Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		0.110 Biomarker phenotype BEFREE The most striking clinical features of Schmid metaphyseal chondrodysplasia which appear within the first 2-3 years of life are: moderate short limbs and short stature, a waddling gait, and increasing shortness of stature with age. 30027601 2018
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		0.110 Biomarker phenotype HPO
Entrez Id: 147965
Gene Symbol: FAM98C
FAM98C 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10225
Gene Symbol: CD96
CD96 		0.100 Biomarker phenotype HPO
Entrez Id: 2690
Gene Symbol: GHR
GHR 		0.100 Biomarker phenotype HPO
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		0.100 Biomarker phenotype HPO
Entrez Id: 4148
Gene Symbol: MATN3
MATN3 		0.100 Biomarker phenotype HPO
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84992
Gene Symbol: PIGY
PIGY 		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: 4882
Gene Symbol: NPR2
NPR2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 Biomarker phenotype HPO
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3 		0.100 Biomarker phenotype HPO
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2 		0.100 Biomarker phenotype HPO
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		0.100 Biomarker phenotype HPO
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 Biomarker phenotype HPO
Entrez Id: 202018
Gene Symbol: TAPT1
TAPT1 		0.100 Biomarker phenotype HPO
Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 51199
Gene Symbol: NIN
NIN 		0.100 Biomarker phenotype HPO
Entrez Id: 2530
Gene Symbol: FUT8
FUT8 		0.100 Biomarker phenotype HPO