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: 51294
Gene Symbol: PCDH12
PCDH12
protocadherin 12 0.722 0.346 2.9E-13
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.310 None 1.000 4 0 2008 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 None 1.000 2 0 2015 2016
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP
transformation/transcription domain associated protein 0.572 0.692 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 None 1.000 2 0 2017 2018
Entrez Id: 392636
Gene Symbol: AGMO
AGMO
alkylglycerol monooxygenase 0.780 0.423 6.8E-26
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.310 None 1.000 2 0 2016 2019
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.420 strong 1.000 1 0 2005 2010
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A
coiled-coil domain containing 88A 0.610 0.615 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.410 strong 1.000 1 0 2018 2019
Entrez Id: 51569
Gene Symbol: UFM1
UFM1
ubiquitin fold modifier 1 0.722 0.385 0.16
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.420 strong 1.000 1 0 2016 2018
Entrez Id: 51506
Gene Symbol: UFC1
UFC1
ubiquitin-fold modifier conjugating enzyme 1 0.716 0.462 3.6E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.410 strong 1.000 1 0 2018 2018
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
nucleoporin 214 0.638 0.385 5.5E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.410 None 1.000 1 0 2019 2019
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
centrosomal protein 63 0.666 0.500 6.2E-25
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.600 strong 1.000 1 0 2011 2015
Entrez Id: 833
Gene Symbol: CARS1
CARS1
cysteinyl-tRNA synthetase 1 0.722 0.538 4.0E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 83480
Gene Symbol: PUS3
PUS3
pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 84628
Gene Symbol: NTNG2
NTNG2
netrin G2 0.700 0.423 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
glutamic--pyruvic transaminase 2 0.650 0.577 3.4E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.420 strong 1.000 1 0 2015 2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3
zinc finger HIT-type containing 3 0.666 0.462 5.5E-07
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 None 1.000 1 0 2017 2017
Entrez Id: 10056
Gene Symbol: FARSB
FARSB
phenylalanyl-tRNA synthetase subunit beta 0.682 0.500 3.3E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 None 1.000 1 0 2018 2018
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
thioredoxin related transmembrane protein 2 0.821 0.231 0.65
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP
TRAF interacting protein 0.644 0.654 1.6E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.610 strong 1.000 1 0 2016 2016
Entrez Id: 1063
Gene Symbol: CENPF
CENPF
centromere protein F 0.601 0.654 1.9E-36
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.410 strong 1.000 1 0 2015 2015
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
stromal antigen 2 0.568 0.731 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 strong 1.000 1 0 2015 2015
Entrez Id: 1781
Gene Symbol: DYNC1I2
DYNC1I2
dynein cytoplasmic 1 intermediate chain 2 0.760 0.385 1.1E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 moderate 1.000 1 0 2019 2019