Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pseudoachondroplasia COMP disease C0410538 AlteredExpression 1 orphanet , disgenet
Pseudoachondroplasia COMP disease C0410538 GeneticVariation 1 orphanet , disgenet
Pseudoachondroplasia COMP disease C0410538 CausalMutation 1 orphanet , disgenet
Pseudoachondroplasia COMP disease C0410538 Biomarker 1 orphanet , disgenet
Pseudoachondroplasia COL9A3 disease C0410538 Biomarker 0.06 disgenet
Pseudoachondroplasia COL9A2 disease C0410538 Biomarker 0.06 disgenet
Pseudoachondroplasia COL9A2 disease C0410538 GeneticVariation 0.06 disgenet
Pseudoachondroplasia COL9A3 disease C0410538 GeneticVariation 0.06 disgenet
Pseudoachondroplasia COL9A1 disease C0410538 Biomarker 0.05 disgenet
Pseudoachondroplasia COL9A1 disease C0410538 GeneticVariation 0.05 disgenet
Pseudoachondroplasia SCN8A disease C0410538 GeneticVariation 0.04 disgenet
Pseudoachondroplasia SCN8A disease C0410538 Biomarker 0.04 disgenet
Pseudoachondroplasia MATN3 disease C0410538 Biomarker 0.03 disgenet
Pseudoachondroplasia MATN3 disease C0410538 GeneticVariation 0.03 disgenet
Pseudoachondroplasia ACAN disease C0410538 AlteredExpression 0.02 disgenet
Pseudoachondroplasia ACAN disease C0410538 Biomarker 0.02 disgenet
Pseudoachondroplasia CANX disease C0410538 AlteredExpression 0.01 disgenet
Pseudoachondroplasia P4HB disease C0410538 AlteredExpression 0.01 disgenet
Pseudoachondroplasia DMD disease C0410538 GeneticVariation 0.01 disgenet
Pseudoachondroplasia COL10A1 disease C0410538 GeneticVariation 0.01 disgenet
Pseudoachondroplasia DCN disease C0410538 GeneticVariation 0.01 disgenet
Pseudoachondroplasia EPHA3 disease C0410538 GeneticVariation 0.01 disgenet
Pseudoachondroplasia SPARC disease C0410538 Biomarker 0.01 disgenet
Pseudoachondroplasia MMRN1 disease C0410538 Biomarker 0.01 disgenet
Pseudoachondroplasia COL2A1 disease C0410538 GeneticVariation 0.01 disgenet
Pseudoachondroplasia FGFR3 disease C0410538 Biomarker 0.01 disgenet
Pseudoachondroplasia GLS disease C0410538 GeneticVariation 0.01 disgenet
Pseudoachondroplasia HAPLN1 disease C0410538 GeneticVariation 0.01 disgenet
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