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: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
AP4B1 antisense RNA 1 0.857 0.172
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 2 2016 2016
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.815 0.207 1.3E-13
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 55753
Gene Symbol: OGDHL
OGDHL
oxoglutarate dehydrogenase like 0.886 0.069 8.1E-10
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.523 0.655 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 54587
Gene Symbol: MXRA8
MXRA8
matrix remodeling associated 8 4.9E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 51574
Gene Symbol: LARP7
LARP7
La ribonucleoprotein domain family member 7 0.713 0.414 5.6E-08
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.690 0.552 1.6E-15
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 29979
Gene Symbol: UBQLN1
UBQLN1
ubiquilin 1 0.690 0.379 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.558 0.552 1.4E-11
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 26278
Gene Symbol: SACS
SACS
sacsin molecular chaperone 0.624 0.517 1.3E-23
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 26050
Gene Symbol: SLITRK5
SLITRK5
SLIT and NTRK like family member 5 0.886 0.138 0.89
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
mitochondrial tRNA translation optimization 1 0.636 0.345 6.9E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 2 2016 2016
Entrez Id: 23557
Gene Symbol: SNAPIN
SNAPIN
SNAP associated protein 1.000 0.103 1.6E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
phosphatidylinositol glycan anchor biosynthesis class N 0.614 0.621 4.3E-18
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
glutamate receptor interacting protein 1 0.565 0.621 0.58
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 2 2016 2016
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.594 0.621 9.1E-50
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.672 0.379 8.5E-14
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 57453
Gene Symbol: DSCAML1
DSCAML1
DS cell adhesion molecule like 1 0.928 0.138 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.624 0.621 9.0E-45
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 2 2016 2016
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
patched domain containing 1 0.743 0.172 0.98
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 114825
Gene Symbol: PWWP2A
PWWP2A
PWWP domain containing 2A 0.99
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
chromosome 12 open reading frame 65 0.701 0.276 0.22
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 84983
Gene Symbol: FAM222A-AS1
FAM222A-AS1
FAM222A antisense RNA 1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 84915
Gene Symbol: FAM222A
FAM222A
family with sequence similarity 222 member A 0.86
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.762 0.345 1.00
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 1 1 2016 2016