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 SOP PDF

Locus-disease curations

ABCD3OPDM5AD10ModerateApr 29, 2026criTRia
AFF2FRAXEXLR14.5DefinitiveAug 11, 2025ClinGen
AFF3FRA2AAD12DefinitiveAug 12, 2025criTRia
ARSBMAAR13.5DefinitiveAug 8, 2023ClinGen
ARXEIEE1XR16.5DefinitiveAug 18, 2025criTRia
ARXPRTSXR12DefinitiveAug 18, 2025criTRia
ATN1DRPLAAD12.5DefinitiveMay 22, 2026criTRia
ATXN1SCA1AD14.5DefinitiveAug 12, 2025criTRia
ATXN2SCA2AD18DefinitiveFeb 13, 2024ClinGen
ATXN3SCA3AD17.5DefinitiveAug 12, 2025criTRia
ATXN7SCA7AD18DefinitiveAug 12, 2025criTRia
ATXN8OSSCA8AD11.5DefinitiveAug 12, 2025criTRia
ATXN10SCA10AD14DefinitiveAug 12, 2025criTRia
BEAN1SCA31AD12DefinitiveAug 11, 2025criTRia
C9orf72FTDALS1AD18DefinitiveSep 21, 2021ClinGen
CACNA1ASCA6AD18DefinitiveAug 12, 2025criTRia
CBLJBSAD14.5DefinitiveAug 12, 2025criTRia
CNBPDM2AD14.5DefinitiveJul 21, 2025criTRia
COMPEDM1-PSACHAD16.7DefinitiveFeb 28, 2025ClinGen
CSNK1EEPMAR4.5LimitedMar 9, 2025criTRia
CSTBEPM1AR15DefinitiveJun 16, 2020ClinGen
DAB1SCA37AD13StrongAug 18, 2025criTRia
DIP2BFRA12AAD11ModerateMay 20, 2026criTRia
DMDDMDXR0RefutedMay 14, 2025criTRia
DMPKDM1AD18DefinitiveJul 21, 2025criTRia
EIF4A3RCPSAR15DefinitiveJun 2, 2025criTRia
FGF14SCA27BAR13.5DefinitiveJun 4, 2025criTRia
FMR1FXSXD14DefinitiveAug 18, 2025criTRia
FMR1FXTAS,POF1XD13.5DefinitiveAug 18, 2025criTRia
FOXL2BPESAD/AR14.5DefinitiveJun 4, 2025criTRia
FXNFRDAAR18DefinitiveDec 22, 2017ClinGen
GIPC1OPDM2AD15.5DefinitiveJun 4, 2025criTRia
GLSGDPAGAR11.5DefinitiveJul 9, 2021ClinGen
HOXA13HFG-IAD3.5LimitedAug 18, 2025criTRia
HOXA13HFG-IIAD5.5LimitedAug 18, 2025criTRia
HOXA13HFG-IIIAD4.5LimitedAug 18, 2025criTRia
HOXD13SD5AD12.5DefinitiveAug 18, 2025criTRia
HTTHDAD17.5DefinitiveNov 8, 2021ClinGen
JPH3HDL2AD15DefinitiveJun 4, 2025criTRia
LRP12OPDM1AD12StrongAug 18, 2025criTRia
MARCHF6FAME3AD11.5DefinitiveAug 12, 2025criTRia
MIR7-2CHNG3AD13.5StrongAug 18, 2025criTRia
MUC1ADTKDAD16DefinitiveJan 13, 2021ClinGen
NAXENMEAR5LimitedAug 12, 2025criTRia
NIPAALS1AD3DisputedJun 6, 2025criTRia
NOP56SCA36AD13DefinitiveAug 11, 2025criTRia
NOTCH2NLCNIIDAD14DefinitiveAug 14, 2025criTRia
NUTM2B-AS1OPML1AD9.5ModerateAug 18, 2025criTRia
PABPN1OPMDAD/AR12.5DefinitiveAug 14, 2025criTRia
PHOX2BCCHSAD17DefinitiveDec 30, 2022ClinGen
PLIN4MRUPAVAD11ModerateAug 11, 2025criTRia
POLGCPEO7DisputedAug 18, 2025criTRia
PPP2R2BSCA12AD8.5ModerateAug 11, 2025criTRia
PRDM12HSAN-VIIIAR11ModerateAug 14, 2025criTRia
PRNPCJDAD8.5ModerateAug 14, 2025criTRia
RAI1FAME8AD1.5LimitedAug 14, 2025criTRia
RAPGEF2FAME7AD3LimitedAug 14, 2025criTRia
RFC1CANVASAR14DefinitiveOct 9, 2024ClinGen
RILPL1OPDM4AD10ModerateAug 14, 2025criTRia
RUNX2CCDAD12DefinitiveAug 14, 2025criTRia
SAMD12FAME1AD11.5DefinitiveAug 14, 2025criTRia
SOX3XLID, PHPXXR5LimitedMay 14, 2026criTRia
STARD7FAME2AD12StrongAug 14, 2025criTRia
TAF1XDPXR13.5DefinitiveAug 14, 2025criTRia
TBPSCA17AD13.5DefinitiveAug 18, 2025criTRia
TBX1TOFAD2LimitedAug 18, 2025criTRia
TCF4FECD3AD17.5DefinitiveAug 18, 2025criTRia
THAP11SCA51AD13DefinitiveAug 18, 2025criTRia
TNRC6AFAME6AD2.7LimitedAug 14, 2025criTRia
TYMSCPUMAR1.5LimitedAug 14, 2025criTRia
VWA1HMNR7AR12.5DefinitiveAug 14, 2025criTRia
XYLT1DBQD2AR8.5ModerateAug 18, 2025criTRia
YEATS2FAME4AD6LimitedAug 18, 2025criTRia
ZFHX3SCA4AD13.5DefinitiveAug 18, 2025criTRia
ZIC2HPE5AD12.5DefinitiveMay 24, 2026criTRia
ZIC3VACTERLXXR3.5LimitedAug 18, 2025criTRia
ZNF713FRA7AAD2.5LimitedAug 18, 2025criTRia
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