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: 23451
Gene Symbol: SF3B1
SF3B1
splicing factor 3b subunit 1 0.511 0.731 1.00
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
disease 0.040 None 1.000 4 0 2013 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
disease 0.040 None 1.000 4 1 2009 2013
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
disease 0.020 None 1.000 2 0 2009 2013
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
5'-aminolevulinate synthase 2 0.606 0.577 1.00
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
disease 0.010 None 1.000 1 0 2009 2009