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: 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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 1993 2011
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.554 0.724
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 moderate 1 0 2011 2011
Entrez Id: 26128
Gene Symbol: KIF1BP
KIF1BP
KIF1 binding protein 0.663 0.483
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
prune exopolyphosphatase 1 0.762 0.207
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
FA complementation group A 0.567 0.621 4.3E-68
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.577 0.690 6.3E-57
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 1063
Gene Symbol: CENPF
CENPF
centromere protein F 0.672 0.448 2.1E-36
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 2016 2016
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.701 0.414 2.8E-35
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 85378
Gene Symbol: TUBGCP6
TUBGCP6
tubulin gamma complex associated protein 6 0.685 0.276 3.0E-31
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 2012 2015
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
FA complementation group D2 0.534 0.724 2.1E-30
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 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: 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: 392636
Gene Symbol: AGMO
AGMO
alkylglycerol monooxygenase 0.857 0.276 4.2E-25
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 1 0 2016 2016
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
centrosomal protein 63 0.648 0.414 4.0E-24
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 2011 2015
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 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: 55120
Gene Symbol: FANCL
FANCL
FA complementation group L 0.642 0.586 8.1E-23
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.690 8.1E-22
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
Entrez Id: 3376
Gene Symbol: IARS
IARS
isoleucyl-tRNA synthetase 0.642 0.586 1.0E-21
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 2017 2017