Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		0.110 GeneticVariation disease BEFREE The m.8344A>G mutation in the MTTK gene, which encodes the mitochondrial transfer RNA for lysine, is traditionally associated with myoclonic epilepsy and ragged-red fibres (MERRF), a multisystemic mitochondrial disease that is characterised by myoclonus, seizures, cerebellar ataxia, and mitochondrial myopathy with ragged-red fibres. 26995359 2016
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		0.110 Biomarker disease HPO
Entrez Id: 51067
Gene Symbol: YARS2
YARS2 		0.100 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.100 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.100 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
Entrez Id: 51067
Gene Symbol: YARS2
YARS2 		0.100 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
Entrez Id: 116150
Gene Symbol: NUS1
NUS1 		0.100 Biomarker disease HPO
Entrez Id: 4549
Gene Symbol: RNR1
RNR1 		0.100 Biomarker disease HPO
Entrez Id: 57531
Gene Symbol: HACE1
HACE1 		0.100 Biomarker disease HPO
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.100 Biomarker disease HPO
Entrez Id: 3630
Gene Symbol: INS
INS 		0.100 Biomarker disease HPO
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		0.100 Biomarker disease HPO
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9 		0.100 Biomarker disease HPO
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		0.100 Biomarker disease HPO
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		0.100 Biomarker disease HPO
Entrez Id: 4558
Gene Symbol: TRNF
TRNF 		0.100 Biomarker disease HPO
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ 		0.100 Biomarker disease HPO
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.100 Biomarker disease HPO
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 Biomarker disease HPO
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1 		0.100 Biomarker disease HPO
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		0.100 CausalMutation disease CLINVAR
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1 		0.100 Biomarker disease HPO
Entrez Id: 22858
Gene Symbol: CILK1
CILK1 		0.100 Biomarker disease HPO
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		0.100 Biomarker disease HPO
Entrez Id: 4536
Gene Symbol: ND2
ND2 		0.100 Biomarker disease HPO