Nodular goiter
diseaseOn this page
Also known as goiter, nodularnodular goiter (disease)nodular goitre (disease)nodular goitre NOS
Summary
Nodular goiter (MONDO:0006869) is a disease with 239 GWAS associations across 14 studies and 12 clinical trials. Top therapeutic interventions include remifentanil and iodide. A subtype of goiter — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 239
- Clinical trials: 12
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | nodular goiter |
| Mondo ID | MONDO:0006869 |
| EFO | EFO:1001062 |
| MeSH | D006044 |
| DOID | DOID:13197 |
| NCIT | C131437 |
| SNOMED CT | 419153005 |
| UMLS | C0018023 |
| MedGen | 42271 |
| MedDRA | 10018495 |
| Is cancer (heuristic) | no |
Also known as: goiter, nodular · nodular goiter · nodular goiter (disease) · nodular goitre (disease) · nodular goitre NOS
Data availability: 239 GWAS associations (14 studies) · 1 HPO phenotype.
Disease family
This is a subtype of goiter. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › endocrine system disorder › thyroid gland disorder › goiter › nodular goiter
Related subtypes (6): toxic diffuse goiter, dyshormonogenic goiter, nontoxic goiter, endemic goiter, lingual goiter, substernal goiter
Subtypes (1): multinodular goiter
Genetics & variants
GWAS landscape
239 GWAS associations across 14 studies. Top hits map to 28 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs1561962 | 6e-292 | PTCSC2 | T | 0.42 |
| rs17477923 | 4e-279 | FAM227B | C | 0.24 |
| rs925488 | 2e-269 | PTCSC2 | A | 0.44 |
| rs1007202 | 2e-159 | LNCNEF - LINC01747 | G | 0.18 |
| rs1203946 | 1e-146 | LNCNEF - LINC01747 | C | 0.21 |
| rs57481445 | 2e-139 | DIRC3 | G | 0.24 |
| rs12461206 | 1e-117 | INSR | C | 0.17 |
| rs2439304 | 1e-112 | NRG1 | G | 0.17 |
| rs58722186 | 4e-104 | MAFTRR, LINC01229 | T | 0.14 |
| rs12431502 | 9e-104 | ITPK1 | A | 0.17 |
| rs10917469 | 7e-101 | MICOS10 | G | 0.16 |
| rs2183451 | 7e-99 | LINC00609 | G | 0.15 |
| rs79676842 | 4e-97 | TG | T | 0.43 |
| rs116909374 | 2e-93 | LINC00609 - MBIP | T | 0.35 |
| rs12101080 | 7e-89 | ITPK1 | T | 0.18 |
| rs12589124 | 1e-83 | LINC00609 | A | 0.18 |
| rs3758723 | 3e-82 | PRDM11 | C | 0.13 |
| rs334699 | 8e-81 | NFIA | G | 0.23 |
| rs11038357 | 1e-76 | PRDM11 | A | 0.14 |
| rs66760320 | 1e-66 | SCIRT | T | 0.12 |
| rs4578973 | 2e-66 | LINC00887 | T | 0.14 |
| rs9971770 | 4e-63 | MSRB3-AS1 | C | 0.24 |
| rs10799824 | 4e-58 | MICOS10 | A | 0.15 |
| rs675763 | 3e-48 | LINC02869 | G | 0.09 |
| rs1690789 | 8e-48 | LINC02869 | T | 0.1 |
| rs142698837 | 9e-48 | TG | A | 1.06 |
| rs7725218 | 3e-44 | TERT | A | 0.11 |
| rs13295081 | 5e-44 | PTCSC2 | C | 0.11 |
| rs9296422 | 1e-42 | SCIRT, LINC01512 | C | 0.11 |
| rs78455089 | 1e-41 | EPB41L4A | A | 0.22 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90627740 | White SL | 2026 | 50,603 | 1,756,950 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627765 | White SL | 2026 | 45,362 | 1,686,534 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627737 | White SL | 2026 | 9,845 | 198,496 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627758 | White SL | 2026 | 8,253 | 0 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627773 | White SL | 2026 | 7,071 | 0 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627738 | White SL | 2026 | 4,102 | 115,168 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627739 | White SL | 2026 | 2,145 | 262,896 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627757 | White SL | 2026 | 641 | 0 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627756 | White SL | 2026 | 451 | 0 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
| GCST90627741 | White SL | 2026 | 0 | 0 | Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 48 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 47 |
| low_freq (0.01-0.05) | 2 |
| rare (<0.01) | 1 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 40 |
| intergenic_variant | 5 |
| non_coding_transcript_exon_variant | 3 |
| missense_variant | 1 |
| TF_binding_site_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs1561962 | 9 | 97783937 | C>G,T | 0.322 | intron_variant | PTCSC2 | 6e-292 | Tier 4: intronic/intergenic |
| rs17477923 | 15 | 49418988 | T>C | 0.24 | intron_variant | FAM227B | 4e-279 | Tier 4: intronic/intergenic |
| rs925488 | 9 | 97784109 | G>A | 0.349 | intron_variant | PTCSC2 | 2e-269 | Tier 4: intronic/intergenic |
| rs1007202 | 20 | 22608882 | T>A,C,G | 0.253 | intergenic_variant | LNCNEF - LINC01747 | 2e-159 | Tier 4: intronic/intergenic |
| rs1203946 | 20 | 22620340 | A>C | 0.228 | intergenic_variant | LNCNEF - LINC01747 | 1e-146 | Tier 4: intronic/intergenic |
| rs57481445 | 2 | 217431651 | A>G | 0.297 | intron_variant | DIRC3 | 2e-139 | Tier 4: intronic/intergenic |
| rs12461206 | 19 | 7235439 | A>C,T | 0.228 | intron_variant | INSR | 1e-117 | Tier 4: intronic/intergenic |
| rs2439304 | 8 | 32572853 | A>G,T | 0.473 | intron_variant | NRG1 | 1e-112 | Tier 4: intronic/intergenic |
| rs58722186 | 16 | 79717694 | C>A,T | 0.292 | intron_variant | MAFTRR, LINC01229 | 4e-104 | Tier 4: intronic/intergenic |
| rs12431502 | 14 | 93097919 | G>A | 0.175 | intron_variant | ITPK1 | 9e-104 | Tier 4: intronic/intergenic |
| rs10917469 | 1 | 19517082 | A>G,T | 0.162 | intron_variant | MICOS10 | 7e-101 | Tier 4: intronic/intergenic |
| rs2183451 | 14 | 36095227 | T>G | 0.499 | intron_variant | LINC00609 | 7e-99 | Tier 4: intronic/intergenic |
| rs79676842 | 8 | 132871660 | G>A,T | 0.02 | intron_variant | TG | 4e-97 | Tier 4: intronic/intergenic |
| rs116909374 | 14 | 36269155 | C>T | 0.029 | non_coding_transcript_exon_variant | LINC00609 - MBIP | 2e-93 | Tier 4: intronic/intergenic |
| rs12101080 | 14 | 93096510 | C>T | 0.2 | intron_variant | ITPK1 | 7e-89 | Tier 4: intronic/intergenic |
| rs12589124 | 14 | 36094718 | G>A | 0.432 | intron_variant | LINC00609 | 1e-83 | Tier 4: intronic/intergenic |
| rs3758723 | 11 | 45221961 | T>C | 0.26 | intron_variant | PRDM11 | 3e-82 | Tier 4: intronic/intergenic |
| rs334699 | 1 | 61154824 | A>C,G,T | 0.067 | intron_variant | NFIA | 8e-81 | Tier 4: intronic/intergenic |
| rs11038357 | 11 | 45216307 | T>A,C,G | 0.282 | intron_variant | PRDM11 | 1e-76 | Tier 4: intronic/intergenic |
| rs66760320 | 6 | 43938518 | C>T | 0.264 | intron_variant | SCIRT | 1e-66 | Tier 4: intronic/intergenic |
| rs4578973 | 3 | 194200845 | C>T | 0.214 | non_coding_transcript_exon_variant | LINC00887 | 2e-66 | Tier 4: intronic/intergenic |
| rs9971770 | 12 | 65639270 | G>A,C,T | 0.159 | intron_variant | MSRB3-AS1 | 4e-63 | Tier 4: intronic/intergenic |
| rs10799824 | 1 | 19514680 | G>A | 0.148 | intron_variant | MICOS10 | 4e-58 | Tier 4: intronic/intergenic |
| rs675763 | 1 | 218508777 | A>C,G,T | 0.39 | intron_variant | LINC02869 | 3e-48 | Tier 4: intronic/intergenic |
| rs1690789 | 1 | 218524685 | C>A,T | 0.481 | intron_variant | LINC02869 | 8e-48 | Tier 4: intronic/intergenic |
| rs142698837 | 8 | 132869781 | G>A | 0.001 | missense_variant | TG | 9e-48 | Tier 1: coding |
| rs7725218 | 5 | 1282299 | G>A,T | 0.373 | intron_variant | TERT | 3e-44 | Tier 4: intronic/intergenic |
| rs13295081 | 9 | 97796729 | T>A,C | 0.337 | intron_variant | PTCSC2 | 5e-44 | Tier 4: intronic/intergenic |
| rs9296422 | 6 | 43938079 | G>A,C | 0.24 | non_coding_transcript_exon_variant | SCIRT, LINC01512 | 1e-42 | Tier 4: intronic/intergenic |
| rs78455089 | 5 | 112143173 | C>A | 0.116 | TF_binding_site_variant | EPB41L4A | 1e-41 | Tier 3: regulatory |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Thyrotropin Alfa.
Clinical trials & evidence
Clinical trials
Clinical trials: 12.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 9 |
| PHASE4 | 2 |
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00277589 | PHASE4 | COMPLETED | LISA-study : Levothyroxin in Nodular Goiter |
| NCT01761149 | PHASE4 | UNKNOWN | Effect of Higher Doses of Remifentanil on Postoperative Pain in Patients Undergoing Thyroidectomy |
| NCT00275171 | PHASE2 | COMPLETED | rhTSH, Radioiodine Uptake and Goiter Reduction Following 131I Therapy in Patients With Benign Nontoxic Nodular Goiter |
| NCT06537141 | Not specified | NOT_YET_RECRUITING | Role of Embolization of Thyroid Arteries as a Treatment for Different Thyroid Disorders |
| NCT07258199 | Not specified | ENROLLING_BY_INVITATION | TACE Treats Nodular Goiter |
| NCT00615537 | Not specified | COMPLETED | Pilot Study on Laser Ablation of Symptomatic Benign Thyroid Masses |
| NCT01102127 | Not specified | COMPLETED | Elastography in Thyroid Nodules |
| NCT01588288 | Not specified | COMPLETED | Galectin 3 Dosage in Diagnosis of Nodular and Multinodular Goiter |
| NCT02205801 | Not specified | COMPLETED | Study of the Efficacy of Local Analgesia as an Adjunct to General Anesthesia in Thyroidectomy and Parathyroidectomy |
| NCT03072654 | Not specified | COMPLETED | Tracheal Anatomy After Thyroidectomy |
| NCT06067594 | Not specified | COMPLETED | Calcitonin in Needle Wash Using Electrochemiluminescence Method For Diagnosis Of Medullary Thyroid Carcinoma. |
| NCT06924242 | Not specified | COMPLETED | Thyroid Cancer in Surgical Treated Multinodular Goiter |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| REMIFENTANIL | 4 | 1 |
| IODIDE | -1 | 1 |
Related Atlas pages
- Drugs: Remifentanil