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: 6708
Gene Symbol: SPTA1
SPTA1
spectrin alpha, erythrocytic 1 0.696 0.310 2.9E-18
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 9 0 1987 2006
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
pyruvate kinase L/R 0.537 0.759 4.8E-07
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 8 0 1991 2008
Entrez Id: 6005
Gene Symbol: RHAG
RHAG
Rh associated glycoprotein 0.727 0.276 1.4E-02
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 7 0 1985 2012
Entrez Id: 9780
Gene Symbol: PIEZO1
PIEZO1
piezo type mechanosensitive ion channel component 1 0.639 0.655 1.0E-19
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 6 0 2006 2015
Entrez Id: 6229
Gene Symbol: RPS24
RPS24
ribosomal protein S24 0.752 0.310 0.69
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 6 0 1990 2015
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.720 0.241 1.00
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 6 0 1999 2014
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CCAAT enhancer binding protein alpha 0.533 0.586 0.56
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 moderate 6 0 2003 2012
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.510 0.690 0.95
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 5 0 2000 2014
Entrez Id: 2729
Gene Symbol: GCLC
GCLC
glutamate-cysteine ligase catalytic subunit 0.548 0.655 0.57
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 5 0 1996 2007
Entrez Id: 7456
Gene Symbol: WIPF1
WIPF1
WAS/WASL interacting protein family member 1 0.659 0.448 0.90
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 5 0 1998 2017
Entrez Id: 2038
Gene Symbol: EPB42
EPB42
erythrocyte membrane protein band 4.2 0.762 0.103 1.0E-08
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 5 0 1990 2004
Entrez Id: 9663
Gene Symbol: LPIN2
LPIN2
lipin 2 0.663 0.517 9.5E-05
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 5 0 1989 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 5 0 2001 2018
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
FA complementation group L 0.642 0.586 8.1E-23
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 5 0 2003 2016
Entrez Id: 2937
Gene Symbol: GSS
GSS
glutathione synthetase 0.648 0.586 1.4E-06
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 1996 2005
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
U2 small nuclear RNA auxiliary factor 1 0.624 0.552 0.99
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 limited 4 0 2012 2013
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
FA complementation group E 0.636 0.586 8.8E-06
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 1995 1999
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
triosephosphate isomerase 1 0.564 0.655 2.0E-02
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 1995 2010
Entrez Id: 6218
Gene Symbol: RPS17
RPS17
ribosomal protein S17 0.743 0.276 0.33
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 2008 2012
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.527 0.793 0.82
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 1999 2015
Entrez Id: 6201
Gene Symbol: RPS7
RPS7
ribosomal protein S7 0.720 0.379 0.96
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 2009 2017
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.586 0.552 4.8E-17
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 2004 2005
Entrez Id: 2672
Gene Symbol: GFI1
GFI1
growth factor independent 1 transcriptional repressor 0.604 0.345 0.24
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 2002 2010
Entrez Id: 6231
Gene Symbol: RPS26
RPS26
ribosomal protein S26 0.727 0.448 0.83
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 strong 4 0 2010 2015
Entrez Id: 2821
Gene Symbol: GPI
GPI
glucose-6-phosphate isomerase 0.527 0.690 2.4E-06
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype 0.300 moderate 4 0 1986 1998