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: 93210
Gene Symbol: PGAP3
PGAP3
post-GPI attachment to proteins phospholipase 3 0.628 0.731 1.9E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 1.000 2 1 2016 2018
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 1.000 2 1 2014 2017
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 1.000 2 1 2015 2017
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 1.000 2 1 2008 2014
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 1.000 1 1 2007 2007
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 1.000 1 1 2009 2009
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
pyrroline-5-carboxylate reductase 2 0.682 0.462 2.1E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 64857
Gene Symbol: PLEKHG2
PLEKHG2
pleckstrin homology and RhoGEF domain containing G2 0.705 0.423 1.4E-09
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 64852
Gene Symbol: TUT1
TUT1
terminal uridylyl transferase 1, U6 snRNA-specific 0.805 0.192 4.5E-11
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 6098
Gene Symbol: ROS1
ROS1
ROS proto-oncogene 1, receptor tyrosine kinase 0.439 0.885 1.6E-72
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
solute carrier family 18 member A2 0.554 0.769 7.6E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 57584
Gene Symbol: ARHGAP21
ARHGAP21
Rho GTPase activating protein 21 0.722 0.308 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 57453
Gene Symbol: DSCAML1
DSCAML1
DS cell adhesion molecule like 1 0.839 0.346 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 54587
Gene Symbol: MXRA8
MXRA8
matrix remodeling associated 8 0.931 0.115 1.7E-07
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
palmitoyl-protein thioesterase 1 0.593 0.808 4.9E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 55753
Gene Symbol: OGDHL
OGDHL
oxoglutarate dehydrogenase like 0.760 0.308 9.7E-10
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 6594
Gene Symbol: SMARCA1
SMARCA1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 0.504 0.808 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1