Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A 		0.300 Biomarker phenotype GENOMICS_ENGLAND Using exome sequencing, we identified a homozygous mutation, Pro-304-His in the IDH3A gene, in a patient suffering from infantile encephalopathy with peripheral and autonomic nervous system involvement. 28058510 2017
Entrez Id: 4191
Gene Symbol: MDH2
MDH2 		0.100 CausalMutation phenotype CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2639
Gene Symbol: GCDH
GCDH 		0.100 Biomarker phenotype HPO
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		0.100 Biomarker phenotype HPO
Entrez Id: 7084
Gene Symbol: TK2
TK2 		0.100 Biomarker phenotype HPO
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.100 Biomarker phenotype HPO
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A 		0.100 Biomarker phenotype HPO
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54 		0.100 Biomarker phenotype HPO
Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3 		0.100 Biomarker phenotype HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 728294
Gene Symbol: D2HGDH
D2HGDH 		0.100 Biomarker phenotype HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation phenotype CLINVAR