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: 1911
Gene Symbol: PHC1
PHC1
polyhomeotic homolog 1 0.644 0.692 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.410 None 1.000 1 0 2013 2014
Entrez Id: 10426
Gene Symbol: TUBGCP3
TUBGCP3
tubulin gamma complex associated protein 3 0.780 0.231 0.46
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 None 0 0
Entrez Id: 93587
Gene Symbol: TRMT10A
TRMT10A
tRNA methyltransferase 10A 0.743 0.385 3.9E-10
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 1 0 2013 2015
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6
tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1.000 1 0 2012 2012
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
centrosomal protein 63 0.666 0.500 6.2E-25
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 6491
Gene Symbol: STIL
STIL
STIL centriolar assembly protein 0.584 0.731 0.20
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.350 strong 1.000 1 0 2009 2018
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
kinetochore scaffold 1 0.644 0.615 0.78
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.320 strong 1.000 1 0 2012 2019
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 1 0 2006 2011
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
nudE neurodevelopment protein 1 0.608 0.462 6.7E-03
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 10733
Gene Symbol: PLK4
PLK4
polo like kinase 4 0.551 0.731 7.1E-06
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.619 0.654 9.0E-34
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.350 strong 1.000 1 0 2012 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
POC1 centriolar protein A 0.650 0.500 3.3E-06
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 1804
Gene Symbol: DPP6
DPP6
dipeptidyl peptidase like 6 0.603 0.692 0.34
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.390 strong 1.000 0 0 2003 2017
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
microcephalin 1 0.540 0.846 7.8E-30
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.400 strong 1.000 0 0 2002 2018
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
RB binding protein 8, endonuclease 0.584 0.808 3.1E-12
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
centrosomal protein 152 0.653 0.500 2.7E-27
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 0 0 2019 2019
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
CDK5 regulatory subunit associated protein 2 0.682 0.577 4.6E-23
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.370 strong 1.000 0 0 2012 2018
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
WD repeat domain 62 0.597 0.615 2.4E-23
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.370 strong 1.000 0 0 2012 2019
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
centrosomal protein 135 0.695 0.615 3.6E-22
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 0 0 2012 2012
Entrez Id: 11113
Gene Symbol: CIT
CIT
citron rho-interacting serine/threonine kinase 0.555 0.692 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 moderate 0 0