Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Deficiencies, Protein CAT disease C0033626 Biomarker 0.3 disgenet
Deficiencies, Protein SOD1 disease C0033626 Therapeutic 0.3 disgenet
Deficiencies, Protein GSR disease C0033626 Biomarker 0.3 disgenet
Deficiencies, Protein INSR disease C0033626 Therapeutic 0.2 disgenet
Deficiencies, Protein CYTB disease C0033626 Biomarker 0.2 disgenet
Deficiencies, Protein SMN1 disease C0033626 Biomarker 0.1 disgenet
Deficiencies, Protein SMN2 disease C0033626 Biomarker 0.1 disgenet
Deficiencies, Protein SMN2 disease C0033626 AlteredExpression 0.1 disgenet
Deficiencies, Protein SMN1 disease C0033626 GeneticVariation 0.1 disgenet
Deficiencies, Protein MRC1 disease C0033626 GeneticVariation 0.1 disgenet
Deficiencies, Protein STMN1 disease C0033626 Biomarker 0.1 disgenet
Deficiencies, Protein STMN1 disease C0033626 GeneticVariation 0.1 disgenet
Deficiencies, Protein SNURF disease C0033626 GeneticVariation 0.1 disgenet
Deficiencies, Protein MRC1 disease C0033626 Biomarker 0.1 disgenet
Deficiencies, Protein SNURF disease C0033626 Biomarker 0.1 disgenet
Deficiencies, Protein SNRPN disease C0033626 GeneticVariation 0.1 disgenet
Deficiencies, Protein SNRPN disease C0033626 Biomarker 0.1 disgenet
Deficiencies, Protein TP53 disease C0033626 AlteredExpression 0.04 disgenet
Deficiencies, Protein CAPN3 disease C0033626 GeneticVariation 0.04 disgenet
Deficiencies, Protein TP53 disease C0033626 Biomarker 0.04 disgenet
Deficiencies, Protein CAPN3 disease C0033626 Biomarker 0.04 disgenet
Deficiencies, Protein C4A disease C0033626 GeneticVariation 0.03 disgenet
Deficiencies, Protein LAMP2 disease C0033626 GeneticVariation 0.03 disgenet
Deficiencies, Protein LAMP2 disease C0033626 Biomarker 0.03 disgenet
Deficiencies, Protein MLH1 disease C0033626 PosttranslationalModification 0.03 disgenet
Deficiencies, Protein MLH1 disease C0033626 AlteredExpression 0.03 disgenet
Deficiencies, Protein C4A disease C0033626 Biomarker 0.03 disgenet
Deficiencies, Protein MLH1 disease C0033626 Biomarker 0.03 disgenet
Deficiencies, Protein C4B disease C0033626 GeneticVariation 0.03 disgenet
Deficiencies, Protein C4B disease C0033626 Biomarker 0.03 disgenet
Deficiencies, Protein CDKN2A disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein SGCA disease C0033626 GeneticVariation 0.02 disgenet
Deficiencies, Protein FXN disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein F5 disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein F5 disease C0033626 GeneticVariation 0.02 disgenet
Deficiencies, Protein CDKN2A disease C0033626 GeneticVariation 0.02 disgenet
Deficiencies, Protein ASS1 disease C0033626 PosttranslationalModification 0.02 disgenet
Deficiencies, Protein PIGA disease C0033626 GeneticVariation 0.02 disgenet
Deficiencies, Protein MSH2 disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein C4B_2 disease C0033626 GeneticVariation 0.02 disgenet
Deficiencies, Protein ASS1 disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein APAF1 disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein C4B_2 disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein PTEN disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein WRN disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein ATM disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein ARMS2 disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein DYSF disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein DYSF disease C0033626 GeneticVariation 0.02 disgenet
Deficiencies, Protein ARMS2 disease C0033626 AlteredExpression 0.02 disgenet
Deficiencies, Protein ISCU disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein HADH disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein SGCA disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein MTAP disease C0033626 GeneticVariation 0.02 disgenet
Deficiencies, Protein MTAP disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein LRBA disease C0033626 Biomarker 0.02 disgenet
Deficiencies, Protein ACADVL disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein BLNK disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein TNNI3K disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein AK3 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein PRSS22 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein MTHFR disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein STAT4 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein PLP1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein BRAF disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein PIK3CA disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein TM6SF2 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein TRIM21 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein FAM126A disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein PROS1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein KLF1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein H3P10 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein STAT1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein SCARB1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein GNAS disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein KL disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein CFH disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein CASQ2 disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein ALB disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein PDLIM1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein ARID1A disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein HIP1R disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein ELOVL1 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein ARSA disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein MMUT disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein SP110 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein CD274 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein PTCH1 disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein DOCK8 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein CAV3 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein SMCHD1 disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein FGF10 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein LDLR disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein LOXL1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein OGA disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein COX8A disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein ABCD1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein IFNG disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein CTNNB1 disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein CORIN disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein ZFPM1 disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein ITK disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein FAS disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein VCP disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein CDH1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein NUFIP2 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein VPS45 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein CEBPB disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein CD38 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein AGTR1 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein SATB2 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein LMNA disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein F8 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein SBDS disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein ALDH1A1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein EMD disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein F2 disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein SGCG disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein CEBPA disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein APP disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein TAP2 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein STAT3 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein HAPLN4 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein MYOD1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein ABHD5 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein F9 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein CPD disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein IGHMBP2 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein DMD disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein SLC2A1 disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein INA disease C0033626 PosttranslationalModification 0.01 disgenet
Deficiencies, Protein FAM161A disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein SLC4A1 disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein COLEC11 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein EHHADH disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein GFER disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein POLE disease C0033626 GeneticVariation 0.01 disgenet
Deficiencies, Protein SURF1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein ERN1 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein CYB5R3 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein PMS2 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein FMR1 disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein IL10 disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein REN disease C0033626 AlteredExpression 0.01 disgenet
Deficiencies, Protein TNXB disease C0033626 Biomarker 0.01 disgenet
Deficiencies, Protein GATA1 disease C0033626 Biomarker 0.01 disgenet
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