Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
0.100 Biomarker phenotype HPO
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56
0.100 Biomarker phenotype HPO
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.100 Biomarker phenotype HPO
Entrez Id: 2033
Gene Symbol: EP300
EP300
0.100 Biomarker phenotype HPO
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1
0.100 Biomarker phenotype HPO
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
0.100 Biomarker phenotype HPO
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
0.100 Biomarker phenotype HPO
Entrez Id: 90161
Gene Symbol: HS6ST2
HS6ST2
0.100 Biomarker phenotype HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 Biomarker phenotype HPO
Entrez Id: 145258
Gene Symbol: GSC
GSC
0.100 Biomarker phenotype HPO
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
0.100 Biomarker phenotype HPO
Entrez Id: 54453
Gene Symbol: RIN2
RIN2
0.100 Biomarker phenotype HPO
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
0.100 Biomarker phenotype HPO
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
0.100 Biomarker phenotype HPO
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
0.100 Biomarker phenotype HPO
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
0.100 Biomarker phenotype HPO
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.100 Biomarker phenotype HPO
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
0.100 Biomarker phenotype HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
0.100 Biomarker phenotype HPO
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
0.100 Biomarker phenotype HPO
Entrez Id: 633
Gene Symbol: BGN
BGN
0.100 Biomarker phenotype HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.100 Biomarker phenotype HPO
Entrez Id: 23384
Gene Symbol: SPECC1L
SPECC1L
0.100 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9158
Gene Symbol: FIBP
FIBP
0.100 Biomarker phenotype HPO