Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Seckel syndrome 1 ATR disease C0265202 Biomarker 0.8 orphanet , disgenet
Seckel syndrome 1 ATR disease C0265202 GermlineCausalMutation 0.8 orphanet , disgenet
Seckel syndrome 1 ATR disease C0265202 GeneticVariation 0.8 orphanet , disgenet
Seckel syndrome 1 CENPJ disease C0265202 Biomarker 0.71 orphanet , disgenet
Seckel syndrome 1 CENPJ disease C0265202 GermlineCausalMutation 0.71 orphanet , disgenet
Seckel syndrome 1 CENPJ disease C0265202 GeneticVariation 0.71 orphanet , disgenet
Seckel syndrome 1 PCNT disease C0265202 GeneticVariation 0.55 orphanet , disgenet
Seckel syndrome 1 PCNT disease C0265202 Biomarker 0.55 orphanet , disgenet
Seckel syndrome 1 ATRIP disease C0265202 GermlineCausalMutation 0.51 orphanet , disgenet
Seckel syndrome 1 ATRIP disease C0265202 Biomarker 0.51 orphanet , disgenet
Seckel syndrome 1 PLK4 disease C0265202 GermlineCausalMutation 0.51 orphanet , disgenet
Seckel syndrome 1 CENPE disease C0265202 GermlineCausalMutation 0.51 orphanet , disgenet
Seckel syndrome 1 CENPE disease C0265202 Biomarker 0.51 orphanet , disgenet
Seckel syndrome 1 PLK4 disease C0265202 Biomarker 0.51 orphanet , disgenet
Seckel syndrome 1 CENPE disease C0265202 GeneticVariation 0.51 orphanet , disgenet
Seckel syndrome 1 TRAIP disease C0265202 Biomarker 0.51 orphanet , disgenet
Seckel syndrome 1 TRAIP disease C0265202 GermlineCausalMutation 0.51 orphanet , disgenet
Seckel syndrome 1 CEP152 disease C0265202 GeneticVariation 0.41 orphanet , disgenet
Seckel syndrome 1 CEP152 disease C0265202 GermlineCausalMutation 0.41 orphanet , disgenet
Seckel syndrome 1 DNA2 disease C0265202 GeneticVariation 0.32 disgenet
Seckel syndrome 1 LIG4 disease C0265202 Biomarker 0.32 disgenet
Seckel syndrome 1 LIG4 disease C0265202 GeneticVariation 0.32 disgenet
Seckel syndrome 1 DNA2 disease C0265202 Biomarker 0.32 disgenet
Seckel syndrome 1 WDR4 disease C0265202 GeneticVariation 0.31 disgenet
Seckel syndrome 1 ORC1 disease C0265202 GeneticVariation 0.31 disgenet
Seckel syndrome 1 ORC1 disease C0265202 Biomarker 0.31 disgenet
Seckel syndrome 1 RBBP8 disease C0265202 GermlineCausalMutation 0.31 orphanet , disgenet
Seckel syndrome 1 RBBP8 disease C0265202 GeneticVariation 0.31 orphanet , disgenet
Seckel syndrome 1 WDR4 disease C0265202 Biomarker 0.31 disgenet
Seckel syndrome 1 IGF1 disease C0265202 Biomarker 0.3 disgenet
Seckel syndrome 1 CDT1 disease C0265202 Biomarker 0.3 disgenet
Seckel syndrome 1 DNMT3A disease C0265202 Biomarker 0.3 disgenet
Seckel syndrome 1 CENPF disease C0265202 Biomarker 0.3 disgenet
Seckel syndrome 1 CDC6 disease C0265202 Biomarker 0.3 disgenet
Seckel syndrome 1 ORC4 disease C0265202 Biomarker 0.3 disgenet
Seckel syndrome 1 XRCC4 disease C0265202 Biomarker 0.3 orphanet , disgenet
Seckel syndrome 1 GMNN disease C0265202 Biomarker 0.3 disgenet
Seckel syndrome 1 ORC6 disease C0265202 Biomarker 0.3 disgenet
Seckel syndrome 1 CEP63 disease C0265202 Biomarker 0.2 disgenet
Seckel syndrome 1 LZTR1 disease C0265202 Biomarker 0.2 disgenet
Seckel syndrome 1 SOS1 disease C0265202 Biomarker 0.2 disgenet
Seckel syndrome 1 RAF1 disease C0265202 Biomarker 0.2 disgenet
Seckel syndrome 1 KRAS disease C0265202 Biomarker 0.2 disgenet
Seckel syndrome 1 RIT1 disease C0265202 Biomarker 0.2 disgenet
Seckel syndrome 1 PTPN11 disease C0265202 Biomarker 0.2 disgenet
Seckel syndrome 1 ATM disease C0265202 Biomarker 0.02 disgenet
Seckel syndrome 1 NIN disease C0265202 GeneticVariation 0.02 orphanet , disgenet
Seckel syndrome 1 RTTN disease C0265202 GeneticVariation 0.02 disgenet
Seckel syndrome 1 MCPH1 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 CHEK1 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 GRAP2 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 CD5L disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 AHSA1 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 H2AX disease C0265202 AlteredExpression 0.01 disgenet
Seckel syndrome 1 MAPK1 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 TUBGCP6 disease C0265202 GeneticVariation 0.01 disgenet
Seckel syndrome 1 LARP7 disease C0265202 GeneticVariation 0.01 disgenet
Seckel syndrome 1 BRCA1 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 CRK disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 FANCC disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 FANCA disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 CD69 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 CEP135 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 FAH disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 MAPK14 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 PNKP disease C0265202 GeneticVariation 0.01 disgenet
Seckel syndrome 1 POLDIP2 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 AIMP2 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 TELO2 disease C0265202 GeneticVariation 0.01 disgenet
Seckel syndrome 1 DNMT1 disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 RNF19A disease C0265202 Biomarker 0.01 disgenet
Seckel syndrome 1 DONSON disease C0265202 GeneticVariation 0.01 disgenet
Seckel syndrome 1 NUP85 NA C0265202 NA NA orphanet
Seckel syndrome 1 NSMCE2 NA C0265202 NA NA orphanet
Seckel syndrome 1 ZNF335 NA C0265202 NA NA orphanet
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