Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ischiopatellar dysplasia TBX4 disease C1840061 Biomarker 0.75 orphanet , disgenet
Ischiopatellar dysplasia TBX4 disease C1840061 CausalMutation 0.75 orphanet , disgenet
Ischiopatellar dysplasia TBX4 disease C1840061 GeneticVariation 0.75 orphanet , disgenet
Ischiopatellar dysplasia TBX4 disease C1840061 GermlineCausalMutation 0.75 orphanet , disgenet
Ischiopatellar dysplasia GP6 disease C1840061 GeneticVariation 0.05 disgenet
Ischiopatellar dysplasia GP6 disease C1840061 Biomarker 0.05 disgenet
Ischiopatellar dysplasia SEPHS1 disease C1840061 Biomarker 0.02 disgenet
Ischiopatellar dysplasia GAS6 disease C1840061 GeneticVariation 0.02 disgenet
Ischiopatellar dysplasia PDSS1 disease C1840061 Biomarker 0.02 disgenet
Ischiopatellar dysplasia SMS disease C1840061 Biomarker 0.02 disgenet
Ischiopatellar dysplasia PLA2G2A disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia PEAR1 disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia PGR-AS1 disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia SOX9 disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia OPRL1 disease C1840061 Biomarker 0.01 disgenet
Ischiopatellar dysplasia PLA2G1B disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia POU2F3 disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia SERPINC1 disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia BDNF disease C1840061 AlteredExpression 0.01 disgenet
Ischiopatellar dysplasia PLA2G6 disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia ATXN3 disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia PLG disease C1840061 GeneticVariation 0.01 disgenet
Ischiopatellar dysplasia GAD2 disease C1840061 Biomarker 0.01 disgenet
Ischiopatellar dysplasia NOL3 disease C1840061 Biomarker 0.01 disgenet
Ischiopatellar dysplasia PNOC disease C1840061 Biomarker 0.01 disgenet
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