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: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.527 0.759 6.7E-12
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 1993 1993
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: 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: 23141
Gene Symbol: ANKLE2
ANKLE2
ankyrin repeat and LEM domain containing 2 0.713 0.379 1.4E-10
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 1 0 2015 2015
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
ATR interacting protein 0.720 0.414 1.8E-05
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX, chromatin remodeler 0.489 0.690 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.586 0.552 4.8E-17
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.584 0.517 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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
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: 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: 1062
Gene Symbol: CENPE
CENPE
centromere protein E 0.633 0.517 0.17
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 0 0
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: 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: 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: 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: 81620
Gene Symbol: CDT1
CDT1
chromatin licensing and DNA replication factor 1 0.645 0.517 3.9E-10
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 2011 2011
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.451 0.862 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 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: 150468
Gene Symbol: CKAP2L
CKAP2L
cytoskeleton associated protein 2 like 0.672 0.379 6.2E-04
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 2015 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