# Phenotype terminology mapping from Genebass to OpenTargets

**URL:** <https://community.opentargets.org/t/phenotype-terminology-mapping-from-genebass-to-opentargets/1312>\
**Category:** General\
**Tags:** ot-platform\
**Created:** [12 December 2023 17:06 UTC](https://community.opentargets.org/t/phenotype-terminology-mapping-from-genebass-to-opentargets/1312 "2023-12-12T17:06:22Z")\
**Posts on this page:** 2\
**Page:** 1

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**Author:** ![Shicheng\_Guo](https://dub1.discourse-cdn.com/flex017/user_avatar/community.opentargets.org/shicheng_guo/32/217_2.png) [@Shicheng\_Guo](https://community.opentargets.org/u/Shicheng_Guo)\
**Post date:** [12 December 2023 17:06 UTC](https://community.opentargets.org/t/phenotype-terminology-mapping-from-genebass-to-opentargets/1312/1 "2023-12-12T17:06:22Z")

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Dear Team,

I find [HECW2](https://app.genebass.org/gene/ENSG00000138411) has a significant association in burden test mode, however, this entry is not showed in opentargets. I guess it is because the phenotype is not mapping to human disease, correct?

 ![image](https://europe1.discourse-cdn.com/flex017/uploads/opentargets/original/1X/801c97522b2cbea6a1451cc23b228b3df651c211.png)

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**Author:** ![irene](https://dub1.discourse-cdn.com/flex017/user_avatar/community.opentargets.org/irene/32/50_2.png) [@irene](https://community.opentargets.org/u/irene)\
**Post date:** [13 December 2023 09:18 UTC](https://community.opentargets.org/t/phenotype-terminology-mapping-from-genebass-to-opentargets/1312/2 "2023-12-13T09:18:07Z")

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Hi @Shicheng_Guo,

The Platform does not display this association because it does not meet the statistical significance threshold of 6.7 × 10-7 established by Genebass in [their publication](https://www.sciencedirect.com/science/article/pii/S2666979X22001100?via%3Dihub).

In our gene burden tests, which focus on collapsing rare variants, the thresholds for significance are typically stricter than those in standard GWAS because of the variants lower frequency.

In general, I don’t think we currently have an universally accepted standard for what constitutes significance. As a result, you’ll see that different resources set their own thresholds. You can learn more about how we process each of them in our dedicated post: [How the Open Targets Platform Integrates Gene Burden Analyses](https://blog.opentargets.org/how-open-targets-integrates-gene-burden/)

Best,  
Irene