Table 4.
Significant GREX-Phecode Associations
| Gene | Phecode Description | Tissue | Full Analysis | Correcting for Pain Scores | ||||
|---|---|---|---|---|---|---|---|---|
| z Score | p FDR | p Raw | z Score | p FDR | p Raw | |||
| DCAKD | Cardiac dysrhythmias | Caudate, basal ganglia | −4.98 | .0084 | 6.18 × 10−7 | −5.52 | .0046 | 3.47 × 10−8 |
| ECM1 | Dysmetabolic syndrome X | Cerebellar hemisphere | 4.58 | .0063 | 6.39 × 10−7 | – | – | – |
| Cerebellum | −4.99 | .0228 | 4.61 ×10−6 | – | – | – | ||
| Nucleus accumbens, basal ganglia | 5.33 | .026 | 7.89 ×10−6 | – | – | – | ||
| ERICH2 | Disc disorders/dorsopathies | Amygdala | 4.7 | .0312 | 8.4 × 10−6 | −4.42 | .033 | 9.83 × 10−6 |
| ILRUN (C6orf106) | Primary thrombocytopenia | Amygdala | −4.47 | .0176 | 1.98 ×10−6 | – | – | – |
| Hypothalamus | 4.81 | .0176 | 2.59 × 10−6 | – | – | – | ||
| Nucleus accumbens, basal ganglia | 4.46 | .024 | 5.3 × 10−6 | – | – | – | ||
| Cortex | −4.45 | .0415 | 1.22 × 10−5 | – | – | – | ||
| MON1B | Anemias | Spinal cord cervical C1 | −4.58 | .014 | 1.14 × 10−6 | – | – | – |
| Amygdala | 4.21 | .0293 | 4.74 × 10−6 | – | – | – | ||
| PACSIN3 | Bullous dermatoses | Nucleus accumbens, basal ganglia | 4.87 | .0076 | 1.54 × 10−6 | – | – | – |
| RAD51 | Disturbances of sulfur-bearing amino acid metabolism | Substantia nigra | 4.76 | .0307 | 1.24 ×10−5 | – | – | – |
| SCAI | Inflammatory and toxic neuropathy | Cortex | 4.55 | .0412 | 8.34 × 10−6 | – | – | – |
| SLC38A3 | Joint/ligament sprain | Caudate, basal ganglia | 4.37 | .0002 | 9.62 × 10−8 | 6.00 | 4.34 × 10−06 | 1.92 × 10−9 |
| Neurological disorders | Caudate, basal ganglia | 4.37 | .0309 | 2.5 × 10−5 | – | – | – | |
| ZNF197 | Hand/finger injuries and lacerations | Substantia nigra | – | – | – | 4.45 | .048 | 8.45 × 10−6 |
| ENSG00000278730 (Novel Transcript, lncRNA, a.k.a. RP11–147L13.11) | Spondylosis with myelopathy | Anterior cingulate cortex, BA 24 | – | – | – | 4.93 | .0046 | 8.21 × 10−7 |
| Cerebellum | – | – | – | 4.59 | .017 | 4.41 × 10−6 | ||
| Cortex | – | – | – | 5.05 | .0046 | 4.46 × 10−7 | ||
| Hypothalamus | – | – | – | 4.37 | .035 | 1.25 × 10−5 | ||
FDR correction carried out within gene; z score presents PheWAS z score value; tissue represents GREX tissue; pFDR presents GREX-phecode phenome-wide association study p value (FDR corrected); and pRaw presents uncorrected p value.
a.k.a., also known as; FDR, false discovery rate; GREX, genetically regulated gene expression; lncRNA, long noncoding RNA.