Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6497
Gene Symbol: SKI
SKI
0.100 Biomarker phenotype HPO
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
0.100 Biomarker phenotype HPO
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.100 Biomarker phenotype HPO
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
0.100 Biomarker phenotype HPO
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
0.100 Biomarker phenotype HPO
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.100 Biomarker phenotype HPO
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
0.100 Biomarker phenotype HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
0.100 Biomarker phenotype HPO
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
0.100 Biomarker phenotype HPO
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.100 Biomarker phenotype HPO
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.100 Biomarker phenotype HPO
Entrez Id: 4286
Gene Symbol: MITF
MITF
0.100 Biomarker phenotype HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.100 Biomarker phenotype HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.100 Biomarker phenotype HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.100 Biomarker phenotype HPO
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
0.100 Biomarker phenotype HPO
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
0.100 Biomarker phenotype HPO
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
0.100 Biomarker phenotype HPO
Entrez Id: 10584
Gene Symbol: COLEC10
COLEC10
0.100 Biomarker phenotype HPO
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
0.100 Biomarker phenotype HPO
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
0.100 Biomarker phenotype HPO
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
0.100 Biomarker phenotype HPO
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.100 Biomarker phenotype HPO