criTRia
A framework for evaluating the strength of evidence supporting a locus-disease relationship, based on a standardized set of criteria. criTRia is currently in active development and the curations are preliminary, incomplete and subject to change.
Learn more about the criTRia locus-disease curation framework:
SOP PDF Locus-disease curations
| NIPA | ALS1 | AD | 14 | Disputed | Jun 6, 2025 |
| RUNX2 | CCD | AD | 15 | Definitive | Aug 14, 2025 |
| PRNP | CJD | AD | 9 | Moderate | Aug 14, 2025 |
| POLG | CPEO | ? | 4 | Disputed | Aug 18, 2025 |
| XYLT1 | DBQD2 | AR | 8.5 | Moderate | Aug 18, 2025 |
| DMD | DMD | XR | 0 | Refuted | May 14, 2025 |
| ATN1 | DRPLA | AD | 12.5 | Definitive | Aug 12, 2025 |
| ARX | EIEE1 | XR | 16.5 | Definitive | Aug 18, 2025 |
| CSNK1E | EPM | AR | 8 | Moderate | Mar 9, 2025 |
| SAMD12 | FAME1 | AD | 12 | Definitive | Aug 14, 2025 |
| STARD7 | FAME2 | AD | 12 | Moderate | Aug 14, 2025 |
| MARCHF6 | FAME3 | AD | 14.5 | Definitive | Aug 12, 2025 |
| YEATS2 | FAME4 | AD | 6 | Limited | Aug 18, 2025 |
| TNRC 6A | FAME6 | AD | 3 | Limited | Aug 14, 2025 |
| RAPGEF2 | FAME7 | AD | 3 | Limited | Aug 14, 2025 |
| RAI1 | FAME8 | AD | 6 | Limited | Aug 14, 2025 |
| TCF4 | FECD3 | AD | 18 | Definitive | Aug 18, 2025 |
| AFF3 | FRA2A | AD | 12 | Moderate | Aug 12, 2025 |
| ZNF713 | FRA7A | AD | 7 | Moderate | Aug 18, 2025 |
| FMR1 | FXS | XD | 14.5 | Definitive | Aug 18, 2025 |
| FMR1 | FXTAS,POF1 | XD | 14 | Definitive | Aug 18, 2025 |
| HOXA13-1 | HFG | AD | 4.5 | Limited | Aug 18, 2025 |
| HOXA13 | HFG-II | AD | 6 | Limited | Aug 18, 2025 |
| HOXA13 | HFG-III | AD | 6 | Limited | Aug 18, 2025 |
| VWA1 | HMNR7 | AR | 10 | Moderate | Aug 14, 2025 |
| ZIC2 | HPE5 | AD | 11.5 | Moderate | Mar 2, 2026 |
| PRDM12 | HSAN-VIII | AR | 11 | Moderate | Aug 14, 2025 |
| CBL | JBS | AD | 14.5 | Strong | Aug 12, 2025 |
| CHNG3 | MIR7-2 | AD | 13.5 | Strong | Aug 18, 2025 |
| PLIN4 | MRUPAV | AD | 12.5 | Strong | Aug 11, 2025 |
| NOTCH2NLC | NIID | AD | 18 | Definitive | Aug 14, 2025 |
| NAXE | NME | AR | 6 | Limited | Aug 12, 2025 |
| ABCD3 | OPDM | AD | 11 | Moderate | Aug 14, 2025 |
| LRP12 | OPDM1 | AD | 13 | Definitive | Aug 18, 2025 |
| RILPL1 | OPDM4 | AD | 10 | Moderate | Aug 14, 2025 |
| PABPN1 | OPMD | AD/AR | 15 | Definitive | Aug 14, 2025 |
| NUTM2B-AS1 | OPML1 | AD | 10 | Moderate | Aug 18, 2025 |
| ARX | PRTS | XR | 12 | Definitive | Aug 18, 2025 |
| THAP11 | SCA51 | AD | 14 | Strong | Aug 18, 2025 |
| ATXN1 | SCA1 | AD | 16.5 | Definitive | Aug 12, 2025 |
| ATXN10 | SCA10 | AD | 18 | Definitive | Aug 12, 2025 |
| PPP2R2B | SCA12 | AD | 13 | Definitive | Aug 11, 2025 |
| TBP | SCA17 | AD | 18 | Definitive | Aug 18, 2025 |
| ATXN3 | SCA3 | AD | 18 | Definitive | Aug 12, 2025 |
| BEAN1 | SCA31 | AD | 15 | Definitive | Aug 11, 2025 |
| NOP56 | SCA36 | AD | 15 | Definitive | Aug 11, 2025 |
| DAB1 | SCA37 | AD | 17.5 | Definitive | Aug 18, 2025 |
| ZFHX3 | SCA4 | AD | 13.5 | Definitive | Aug 18, 2025 |
| CACNA1A | SCA6 | AD | 18 | Definitive | Aug 12, 2025 |
| ATXN7 | SCA7 | AD | 18 | Definitive | Aug 12, 2025 |
| ATXN8OS | SCA8 | AD | 18 | Definitive | Aug 12, 2025 |
| HOXD13 | SD5 | AD | 14.5 | Definitive | Aug 18, 2025 |
| TBX1 | TOF | AD | 2 | Limited | Aug 18, 2025 |
| ZIC3 | VACTERLX | XR | 3.5 | Limited | Aug 18, 2025 |
| TAF1 | XDP | XR | 13.5 | Definitive | Aug 14, 2025 |
55 rows