Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3 		0.100 Biomarker disease HPO
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		0.100 Biomarker disease HPO
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9 		0.100 Biomarker disease HPO
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10 		0.100 Biomarker disease HPO
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D 		0.100 Biomarker disease HPO
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4 		0.100 Biomarker disease HPO
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.100 Biomarker disease HPO
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9419
Gene Symbol: CRIPT
CRIPT 		0.100 Biomarker disease HPO
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A 		0.100 Biomarker disease HPO
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 Biomarker disease HPO
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.100 Biomarker disease HPO
Entrez Id: 2563
Gene Symbol: GABRD
GABRD 		0.100 Biomarker disease HPO
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2 		0.100 Biomarker disease HPO
Entrez Id: 51083
Gene Symbol: GAL
GAL 		0.100 Biomarker disease HPO
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		0.100 Biomarker disease HPO
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 Biomarker disease HPO
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.100 Biomarker disease HPO
Entrez Id: 9211
Gene Symbol: LGI1
LGI1 		0.100 Biomarker disease HPO
Entrez Id: 64780
Gene Symbol: MICAL1
MICAL1 		0.100 Biomarker disease HPO
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 Biomarker disease HPO
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1 		0.100 Biomarker disease HPO
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.100 Biomarker disease HPO