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: 4576
Gene Symbol: TRNT
TRNT
tRNA 0.729 0.538
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 4 1 1993 2018
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 0.792 0.385
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2006 2006
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: 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: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 0.656 0.577
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 2
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: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2020 2020
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 8 6 2006 2018
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
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: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 3
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: 54084
Gene Symbol: TSPEAR
TSPEAR
thrombospondin type laminin G domain and EAR repeats 0.736 0.385 2.4E-17
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2016 2016
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
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016