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: 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: 51133
Gene Symbol: KCTD3
KCTD3
potassium channel tetramerization domain containing 3 0.931 0.115 0.10
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: 118426
Gene Symbol: BORCS5
BORCS5
BLOC-1 related complex subunit 5 0.805 0.192 1.2E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 4 3 2009 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CLN6 transmembrane ER protein 0.670 0.231 1.0E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 2 2 2002 2008
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
ferric chelate reductase 1 like 0.666 0.231 1.5E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 4 2016 2016
Entrez Id: 8417
Gene Symbol: STX7
STX7
syntaxin 7 0.821 0.231 5.0E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 51550
Gene Symbol: CINP
CINP
cyclin dependent kinase 2 interacting protein 0.821 0.231 5.7E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2019 2019
Entrez Id: 54872
Gene Symbol: PIGG
PIGG
phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2016 2016
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 2 2014 2015
Entrez Id: 80152
Gene Symbol: CENPT
CENPT
centromere protein T 0.821 0.231 5.8E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1
TSPEAR antisense RNA 1 0.821 0.269
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 3 1 2015 2019
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
syntaxin 1B 0.650 0.308 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 0 2 2014 2018
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: 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: 65117
Gene Symbol: RSRC2
RSRC2
arginine and serine rich coiled-coil 2 0.769 0.308 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 15
Entrez Id: 11098
Gene Symbol: PRSS23
PRSS23
serine protease 23 0.722 0.346 1.9E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
metabolism of cobalamin associated A 0.743 0.346 9.4E-13
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 51371
Gene Symbol: POMP
POMP
proteasome maturation protein 0.674 0.346 0.91
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: 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