Browse records
Explore the current CoGenEx-PM3 release as a database resource. Browse pages provide bounded summaries, not unrestricted bulk listings.
PMID × variant records102309
Unique genes1281
Unique variants48079
PM3-positive records2862
Browse by gene
| Gene | Variants | PMIDs | Records | PM3-positive | Supplement-derived |
|---|---|---|---|---|---|
| RYR1 | 722 | 394 | 1546 | 128 | 549 |
| GAA | 264 | 426 | 1410 | 71 | 570 |
| USH2A | 290 | 223 | 596 | 51 | 229 |
| CDH23 | 335 | 265 | 607 | 48 | 241 |
| PAH | 94 | 190 | 340 | 47 | 89 |
| ATM | 1716 | 1574 | 4888 | 44 | 2641 |
| PKD1 | 216 | 150 | 370 | 40 | 138 |
| LZTR1 | 194 | 132 | 431 | 39 | 191 |
| CYP1B1 | 16 | 91 | 121 | 38 | 21 |
| ACADVL | 89 | 160 | 220 | 36 | 63 |
| TTN | 1338 | 388 | 2599 | 33 | 1216 |
| ABCA4 | 91 | 118 | 203 | 29 | 94 |
| IDUA | 65 | 71 | 157 | 29 | 26 |
| ATP7B | 186 | 200 | 478 | 26 | 167 |
| PLEC | 1009 | 287 | 2124 | 25 | 1437 |
| PRF1 | 41 | 63 | 109 | 24 | 37 |
| MYO7A | 163 | 149 | 302 | 23 | 133 |
| CAPN3 | 96 | 86 | 159 | 21 | 80 |
| DYSF | 164 | 144 | 301 | 20 | 127 |
| EYS | 79 | 75 | 119 | 20 | 56 |
| PKHD1 | 159 | 131 | 297 | 17 | 135 |
| LOXHD1 | 106 | 107 | 206 | 17 | 89 |
| GJB2 | 28 | 92 | 120 | 16 | 25 |
| GNE | 46 | 74 | 100 | 16 | 33 |
| MFSD8 | 37 | 39 | 78 | 16 | 40 |
| BRCA1 | 586 | 860 | 2574 | 15 | 1217 |
| PLA2G6 | 67 | 100 | 181 | 15 | 88 |
| SLC26A4 | 34 | 71 | 92 | 15 | 38 |
| GALNS | 31 | 47 | 66 | 15 | 22 |
| SDHA | 256 | 218 | 524 | 14 | 248 |
| GBA1 | 19 | 82 | 124 | 14 | 31 |
| ABCB4 | 38 | 50 | 72 | 14 | 28 |
| DARS2 | 14 | 21 | 30 | 14 | 3 |
| LRP5 | 189 | 149 | 374 | 13 | 181 |
| UNC13D | 86 | 81 | 152 | 13 | 61 |
| GUSB | 24 | 43 | 53 | 13 | 16 |
| LAMA2 | 162 | 119 | 312 | 12 | 142 |
| SZT2 | 165 | 93 | 296 | 12 | 135 |
| LRP4 | 114 | 89 | 227 | 12 | 99 |
| CEP290 | 133 | 108 | 200 | 12 | 74 |
| IFT140 | 102 | 78 | 168 | 12 | 97 |
| MYO15A | 80 | 69 | 155 | 12 | 78 |
| TRIM32 | 61 | 63 | 107 | 12 | 46 |
| COQ4 | 15 | 30 | 40 | 12 | 19 |
| MSH6 | 919 | 704 | 1961 | 11 | 936 |
| POLR3A | 40 | 51 | 69 | 11 | 35 |
| GTPBP3 | 19 | 22 | 36 | 11 | 10 |
| ACAD8 | 16 | 21 | 30 | 11 | 13 |
| PMS2 | 674 | 593 | 1787 | 10 | 939 |
| WFS1 | 288 | 193 | 589 | 10 | 156 |
Browse by evidence status
Browse by journal
Cell6799
PloS one6122
Cell reports5239
Genome medicine4883
Oncotarget3377
Nature medicine2545
Nature methods1822
PLoS genetics1451
Nature genetics1076