AD-Pathological Network with Rich Literature Evidence

HPO Query



Mutation filter        

Brief description

The query term(s) is/are Neurofibrillary tangles. The results of the AD-PNRLE are as follows:

1. A total of 37 literature are retrieved related to the query gene(s), with an average of 37.

2. There are 17 mutations directly associated with the query gene(s). Among them, mutation "LOC105373605:rs6733839" is related to the most GO terms, with 0.

3. There are 0 biological process terms, 1 phenotypic symptom terms, and 0 diseases associated with the query gene(s). The most frequently reported biological process term is "None" (0 times), the phenotypic symptom term is "Neurofibrillary tangles" (2 times), and the disease is "None" (0 times).

4. There are 8 genes linked to the query gene(s) by mutations and descriptors.

Entrez Symbol Mutation Relation Term ID Term Name Evidence Table
4137 MAPT rs63751273 Positive regulation HP:0002185 Neurofibrillary tangles Jump
23607 CD2AP rs10948363 Association HP:0002185 Neurofibrillary tangles Jump
105373605 LOC105373605 rs6733839 Association HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs10445337 Association HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs63750424 Positive regulation HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs63751273 Association HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs374878846 Negative regulation HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs63750424 Association HP:0002185 Neurofibrillary tangles Jump
81559 TRIM11 rs564309 Association HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs63751273 Positive regulation HP:0002185 MAPT:Neurofibrillary tangles Jump
105375056 LOC105375056 rs7759295 Positive regulation HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs553179073 Negative regulation HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs11872014 Negative regulation HP:0002185 Neurofibrillary tangles Jump
2 A2M rs3832852 Association HP:0002185 Neurofibrillary tangles Jump
54210 TREM1 rs6910730 Association HP:0002185 Neurofibrillary tangles Jump
105373605 LOC105373605 rs6733839 Positive regulation HP:0002185 Neurofibrillary tangles Jump
81559 TRIM11 rs564309 Positive regulation HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs143624519 Positive regulation HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs63750570 Association HP:0002185 Neurofibrillary tangles Jump
105375056 LOC105375056 rs7759295C Positive regulation HP:0002185 Neurofibrillary tangles Jump
4137 MAPT rs63751273 Negative regulation HP:0002185 Neurofibrillary tangles Jump
643680 MS4A4E rs670139 Positive regulation HP:0002185 Neurofibrillary tangles Jump
23286 WWC1 rs17070145 Association HP:0002185 Neurofibrillary tangles Jump

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