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: 6154
Gene Symbol: RPL26
RPL26
ribosomal protein L26 0.695 0.423 0.92
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.716 0.423 0.68
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 None 0 0
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 moderate 0 0
Entrez Id: 6235
Gene Symbol: RPS29
RPS29
ribosomal protein S29 0.729 0.423 0.29
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 None 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 0 0
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
T-box transcription factor 3 0.525 0.769 0.99
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 6204
Gene Symbol: RPS10
RPS10
ribosomal protein S10 0.729 0.462 0.97
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 6218
Gene Symbol: RPS17
RPS17
ribosomal protein S17 0.751 0.462 0.33
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2008 2008
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.480 0.846 0.92
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 1991 1991
Entrez Id: 6229
Gene Symbol: RPS24
RPS24
ribosomal protein S24 0.695 0.423 0.68
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2005 2005
Entrez Id: 6231
Gene Symbol: RPS26
RPS26
ribosomal protein S26 0.716 0.538 0.85
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 6201
Gene Symbol: RPS7
RPS7
ribosomal protein S7 0.682 0.462 0.95
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2008 2008
Entrez Id: 6165
Gene Symbol: RPL35A
RPL35A
ribosomal protein L35a 0.736 0.385 0.90
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2008 2008
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
FA complementation group A 0.505 0.731 1.6E-68
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
FA complementation group C 0.507 0.808 2.8E-13
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 1992 1992
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
FA complementation group D2 0.479 0.885 1.1E-30
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2001 2001
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
FA complementation group E 0.553 0.808 1.5E-06
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 1997 1997
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.468 0.769 1.00
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2004 2004
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
FA complementation group F 0.535 0.731 0.46
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2000 2000