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: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.620 None 1.000 0 4 2001 2014
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.420 None 1.000 0 2 2007 2007
Entrez Id: 5551
Gene Symbol: PRF1
PRF1 		perforin 1 0.540 0.692 5.5E-06
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.400 None 0 1
Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A 		divergent protein kinase domain 1A 0.743 0.423 0.58
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.100 None 0 1
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.100 None 0 1