Source: INFERRED

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: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.130 None 1.000 0 0 2010 2016
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.543 0.731 8.9E-37
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
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 0 0 2015 2015
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.619 0.654 9.0E-34
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.130 None 1.000 0 0 2018 2018
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
myosin XVIIIB 0.628 0.615 1.0E-31
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6
tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
FA complementation group D2 0.479 0.885 1.1E-30
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
microcephalin 1 0.540 0.846 7.8E-30
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 None 0.941 0 0 2002 2019
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12
serine protease 12 0.682 0.308 8.4E-29
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
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: 22995
Gene Symbol: CEP152
CEP152
centrosomal protein 152 0.653 0.500 2.7E-27
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
RAD50 double strand break repair protein 0.556 0.808 3.4E-27
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None < 0.001 0 0 2012 2012
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
acyl-CoA synthetase family member 3 0.743 0.308 2.3E-26
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0