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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 51574
Gene Symbol: LARP7
LARP7
La ribonucleoprotein domain family member 7 0.713 0.414 5.6E-08
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 2016 2016
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.433 0.828 0.99
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 2003 2016
Entrez Id: 9419
Gene Symbol: CRIPT
CRIPT
CXXC repeat containing interactor of PDZ3 domain 0.762 0.207 9.8E-04
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 moderate 2 0 2014 2017
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: 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
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.502 0.759 2.6E-16
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 1993 1998
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL, cohesin loading factor 0.557 0.690 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 2004 2017
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.518 0.690 9.9E-13
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 2 0 1997 2015
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.503 0.724 3.8E-12
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 2013 2013
Entrez Id: 641
Gene Symbol: BLM
BLM
Bloom syndrome RecQ like helicase 0.562 0.690 9.3E-15
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 1993 1998
Entrez Id: 990
Gene Symbol: CDC6
CDC6
cell division cycle 6 0.604 0.621 9.8E-10
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 2 0 2011 2012
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: 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: 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: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.417 0.759 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 2 0 2015 2016