Source: HPO

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: 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 0 0 2016 2016
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 0 0 2011 2015
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 None 1.000 0 0 2005 2018
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 strong 1.000 0 0 1999 2019
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 None 1.000 0 0 2008 2019
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
WD repeat domain 62 0.597 0.615 2.4E-23
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.500 None 0.938 0 0 2010 2020
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.480 None 1.000 0 0 1998 2019
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.470 None 1.000 0 0 2010 2019
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.470 strong 1.000 0 0 2001 2016
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A
major facilitator superfamily domain containing 2A 0.626 0.538 1.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.450 None 1.000 0 0 2015 2018
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.450 None 1.000 0 0 2003 2015
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.440 strong 1.000 0 0 2011 2020
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.430 strong 1.000 0 0 2012 2019
Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A
kinesin family member 2A 0.590 0.731 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.430 None 1.000 0 0 2013 2019
Entrez Id: 29980
Gene Symbol: DONSON
DONSON
downstream neighbor of SON 0.636 0.538 1.3E-07
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.420 None 1.000 0 0 2017 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 0 0 2015 2018
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 0 0 2005 2010
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
kinesin family member 14 0.578 0.654 4.1E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.420 limited 1.000 0 0 2014 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 0 0 2016 2018
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.420 None 1.000 0 0 2000 2016
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
origin recognition complex subunit 1 0.595 0.654 1.7E-14
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.420 None 1.000 0 0 2011 2015
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.410 None 1.000 0 0 2004 2019
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 0 0 2019 2019
Entrez Id: 407975
Gene Symbol: MIR17HG
MIR17HG
miR-17-92a-1 cluster host gene 0.483 0.808
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.410 None 1.000 0 0 2011 2011
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 0 0 2018 2019