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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for TERT |
 Gene summary |
| Gene information | Gene symbol | TERT | Gene ID | 7015 |
| Gene name | telomerase reverse transcriptase | |
| Synonyms | CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT | |
| Cytomap | 5p15.33 | |
| Type of gene | protein-coding | |
| Description | telomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2 | |
| Modification date | 20180527 | |
| UniProtAcc | O14746 | |
| Context | PubMed: TERT [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| TERT | GO:0001172 | transcription, RNA-templated | 19701182 |
| TERT | GO:0006278 | RNA-dependent DNA biosynthetic process | 9398860 |
| TERT | GO:0007004 | telomere maintenance via telomerase | 9443919|16043710|17940095|19701182|21531765 |
| TERT | GO:0007005 | mitochondrion organization | 21937513 |
| TERT | GO:0010629 | negative regulation of gene expression | 11927518 |
| TERT | GO:0022616 | DNA strand elongation | 16043710 |
| TERT | GO:0030422 | production of siRNA involved in RNA interference | 19701182 |
| TERT | GO:0031647 | regulation of protein stability | 24415760|26194824 |
| TERT | GO:0032092 | positive regulation of protein binding | 24415760 |
| TERT | GO:0032774 | RNA biosynthetic process | 19701182 |
| TERT | GO:0051000 | positive regulation of nitric-oxide synthase activity | 11927518 |
| TERT | GO:0070200 | establishment of protein localization to telomere | 25589350 |
| TERT | GO:0071897 | DNA biosynthetic process | 9398860|19701182 |
| TERT | GO:1903704 | negative regulation of production of siRNA involved in RNA interference | 19701182 |
| TERT | GO:1904751 | positive regulation of protein localization to nucleolus | 24415760 |
| TERT | GO:2000773 | negative regulation of cellular senescence | 11927518 |
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Exon skipping events across known transcript of Ensembl for TERT from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for TERT |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TERT |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_440787 | 5 | 1253842:1253946:1254482:1254620:1255401:1255526 | 1254482:1254620 | ENSG00000164362.14 | ENST00000460137.2,ENST00000310581.5,ENST00000334602.6,ENST00000296820.5,ENST00000484238.2 |
| exon_skip_440794 | 5 | 1260588:1260715:1264518:1264707:1266578:1266650 | 1264518:1264707 | ENSG00000164362.14 | ENST00000310581.5,ENST00000296820.5 |
| exon_skip_440796 | 5 | 1282543:1282739:1293427:1294781:1294885:1295104 | 1293427:1294781 | ENSG00000164362.14 | ENST00000460137.2,ENST00000508104.2,ENST00000310581.5,ENST00000334602.6,ENST00000296820.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TERT |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_440794 | 5 | 1260588:1260715:1264518:1264707:1266578:1266650 | 1264518:1264707 | ENSG00000164362.14 | ENST00000310581.5,ENST00000296820.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TERT |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000310581 | 1293427 | 1294781 | Frame-shift |
| ENST00000310581 | 1254482 | 1254620 | In-frame |
| ENST00000310581 | 1264518 | 1264707 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000310581 | 1264518 | 1264707 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TERT |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000310581 | 4035 | 1132 | 1264518 | 1264707 | 2713 | 2901 | 885 | 947 |
| ENST00000310581 | 4035 | 1132 | 1254482 | 1254620 | 3216 | 3353 | 1052 | 1098 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000310581 | 4035 | 1132 | 1264518 | 1264707 | 2713 | 2901 | 885 | 947 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O14746 | 885 | 947 | 808 | 1132 | Alternative sequence | ID=VSP_019588;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12869302,ECO:0000303|PubMed:14654914;Dbxref=PMID:12869302,PMID:14654914 |
| O14746 | 885 | 947 | 885 | 947 | Alternative sequence | ID=VSP_021727;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14654914;Dbxref=PMID:14654914 |
| O14746 | 885 | 947 | 1 | 1132 | Chain | ID=PRO_0000054925;Note=Telomerase reverse transcriptase |
| O14746 | 885 | 947 | 605 | 935 | Domain | Note=Reverse transcriptase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00405 |
| O14746 | 885 | 947 | 930 | 934 | Mutagenesis | Note=Completely abolishes telomerase-mediated primer extension and reduced binding to short telomeric primers. Complete loss of catalytic activity but no further loss of binding to telomeric primers%3B when associated with 137-A--A-141. WCGLL->AAAAA;Ontol |
| O14746 | 885 | 947 | 901 | 901 | Natural variant | ID=VAR_062541;Note=In DKCB4%3B severe phenotype overlapping with Hoyeraal-Hreidarsson syndrome%3B very short telomeres and greatly reduced telomerase activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17785587;Dbxref=dbSNP:rs199422304,PM |
| O14746 | 885 | 947 | 902 | 902 | Natural variant | ID=VAR_036869;Note=In DKCA2%3B abolishes telomerase catalytic activity but no effect on binding to TERC. K->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16247010,ECO:0000269|PubMed:16990594;Dbxref=dbSNP:rs121918665,PMID:16247010,PMI |
| O14746 | 885 | 947 | 902 | 902 | Natural variant | ID=VAR_068798;Note=In PFBMFT1. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21436073;Dbxref=dbSNP:rs387907250,PMID:21436073 |
| O14746 | 885 | 947 | 923 | 923 | Natural variant | ID=VAR_068799;Note=In PFBMFT1. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22512499;Dbxref=dbSNP:rs387907251,PMID:22512499 |
| O14746 | 885 | 947 | 914 | 928 | Region | Note=Required for oligomerization |
| O14746 | 885 | 947 | 930 | 934 | Region | Note=Primer grip sequence |
| O14746 | 885 | 947 | 936 | 1132 | Region | Note=CTE |
| O14746 | 1052 | 1098 | 808 | 1132 | Alternative sequence | ID=VSP_019588;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12869302,ECO:0000303|PubMed:14654914;Dbxref=PMID:12869302,PMID:14654914 |
| O14746 | 1052 | 1098 | 1 | 1132 | Chain | ID=PRO_0000054925;Note=Telomerase reverse transcriptase |
| O14746 | 1052 | 1098 | 1067 | 1082 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UGW |
| O14746 | 1052 | 1098 | 1083 | 1085 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UGW |
| O14746 | 1052 | 1098 | 1086 | 1104 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UGW |
| O14746 | 1052 | 1098 | 1062 | 1062 | Natural variant | ID=VAR_025150;Note=Increased incidence in sporadic acute myeloid leukemia. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15814878,ECO:0000269|PubMed:19147845,ECO:0000269|PubMed:19760749,ECO:0000269|Ref.7;Db |
| O14746 | 1052 | 1098 | 1090 | 1090 | Natural variant | ID=VAR_036870;Note=In PFBMFT1%3B severe. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15814878;Dbxref=dbSNP:rs121918664,PMID:15814878 |
| O14746 | 1052 | 1098 | 936 | 1132 | Region | Note=CTE |
| O14746 | 1052 | 1098 | 1051 | 1053 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UGW |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O14746 | 885 | 947 | 808 | 1132 | Alternative sequence | ID=VSP_019588;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12869302,ECO:0000303|PubMed:14654914;Dbxref=PMID:12869302,PMID:14654914 |
| O14746 | 885 | 947 | 885 | 947 | Alternative sequence | ID=VSP_021727;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14654914;Dbxref=PMID:14654914 |
| O14746 | 885 | 947 | 1 | 1132 | Chain | ID=PRO_0000054925;Note=Telomerase reverse transcriptase |
| O14746 | 885 | 947 | 605 | 935 | Domain | Note=Reverse transcriptase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00405 |
| O14746 | 885 | 947 | 930 | 934 | Mutagenesis | Note=Completely abolishes telomerase-mediated primer extension and reduced binding to short telomeric primers. Complete loss of catalytic activity but no further loss of binding to telomeric primers%3B when associated with 137-A--A-141. WCGLL->AAAAA;Ontol |
| O14746 | 885 | 947 | 901 | 901 | Natural variant | ID=VAR_062541;Note=In DKCB4%3B severe phenotype overlapping with Hoyeraal-Hreidarsson syndrome%3B very short telomeres and greatly reduced telomerase activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17785587;Dbxref=dbSNP:rs199422304,PM |
| O14746 | 885 | 947 | 902 | 902 | Natural variant | ID=VAR_036869;Note=In DKCA2%3B abolishes telomerase catalytic activity but no effect on binding to TERC. K->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16247010,ECO:0000269|PubMed:16990594;Dbxref=dbSNP:rs121918665,PMID:16247010,PMI |
| O14746 | 885 | 947 | 902 | 902 | Natural variant | ID=VAR_068798;Note=In PFBMFT1. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21436073;Dbxref=dbSNP:rs387907250,PMID:21436073 |
| O14746 | 885 | 947 | 923 | 923 | Natural variant | ID=VAR_068799;Note=In PFBMFT1. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22512499;Dbxref=dbSNP:rs387907251,PMID:22512499 |
| O14746 | 885 | 947 | 914 | 928 | Region | Note=Required for oligomerization |
| O14746 | 885 | 947 | 930 | 934 | Region | Note=Primer grip sequence |
| O14746 | 885 | 947 | 936 | 1132 | Region | Note=CTE |
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SNVs in the skipped exons for TERT |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_440787 | 1254483 | 1254620 | 1254571 | 1254571 | Frame_Shift_Del | G | - | p.A1069fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_440787 | 1254483 | 1254620 | 1254587 | 1254587 | Frame_Shift_Del | G | - | p.P1064fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_440794 | 1264519 | 1264707 | 1264642 | 1264642 | Frame_Shift_Del | A | - | p.F907fs |
| KICH | TCGA-KN-8429-01 | exon_skip_440796 | 1293428 | 1294781 | 1294102 | 1294102 | Frame_Shift_Del | C | - | p.G300fs |
| SKCM | TCGA-GF-A4EO-06 | exon_skip_440787 | 1254483 | 1254620 | 1254494 | 1254494 | Nonsense_Mutation | G | C | p.S1095* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HEC6_ENDOMETRIUM | 1254483 | 1254620 | 1254501 | 1254501 | Missense_Mutation | G | T | p.L1093M |
| MELHO_SKIN | 1254483 | 1254620 | 1254558 | 1254558 | Missense_Mutation | A | C | p.C1074G |
| TE6_OESOPHAGUS | 1254483 | 1254620 | 1254576 | 1254576 | Missense_Mutation | C | T | p.E1068K |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 1264519 | 1264707 | 1264549 | 1264549 | Missense_Mutation | C | A | p.R938L |
| IM95_STOMACH | 1264519 | 1264707 | 1264586 | 1264586 | Missense_Mutation | C | A | p.G926C |
| PRECLH_PROSTATE | 1264519 | 1264707 | 1264631 | 1264631 | Missense_Mutation | C | T | p.D911N |
| PRECLH_PROSTATE | 1264519 | 1264707 | 1264634 | 1264634 | Missense_Mutation | C | T | p.E910K |
| EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1264519 | 1264707 | 1264669 | 1264669 | Missense_Mutation | A | G | p.V898A |
| PRECLH_PROSTATE | 1264519 | 1264707 | 1264696 | 1264696 | Missense_Mutation | C | T | p.R889Q |
| HEC1A_ENDOMETRIUM | 1293428 | 1294781 | 1293439 | 1293439 | Missense_Mutation | C | T | p.R521H |
| HEC1_ENDOMETRIUM | 1293428 | 1294781 | 1293439 | 1293439 | Missense_Mutation | C | T | p.R521H |
| HEC1B_ENDOMETRIUM | 1293428 | 1294781 | 1293439 | 1293439 | Missense_Mutation | C | T | p.R521H |
| HDQP1_BREAST | 1293428 | 1294781 | 1293443 | 1293443 | Missense_Mutation | G | C | p.L520V |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1293465 | 1293465 | Missense_Mutation | C | T | p.M512I |
| HCT116_LARGE_INTESTINE | 1293428 | 1294781 | 1293551 | 1293551 | Missense_Mutation | C | T | p.E484K |
| NCIH226_LUNG | 1293428 | 1294781 | 1293670 | 1293670 | Missense_Mutation | T | C | p.D444G |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1293428 | 1294781 | 1293680 | 1293680 | Missense_Mutation | C | T | p.E441K |
| SNU175_LARGE_INTESTINE | 1293428 | 1294781 | 1293731 | 1293731 | Missense_Mutation | C | T | p.G424S |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1293808 | 1293808 | Missense_Mutation | C | T | p.G398E |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1293818 | 1293818 | Missense_Mutation | C | T | p.E395K |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 1293428 | 1294781 | 1293833 | 1293833 | Missense_Mutation | G | A | p.R390W |
| PACADD161_PANCREAS | 1293428 | 1294781 | 1293847 | 1293847 | Missense_Mutation | C | T | p.R385H |
| DMS273_LUNG | 1293428 | 1294781 | 1293849 | 1293849 | Missense_Mutation | C | A | p.Q384H |
| SNU398_LIVER | 1293428 | 1294781 | 1293967 | 1293967 | Missense_Mutation | A | T | p.F345Y |
| NCIH650_LUNG | 1293428 | 1294781 | 1294099 | 1294099 | Missense_Mutation | C | T | p.R301H |
| LB647SCLC_LUNG | 1293428 | 1294781 | 1294106 | 1294106 | Missense_Mutation | C | A | p.V299L |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 1293428 | 1294781 | 1294150 | 1294150 | Missense_Mutation | G | A | p.S284F |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1293428 | 1294781 | 1294216 | 1294216 | Missense_Mutation | G | A | p.T262M |
| KU1919_URINARY_TRACT | 1293428 | 1294781 | 1294328 | 1294328 | Missense_Mutation | C | T | p.G225R |
| NCIH2052_PLEURA | 1293428 | 1294781 | 1294331 | 1294331 | Missense_Mutation | G | A | p.R224C |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1293428 | 1294781 | 1294339 | 1294339 | Missense_Mutation | G | A | p.A221V |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1294403 | 1294403 | Missense_Mutation | C | T | p.E200K |
| MCAS_OVARY | 1293428 | 1294781 | 1294415 | 1294415 | Missense_Mutation | G | A | p.R196C |
| KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1293428 | 1294781 | 1294426 | 1294426 | Missense_Mutation | C | A | p.G192V |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1294562 | 1294562 | Missense_Mutation | C | T | p.D147N |
| HEC6_ENDOMETRIUM | 1293428 | 1294781 | 1294603 | 1294603 | Missense_Mutation | C | A | p.G133V |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1294688 | 1294688 | Missense_Mutation | C | T | p.D105N |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1294766 | 1294766 | Missense_Mutation | C | T | p.E79K |
| KMH2_THYROID | 1254483 | 1254620 | 1254494 | 1254494 | Nonsense_Mutation | G | T | p.S1095* |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1293472 | 1293472 | Nonsense_Mutation | C | T | p.W510* |
| SNU175_LARGE_INTESTINE | 1293428 | 1294781 | 1293485 | 1293485 | Nonsense_Mutation | G | A | p.Q506* |
| PRECLH_PROSTATE | 1293428 | 1294781 | 1293888 | 1293888 | Nonsense_Mutation | C | T | p.W371* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TERT |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TERT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TERT |
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RelatedDrugs for TERT |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| O14746 | DB00495 | Zidovudine | Telomerase reverse transcriptase | small molecule | approved |
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RelatedDiseases for TERT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TERT | C3553617 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | 9 | UNIPROT |
| TERT | C3151443 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | 6 | UNIPROT |
| TERT | C0002874 | Aplastic Anemia | 4 | CTD_human;HPO;UNIPROT |
| TERT | C1800706 | Idiopathic Pulmonary Fibrosis | 4 | CTD_human;ORPHANET |
| TERT | C2239176 | Liver carcinoma | 4 | CTD_human |
| TERT | C0265965 | Dyskeratosis Congenita | 3 | CTD_human;ORPHANET |
| TERT | C0017638 | Glioma | 2 | CTD_human |
| TERT | C0024121 | Lung Neoplasms | 2 | CTD_human |
| TERT | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| TERT | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| TERT | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| TERT | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| TERT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| TERT | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| TERT | C0010314 | Cri-du-Chat Syndrome | 1 | CTD_human |
| TERT | C0022658 | Kidney Diseases | 1 | CTD_human |
| TERT | C0023448 | Lymphoid leukemia | 1 | CTD_human |
| TERT | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
| TERT | C0023903 | Liver neoplasms | 1 | CTD_human |
| TERT | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
| TERT | C0025202 | melanoma | 1 | CTD_human;HPO |
| TERT | C0027819 | Neuroblastoma | 1 | CTD_human |
| TERT | C0035126 | Reperfusion Injury | 1 | CTD_human |
| TERT | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| TERT | C0041696 | Unipolar Depression | 1 | PSYGENET |
| TERT | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| TERT | C0919267 | ovarian neoplasm | 1 | CTD_human |
| TERT | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| TERT | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| TERT | C1846142 | HOYERAAL-HREIDARSSON SYNDROME | 1 | CTD_human;ORPHANET |
| TERT | C1956346 | Coronary Artery Disease | 1 | CTD_human |
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