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 0.805 0.231
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 2
Entrez Id: 109864269
Gene Symbol: MIR302CHG
MIR302CHG
miR-302/367 cluster host gene 1.000 0.269
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 84983
Gene Symbol: FAM222A-AS1
FAM222A-AS1
FAM222A antisense RNA 1 1.000 0.038
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: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 2
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 2
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 2
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 2
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
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: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
microcephalin 1 0.540 0.846 7.8E-30
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
glycine decarboxylase 0.628 0.577 6.6E-28
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 26278
Gene Symbol: SACS
SACS
sacsin molecular chaperone 0.606 0.654 1.1E-23
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 2
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 23189
Gene Symbol: KANK1
KANK1
KN motif and ankyrin repeat domains 1 0.641 0.538 8.0E-18
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: 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: 3679
Gene Symbol: ITGA7
ITGA7
integrin subunit alpha 7 0.588 0.654 4.3E-17
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 57231
Gene Symbol: SNX14
SNX14
sorting nexin 14 0.659 0.423 6.1E-17
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 2
Entrez Id: 8558
Gene Symbol: CDK10
CDK10
cyclin dependent kinase 10 0.650 0.577 1.2E-16
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 2
Entrez Id: 79841
Gene Symbol: AGBL2
AGBL2
ATP/GTP binding protein like 2 0.644 0.654 4.0E-16
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1