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: 200424
Gene Symbol: TET3
TET3
tet methylcytosine dioxygenase 3 0.633 0.615 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 None 0 0
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 1991 1991
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 1993 1993
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
hexosaminidase subunit beta 0.644 0.654 3.5E-10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 1995 1995
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: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 1997 1997
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2001 2001
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1
mannose-P-dolichol utilization defect 1 0.682 0.500 1.0E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2001 2001
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
glycine decarboxylase 0.628 0.577 6.6E-28
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2004 2004
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.310 strong 0.500 1 0 2003 2004
Entrez Id: 2271
Gene Symbol: FH
FH
fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2005 2005
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: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2007 2007
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 1 0 2008 2008
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
GTP cyclohydrolase 1 0.511 0.846 0.90
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2008 2008
Entrez Id: 2581
Gene Symbol: GALC
GALC
galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2010 2010
Entrez Id: 192683
Gene Symbol: SCAMP5
SCAMP5
secretory carrier membrane protein 5 0.839 0.192 0.65
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2010 2010
Entrez Id: 10102
Gene Symbol: TSFM
TSFM
Ts translation elongation factor, mitochondrial 0.736 0.423 1.9E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2011 2011
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2011 2011
Entrez Id: 1725
Gene Symbol: DHPS
DHPS
deoxyhypusine synthase 0.670 0.538 1.6E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2012 2012
Entrez Id: 10297
Gene Symbol: APC2
APC2
APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2012 2012
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20
TBC1 domain family member 20 0.621 0.500 0.93
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2013 2013
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
tripartite motif containing 8 0.588 0.731 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2013 2013
Entrez Id: 23316
Gene Symbol: CUX2
CUX2
cut like homeobox 2 0.644 0.500 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 81609
Gene Symbol: SNX27
SNX27
sorting nexin 27 0.722 0.346 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 None 1.000 1 0 2013 2013