Browse records
Explore the current CoGenEx-PM3 release as a database resource. Browse pages provide bounded summaries, not unrestricted bulk listings.
PMID × variant records103889
Unique genes1281
Unique variants48289
PM3-positive records3842
Browse by gene
| Gene | Variants | PMIDs | Records | PM3-positive | Supplement-derived |
|---|---|---|---|---|---|
| RYR1 | 729 | 428 | 1598 | 160 | 549 |
| GAA | 266 | 453 | 1445 | 102 | 570 |
| ATM | 1717 | 1603 | 4921 | 99 | 2641 |
| PAH | 99 | 253 | 414 | 69 | 89 |
| TTN | 1339 | 394 | 2605 | 64 | 1216 |
| USH2A | 291 | 224 | 597 | 56 | 229 |
| CDH23 | 336 | 266 | 608 | 55 | 241 |
| CYP1B1 | 18 | 122 | 155 | 52 | 21 |
| ACADVL | 91 | 163 | 226 | 47 | 63 |
| LZTR1 | 194 | 133 | 433 | 45 | 191 |
| PKD1 | 218 | 155 | 375 | 41 | 138 |
| ATP7B | 189 | 223 | 506 | 39 | 167 |
| PLEC | 1011 | 290 | 2127 | 38 | 1437 |
| MUTYH | 157 | 645 | 887 | 36 | 291 |
| ABCA4 | 91 | 125 | 211 | 33 | 94 |
| IDUA | 65 | 72 | 159 | 33 | 26 |
| BRCA1 | 587 | 889 | 2611 | 31 | 1217 |
| MSH6 | 920 | 714 | 1973 | 30 | 936 |
| PMS2 | 674 | 601 | 1797 | 28 | 939 |
| MYO7A | 163 | 149 | 302 | 28 | 133 |
| PRF1 | 43 | 67 | 113 | 27 | 37 |
| DYSF | 165 | 146 | 303 | 23 | 127 |
| CAPN3 | 97 | 90 | 163 | 23 | 80 |
| SDHA | 256 | 219 | 525 | 21 | 248 |
| PLA2G6 | 67 | 112 | 194 | 21 | 88 |
| GJB2 | 32 | 121 | 151 | 21 | 25 |
| LOXHD1 | 107 | 109 | 208 | 20 | 89 |
| CFH | 88 | 101 | 187 | 20 | 101 |
| EYS | 79 | 75 | 119 | 20 | 56 |
| KCNQ1 | 124 | 240 | 430 | 18 | 118 |
| PKHD1 | 160 | 133 | 300 | 18 | 135 |
| GNE | 46 | 79 | 105 | 18 | 33 |
| BRCA2 | 1026 | 729 | 3690 | 17 | 1923 |
| SLC26A4 | 35 | 75 | 96 | 17 | 38 |
| GALNS | 32 | 54 | 73 | 17 | 22 |
| WFS1 | 291 | 208 | 605 | 16 | 156 |
| LRP5 | 191 | 160 | 388 | 16 | 181 |
| GBA1 | 19 | 84 | 127 | 16 | 31 |
| MFSD8 | 38 | 45 | 84 | 16 | 40 |
| CEP290 | 133 | 108 | 200 | 15 | 74 |
| UNC13D | 86 | 81 | 152 | 15 | 61 |
| TRIM32 | 61 | 63 | 107 | 15 | 46 |
| ABCB4 | 40 | 55 | 78 | 15 | 28 |
| PALB2 | 780 | 320 | 1542 | 14 | 977 |
| MSH2 | 359 | 408 | 893 | 14 | 414 |
| LYST | 162 | 105 | 314 | 14 | 154 |
| SLC25A13 | 30 | 78 | 111 | 14 | 33 |
| GUSB | 24 | 45 | 57 | 14 | 16 |
| GTPBP3 | 19 | 22 | 36 | 14 | 10 |
| DARS2 | 14 | 21 | 30 | 14 | 3 |
Browse by evidence status
Browse by journal
Cell6799
PloS one6122
Cell reports5240
Genome medicine4883
Oncotarget3377
Nature medicine2545
Nature methods1822
PLoS genetics1451
Nature genetics1078