Table 4.
Top 5 most enriched human diseases in Enrichr analysis based on the OMIM disease database for each set of predicted ALS-linked genes. Overlapping genes are between brackets. Only diseases significant at adjusted p-value < 0.05 are reported.
| Rank | DisGeNet | ALSoD | Manual | ClinVar | Union |
|---|---|---|---|---|---|
| 1 | Parkinson disease (PRKN;NR4A2;PINK1;UCHL1;TBP;HTRA2;MAPT;SNCAIP;FBXO7;SNCA) | Parkinson disease (PRKN;NR4A2;PINK1;UCHL1;TBP;HTRA2;DBH;SNCAIP;FBXO7;SNCA) | Amyotrophic lateral sclerosis (ALS2;CHMP2B;TRPM7;PRPH) | Cardiomyopathy(DSP;MYBPC3;CAV3;ACTN2;TPM1;LDB3;ABCC9;PSEN1;TAZ;TTN;PLN;SGCD;DES;ACTC1;MYL2;LMNA;MYL3;TCAP;TNNI3;DMD;SCN5A;MYH6;VCL;MYH7) | Cardiomyopathy (DSP;MYBPC3;CAV3;ACTN2;TPM1;PSEN2;LDB3;ABCC9;TAZ;TTN;PLN;SGCD;DES;ACTC1;MYL2;LMNA;MYL3;TCAP;TNNI3;DMD;SCN5A;MYH6;VCL;MYH7) |
| 2 | Dystonia (SGCE;GCH1;PRKRA;ATP1A3;DRD2;THAP1;TAF1) | Alzheimer′s disease (APP;NOS3;PSEN2;APBB2;BLMH;A2M;MPO;SORL1) | Frontotemporal dementia (CHMP2B;TRPM7;TNF) | Cardiomyopathy, dilated (DSP;MYBPC3;ACTN2;TPM1;LDB3;ABCC9;PSEN1;TAZ;TTN;PLN;SGCD;DES;ACTC1;LMNA;TCAP;TNNI3;DMD;SCN5A;VCL;MYH7) | Cardiomyopathy, dilated (DSP;MYBPC3;ACTN2;TPM1;PSEN2;LDB3;ABCC9;TAZ;TTN;PLN;SGCD;DES;ACTC1;LMNA;TCAP;TNNI3;DMD;SCN5A;VCL;MYH7) |
| 3 | Diabetes (IL6;EPO;IRS1;HFE;INSR;IRS2;PPARG;SLC2A4;GCK) | Dystonia (SGCE;GCH1;PRKRA;ATP1A3;DRD2;THAP1;TAF1) | Charcot-Marie-Tooth disease (PRPS1;MTMR2;EGR2;HSPB8;LITAF;NDRG1;DNM2;MPZ;LMNA;MFN2;NEFL;KIF1B;GARS;SBF2) | Ataxia (PRKCG;TBP;ABCB7;FMR1;KCNA1;ITPR1;SLC1A3;CP;APTX;SYNE1;TTBK2;ATCAY;CACNB4;ATXN1;ATXN7;PPP2R2B;TDP1;SACS;ATXN10;FXN;POLG;SPTBN2) | |
| 4 | Diabetes mellitus, type 2 (IRS1;INSR;IRS2;PPARG;SLC2A4;GCK) | Schizophrenia (CHRNA7;DTNBP1;AKT1;MTHFR;NRG1;HTR2A;COMT) | Neuropathy (EGR2;CTDP1;HSPB8;BSCL2;SPTLC1;GAN;WNK1;MPZ;TDP1;PRX;MFN2;GARS;CCT5;POLG) | Charcot-Marie-Tooth disease (PRPS1;MTMR2;EGR2;HSPB8;LITAF;NDRG1;DNM2;MPZ;LMNA;MFN2;NEFL;KIF1B;SBF2) | |
| 5 | Alzheimer disease (NOS3;HFE;PSEN1;MPO) | Colorectal cancer (PLA2G2A;AKT1;BAX;CTNNB1;TLR4;TP53) | Cardiomyopathy, hypertrophic (MYBPC3;ACTC1;CAV3;MYL2;TPM1;MYL3;TNNI3;MYH6;TTN;MYH7) | Cardiomyopathy, hypertrophic (MYBPC3;ACTC1;CAV3;MYL2;TPM1;MYL3;TNNI3;MYH6;TTN;MYH7) |