Source: HPO

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: 8560
Gene Symbol: DEGS1
DEGS1
delta 4-desaturase, sphingolipid 1 0.621 0.731 0.14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 0 0 2019 2019
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
histone deacetylase 4 0.484 0.885 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
extracellular matrix protein 1 0.576 0.731 4.7E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 0 0 2018 2018
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 23765
Gene Symbol: IL17RA
IL17RA
interleukin 17 receptor A 0.529 0.808 3.6E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2530
Gene Symbol: FUT8
FUT8
fucosyltransferase 8 0.603 0.692 9.9E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.619 0.654 9.0E-34
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 0 2018 2018
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2018 2019
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
FLVCR heme transporter 1 0.529 0.885 1.3E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 0 2018 2018
Entrez Id: 435
Gene Symbol: ASL
ASL
argininosuccinate lyase 0.593 0.731 8.6E-10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
p21 (RAC1) activated kinase 1 0.494 0.808 1.3E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 0 2018 2019
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4
potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 0 0 2018 2018
Entrez Id: 6095
Gene Symbol: RORA
RORA
RAR related orphan receptor A 0.533 0.808 0.40
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1
solute carrier family 12 member 1 0.631 0.538 6.7E-17
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
synaptosome associated protein 25 0.489 0.808 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 0 2018 2019
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 0.530 0.692 0.98
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2018 2018