Source: CLINVAR

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: 58538
Gene Symbol: MPP4
MPP4
membrane palmitoylated protein 4 0.792 0.308 3.4E-18
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CDKN1A interacting zinc finger protein 1 0.617 0.500 6.3E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 56171
Gene Symbol: DNAH7
DNAH7
dynein axonemal heavy chain 7 0.769 0.346 1.4E-71
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 3
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0036572
Disease: Seizures
Seizures
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: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C0036572
Disease: Seizures
Seizures
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: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 4
Entrez Id: 2690
Gene Symbol: GHR
GHR
growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 56776
Gene Symbol: FMN2
FMN2
formin 2 0.610 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 57094
Gene Symbol: CPA6
CPA6
carboxypeptidase A6 0.716 0.346 4.4E-17
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 2
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 9
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.615 0.731 0.98
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 5746
Gene Symbol: PTH2R
PTH2R
parathyroid hormone 2 receptor 0.780 0.308 1.4E-20
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 57325
Gene Symbol: KAT14
KAT14
lysine acetyltransferase 14 0.890 0.077 1.3E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
adaptor related protein complex 4 subunit epsilon 1 0.656 0.385 2.8E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 23552
Gene Symbol: CDK20
CDK20
cyclin dependent kinase 20 0.682 0.462 5.9E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 23708
Gene Symbol: GSPT2
GSPT2
G1 to S phase transition 2 0.821 0.154 0.98
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
THAP domain containing 11 0.769 0.346 0.83
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1