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: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5860
Gene Symbol: QDPR
QDPR
quinoid dihydropteridine reductase 0.691 0.500 1.5E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.130 None 1.000 0 0 2014 2017
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.601 0.692 6.1E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 57511
Gene Symbol: COG6
COG6
component of oligomeric golgi complex 6 0.644 0.577 6.4E-16
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.120 None 1.000 0 0 2015 2019
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 57477
Gene Symbol: SHROOM4
SHROOM4
shroom family member 4 0.700 0.500 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
myogenesis regulating glycosidase (putative) 0.805 0.269 1.1E-11
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 5723
Gene Symbol: PSPH
PSPH
phosphoserine phosphatase 0.570 0.808 9.7E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
mucolipin 1 0.601 0.654 5.8E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
THO complex 2 0.650 0.538 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
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: 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: 58508
Gene Symbol: KMT2C
KMT2C
lysine methyltransferase 2C 0.558 0.692 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 58497
Gene Symbol: PRUNE1
PRUNE1
prune exopolyphosphatase 1 0.678 0.308 9.1E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.110 None 1.000 0 0 2017 2017