| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atypical Ductal Breast Hyperplasia |
Breast Hyperplasia |
BEFREE |
24708097, 24823460, 27334330, 27647839 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant hypocalcemia |
Hypocalcemia |
BEFREE |
23802516, 24708097, 31820785 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal dominant hypocalcemia |
Hypocalcemia |
ORPHANET_DG |
23802516 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal dominant hypocalcemia |
Hypocalcemia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29206651 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24297604 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcium pyrophosphate deposition disease |
Chondrocalcinosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Capillary malformation (disorder) |
Capillary malformation |
BEFREE |
28120216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Small Cell |
Small cell carcinoma |
Pubtator |
37750536 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carney Complex |
Carney Complex |
BEFREE |
28012237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CATARACT, MARNER TYPE |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Nervous System Neoplasms |
Central nervous system neoplasm |
Pubtator |
34031065 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortex myoclonus |
Cerebral Cortex Myoclonus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
BEFREE |
20454457 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
28675510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
CTD_human_DG |
9687499 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital hemangioma |
Congenital Hemangioma |
BEFREE |
27058448 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital hemangioma |
Congenital Hemangioma |
GENOMICS_ENGLAND_DG |
27058448 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital lamellar cataract |
Congenital Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous Melanoma |
Melanoma |
BEFREE |
24423917, 24697775, 24882515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous Melanoma |
Melanoma |
CLINVAR_DG |
26619011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous Melanoma |
Melanoma |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis marmorata telangiectatica congenita |
Cutis marmorata telangiectatica congenita |
Pubtator |
35700413 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
30054423 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epidermolysis bullosa simplex Ogna type |
Epidermolysis bullosa |
Pubtator |
28675510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelioid and spindle cell nevus |
Spitz nevus |
BEFREE |
23599145 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erdheim-Chester Disease |
Erdheim-Chester Disease |
BEFREE |
28295484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
33457096 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial benign hypercalcemia |
Hypocalciuric hypercalcemia |
BEFREE |
23802516, 25104082, 26729423, 27913609, 28176280, 28833550, 8445032 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial hypocalciuric hypercalcemia type 2 |
Hypocalciuric Hypercalcemia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial Hypophosphatemic Rickets |
Hypophosphatemic rickets |
Pubtator |
27334330 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
37053535 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
27334330 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
BEFREE |
31189994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Histiocytosis, Langerhans-Cell |
Histiocytosis |
BEFREE |
27476652, 28295484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperaldosteronism |
Hyperaldosteronism |
Pubtator |
34385710 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercalcemia |
Hypercalcemia |
BEFREE |
23802516, 28833550, 29046478, 6253580, 8445032 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercalcemia |
Hypercalcemia |
Pubtator |
23802516, 28833550 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercalcemia |
Hypercalcemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypermagnesemia |
Hypermagnesemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperparathyroidism |
Hyperparathyroidism |
BEFREE |
26163537, 28122587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperparathyroidism |
Hyperparathyroidism |
Pubtator |
37810884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPERPARATHYROIDISM, NEONATAL SEVERE |
Hyperparathyroidism |
BEFREE |
15200151, 9920407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperparathyroidism, Primary |
Hyperparathyroidism |
BEFREE |
25104082, 27913609, 8445032 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperparathyroidism, Primary |
Hyperparathyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperphosphatemia (disorder) |
Hyperphosphatemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
36440997 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocalcemia |
Hypocalcemia |
Pubtator |
23802516, 26818911, 27334330 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocalcemia Autosomal Dominant with Bartter Syndrome |
Hypocalcemia |
Pubtator |
23802516, 24708097 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 |
Hypocalcemia |
ORPHANET_DG |
23802516 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME |
Hypocalcemia |
ORPHANET_DG |
23802516 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 |
Hypocalcemia |
GENOMICS_ENGLAND_DG |
23782177, 23802516, 26729423 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 |
Hypocalcemia |
UNIPROT_DG |
23782177, 23802516 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 |
Hypocalcemia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypocalciuric hypercalcemia |
Hypocalciuric Hypercalcemia |
BEFREE |
9920407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocalciuric hypercalcemia familial type 1 |
Hypocalciuric hypercalcemia |
Pubtator |
23802516, 26729423, 31723423 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocalciuric hypercalcemia familial type 2 |
Hypocalciuric hypercalcemia |
Pubtator |
23802516, 24708097, 26729423, 26994139, 28833550 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocalciuric hypercalcemia, familial, type 1 |
Hypocalciuric Hypercalcemia |
BEFREE |
20133464, 23802516, 24708097, 24731014, 25104082, 26729423, 26963950, 27647839, 27913609, 28176280, 28833550 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) |
Hypocalciuric hypercalcemia |
GENOMICS_ENGLAND_DG |
23782177, 26729423 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) |
Hypocalciuric hypercalcemia |
ORPHANET_DG |
23802516 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) |
Hypocalciuric hypercalcemia |
UNIPROT_DG |
23802516 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) |
Hypocalciuric hypercalcemia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) |
Hypocalciuric hypercalcemia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoparathyroidism |
Hypoparathyroidism |
BEFREE |
28122587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoparathyroidism |
Hypoparathyroidism |
Pubtator |
30137364 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoparathyroidism familial isolated |
Hypoparathyroidism |
BEFREE |
28938448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inferior lens subluxation |
Inferior lens subluxation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory abnormality of the eye |
Inflammatory abnormality of the eye |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
Pubtator |
26818911 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Neoplasms |
Liver neoplasm |
Pubtator |
30601876 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant melanoma of choroid |
Choroidal melanoma |
ORPHANET_DG |
21083380, 23714557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant melanoma of choroid |
Choroidal melanoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant melanoma of ciliary body |
Ciliary body melanoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant melanoma of iris |
Iris melanoma |
ORPHANET_DG |
21083380, 23714557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant melanoma of iris |
Iris melanoma |
BEFREE |
28700778 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant melanoma of iris |
Iris melanoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Mesothelioma of Peritoneum |
Peritoneal mesothelioma |
BEFREE |
25588929 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
12759536, 29206651 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
23177739, 24882515, 28223438, 30008023, 30204251, 31277366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
CLINVAR_DG |
1328859, 21083380, 22733540, 22808163, 2549426 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| melanoma |
Melanoma |
BEFREE |
21083380, 21482206, 23640210, 23778528, 24274719, 24423917, 24458518, 24697775, 25030020, 25280020, 25315378, 25769001, 26743478, 26825879, 27273450, 28012237, 28223438, 28409567, 29209985, 29490280, 30054423 View all (6 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Melanoma |
Pubtator |
22236444, 22536370, 24345920, 26076063, 26084293, 26368812, 26743478, 27089234, 29371009, 30054423, 30558566, 30601876, 34031065, 35642348, 35835335, 37053535 View all (1 more) |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| melanoma |
Melanoma |
CTD_human_DG |
23432625 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| melanoma |
Melanoma |
CGI_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma Cutaneous Malignant |
Melanoma |
Pubtator |
26825879, 35512098 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
25588929 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood swings |
Mood swings |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mouth Diseases |
Mouth disease |
Pubtator |
27476652 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| mucosal melanoma |
Mucosal Melanoma |
BEFREE |
27498141 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple lipomata |
Multiple Lipomata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
25159868 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenias |
Myasthenia Gravis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
22808163, 22977135, 23887304, 23934701, 24423917, 24697775, 26825879, 27117140, 27439913, 28248732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrocalcinosis |
Nephrocalcinosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurocutaneous Syndromes |
Neurocutaneous Syndromes |
BEFREE |
30920161 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nevus, Blue |
Blue Nevus |
BEFREE |
21083380, 26743478, 28409567, 30315589 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ocular Hypertension |
Ocular Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
29170526 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary craniopharyngioma |
Papillary Craniopharyngioma |
BEFREE |
28295484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phakomatosis cesioflammea |
Phakomatosis Cesioflammea |
ORPHANET_DG |
26778290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phakomatosis cesioflammea |
Phakomatosis Cesioflammea |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phakomatosis cesiomarmorata |
Phakomatosis Cesiomarmorata |
ORPHANET_DG |
26778290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phakomatosis cesiomarmorata |
Phakomatosis Cesiomarmorata |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyglandular Type I Autoimmune Syndrome |
Polyglandular autoimmune syndrome |
BEFREE |
24423332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Port-wine stain with oculocutaneous melanosis |
Phakomatosis pigmentovascularis |
BEFREE |
26778290, 30920161 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Port-wine stain with oculocutaneous melanosis |
Phakomatosis pigmentovascularis |
GENOMICS_ENGLAND_DG |
26778290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Detachment |
Retinal Detachment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Senile angioma |
Angioma |
BEFREE |
30601876, 31189994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
32737449 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tuberous Sclerosis |
Tuberous Sclerosis |
BEFREE |
30920161 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveal melanoma |
Uveal Melanoma |
BEFREE |
21083380, 22236444, 23177739, 23443802, 23456173, 23464620, 23634288, 23685997, 23778528, 23887304, 24141786, 24413085, 24697775, 25280020, 25304237, 25315378, 25653058, 25756553, 25764247, 26113083, 26368812, 26397223, 26683228, 26825879, 27058448, 28223438, 28248732, 28444874, 28982892, 29206651, 29490280, 30008023, 30320917, 30525429, 30773340, 31173078, 31394807, 31614358, 31671564 View all (24 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Uveal Melanoma |
ORPHANET_DG |
21083380, 23714557 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Uveal Melanoma |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Uveal Melanoma |
CLINVAR_DG |
21444680, 24141786, 25157968 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Uveal melanoma |
Pubtator |
21828154, 21945171, 22236444, 22977135, 23634288, 23778528, 23887304, 24423917, 25030020, 25280020, 25315378, 25653058, 25764247, 25769001, 26059332, 26368812, 26683228, 26744134, 26769193, 26825879, 26994139, 27058448, 27123562, 27745836, 28444874, 29209985, 29726589, 30008023, 30571927, 30601876, 30760858, 31227497, 32277165, 32415113, 33348918, 34031065, 34533562, 35352024, 35512098, 36596361, 37467061, 37923138, 38126027, 38644411 View all (29 more) |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Uveal Melanoma |
CTD_human_DG |
22733540, 26397223, 27089179 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uveal melanoma |
Uveal Melanoma |
CGI_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vascular Diseases |
Vascular disease |
Pubtator |
37750536 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Writer`s Cramp |
Writer`s Cramp |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |