Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		0.500 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		0.500 CausalMutation phenotype CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.400 GeneticVariation phenotype CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.400 Biomarker phenotype MGD
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.200 CausalMutation phenotype CLINVAR
Entrez Id: 23064
Gene Symbol: SETX
SETX 		0.200 CausalMutation phenotype CLINVAR
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.200 CausalMutation phenotype CLINVAR
Entrez Id: 2911
Gene Symbol: GRM1
GRM1 		0.190 CausalMutation phenotype CLINVAR
Entrez Id: 767
Gene Symbol: CA8
CA8 		0.170 GeneticVariation phenotype CLINVAR
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		0.150 CausalMutation phenotype CLINVAR
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		0.150 GeneticVariation phenotype CLINVAR
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.130 CausalMutation phenotype CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 CausalMutation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.120 CausalMutation phenotype CLINVAR
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		0.120 CausalMutation phenotype CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.120 GeneticVariation phenotype CLINVAR
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.110 CausalMutation phenotype CLINVAR
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.110 CausalMutation phenotype CLINVAR
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		0.110 GeneticVariation phenotype CLINVAR
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		0.110 CausalMutation phenotype CLINVAR
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B 		0.110 CausalMutation phenotype CLINVAR
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		0.110 GeneticVariation phenotype CLINVAR
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23209
Gene Symbol: MLC1
MLC1 		0.100 GeneticVariation phenotype CLINVAR