| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Anaplasia |
Anaplasia |
BEFREE |
25950909 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic thyroid carcinoma |
Anaplastic thyroid cancer |
BEFREE |
27796151 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bamforth syndrome |
Bamforth-Lazarus syndrome |
ORPHANET_DG |
12165566, 9697705 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bamforth syndrome |
Bamforth-Lazarus syndrome |
UNIPROT_DG |
12165566, 21177256, 24219130, 9697705 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bamforth syndrome |
Bamforth-Lazarus syndrome |
BEFREE |
15367491, 21177256, 24219130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bamforth syndrome |
Bamforth-Lazarus syndrome |
CTD_human_DG |
16884476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bamforth syndrome |
Bamforth-Lazarus syndrome |
GENOMICS_ENGLAND_DG |
20453517, 24219130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bamforth syndrome |
Bamforth-Lazarus syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bamforth-Lazarus syndrome |
Bamforth-Lazarus Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
22521644 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
18628296 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
27852061, 31846430 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Adenoid Cystic |
Adenoid cystic carcinoma |
Pubtator |
21692051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Basal Cell |
Basal cell carcinoma |
Pubtator |
15140221 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
27755953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
37442189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Basal Cell |
Carcinoma |
BEFREE |
15140221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHARGE Syndrome |
CHARGE Syndrome |
BEFREE |
16584930 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
GENOMICS_ENGLAND_DG |
24219130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal atresia syndrome |
Pubtator |
24219130 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
BEFREE |
9697705 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic lung disease |
Lung Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip |
Cleft lip |
Pubtator |
19521098, 20583170, 28662356, 29124805, 39840623 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip with or without Cleft Palate |
Cleft Lip With Or Without Cleft Palate |
BEFREE |
19779022, 21462296, 28054174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Palate |
Cleft palate |
Pubtator |
16327884, 19521098, 19779022, 23512105, 24219130, 24738728, 30582786, 31122291, 34242216, 39840623 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
24280874 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
24280874, 25538088, 27271927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
25538088, 32141546, 36308369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Compression of spinal cord |
Spinal cord compression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital Hypothyroidism |
BEFREE |
12165566, 15320969, 15863666, 16882747, 17468187, 17717707, 20094846, 20157192, 20453517, 20484477, 21311165, 24219130, 25146893, 28215547 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital Hypothyroidism |
LHGDN |
12165566 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital Hypothyroidism |
GENOMICS_ENGLAND_DG |
24219130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital hypothyroidism |
Pubtator |
24219130, 25146893, 34200080, 37008944 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Differentiated thyroid carcinoma |
Thyroid Carcinoma |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Differentiated Thyroid Gland Carcinoma |
Thyroid Carcinoma |
BEFREE |
23894154, 24325646, 24489898, 25029422, 25849217, 25879635, 27474100, 27610545, 28703219, 29788924 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial papillary or follicular thyroid carcinoma |
Thyroid Carcinoma |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Follicular adenoma |
Adenoma |
BEFREE |
26370671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Follicular thyroid carcinoma |
Follicular Thyroid Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graves Disease |
Graves Disease |
BEFREE |
21896990 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graves Disease |
Graves disease |
Pubtator |
21896990 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head And Neck Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary hemochromatosis |
Hereditary Hemochromatosis |
BEFREE |
15140221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersomnia |
Hypersomnia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
21981779, 22493691, 25436638, 25652407, 28727628 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
Pubtator |
21981779, 22493691, 25436638, 29650690 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate |
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate |
CTD_human_DG |
16884476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate |
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
25251503 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
22521644 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
27755953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of thyroid |
Thyroid cancer |
BEFREE |
11325833, 19730683, 21896990, 22882326, 23022474, 24489898, 24744143, 25652407, 25855579, 25950909, 26206751, 27207655, 27474100, 27852061, 28049826, 31846430 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
23327367, 27755953, 27852061, 31846430, 9169137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multinodular goiter |
Multinodular goiter |
BEFREE |
25950909 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19930442, 23327367, 23715628, 24280874, 25381600, 27474100, 31129275 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
9169137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nodular Goiter |
Nodular Goiter |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
27755953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonmedullary Thyroid Carcinoma |
Nonmedullary thyroid carcinoma |
BEFREE |
22882326, 24127282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonmedullary Thyroid Carcinoma |
Nonmedullary thyroid carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Orofacial cleft |
Orofacial Cleft |
BEFREE |
26728781 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Orofacial Cleft 1 |
Orofacial cleft |
Pubtator |
19779022, 27527345 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
BEFREE |
16481406, 22177572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
LHGDN |
16481406 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Cyst |
Pancreatic Cyst |
BEFREE |
28148542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary Renal Cell Carcinoma |
Papillary Renal Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
11325833, 19730683, 20350937, 21730105, 21896990, 22736773, 23327367, 23715628, 24105688, 24756757, 24852370, 25303483, 25562676, 25918370, 25950909, 26370671, 26722557, 27191655, 27824288, 28049826, 28660995, 30793770, 30941771, 31129275 View all (9 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
ORPHANET_DG |
21730105 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
BEFREE |
16481406, 22177572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
15367491, 16584930 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of skin |
Skin carcinoma |
BEFREE |
19845668, 19930442 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Agenesis |
Thyroid Agenesis |
BEFREE |
12165566, 16882747, 24219130, 28455095, 9697705 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Agenesis |
Thyroid Agenesis |
GENOMICS_ENGLAND_DG |
24219130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Agenesis |
Thyroid Agenesis |
ORPHANET_DG |
28455095 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Agenesis |
Thyroid Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
19730683, 21896990, 23327367, 24325646, 25303483, 25562676, 25918370, 26722557, 27207655, 27342578, 28049826, 28660995, 30941771, 33551988, 37175943 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| THYROID CANCER, NONMEDULLARY, 4 |
Thyroid Cancer |
UNIPROT_DG |
25381600 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| THYROID CANCER, NONMEDULLARY, 4 |
Thyroid Cancer |
GENOMICS_ENGLAND_DG |
25381600 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| THYROID CANCER, NONMEDULLARY, 4 |
Thyroid Cancer |
CLINVAR_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| THYROID CANCER, NONMEDULLARY, 4 |
Thyroid Cancer |
CTD_human_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
11325833, 19730683, 20350937, 21896990, 22882326, 23022474, 24489898, 24744143, 25652407, 25855579, 25950909, 26206751, 27207655, 27474100, 27852061, 28049826, 31846430 View all (2 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid carcinoma |
Thyroid Carcinoma |
GWASDB_DG |
19198613, 20350937, 23894154 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid Carcinoma Anaplastic |
Thyroid cancer |
Pubtator |
27796151 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Diseases |
Thyroid Diseases |
BEFREE |
21896990 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Diseases |
Thyroid disease |
Pubtator |
21896990, 21981779, 23344678 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Dysgenesis |
Thyroid Dysgenesis |
BEFREE |
10637573, 11580993, 15320969, 16584930, 17717707, 19542741, 20094846, 20453517, 21311165, 21896990, 24219130, 24248179, 28455095 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Dysgenesis |
Thyroid Dysgenesis |
LHGDN |
12165566, 17717707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid hemiagenesis |
Thyroid hemiagenesis |
BEFREE |
15320969, 21311165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Hypoplasia |
Thyroid Hypoplasia |
BEFREE |
11502839, 25146893 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
11325833, 19730683, 21896990, 22882326, 23022474, 24489898, 24744143, 25652407, 25855579, 25950909, 26206751, 27207655, 27474100, 27852061, 28049826, 31846430 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
19730683, 21896990, 24325646, 25562676, 25849217, 25879635, 25918370, 27530615, 27852061, 28049826, 28703219, 30941771, 31846430, 32986379, 33903625, 39179334 View all (1 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Nodule |
Thyroid Nodule |
BEFREE |
26370671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroiditis |
Thyroiditis |
Pubtator |
21981779, 23510370, 25146893, 27852061, 28049826 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroiditis Autoimmune |
Thyroiditis |
Pubtator |
21896990 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
BEFREE |
12165566, 15320969, 16584930, 16882747, 19192046, 19521098, 20453517, 21177256, 24219130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Van der Woude syndrome |
Van der woude syndrome |
Pubtator |
23949966 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |