Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Polydactyly preaxial type 1 GLI1 disease C1395852 GermlineCausalMutation 0.7 orphanet , disgenet
Polydactyly preaxial type 1 GLI1 disease C1395852 GeneticVariation 0.7 orphanet , disgenet
Polydactyly preaxial type 1 GLI1 disease C1395852 Biomarker 0.7 orphanet , disgenet
Polydactyly preaxial type 1 SALL4 disease C1395852 Biomarker 0.11 disgenet
Polydactyly preaxial type 1 GLI3 disease C1395852 Biomarker 0.11 disgenet
Polydactyly preaxial type 1 GLI3 disease C1395852 GeneticVariation 0.11 disgenet
Polydactyly preaxial type 1 DACT1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 WDR34 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 HYLS1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 B9D1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 TCTN3 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 WDPCP disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 TMEM107 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 NEK1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 TMEM67 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 WDR35 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 RPGRIP1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 RPGRIP1L disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 KIF7 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 B9D2 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 TCTN2 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 TMEM216 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 SHH disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 COL25A1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 CEP290 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 MAFB disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 LMBR1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 OFD1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 NSD2 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 HOXD13 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 CPLANE1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 WDR60 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 NELFA disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 GJA1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 DYNC2H1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 EFTUD2 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 CC2D2A disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 MKS1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 SMO disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 LETM1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 PHF8 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 CSPP1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 TMEM231 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 BHLHA9 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 IFT80 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 SALL1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 TFAP2A disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 CHN1 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 CEP55 disease C1395852 Biomarker 0.1 disgenet
Polydactyly preaxial type 1 RRDX disease C1395852 Biomarker 0.01 disgenet
Polydactyly preaxial type 1 ALB disease C1395852 GeneticVariation 0.01 disgenet
Polydactyly preaxial type 1 OXA1L disease C1395852 GeneticVariation 0.01 disgenet
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