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:0000836 | HP:0000836 | Hyperthyroidism | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 1 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | 247 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:188580 | Thyrotoxic periodic paralysis, susceptibility to, 1 | . | | | 247 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040283 - Occasional | | | 30 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040282 - Frequent | | | 101 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 2 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | 10 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | . | | | 10 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 464 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 45 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 125 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 68 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | SUGCT CL E G H | 79783 | 16001 | OMIM:231690 | Glutaric aciduria III | HP:0040283 - Occasional | | | 8 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | THRB CL E G H | 7068 | 11799 | OMIM:145650 | Thyroid hormone resistance, selective pituitary | . | | | 161 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:99819 | Familial gestational hyperthyroidism | HP:0040280 - Obligate | | | 97 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:424 | Familial hyperthyroidism due to mutations in TSH receptor | HP:0040280 - Obligate | | | 97 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:603373 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | | | | 97 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:609152 | Hyperthyroidism, nonautoimmune | . | | | 97 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 113 | | |
HP:0000836 | HP:0000836 | Hyperthyroidism | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000836 | HP:0011783 | Thyrotoxicosis from ectopic thyroid tissue | 1 | CL E G H | | | | | | | | | | |
HP:0000836 | HP:0011785 | Thyrotoxicosis with toxic multinodular goiter | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0000836 | HP:0011786 | Thyrotoxicosis with toxic single thyroid nodule | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0000836 | HP:0011784 | Thyrotoxicosis with diffuse goiter | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0000836 | HP:0011782 | Thyroid crisis | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000836 | HP:0011784 | Thyrotoxicosis with diffuse goiter | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0000836 | HP:0011784 | Thyrotoxicosis with diffuse goiter | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | | | |
HP:0000836 | HP:0011785 | Thyrotoxicosis with toxic multinodular goiter | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | | | |
HP:0000836 | HP:0011786 | Thyrotoxicosis with toxic single thyroid nodule | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | | | |
HP:0000836 | HP:0011786 | Thyrotoxicosis with toxic single thyroid nodule | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 10 | | |
HP:0000836 | HP:0011784 | Thyrotoxicosis with diffuse goiter | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 10 | | |
HP:0000836 | HP:0011785 | Thyrotoxicosis with toxic multinodular goiter | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 10 | | |
HP:0000836 | HP:0011784 | Thyrotoxicosis with diffuse goiter | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0000836 | HP:0011784 | Thyrotoxicosis with diffuse goiter | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:99819 | Familial gestational hyperthyroidism | HP:0040281 - Very frequent | | | 97 | | |
HP:0000836 | HP:0011784 | Thyrotoxicosis with diffuse goiter | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:424 | Familial hyperthyroidism due to mutations in TSH receptor | HP:0040281 - Very frequent | | | 97 | | |
HP:0000836 | HP:0100647 | Graves disease | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0000836 | HP:0100647 | Graves disease | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0000836 | HP:0100647 | Graves disease | 2 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | | | |
HP:0000836 | HP:0100647 | Graves disease | 2 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 10 | | |
HP:0000836 | HP:0100647 | Graves disease | 2 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |