Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, Bardet-Biedl MKS1 disease C0752166 GeneticVariation 0.74 orphanet , disgenet
Syndrome, Bardet-Biedl MKS1 disease C0752166 Biomarker 0.74 orphanet , disgenet
Syndrome, Bardet-Biedl MKS1 disease C0752166 GermlineCausalMutation 0.74 orphanet , disgenet
Syndrome, Bardet-Biedl BBS10 disease C0752166 GeneticVariation 0.7 orphanet , disgenet
Syndrome, Bardet-Biedl BBS10 disease C0752166 Biomarker 0.7 orphanet , disgenet
Syndrome, Bardet-Biedl BBS10 disease C0752166 GermlineCausalMutation 0.7 orphanet , disgenet
Syndrome, Bardet-Biedl BBS10 disease C0752166 CausalMutation 0.7 orphanet , disgenet
Syndrome, Bardet-Biedl LZTFL1 disease C0752166 CausalMutation 0.64 orphanet , disgenet
Syndrome, Bardet-Biedl LZTFL1 disease C0752166 Biomarker 0.64 orphanet , disgenet
Syndrome, Bardet-Biedl LZTFL1 disease C0752166 GermlineCausalMutation 0.64 orphanet , disgenet
Syndrome, Bardet-Biedl LZTFL1 disease C0752166 GeneticVariation 0.64 orphanet , disgenet
Syndrome, Bardet-Biedl SDCCAG8 disease C0752166 CausalMutation 0.64 orphanet , disgenet
Syndrome, Bardet-Biedl SDCCAG8 disease C0752166 Biomarker 0.64 orphanet , disgenet
Syndrome, Bardet-Biedl SDCCAG8 disease C0752166 GeneticVariation 0.64 orphanet , disgenet
Syndrome, Bardet-Biedl SDCCAG8 disease C0752166 GermlineCausalMutation 0.64 orphanet , disgenet
Syndrome, Bardet-Biedl BBIP1 disease C0752166 GermlineCausalMutation 0.61 orphanet , disgenet
Syndrome, Bardet-Biedl BBIP1 disease C0752166 CausalMutation 0.61 orphanet , disgenet
Syndrome, Bardet-Biedl BBIP1 disease C0752166 Biomarker 0.61 orphanet , disgenet
Syndrome, Bardet-Biedl CEP290 disease C0752166 AlteredExpression 0.5 orphanet , disgenet
Syndrome, Bardet-Biedl CEP290 disease C0752166 GeneticVariation 0.5 orphanet , disgenet
Syndrome, Bardet-Biedl CEP290 disease C0752166 Biomarker 0.5 orphanet , disgenet
Syndrome, Bardet-Biedl ARL6 disease C0752166 GeneticVariation 0.48 orphanet , disgenet
Syndrome, Bardet-Biedl ARL6 disease C0752166 Biomarker 0.48 orphanet , disgenet
Syndrome, Bardet-Biedl ARL6 disease C0752166 CausalMutation 0.48 orphanet , disgenet
Syndrome, Bardet-Biedl IFT27 disease C0752166 GermlineCausalMutation 0.42 orphanet , disgenet
Syndrome, Bardet-Biedl IFT27 disease C0752166 GeneticVariation 0.42 orphanet , disgenet
Syndrome, Bardet-Biedl IFT27 disease C0752166 CausalMutation 0.42 orphanet , disgenet
Syndrome, Bardet-Biedl BBS1 disease C0752166 GeneticVariation 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl MKKS disease C0752166 CausalMutation 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl MKKS disease C0752166 GeneticVariation 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl BBS1 disease C0752166 CausalMutation 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl MKKS disease C0752166 Biomarker 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl BBS1 disease C0752166 Biomarker 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl BBS4 disease C0752166 GeneticVariation 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl BBS2 disease C0752166 Biomarker 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl BBS2 disease C0752166 GeneticVariation 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl BBS4 disease C0752166 CausalMutation 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl BBS2 disease C0752166 CausalMutation 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl BBS4 disease C0752166 Biomarker 0.4 orphanet , disgenet
Syndrome, Bardet-Biedl TTC8 disease C0752166 CausalMutation 0.34 orphanet , disgenet
Syndrome, Bardet-Biedl TTC8 disease C0752166 Biomarker 0.34 orphanet , disgenet
Syndrome, Bardet-Biedl TTC8 disease C0752166 GeneticVariation 0.34 orphanet , disgenet
Syndrome, Bardet-Biedl IFT172 disease C0752166 Biomarker 0.33 orphanet , disgenet
Syndrome, Bardet-Biedl ALMS1 disease C0752166 GeneticVariation 0.33 disgenet
Syndrome, Bardet-Biedl ALMS1 disease C0752166 Biomarker 0.33 disgenet
Syndrome, Bardet-Biedl IFT172 disease C0752166 GeneticVariation 0.33 orphanet , disgenet
Syndrome, Bardet-Biedl IFT172 disease C0752166 GermlineCausalMutation 0.33 orphanet , disgenet
Syndrome, Bardet-Biedl NPHP1 disease C0752166 GermlineCausalMutation 0.32 orphanet , disgenet
Syndrome, Bardet-Biedl NPHP1 disease C0752166 GeneticVariation 0.32 orphanet , disgenet
Syndrome, Bardet-Biedl C8orf37 disease C0752166 GermlineCausalMutation 0.32 disgenet
Syndrome, Bardet-Biedl C8orf37 disease C0752166 Biomarker 0.32 disgenet
Syndrome, Bardet-Biedl TMEM67 disease C0752166 GeneticVariation 0.31 disgenet
Syndrome, Bardet-Biedl TMEM67 disease C0752166 Biomarker 0.31 disgenet
Syndrome, Bardet-Biedl BBS7 disease C0752166 CausalMutation 0.2 orphanet , disgenet
Syndrome, Bardet-Biedl BBS7 disease C0752166 Biomarker 0.2 orphanet , disgenet
Syndrome, Bardet-Biedl TBC1D32 disease C0752166 Biomarker 0.2 disgenet
Syndrome, Bardet-Biedl BBS7 disease C0752166 GeneticVariation 0.2 orphanet , disgenet
Syndrome, Bardet-Biedl TRIM32 disease C0752166 GeneticVariation 0.19 orphanet , disgenet
Syndrome, Bardet-Biedl TRIM32 disease C0752166 AlteredExpression 0.19 orphanet , disgenet
Syndrome, Bardet-Biedl TRIM32 disease C0752166 CausalMutation 0.19 orphanet , disgenet
Syndrome, Bardet-Biedl TRIM32 disease C0752166 Biomarker 0.19 orphanet , disgenet
Syndrome, Bardet-Biedl BBS5 disease C0752166 GeneticVariation 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl BBS5 disease C0752166 CausalMutation 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl BBS9 disease C0752166 GeneticVariation 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl BBS9 disease C0752166 CausalMutation 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl BBS5 disease C0752166 Biomarker 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl BBS9 disease C0752166 AlteredExpression 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl BBS12 disease C0752166 Biomarker 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl BBS12 disease C0752166 CausalMutation 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl BBS12 disease C0752166 GeneticVariation 0.18 orphanet , disgenet
Syndrome, Bardet-Biedl CEP19 disease C0752166 CausalMutation 0.1 orphanet , disgenet
Syndrome, Bardet-Biedl ZDHHC24 disease C0752166 CausalMutation 0.1 disgenet
Syndrome, Bardet-Biedl ZDHHC24 disease C0752166 GeneticVariation 0.1 disgenet
Syndrome, Bardet-Biedl ASTN2 disease C0752166 CausalMutation 0.1 disgenet
Syndrome, Bardet-Biedl PIGX disease C0752166 CausalMutation 0.1 disgenet
Syndrome, Bardet-Biedl TRAPPC3 disease C0752166 GeneticVariation 0.1 disgenet
Syndrome, Bardet-Biedl CCDC28B disease C0752166 GeneticVariation 0.03 disgenet
Syndrome, Bardet-Biedl CCDC28B disease C0752166 Biomarker 0.03 disgenet
Syndrome, Bardet-Biedl LEP disease C0752166 Biomarker 0.02 disgenet
Syndrome, Bardet-Biedl FEZ1 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl RIN2 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl MYO7A disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl VEGFA disease C0752166 AlteredExpression 0.01 disgenet
Syndrome, Bardet-Biedl MAGEL2 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl KIFC3 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl CBLL2 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl NDN disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl STOML3 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl GLIS2 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl FEM1B disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl CCT disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl IL18 disease C0752166 AlteredExpression 0.01 disgenet
Syndrome, Bardet-Biedl KIF2A disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl PRKN disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl RHO disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl PCM1 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl SCAPER disease C0752166 GeneticVariation 0.01 orphanet , disgenet
Syndrome, Bardet-Biedl ADIPOQ disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl GFAP disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl MUL1 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl SLX1A-SULT1A3 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl TNFRSF11B disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl INSR disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl PLLP disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl STUB1 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl AZIN1 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl PECAM1 disease C0752166 AlteredExpression 0.01 disgenet
Syndrome, Bardet-Biedl RCVRN disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl NPY2R disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl TRPV1 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl IFT74 disease C0752166 GeneticVariation 0.01 orphanet , disgenet
Syndrome, Bardet-Biedl MARVELD2 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl USP35 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl RAPGEF5 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl WDPCP disease C0752166 Biomarker 0.01 orphanet , disgenet
Syndrome, Bardet-Biedl PEG13 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl PDE6B disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl NMB disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl RAB8A disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl MYO9A disease C0752166 AlteredExpression 0.01 disgenet
Syndrome, Bardet-Biedl INVS disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl CEP131 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl RFX1 disease C0752166 AlteredExpression 0.01 disgenet
Syndrome, Bardet-Biedl STUB1 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl ERG disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl NPY disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl SULT1A3 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl MYO3B disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl RTEL1 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl INPP5E disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl GPT disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl CEP164 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl PYY3 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl IQCB1 disease C0752166 Biomarker 0.01 disgenet
Syndrome, Bardet-Biedl SULT1A4 disease C0752166 GeneticVariation 0.01 disgenet
Syndrome, Bardet-Biedl CFAP418 NA C0752166 NA NA orphanet
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