Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1674
Gene Symbol: DES
DES 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 124454
Gene Symbol: EARS2
EARS2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.100 CausalMutation phenotype CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		0.100 CausalMutation phenotype CLINVAR