Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50640
Gene Symbol: PNPLA8
PNPLA8 		0.100 Biomarker disease HPO
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 Biomarker disease HPO
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.100 Biomarker disease HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 Biomarker disease HPO
Entrez Id: 5649
Gene Symbol: RELN
RELN 		0.100 Biomarker disease HPO
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.100 CausalMutation disease CLINVAR
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10 		0.100 Biomarker disease HPO
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 Biomarker disease HPO
Entrez Id: 51083
Gene Symbol: GAL
GAL 		0.100 Biomarker disease HPO
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3 		0.100 Biomarker disease HPO
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.100 Biomarker disease HPO
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 Biomarker disease HPO
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		0.100 Biomarker disease HPO
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D 		0.100 Biomarker disease HPO
Entrez Id: 2563
Gene Symbol: GABRD
GABRD 		0.100 Biomarker disease HPO
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.100 Biomarker disease HPO
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		0.100 Biomarker disease HPO
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B 		0.010 GeneticVariation disease BEFREE Sequencing of 68 cases of SUDEP identified a 15-nucleotide deletion in the PHOX2B polyalanine repeat region in one case, a 16-year-old adolescent with focal dyscognitive seizures from age 5 years. 25085640 2014