Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8021
Gene Symbol: NUP214
NUP214 		0.400 Biomarker disease HPO
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		0.400 Biomarker disease HPO
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		0.400 CausalMutation disease CLINVAR
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5 		0.400 Biomarker disease HPO
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS 		0.400 Biomarker disease HPO
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B 		0.400 Biomarker disease HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.130 Biomarker disease HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.130 CausalMutation disease CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.120 Biomarker disease HPO
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		0.110 Biomarker disease HPO
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		0.110 Biomarker disease HPO
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		0.110 Biomarker disease HPO
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3 		0.110 Biomarker disease HPO
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.110 Biomarker disease HPO
Entrez Id: 80155
Gene Symbol: NAA15
NAA15 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1643
Gene Symbol: DDB2
DDB2 		0.100 Biomarker disease HPO
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		0.100 Biomarker disease HPO
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.100 Biomarker disease HPO
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.100 Biomarker disease HPO
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.100 Biomarker disease HPO
Entrez Id: 4536
Gene Symbol: ND2
ND2 		0.100 Biomarker disease HPO
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		0.100 Biomarker disease HPO
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR