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: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 51604
Gene Symbol: PIGT
PIGT
phosphatidylinositol glycan anchor biosynthesis class T 0.633 0.615 7.3E-10
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5105
Gene Symbol: PCK1
PCK1
phosphoenolpyruvate carboxykinase 1 0.608 0.538 8.7E-15
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.691 0.385 8.2E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 55746
Gene Symbol: NUP133
NUP133
nucleoporin 133 0.678 0.577 9.3E-05
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
palmitoyl-protein thioesterase 1 0.593 0.808 4.9E-05
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1
tRNA isopentenyltransferase 1 0.621 0.692 4.1E-11
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0