Source: GENOMICS_ENGLAND

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: 113235
Gene Symbol: SLC46A1
SLC46A1 		solute carrier family 46 member 1 0.606 0.731 2.2E-02
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.600 None 1.000 1 0 2007 2011
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2 		FA complementation group D2 0.479 0.885 1.1E-30
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.430 strong 0.750 1 0 2015 2019
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21 		DnaJ heat shock protein family (Hsp40) member C21 0.606 0.731 2.1E-07
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.420 strong 1.000 2 0 2016 2018
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.420 strong 1.000 2 0 1996 2019
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		FA complementation group C 0.507 0.808 2.8E-13
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.410 strong 1.000 3 0 1992 2016
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.400 strong 1.000 3 0 1999 2009
Entrez Id: 84464
Gene Symbol: SLX4
SLX4 		SLX4 structure-specific endonuclease subunit 0.565 0.731 1.6E-22
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 2178
Gene Symbol: FANCE
FANCE 		FA complementation group E 0.553 0.808 1.5E-06
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 2189
Gene Symbol: FANCG
FANCG 		FA complementation group G 0.556 0.769 2.5E-14
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.320 strong 1.000 3 0 1998 2019
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.310 strong 1.000 1 0 2017 2018
Entrez Id: 114803
Gene Symbol: MYSM1
MYSM1 		Myb like, SWIRM and MPN domains 1 0.700 0.462 4.3E-02
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.310 strong 1.000 1 0 2015 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.310 strong 1.000 1 0 2017 2018
Entrez Id: 57697
Gene Symbol: FANCM
FANCM 		FA complementation group M 0.543 0.731 2.4E-15
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.310 moderate 1.000 1 0 2015 2017
Entrez Id: 90332
Gene Symbol: EXOC3L2
EXOC3L2 		exocyst complex component 3 like 2 0.722 0.500 0.76
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.300 strong 1.000 2 0 2016 2019
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 2188
Gene Symbol: FANCF
FANCF 		FA complementation group F 0.535 0.731 0.46
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		FA complementation group B 0.468 0.769 1.00
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 55120
Gene Symbol: FANCL
FANCL 		FA complementation group L 0.551 0.731 5.9E-23
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.300 strong 1.000 1 0 2017 2017