Source: CLINVAR

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: 950
Gene Symbol: SCARB2
SCARB2 		scavenger receptor class B member 2 0.606 0.615 8.9E-05
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease 0.800 None 1.000 14 20 2008 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		scavenger receptor class B member 2 0.606 0.615 8.9E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		disease 0.400 None 1.000 1 1 2008 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		scavenger receptor class B member 2 0.606 0.615 8.9E-05
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.140 None 1.000 0 1 2009 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		scavenger receptor class B member 2 0.606 0.615 8.9E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		scavenger receptor class B member 2 0.606 0.615 8.9E-05
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.100 None 0 1