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 0.676 0.552 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.410 limited 1.000 2 0 2013 2015
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.616 0.379 6.5E-15
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.410 strong 1.000 1 0 2010 2015
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
microcephalin 1 0.584 0.621 1.7E-29
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.400 strong 1.000 0 0 2002 2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.586 0.690 4.3E-48
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.370 strong 1.000 0 0 2004 2017
Entrez Id: 6491
Gene Symbol: STIL
STIL
STIL, centriolar assembly protein 0.616 0.483 0.12
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.350 strong 1.000 1 0 2009 2015
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
CDK5 regulatory subunit associated protein 2 0.701 0.448 7.8E-23
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.340 strong 1.000 0 0 2013 2018
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
kinetochore scaffold 1 0.696 0.414
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.330 strong 1.000 3 0 2010 2016
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.596 0.586 5.2E-27
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.320 strong 1.000 1 0 2006 2012
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
WD repeat domain 62 0.619 0.517 1.4E-23
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.320 strong 1.000 0 0 2014 2017
Entrez Id: 93587
Gene Symbol: TRMT10A
TRMT10A
tRNA methyltransferase 10A 0.752 0.345 1.4E-10
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 5 0 2015 2016
Entrez Id: 1021
Gene Symbol: CDK6
CDK6
cyclin dependent kinase 6 0.508 0.690 0.98
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 limited 1.000 3 0 2014 2015
Entrez Id: 51124
Gene Symbol: IER3IP1
IER3IP1
immediate early response 3 interacting protein 1 0.707 0.310 2.7E-02
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 2 0 2013 2015
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.752 0.241 5.6E-32
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 1 0 2012 2016
Entrez Id: 163786
Gene Symbol: SASS6
SASS6
SAS-6 centriolar assembly protein 0.743 0.276 1.3E-07
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 limited 1.000 1 0 2015 2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
X-ray repair cross complementing 4 0.550 0.724 8.1E-07
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 1 0 2014 2016
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
centrosomal protein 135 0.752 0.345 2.5E-22
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 0 0 2012 2012
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
centrosomal protein 152 0.667 0.379 2.8E-27
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.310 strong 1.000 0 0 2010 2010
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.607 0.483 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 5 0 2008 2016
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
POC1 centriolar protein A 0.696 0.414 3.5E-06
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 4 0 2012 2017
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
zinc finger protein 335 0.707 0.379 3.4E-07
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 moderate 3 0 2013 2015
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.559 0.759 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 3 0 2012 2017
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.672 0.414 6.3E-15
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 3 0 2005 2015
Entrez Id: 1663
Gene Symbol: DDX11
DDX11
DEAD/H-box helicase 11 0.663 0.552 1.0E-19
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 3 0 2010 2016
Entrez Id: 9373
Gene Symbol: PLAA
PLAA
phospholipase A2 activating protein 0.752 0.241 0.51
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 2 0 2017 2017
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.672 0.379 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 1993 2012