Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
0.100 Biomarker disease HPO
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
0.100 CausalMutation disease CLINVAR
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
0.100 Biomarker disease HPO
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
0.100 Biomarker disease HPO
Entrez Id: 25828
Gene Symbol: TXN2
TXN2
0.100 Biomarker disease HPO
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
0.100 Biomarker disease HPO
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
0.100 Biomarker disease HPO
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
0.100 Biomarker disease HPO
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
0.100 CausalMutation disease CLINVAR
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.100 CausalMutation disease CLINVAR
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
0.100 Biomarker disease HPO
Entrez Id: 6884
Gene Symbol: TAF13
TAF13
0.100 CausalMutation disease CLINVAR
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
0.100 Biomarker disease HPO
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
0.100 GeneticVariation disease CLINVAR
Entrez Id: 5283
Gene Symbol: PIGH
PIGH
0.100 Biomarker disease HPO
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
0.100 CausalMutation disease CLINVAR
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
0.100 CausalMutation disease CLINVAR
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 8320
Gene Symbol: EOMES
EOMES
0.100 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
0.100 CausalMutation disease CLINVAR
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
0.100 Biomarker disease HPO