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:0000853 | HP:0000853 | Goiter | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:188580 | Thyrotoxic periodic paralysis, susceptibility to, 1 | . | | | 247 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0000853 | HP:0000853 | Goiter | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:138800 | Goiter, multinodular 1 | | | | 670 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | DNAH1 CL E G H | 25981 | 2940 | OMIM:617577 | Ciliary dyskinesia, primary, 37 | . | | | 21 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 121 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040282 - Frequent | | | 121 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 11 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | DUOXA2 CL E G H | 405753 | 32698 | OMIM:274900 | Thyroid hormonogenesis, genetic defect in, 5 | . | | | 11 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040282 - Frequent | | | 9 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | FOXE1 CL E G H | 2304 | 3806 | OMIM:616534 | Thyroid cancer, nonmedullary, 4 | . | | | 9 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | FOXI1 CL E G H | 2299 | 3815 | ORPHA:705 | Pendred syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | FOXI1 CL E G H | 2299 | 3815 | OMIM:274600 | Pendred syndrome | . | | | 33 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040282 - Frequent | | | 58 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 130 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | IYD CL E G H | 389434 | 21071 | OMIM:274800 | Thyroid hormonogenesis, genetic defect in, 4 | . | | | 130 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:274600 | Pendred syndrome | . | | | 121 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:705 | Pendred syndrome | HP:0040282 - Frequent | | | 121 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | . | | | 10 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0000853 | HP:0000853 | Goiter | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040282 - Frequent | | | 3 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:188550 | Thyroid cancer, nonmedullary, 1 | . | | | 51 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 464 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 45 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | RCBTB1 CL E G H | 55213 | 18243 | OMIM:617175 | RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA | | | | 8 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 125 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | | | | 1 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | . | | | 60 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 68 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:274600 | Pendred syndrome | . | | | 274 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:705 | Pendred syndrome | HP:0040282 - Frequent | | | 274 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 59 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SLC5A5 CL E G H | 6528 | 11040 | OMIM:274400 | Thyroid hormonogenesis, genetic defect in, 1 | . | | | 59 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | SUGCT CL E G H | 79783 | 16001 | OMIM:231690 | Glutaric aciduria III | HP:0040283 - Occasional | | | 8 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 155 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TG CL E G H | 7038 | 11764 | OMIM:274700 | Thyroid hormonogenesis, genetic defect in, 3 | . | | | 155 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | THRB CL E G H | 7068 | 11799 | OMIM:188570 | Thyroid hormone resistance, generalized, autosomal dominant | . | | | 161 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | . | | | 161 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 92 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TPO CL E G H | 7173 | 12015 | OMIM:274500 | Thyroid hormonogenesis, genetic defect in, 2A | . | | | 92 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040284 - Very rare | | | 9 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:99819 | Familial gestational hyperthyroidism | HP:0040281 - Very frequent | | | 97 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:424 | Familial hyperthyroidism due to mutations in TSH receptor | HP:0040281 - Very frequent | | | 97 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:609152 | Hyperthyroidism, nonautoimmune | . | | | 97 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 113 | | |
HP:0000853 | HP:0000853 | Goiter | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000853 | HP:0008251 | Congenital goiter | 1 | CL E G H | | | | | | | | | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0000853 | HP:0009798 | Euthyroid goiter | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:138800 | Goiter, multinodular 1 | | | | 670 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0000853 | HP:0009798 | Euthyroid goiter | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040281 - Very frequent | | | 9 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | HABP2 CL E G H | 3026 | 4798 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040281 - Very frequent | | | 58 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:319487 | Familial papillary or follicular thyroid carcinoma | HP:0040281 - Very frequent | | | 3 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0000853 | HP:0009798 | Euthyroid goiter | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000853 | HP:0009798 | Euthyroid goiter | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0000853 | HP:0005994 | Nodular goiter | 1 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | | | | 1 | | |
HP:0000853 | HP:0009798 | Euthyroid goiter | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0000853 | HP:0011773 | Uninodular goiter | 2 | CL E G H | | | | | | | | | | |
HP:0000853 | HP:0005987 | Multinodular goiter | 2 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000853 | HP:0005987 | Multinodular goiter | 2 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040280 - Obligate | | | 670 | | |
HP:0000853 | HP:0000866 | Euthyroid multinodular goiter | 2 | DICER1 CL E G H | 23405 | 17098 | OMIM:138800 | Goiter, multinodular 1 | . | | | 670 | | |
HP:0000853 | HP:0005987 | Multinodular goiter | 2 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0000853 | HP:0005987 | Multinodular goiter | 2 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040280 - Obligate | | | | | |
HP:0000853 | HP:0000866 | Euthyroid multinodular goiter | 2 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000853 | HP:0000866 | Euthyroid multinodular goiter | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000853 | HP:0005987 | Multinodular goiter | 2 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | . | | | 1 | | |