Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 Biomarker phenotype HPO
Entrez Id: 8910
Gene Symbol: SGCE
SGCE 		0.200 Biomarker phenotype HPO
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.160 Biomarker phenotype HPO
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		0.160 Biomarker phenotype HPO
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.140 Biomarker phenotype HPO
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		0.130 Biomarker phenotype HPO
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.120 Biomarker phenotype HPO
Entrez Id: 351
Gene Symbol: APP
APP 		0.120 Biomarker phenotype HPO
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		0.120 Biomarker phenotype HPO
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.120 CausalMutation phenotype CLINVAR
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		0.120 Biomarker phenotype HPO
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 Biomarker phenotype HPO
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		0.120 CausalMutation phenotype CLINVAR
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.120 Biomarker phenotype HPO
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.120 Biomarker phenotype HPO
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1 		0.110 Biomarker phenotype HPO
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.110 Biomarker phenotype HPO
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG 		0.110 Biomarker phenotype HPO
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.110 Biomarker phenotype HPO
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.110 Biomarker phenotype HPO
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.110 Biomarker phenotype HPO
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		0.110 Biomarker phenotype HPO
Entrez Id: 6908
Gene Symbol: TBP
TBP 		0.110 Biomarker phenotype HPO
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		0.110 Biomarker phenotype HPO
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2 		0.110 Biomarker phenotype HPO