| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
27703446 (5028897) |
A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter. Nishihara E, Hishinuma A, Kogai T, Takada N, Hirokawa M, Fukata S, Ito M, Yabuta T, Nishikawa M, Nakamura H, Amino N, Miyauchi A. Front Endocrinol (Lausanne). 2016;7:131. |
| Hyperthyroidism | ||
| KEAP1 NFE2L2 | ||
| c|SUB|G|1448|A p|SUB|R|483|H | ||
| 1 (4.0%) |
25451712 |
DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter. Wu Y, Chen D, Li Y, Bian L, Ma T, Xie M. Eur J Med Genet. 2014;57(11-12):621-5. |
| Falls | ||
| DICER1 | ||
| c|SUB|C|3540|A p|SUB|Y|1180|* rs886037704 | ||
| Adenocarcinoma Base Sequence Codon, Nonsense DEAD-box RNA Helicases DNA Mutational Analysis Females Genetic Association Studies Genetic Predisposition to Disease Goiter Homo sapiens Lung Neoplasms Neoplasms, Second Primary Ribonuclease III Sertoli-Leydig Cell Tumor Ultrasonography |
Total: 14
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0005987 | Multinodular goiter | Obligate (100%) |
| HP:0002671 | Basal cell carcinoma | Frequent (79-30%) |
| HP:0005584 | Renal cell carcinoma | Frequent (79-30%) |
| HP:0100528 | Pleuropulmonary blastoma | Frequent (79-30%) |
| HP:0100615 | Ovarian neoplasm | Frequent (79-30%) |
| HP:0100617 | Testicular seminoma | Frequent (79-30%) |
| HP:0100619 | Sertoli cell neoplasm | Frequent (79-30%) |
| HP:0200063 | Colorectal polyposis | Frequent (79-30%) |
| HP:0002890 | Thyroid carcinoma | Very rare (4-1%) |
| HP:0006779 | Alveolar rhabdomyosarcoma | Very rare (4-1%) |
| HP:0007129 | Cerebellar medulloblastoma | Very rare (4-1%) |
| HP:0030071 | Medulloepithelioma | Very rare (4-1%) |
| HP:0030434 | Pilomatrixoma | Very rare (4-1%) |
| HP:0000836 | Hyperthyroidism | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|