Source: LHGDN

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: 641
Gene Symbol: BLM
BLM 		BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 1.000 definitive 0.994 10 0 1994 2020
Entrez Id: 7486
Gene Symbol: WRN
WRN 		WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.100 None 1.000 1 0 1996 2017
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.050 None 1.000 1 0 2002 2018
Entrez Id: 3014
Gene Symbol: H2AX
H2AX 		H2A.X variant histone 0.484 0.808 0.18
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.020 None 1.000 1 0 2004 2007
Entrez Id: 6613
Gene Symbol: SUMO2
SUMO2 		small ubiquitin like modifier 2 0.666 0.615 0.87
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6612
Gene Symbol: SUMO3
SUMO3 		small ubiquitin like modifier 3 0.686 0.538 0.33
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D 		RAD51 paralog D 0.674 0.385 1.1E-09
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 57804
Gene Symbol: POLD4
POLD4 		DNA polymerase delta 4, accessory subunit 0.647 0.577 0.15
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2 		FA complementation group D2 0.479 0.885 1.1E-30
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 0.010 None 1.000 1 0 2007 2007