Source: INFERRED

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: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 None 1.000 0 0 2017 2019
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 0.666 0.577 4.3E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 1999 2018
Entrez Id: 3242
Gene Symbol: HPD
HPD
4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 471
Gene Symbol: ATIC
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.576 0.731 3.0E-19
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
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 0 0 2017 2017
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9
A-kinase anchoring protein 9 0.638 0.385 4.5E-17
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 0 0 2013 2013
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2
aconitase 2 0.619 0.654 0.21
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 1 2019 2019
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2013 2013
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
activin A receptor type 1 0.535 0.731 0.33
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
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: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0