Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L 		0.100 CausalMutation phenotype CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.100 Biomarker phenotype HPO
Entrez Id: 4193
Gene Symbol: MDM2
MDM2 		0.100 Biomarker phenotype HPO
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1 		0.100 Biomarker phenotype HPO
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.100 Biomarker phenotype HPO
Entrez Id: 7054
Gene Symbol: TH
TH 		0.100 Biomarker phenotype HPO
Entrez Id: 6905
Gene Symbol: TBCE
TBCE 		0.100 Biomarker phenotype HPO
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.100 Biomarker phenotype HPO
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.100 Biomarker phenotype HPO
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.100 Biomarker phenotype HPO
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 Biomarker phenotype HPO
Entrez Id: 133686
Gene Symbol: NADK2
NADK2 		0.100 Biomarker phenotype HPO
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.100 Biomarker phenotype HPO