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: 22
Gene Symbol: ABCB7
ABCB7 		ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.020 None 1.000 2 0 2011 2013
Entrez Id: 210
Gene Symbol: ALAD
ALAD 		aminolevulinate dehydratase 0.556 0.615 5.6E-05
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.020 None 1.000 2 0 2006 2009
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 613
Gene Symbol: BCR
BCR 		BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 947
Gene Symbol: CD34
CD34 		CD34 molecule 0.368 0.808 5.0E-06
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.020 None 1.000 2 0 2010 2013
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1440
Gene Symbol: CSF3
CSF3 		colony stimulating factor 3 0.377 0.885 0.38
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4 		C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2057
Gene Symbol: EPOR
EPOR 		erythropoietin receptor 0.526 0.692 1.0E-02
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3 		erb-b2 receptor tyrosine kinase 3 0.448 0.808 1.7E-15
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.100 None 0 0
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		FA complementation group B 0.468 0.769 1.00
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.020 None 0.500 2 0 1996 2002
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3 		forkhead box P3 0.368 0.846 0.99
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 94033
Gene Symbol: FTMT
FTMT 		ferritin mitochondrial 0.686 0.423 5.6E-03
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.020 None 1.000 2 0 2003 2013
Entrez Id: 9518
Gene Symbol: GDF15
GDF15 		growth differentiation factor 15 0.429 0.808 3.0E-07
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1 		major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3313
Gene Symbol: HSPA9
HSPA9 		heat shock protein family A (Hsp70) member 9 0.502 0.885 0.97
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.100 None 0 0
Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12 		immunoglobulin heavy variable 1-12 (pseudogene) 0.569 0.654
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.070 None 1.000 7 1 2006 2013
Entrez Id: 4352
Gene Symbol: MPL
MPL 		MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.020 None 1.000 2 0 2006 2013
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 5450
Gene Symbol: POU2AF1
POU2AF1 		POU class 2 homeobox associating factor 1 0.608 0.615 0.57
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease 0.010 None 1.000 1 0 2017 2017