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: 23001
Gene Symbol: WDFY3
WDFY3
WD repeat and FYVE domain containing 3 0.928 0.103 1.00
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 1 0 2016 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: 10426
Gene Symbol: TUBGCP3
TUBGCP3
tubulin gamma complex associated protein 3 0.834 0.207 0.71
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 limited 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: 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: 5859
Gene Symbol: QARS
QARS
glutaminyl-tRNA synthetase 0.720 0.241 2.4E-13
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 moderate 1 0 2014 2014
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: 29980
Gene Symbol: DONSON
DONSON
downstream neighbor of SON 0.743 0.241 1.3E-07
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 2018 2018
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: 6884
Gene Symbol: TAF13
TAF13
TATA-box binding protein associated factor 13 0.752 0.276 1.8E-02
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 moderate 1 0 2017 2017
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: 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: 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: 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: 27229
Gene Symbol: TUBGCP4
TUBGCP4
tubulin gamma complex associated protein 4 0.713 0.345 4.5E-09
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 2015 2015
Entrez Id: 79840
Gene Symbol: NHEJ1
NHEJ1
non-homologous end joining factor 1 0.762 0.345 4.5E-03
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 2006 2006
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: 60386
Gene Symbol: SLC25A19
SLC25A19
solute carrier family 25 member 19 0.685 0.345 0.58
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 0 0
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: 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: 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: 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: 84879
Gene Symbol: MFSD2A
MFSD2A
major facilitator superfamily domain containing 2A 0.645 0.379 4.0E-02
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease 0.300 strong 1 0 2002 2002
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: 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