Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mohr-Tranebjaerg syndrome TIMM8A disease C0796074 GermlineCausalMutation 0.8 orphanet , disgenet
Mohr-Tranebjaerg syndrome TIMM8A disease C0796074 Biomarker 0.8 orphanet , disgenet
Mohr-Tranebjaerg syndrome TIMM8A disease C0796074 GeneticVariation 0.8 orphanet , disgenet
Mohr-Tranebjaerg syndrome TIMM8A disease C0796074 CausalMutation 0.8 orphanet , disgenet
Mohr-Tranebjaerg syndrome TBP disease C0796074 Biomarker 0.3 disgenet
Mohr-Tranebjaerg syndrome MLH1 disease C0796074 GeneticVariation 0.1 disgenet
Mohr-Tranebjaerg syndrome TMEM67 disease C0796074 GeneticVariation 0.1 disgenet
Mohr-Tranebjaerg syndrome LRRCC1 disease C0796074 GeneticVariation 0.1 disgenet
Mohr-Tranebjaerg syndrome MLH1 disease C0796074 AlteredExpression 0.1 disgenet
Mohr-Tranebjaerg syndrome CEP290 disease C0796074 CausalMutation 0.1 disgenet
Mohr-Tranebjaerg syndrome MSH2 disease C0796074 AlteredExpression 0.1 disgenet
Mohr-Tranebjaerg syndrome TMEM231 disease C0796074 CausalMutation 0.1 disgenet
Mohr-Tranebjaerg syndrome MSH2 disease C0796074 GeneticVariation 0.1 disgenet
Mohr-Tranebjaerg syndrome MLH1 disease C0796074 Biomarker 0.1 disgenet
Mohr-Tranebjaerg syndrome MRC1 disease C0796074 Biomarker 0.1 disgenet
Mohr-Tranebjaerg syndrome MRC1 disease C0796074 GeneticVariation 0.1 disgenet
Mohr-Tranebjaerg syndrome KIAA0586 disease C0796074 CausalMutation 0.1 disgenet
Mohr-Tranebjaerg syndrome MSH2 disease C0796074 Biomarker 0.1 disgenet
Mohr-Tranebjaerg syndrome MLRL disease C0796074 Biomarker 0.06 disgenet
Mohr-Tranebjaerg syndrome MLRL disease C0796074 GeneticVariation 0.06 disgenet
Mohr-Tranebjaerg syndrome MSH6 disease C0796074 GeneticVariation 0.05 disgenet
Mohr-Tranebjaerg syndrome MSH6 disease C0796074 Biomarker 0.05 disgenet
Mohr-Tranebjaerg syndrome ACTB disease C0796074 GeneticVariation 0.02 orphanet , disgenet
Mohr-Tranebjaerg syndrome MPRIP disease C0796074 AlteredExpression 0.02 disgenet
Mohr-Tranebjaerg syndrome MIR34A disease C0796074 Biomarker 0.02 disgenet
Mohr-Tranebjaerg syndrome RIPK3 disease C0796074 AlteredExpression 0.02 disgenet
Mohr-Tranebjaerg syndrome POTEF disease C0796074 GeneticVariation 0.02 disgenet
Mohr-Tranebjaerg syndrome MIR34A disease C0796074 AlteredExpression 0.02 disgenet
Mohr-Tranebjaerg syndrome SLC33A1 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome MAP1LC3B disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome VEGFA disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome AQP1 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome MIR186 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome TP53 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome CD274 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome PRRT2 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome DCAF17 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome MYH1 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome TNF disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome XIST disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome BTK disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome PIK3CG disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome PMS2 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome TPI1 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome ABCG2 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome DNAJC19 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome HEMGN disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome PGR-AS1 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome FITM2 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome HAVCR1 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome CASP8 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome CHEK2 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome COL11A2 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome KRAS disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome AGT disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome CISH disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome CUX1 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome SLC22A3 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome FHIT disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome PIK3CB disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome REN disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome TIMELESS disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome SART3 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome PARP1 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome YTHDF1 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome CHGA disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome SOCS1 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome AKR1B1 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome GYPA disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome WT1 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome PIK3CA disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome ITK disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome TIMM23 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome TIMM8B disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome ATM disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome PEBP4 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome FN1 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome ARHGEF5 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome GCH1 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome AKT1 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome ABCB1 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome CASP3 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome GRM5 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome STK38 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome BRAF disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome NOTCH2 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome BGLAP disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome NOS1 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome AGTR2 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome SDHD disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome FDXR disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome CXCR4 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome MUTYH disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome PIK3CD disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome SMUG1 disease C0796074 GeneticVariation 0.01 disgenet
Mohr-Tranebjaerg syndrome KCNK2 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome TBC1D9 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome AGTR1 disease C0796074 AlteredExpression 0.01 disgenet
Mohr-Tranebjaerg syndrome PANX1 disease C0796074 Biomarker 0.01 disgenet
Mohr-Tranebjaerg syndrome BCL2 disease C0796074 AlteredExpression 0.01 disgenet
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