Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.100 Biomarker phenotype HPO
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
0.100 Biomarker phenotype HPO
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 Biomarker phenotype HPO
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
0.100 Biomarker phenotype HPO
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
0.100 Biomarker phenotype HPO
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.100 Biomarker phenotype HPO
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
0.100 Biomarker phenotype HPO
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.100 Biomarker phenotype HPO
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.100 Biomarker phenotype HPO
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5
0.100 Biomarker phenotype HPO
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
0.100 Biomarker phenotype HPO
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
0.100 Biomarker phenotype HPO
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
0.100 Biomarker phenotype HPO
Entrez Id: 4796
Gene Symbol: TONSL
TONSL
0.100 Biomarker phenotype HPO
Entrez Id: 1062
Gene Symbol: CENPE
CENPE
0.100 Biomarker phenotype HPO
Entrez Id: 23118
Gene Symbol: TAB2
TAB2
0.100 Biomarker phenotype HPO
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.100 Biomarker phenotype HPO
Entrez Id: 8726
Gene Symbol: EED
EED
0.100 Biomarker phenotype HPO
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 Biomarker phenotype HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.100 Biomarker phenotype HPO
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
0.100 Biomarker phenotype HPO
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
0.100 Biomarker phenotype HPO