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The 25 genes and/or loci, which have been studied most in Hirschsprung’s disease (entries according to PubMed/MEDLINE).
| Gene/Locus | PubMed/MEDLINE Entries |
|---|---|
| RET | 597 |
| EDNRB | 236 |
| GDNF | 172 |
| SOX10 | 144 |
| PHOX2B | 98 |
| EDN3 | 87 |
| ZFHX1B | 43 |
| RMRP | 37 |
| NRG1 | 29 |
| GFRA1 | 26 |
| L1CAM | 25 |
| SHH | 16 |
| ECE1 | 15 |
| NRTN | 10 |
| KIAA1279 | 9 |
| SEMA3D | 6 |
| SEMA3C | 5 |
| Gli1 | 5 |
| 9q31 | 4 |
| DHCR7 | 3 |
| 3p21 | 3 |
| PSPN | 2 |
| NTF3 | 2 |
| NTRK | 2 |
| 19q12 | 2 |
