Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6
0.100 Biomarker phenotype HPO
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
0.100 Biomarker phenotype HPO
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
0.100 Biomarker phenotype HPO
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
0.100 Biomarker phenotype HPO
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
0.100 Biomarker phenotype HPO
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
0.100 Biomarker phenotype HPO
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
0.100 Biomarker phenotype HPO
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
0.100 Biomarker phenotype HPO
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
0.100 Biomarker phenotype HPO
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.100 Biomarker phenotype HPO
Entrez Id: 80311
Gene Symbol: KLHL15
KLHL15
0.100 Biomarker phenotype HPO
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
0.100 Biomarker phenotype HPO
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
0.100 Biomarker phenotype HPO
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
0.100 Biomarker phenotype HPO
Entrez Id: 6469
Gene Symbol: SHH
SHH
0.100 Biomarker phenotype HPO
Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4
0.100 Biomarker phenotype HPO
Entrez Id: 7681
Gene Symbol: MKRN3
MKRN3
0.100 Biomarker phenotype HPO
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
0.100 Biomarker phenotype HPO
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.100 Biomarker phenotype HPO
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
0.100 Biomarker phenotype HPO
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
0.100 Biomarker phenotype HPO
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1
0.100 Biomarker phenotype HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2
0.100 Biomarker phenotype HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
0.100 CausalMutation phenotype CLINVAR