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: 29081
Gene Symbol: METTL5
METTL5
methyltransferase like 5 1.000 0.115 5.2E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.310 moderate 1.000 1 0 2019 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: 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: 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: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 moderate 1.000 1 0 2018 2018
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: 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: 23476
Gene Symbol: BRD4
BRD4
bromodomain containing 4 0.446 0.885 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 23761
Gene Symbol: PISD
PISD
phosphatidylserine decarboxylase 0.821 0.308 0.22
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 None 1.000 1 0 2019 2019
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: 4047
Gene Symbol: LSS
LSS
lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 moderate 1.000 1 0 2017 2017
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