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: 79648
Gene Symbol: MCPH1
MCPH1
microcephalin 1 0.584 0.621 1.7E-29
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.600 strong 1.000 0 0 2002 2012
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.561 0.517 0.95
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.590 strong 1.000 0 0 2005 2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.586 0.690 4.3E-48
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.590 strong 1.000 0 0 2004 2018
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.584 0.517 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.580 strong 1.000 0 0 2009 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.441 0.690 0.99
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.570 strong 1.000 0 0 1998 2015
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
CDK5 regulatory subunit associated protein 2 0.701 0.448 7.8E-23
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.570 strong 1.000 0 0 2005 2018
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
WD repeat domain 62 0.619 0.517 1.4E-23
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.560 strong 0.833 0 0 2010 2015
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.577 0.621 0.78
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.550 strong 1.000 0 0 2004 2015
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A
major facilitator superfamily domain containing 2A 0.645 0.379 4.0E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.530 strong 1.000 0 0 2015 2015
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
origin recognition complex subunit 1 0.609 0.621 3.1E-14
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.520 strong 1.000 0 0 2011 2016
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP
TRAF interacting protein 0.663 0.517 8.9E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.510 strong 1.000 0 0 2016 2016
Entrez Id: 29980
Gene Symbol: DONSON
DONSON
downstream neighbor of SON 0.743 0.241 1.3E-07
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.510 strong 1.000 0 0 2017 2017
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B 0.532 0.724 5.4E-10
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.510 strong 1.000 0 0 2004 2009
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.616 0.379 6.5E-15
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.510 strong 1.000 0 0 2010 2010
Entrez Id: 8364
Gene Symbol: HIST1H4C
HIST1H4C
histone cluster 1 H4 family member c 0.656 0.621 3.6E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 0 0 2017 2017
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
centrosomal protein 63 0.648 0.414 4.0E-24
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 0 0 2011 2011
Entrez Id: 79042
Gene Symbol: TSEN34
TSEN34
tRNA splicing endonuclease subunit 34 0.685 0.310 0.35
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 0 0 2009 2009
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.494 0.655 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 0 0 2008 2008
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2
tRNA splicing endonuclease subunit 2 0.685 0.310 1.4E-11
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 0 0 2009 2009
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.570 0.655 4.8E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 0 0 2007 2007
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP
STAM binding protein 0.667 0.448 5.3E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 0 0 2013 2013
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
tRNA splicing endonuclease subunit 54 0.667 0.345 2.2E-07
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 0 0 2009 2009
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.607 0.483 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.360 strong 1.000 0 0 2008 2016
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.524 0.724 5.9E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.360 strong 1.000 0 0 2006 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.350 strong 1.000 0 0 1999 2010