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: 56131
Gene Symbol: PCDHB4
PCDHB4
protocadherin beta 4 0.931 0.077 7.0E-12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
BLOC-1 related complex subunit 5 0.805 0.192 1.2E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 120534
Gene Symbol: ARL14EP
ARL14EP
ADP ribosylation factor like GTPase 14 effector protein 0.861 0.192 0.38
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 25980
Gene Symbol: AAR2
AAR2
AAR2 splicing factor 0.839 0.192 8.3E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
AP4B1 antisense RNA 1 0.805 0.231
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 3 1 2011 2012
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8417
Gene Symbol: STX7
STX7
syntaxin 7 0.821 0.231 5.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 51550
Gene Symbol: CINP
CINP
cyclin dependent kinase 2 interacting protein 0.821 0.231 5.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 2
Entrez Id: 80152
Gene Symbol: CENPT
CENPT
centromere protein T 0.821 0.231 5.8E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 92154
Gene Symbol: MTSS2
MTSS2
MTSS I-BAR domain containing 2 0.839 0.231 0.98
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 8785
Gene Symbol: MATN4
MATN4
matrilin 4 0.769 0.308 1.1E-08
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
THAP domain containing 11 0.769 0.346 0.83
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
POC1 centriolar protein B 0.705 0.385 3.0E-08
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 3 1 2014 2014
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
UTP23 small subunit processome component 0.711 0.385 8.6E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
tubulin beta 2B class IIb 0.610 0.385 0.99
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
serine active site containing 1 0.686 0.385 3.9E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 9493
Gene Symbol: KIF23
KIF23
kinesin family member 23 0.682 0.385 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.695 0.423 1.8E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2
ovo like zinc finger 2 0.633 0.462 0.71
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10408
Gene Symbol: MYCNOS
MYCNOS
MYCN opposite strand 0.700 0.462
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1