Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
CUI: C0036572
Disease: Seizures
Seizures 		0.400 GeneticVariation CLINVAR

Entrez Id: 10771
Gene Symbol: ZMYND11
ZMYND11
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958

2014
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR

Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820

2012
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation CLINVAR De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 23435086

2013
Entrez Id: 7874
Gene Symbol: USP7
USP7
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0036572
Disease: Seizures
Seizures 		0.160 CausalMutation CLINVAR

Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR

Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR

Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
CUI: C0036572
Disease: Seizures
Seizures 		0.400 CausalMutation CLINVAR

Entrez Id: 4576
Gene Symbol: TRNT
TRNT
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015

1993
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 22638997

2012
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074

2018
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464

2018
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
CUI: C0036572
Disease: Seizures
Seizures 		0.400 GeneticVariation CLINVAR

Entrez Id: 11277
Gene Symbol: TREX1
TREX1
CUI: C0036572
Disease: Seizures
Seizures 		0.400 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation CLINVAR

Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation CLINVAR Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. 19038967

2009