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. The curated content indicated as Source: "ClinGen" was obtained from the Clinical Genome Resource Gene-Disease Validity classifications.
Learn more about the criTRia locus-disease curation framework:
criTRia SOPClassifications
Classification | Score | Description |
|---|---|---|
12 to 18 | There is definitive evidence for this locus-disease relationship | |
12 to 18 | There is strong evidence for this locus-disease relationship | |
7 to 11 | There is moderate evidence for this locus-disease relationship | |
0.1 to 6 | There is limited evidence for this locus-disease relationship | |
any | Evidence disputes this locus-disease relationship | |
any | Evidence refutes this locus-disease relationship | |
0 | No known evidence for this locus-disease relationship | |
This locus-disease relationship has been proposed but has not yet been evaluated |
Locus-disease curations
Gene | Gene | Disease | Inheritance | Score | Classification | Date | Source | |
|---|---|---|---|---|---|---|---|---|
ABCD3 | ABCD3 | OPDM5 | AD | 10 | Apr 29, 2026 | criTRia | ||
AFF2 | AFF2 | FRAXE | XLR | 14.5 | Aug 11, 2025 | ClinGen | ||
AFF3 | AFF3 | FRA2A | AD | 12 | Aug 12, 2025 | criTRia | ||
AR | AR | SBMA | AR | 13.5 | Aug 8, 2023 | ClinGen | ||
ARX | ARX | EIEE1 | XR | 16.5 | Aug 18, 2025 | criTRia | ||
ARX | ARX | PRTS | XR | 12 | Aug 18, 2025 | criTRia | ||
ATN1 | ATN1 | DRPLA | AD | 12.5 | May 22, 2026 | criTRia | ||
ATXN1 | ATXN1 | SCA1 | AD | 14.5 | Aug 12, 2025 | criTRia | ||
ATXN2 | ATXN2 | SCA2 | AD | 18 | Feb 13, 2024 | ClinGen | ||
ATXN3 | ATXN3 | SCA3 | AD | 17.5 | Aug 12, 2025 | criTRia | ||
ATXN7 | ATXN7 | SCA7 | AD | 18 | Aug 12, 2025 | criTRia | ||
ATXN8OS | ATXN8OS | SCA8 | AD | 11.5 | Aug 12, 2025 | criTRia | ||
ATXN10 | ATXN10 | SCA10 | AD | 14 | Aug 12, 2025 | criTRia | ||
BEAN1 | BEAN1 | SCA31 | AD | 12 | Aug 11, 2025 | criTRia | ||
C9orf72 | C9orf72 | FTDALS1 | AD | 18 | Sep 21, 2021 | ClinGen | ||
CACNA1A | CACNA1A | SCA6 | AD | 18 | Aug 12, 2025 | criTRia | ||
CBL | CBL | JBS | AD | 14.5 | Aug 12, 2025 | criTRia | ||
CNBP | CNBP | DM2 | AD | 14.5 | Jul 21, 2025 | criTRia | ||
COMP | COMP | EDM1-PSACH | AD | 16.7 | Feb 28, 2025 | ClinGen | ||
CSNK1E | CSNK1E | EPM | AR | 4.5 | Mar 9, 2025 | criTRia | ||
CSTB | CSTB | EPM1 | AR | 15 | Jun 16, 2020 | ClinGen | ||
DAB1 | DAB1 | SCA37 | AD | 13 | Aug 18, 2025 | criTRia | ||
DIP2B | DIP2B | FRA12A | AD | 10.5 | May 20, 2026 | criTRia | ||
DMD | DMD | DMD | XR | 0 | May 14, 2025 | criTRia | ||
DMPK | DMPK | DM1 | AD | 18 | Jul 21, 2025 | criTRia | ||
EIF4A3 | EIF4A3 | RCPS | AR | 15 | Jun 2, 2025 | criTRia | ||
FGF14 | FGF14 | SCA27B | AR | 13.5 | Jun 4, 2025 | criTRia | ||
FMR1 | FMR1 | FXS | XD | 14 | Aug 18, 2025 | criTRia | ||
FMR1 | FMR1 | FXTAS,POF1 | XD | 13.5 | Aug 18, 2025 | criTRia | ||
FOXL2 | FOXL2 | BPES | AD/AR | 14.5 | Jun 4, 2025 | criTRia | ||
FXN | FXN | FRDA | AR | 18 | Dec 22, 2017 | ClinGen | ||
GIPC1 | GIPC1 | OPDM2 | AD | 15.5 | Jun 4, 2025 | criTRia | ||
GLS | GLS | GDPAG | AR | 11.5 | Jul 9, 2021 | ClinGen | ||
HOXA13 | HOXA13 | HFG-I | AD | 3.5 | Aug 18, 2025 | criTRia | ||
HOXA13 | HOXA13 | HFG-II | AD | 5.5 | Aug 18, 2025 | criTRia | ||
HOXA13 | HOXA13 | HFG-III | AD | 4.5 | Aug 18, 2025 | criTRia | ||
HOXD13 | HOXD13 | SD5 | AD | 12.5 | Aug 18, 2025 | criTRia | ||
HTT | HTT | HD | AD | 17.5 | Nov 8, 2021 | ClinGen | ||
JPH3 | JPH3 | HDL2 | AD | 15 | Jun 4, 2025 | criTRia | ||
LRP12 | LRP12 | OPDM1 | AD | 12 | Aug 18, 2025 | criTRia | ||
MARCHF6 | MARCHF6 | FAME3 | AD | 11.5 | Aug 12, 2025 | criTRia | ||
MIR7-2 | MIR7-2 | CHNG3 | AD | 13.5 | Aug 18, 2025 | criTRia | ||
MUC1 | MUC1 | ADTKD | AD | 16 | Jan 13, 2021 | ClinGen | ||
NAXE | NAXE | NME | AR | 5 | Aug 12, 2025 | criTRia | ||
NIPA | NIPA | ALS1 | AD | 3 | Jun 6, 2025 | criTRia | ||
NOP56 | NOP56 | SCA36 | AD | 13 | Aug 11, 2025 | criTRia | ||
NOTCH2NLC | NOTCH2NLC | NIID | AD | 14 | Aug 14, 2025 | criTRia | ||
NUTM2B-AS1 | NUTM2B-AS1 | OPML1 | AD | 9.5 | Aug 18, 2025 | criTRia | ||
PABPN1 | PABPN1 | OPMD | AD/AR | 12.5 | Aug 14, 2025 | criTRia | ||
PHOX2B | PHOX2B | CCHS | AD | 17 | Dec 30, 2022 | ClinGen | ||
PLIN4 | PLIN4 | MRUPAV | AD | 11 | Aug 11, 2025 | criTRia | ||
POLG | POLG | CPEO | 7 | Aug 18, 2025 | criTRia | |||
PPP2R2B | PPP2R2B | SCA12 | AD | 8.5 | Aug 11, 2025 | criTRia | ||
PRDM12 | PRDM12 | HSAN-VIII | AR | 11 | Aug 14, 2025 | criTRia | ||
PRNP | PRNP | CJD | AD | 8.5 | Aug 14, 2025 | criTRia | ||
RAI1 | RAI1 | FAME8 | AD | 1.5 | Aug 14, 2025 | criTRia | ||
RAPGEF2 | RAPGEF2 | FAME7 | AD | 3 | Aug 14, 2025 | criTRia | ||
RFC1 | RFC1 | CANVAS | AR | 14 | Oct 9, 2024 | ClinGen | ||
RILPL1 | RILPL1 | OPDM4 | AD | 10 | Aug 14, 2025 | criTRia | ||
RUNX2 | RUNX2 | CCD | AD | 12 | Aug 14, 2025 | criTRia | ||
SAMD12 | SAMD12 | FAME1 | AD | 11.5 | Aug 14, 2025 | criTRia | ||
SOX3 | SOX3 | XLID, PHPX | XR | 5 | May 14, 2026 | criTRia | ||
STARD7 | STARD7 | FAME2 | AD | 12 | Aug 14, 2025 | criTRia | ||
TAF1 | TAF1 | XDP | XR | 13.5 | Aug 14, 2025 | criTRia | ||
TBP | TBP | SCA17 | AD | 13.5 | Aug 18, 2025 | criTRia | ||
TBX1 | TBX1 | TOF | AD | 2 | Aug 18, 2025 | criTRia | ||
TCF4 | TCF4 | FECD3 | AD | 17.5 | Aug 18, 2025 | criTRia | ||
THAP11 | THAP11 | SCA51 | AD | 13 | Aug 18, 2025 | criTRia | ||
TNRC6A | TNRC6A | FAME6 | AD | 2.7 | Aug 14, 2025 | criTRia | ||
TYMS | TYMS | CPUM | AR | 1.5 | Aug 14, 2025 | criTRia | ||
VWA1 | VWA1 | HMNR7 | AR | 12.5 | Aug 14, 2025 | criTRia | ||
XYLT1 | XYLT1 | DBQD2 | AR | 8.5 | Aug 18, 2025 | criTRia | ||
YEATS2 | YEATS2 | FAME4 | AD | 6 | Aug 18, 2025 | criTRia | ||
ZFHX3 | ZFHX3 | SCA4 | AD | 13.5 | Aug 18, 2025 | criTRia | ||
ZIC2 | ZIC2 | HPE5 | AD | 12.5 | May 24, 2026 | criTRia | ||
ZIC3 | ZIC3 | VACTERLX | XR | 3.5 | Aug 18, 2025 | criTRia | ||
ZNF713 | ZNF713 | FRA7A | AD | 2.5 | Aug 18, 2025 | criTRia |