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.020 None 1.000 2 0 2002 2008
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 79594
Gene Symbol: MUL1
MUL1 		mitochondrial E3 ubiquitin protein ligase 1 0.473 0.808 1.9E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		ataxin 1 0.534 0.769 0.97
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5589
Gene Symbol: PRKCSH
PRKCSH 		protein kinase C substrate 80K-H 0.674 0.538 1.0E-07
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 51444
Gene Symbol: RNF138
RNF138 		ring finger protein 138 0.760 0.192 0.68
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		ataxin 3 0.521 0.808 0.11
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2 		Cbl proto-oncogene like 2 0.476 0.808
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 836
Gene Symbol: CASP3
CASP3 		caspase 3 0.351 0.923 0.10
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 0.010 None 1.000 1 0 2002 2002