Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Axenfeld-Rieger syndrome PITX2 disease C3495488 Biomarker 0.6 orphanet , disgenet
Axenfeld-Rieger syndrome PITX2 disease C3495488 AlteredExpression 0.6 orphanet , disgenet
Axenfeld-Rieger syndrome PITX2 disease C3495488 GermlineCausalMutation 0.6 orphanet , disgenet
Axenfeld-Rieger syndrome PITX2 disease C3495488 GeneticVariation 0.6 orphanet , disgenet
Axenfeld-Rieger syndrome FOXC1 disease C3495488 AlteredExpression 0.4 orphanet , disgenet
Axenfeld-Rieger syndrome FOXC1 disease C3495488 GermlineCausalMutation 0.4 orphanet , disgenet
Axenfeld-Rieger syndrome FOXC1 disease C3495488 Biomarker 0.4 orphanet , disgenet
Axenfeld-Rieger syndrome FOXC1 disease C3495488 GeneticVariation 0.4 orphanet , disgenet
Axenfeld-Rieger syndrome COL4A1 disease C3495488 Biomarker 0.3 disgenet
Axenfeld-Rieger syndrome EGF disease C3495488 Biomarker 0.05 disgenet
Axenfeld-Rieger syndrome EGF disease C3495488 GeneticVariation 0.05 disgenet
Axenfeld-Rieger syndrome PAX6 disease C3495488 AlteredExpression 0.02 disgenet
Axenfeld-Rieger syndrome PAX6 disease C3495488 Biomarker 0.02 disgenet
Axenfeld-Rieger syndrome PRKCB disease C3495488 GeneticVariation 0.01 disgenet
Axenfeld-Rieger syndrome MYOC disease C3495488 GeneticVariation 0.01 disgenet
Axenfeld-Rieger syndrome GLI2 disease C3495488 Biomarker 0.01 disgenet
Axenfeld-Rieger syndrome PTPN11 disease C3495488 GeneticVariation 0.01 disgenet
Axenfeld-Rieger syndrome GJA1 disease C3495488 Biomarker 0.01 disgenet
Axenfeld-Rieger syndrome NFATC1 disease C3495488 GeneticVariation 0.01 disgenet
Axenfeld-Rieger syndrome RIEG2 disease C3495488 GeneticVariation 0.01 disgenet
Axenfeld-Rieger syndrome PAX2 disease C3495488 Biomarker 0.01 disgenet
Axenfeld-Rieger syndrome PRKCA disease C3495488 GeneticVariation 0.01 disgenet
Axenfeld-Rieger syndrome PLOD1 disease C3495488 AlteredExpression 0.01 disgenet
Axenfeld-Rieger syndrome TGFA disease C3495488 Biomarker 0.01 disgenet
Axenfeld-Rieger syndrome BARX2 disease C3495488 Biomarker 0.01 disgenet
Axenfeld-Rieger syndrome PRRT2 disease C3495488 GeneticVariation 0.01 disgenet
Axenfeld-Rieger syndrome FOXO6 disease C3495488 AlteredExpression 0.01 disgenet
Axenfeld-Rieger syndrome PRDM5 disease C3495488 GeneticVariation 0.01 disgenet
Axenfeld-Rieger syndrome SH3PXD2B disease C3495488 Biomarker 0.01 disgenet
Axenfeld-Rieger syndrome DLX2 disease C3495488 GeneticVariation 0.01 disgenet
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