Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 135 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | | | | 3179 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 192 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 385 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | | | | 169 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:138800 | Goiter, multinodular 1 | | | | 670 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | ECE1 CL E G H | 1889 | 3146 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 13 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 67 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 55 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | ERBB2 CL E G H | 2064 | 3430 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 77 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | ERBB3 CL E G H | 2065 | 3431 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 12 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | FLCN CL E G H | 201163 | 27310 | ORPHA:122 | Birt-Hogg-Dubé syndrome | | | | 332 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 9 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | FOXE1 CL E G H | 2304 | 3806 | OMIM:616534 | Thyroid cancer, nonmedullary, 4 | | | | 9 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | FOXI1 CL E G H | 2299 | 3815 | OMIM:274600 | Pendred syndrome | | | | 33 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | FOXI1 CL E G H | 2299 | 3815 | ORPHA:705 | Pendred syndrome | | | | 33 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | GDNF CL E G H | 2668 | 4232 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 59 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 9 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 58 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | HABP2 CL E G H | 3026 | 4798 | OMIM:616535 | Thyroid cancer, nonmedullary, 5 | | | | 58 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 113 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:705 | Pendred syndrome | | | | 121 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:274600 | Pendred syndrome | | | | 121 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 3 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MINPP1 CL E G H | 9562 | 7102 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 3 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | | | | 5 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:188550 | Thyroid cancer, nonmedullary, 1 | | | | 51 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 102 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | NRTN CL E G H | 4902 | 8007 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 4 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | | | | 134 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | | | | 948 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | HP:0040282 - Frequent | | | 948 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | RET CL E G H | 5979 | 9967 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 572 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | RET CL E G H | 5979 | 9967 | OMIM:155240 | Thyroid carcinoma, familial medullary | | | | 572 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | | | | 60 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SEMA3C CL E G H | 10512 | 10725 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SEMA3D CL E G H | 223117 | 10726 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 2 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:274600 | Pendred syndrome | | | | 274 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:705 | Pendred syndrome | | | | 274 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 22 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SREBF1 CL E G H | 6720 | 11289 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | SRGAP1 CL E G H | 57522 | 17382 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 3 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | TG CL E G H | 7038 | 11764 | OMIM:274700 | Thyroid hormonogenesis, genetic defect in, 3 | | | | 155 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100031 | HP:0100031 | Neoplasm of the thyroid gland | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040283 - Occasional | | | 3179 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040284 - Very rare | | | 385 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | | | | 169 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040284 - Very rare | | | 169 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040284 - Very rare | | | 169 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 833 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | 670 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:138800 | Goiter, multinodular 1 | | | | 670 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | FLCN CL E G H | 201163 | 27310 | ORPHA:122 | Birt-Hogg-Dubé syndrome | | | | 332 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 9 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | FOXE1 CL E G H | 2304 | 3806 | OMIM:616534 | Thyroid cancer, nonmedullary, 4 | | | | 9 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | FOXI1 CL E G H | 2299 | 3815 | OMIM:274600 | Pendred syndrome | . | | | 33 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | FOXI1 CL E G H | 2299 | 3815 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 58 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | HABP2 CL E G H | 3026 | 4798 | OMIM:616535 | Thyroid cancer, nonmedullary, 5 | | | | 58 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 113 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:274600 | Pendred syndrome | . | | | 121 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 121 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | | | | 3 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | MINPP1 CL E G H | 9562 | 7102 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 3 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | . | | | 5 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 5 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:188550 | Thyroid cancer, nonmedullary, 1 | | | | 51 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 102 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040283 - Occasional | | | 13 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040283 - Occasional | | | 134 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | . | | | 134 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0100031 | HP:0000854 | Thyroid adenoma | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | RET CL E G H | 5979 | 9967 | OMIM:155240 | Thyroid carcinoma, familial medullary | | | | 572 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | | | | 60 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 274 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:274600 | Pendred syndrome | . | | | 274 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | SRGAP1 CL E G H | 57522 | 17382 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 3 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | TG CL E G H | 7038 | 11764 | OMIM:274700 | Thyroid hormonogenesis, genetic defect in, 3 | . | | | 155 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 911 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0100031 | HP:0002890 | Thyroid carcinoma | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0100031 | HP:0011774 | Thyroid follicular adenoma | 2 | CL E G H | | | | | | | | | | |
HP:0100031 | HP:0011779 | Anaplastic thyroid carcinoma | 2 | CL E G H | | | | | | | | | | |
HP:0100031 | HP:0011778 | Thyroid atypical adenoma | 2 | CL E G H | | | | | | | | | | |
HP:0100031 | HP:0011777 | Thyroid papillary adenoma | 2 | CL E G H | | | | | | | | | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040283 - Occasional | | | 3179 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040283 - Occasional | | | 3179 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | 88 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | 219 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | 25 | | |
HP:0100031 | HP:0006781 | Hurthle cell thyroid adenoma | 2 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | . | | | 169 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | DICER1 CL E G H | 23405 | 17098 | OMIM:138800 | Goiter, multinodular 1 | . | | | 670 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | | | |
HP:0100031 | HP:0002865 | Medullary thyroid carcinoma | 2 | FLCN CL E G H | 201163 | 27310 | ORPHA:122 | Birt-Hogg-Dubé syndrome | HP:0040283 - Occasional | | | 332 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040281 - Very frequent | | | 9 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 9 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | FOXE1 CL E G H | 2304 | 3806 | OMIM:616534 | Thyroid cancer, nonmedullary, 4 | | | | 9 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 58 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040281 - Very frequent | | | 58 | | |
HP:0100031 | HP:0040198 | Non-medullary thyroid carcinoma | 2 | HABP2 CL E G H | 3026 | 4798 | OMIM:616535 | Thyroid cancer, nonmedullary, 5 | . | | | 58 | | |
HP:0100031 | HP:0040198 | Non-medullary thyroid carcinoma | 2 | HRAS CL E G H | 3265 | 5173 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | . | | | 113 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | HRAS CL E G H | 3265 | 5173 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | . | | | 113 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | HRAS CL E G H | 3265 | 5173 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 113 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040283 - Occasional | | | 3 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040281 - Very frequent | | | 3 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | MINPP1 CL E G H | 9562 | 7102 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 3 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | MINPP1 CL E G H | 9562 | 7102 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | . | | | 3 | | |
HP:0100031 | HP:0040198 | Non-medullary thyroid carcinoma | 2 | MINPP1 CL E G H | 9562 | 7102 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | . | | | 3 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:188550 | Thyroid cancer, nonmedullary, 1 | . | | | 51 | | |
HP:0100031 | HP:0040198 | Non-medullary thyroid carcinoma | 2 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:188550 | Thyroid cancer, nonmedullary, 1 | . | | | 51 | | |
HP:0100031 | HP:0040198 | Non-medullary thyroid carcinoma | 2 | NRAS CL E G H | 4893 | 7989 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | . | | | 102 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | NRAS CL E G H | 4893 | 7989 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | . | | | 102 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | NRAS CL E G H | 4893 | 7989 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 102 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100031 | HP:0002865 | Medullary thyroid carcinoma | 2 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0100031 | HP:0002865 | Medullary thyroid carcinoma | 2 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0100031 | HP:0002865 | Medullary thyroid carcinoma | 2 | RET CL E G H | 5979 | 9967 | OMIM:155240 | Thyroid carcinoma, familial medullary | . | | | 572 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | | | | 60 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | 617 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | 14 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040284 - Very rare | | | | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | SRGAP1 CL E G H | 57522 | 17382 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | . | | | 3 | | |
HP:0100031 | HP:0040198 | Non-medullary thyroid carcinoma | 2 | SRGAP1 CL E G H | 57522 | 17382 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | . | | | 3 | | |
HP:0100031 | HP:0002895 | Papillary thyroid carcinoma | 2 | SRGAP1 CL E G H | 57522 | 17382 | OMIM:188470 | Thyroid cancer, nonmedullary, 2 | | | | 3 | | |
HP:0100031 | HP:0006731 | Follicular thyroid carcinoma | 2 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100031 | HP:0011776 | Thyroid microfollicular adenoma | 3 | CL E G H | | | | | | | | | | |
HP:0100031 | HP:0011775 | Thyroid macrofollicular adenoma | 3 | CL E G H | | | | | | | | | | |