Source: GENOMICS_ENGLAND

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: 54681
Gene Symbol: P4HTM
P4HTM
prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 2 0 2014 2019
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
transient receptor potential cation channel subfamily M member 3 0.663 0.769 5.7E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 2 0 2017 2019
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP
transformation/transcription domain associated protein 0.572 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 None 1.000 2 0 2017 2018
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
calcium voltage-gated channel subunit alpha1 B 0.650 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 2 0 2015 2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 2 0 2015 2017
Entrez Id: 23499
Gene Symbol: MACF1
MACF1
microtubule actin crosslinking factor 1 0.659 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 2 0 2006 2018
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
transmembrane protein 70 0.636 0.654 2.9E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2014 2014
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
ADP-ribosylserine hydrolase 0.743 0.308 5.8E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
protein phosphatase 2 catalytic subunit alpha 0.608 0.769 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2015 2015
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.601 0.692 6.1E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 1 0 2015 2015
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA
RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 None 1.000 1 0 2014 2014
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.460 strong 1.000 1 0 2006 2019
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2017 2017
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 1996 1996
Entrez Id: 476
Gene Symbol: ATP1A1
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1 0.601 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.310 strong 1.000 1 0 2018 2020
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 strong 1.000 1 0 2009 2018
Entrez Id: 4905
Gene Symbol: NSF
NSF
N-ethylmaleimide sensitive factor, vesicle fusing ATPase 0.659 0.577 1.8E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2007 2007
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 1 0 2018 2018
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
thioredoxin related transmembrane protein 2 0.821 0.231 0.65
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 2019