| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Albinism |
Albinism |
BEFREE |
21706504 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anhedonia |
Anhedonia |
BEFREE |
28983260 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Antiphospholipid Syndrome |
Antiphospholipid Syndrome |
BEFREE |
30017909 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
28727482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
31574977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brugada Syndrome (disorder) |
Brugada Syndrome |
BEFREE |
15851440 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
30210049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carnitine-Acylcarnitine Translocase Deficiency |
Carnitine-Acylcarnitine Translocase Deficiency |
BEFREE |
10653336 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
22052522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic myeloproliferative disorder |
Myeloproliferative disorder |
BEFREE |
31270878 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
30760748 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CNS disorder |
CNS Disorder |
BEFREE |
27510804 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
39303318 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital adrenal hyperplasia due to 21 hydroxylase deficiency |
Congenital adrenal hyperplasia |
BEFREE |
16010485 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
28213122, 30796110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
23634718 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
26762690 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
30210049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fabry Disease |
Fabry disease |
BEFREE |
18062719, 22052522, 25468650 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fabry Disease |
Fabry disease |
Pubtator |
22052522 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fragile X Syndrome |
Fragile X Syndrome |
BEFREE |
17506108, 23634718 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gaucher Disease |
Gaucher disease |
Pubtator |
35568060 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized glycogen storage disease of infants |
Glycogen Storage Disease |
BEFREE |
29966168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
23634718 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen storage disease type II |
Glycogen Storage Disease |
BEFREE |
29966168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart valve disease |
Cardiac valvular disease |
BEFREE |
28334757 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemophilia B |
Hemophilia b |
Pubtator |
30264515 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hunter`s syndrome, mild form |
Hunter`s Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hunter`s syndrome, severe form |
Hunter`s Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercalcemia |
Hypercalcemia |
BEFREE |
30376845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPERPARATHYROIDISM, NEONATAL SEVERE |
Hyperparathyroidism |
BEFREE |
30376845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyosis, X-Linked |
Ichthyosis |
BEFREE |
29397290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
30409228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
17506108, 31757021 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Pseudo-Obstruction |
Intestinal Pseudoobstruction |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy, Metachromatic |
Metachromatic Leukodystrophy |
BEFREE |
29397290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long narrow head |
Dolichocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
CTD_human_DG |
27935865 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
31574977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
CTD_human_DG |
27935865 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
31574977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
28213122, 30796110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
17506108 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucolipidoses |
Mucolipidosis |
BEFREE |
23622395 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis I |
Mucopolysaccharidosis |
Pubtator |
31046699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
BEFREE |
10215411, 10220152, 10220258, 10500241, 10671065, 10737977, 11462244, 11731225, 12516048, 12579417, 12655569, 12794697, 1283150, 1303177, 1303211, 1352274, 1355630, 15500445, 15832315, 15909065, 16133661, 1639384, 16480701, 16495038, 16505002, 16617305, 16699754, 17063374, 17091340, 1733863, 17459751, 17616540, 17657858, 17876721, 18174963, 18331837, 18500569, 18580692, 18675343, 1901826, 19679226, 19901005, 20104590, 20652491, 21108396, 21291454, 21319344, 21334454, 21415080, 21605424, 21706504, 21829674, 21910981, 22052522, 22105882, 22190500, 22227323, 22279584, 22492741, 22622771, 23232253, 23375472, 23622395, 23634718, 23707223, 23726270, 23800320, 23867855, 24083598, 24125893, 24780617, 26297117, 26762690, 26897145, 27246110, 27512952, 27789394, 27789398, 27789399, 28011272, 28243577, 28334757, 28401457, 28464912, 28588666, 28593992, 28610913, 28860717, 28918469, 29168031, 29289480, 29606503, 29618310, 29633336, 29648648, 30024503, 30042467, 30064964, 30191159, 30409228, 30595526, 30639582, 30994022, 31022913, 31029429, 31039347, 31046699, 31071499, 7581397, 7633410, 7814022, 7845883, 7887413, 7981716, 8244397, 8265633, 8281149, 8370574, 8528670, 8530090, 8566953, 8807335, 8835216, 8870917, 8940265, 9097969, 9244428, 9375851, 9482575, 9501270, 9712538, 9801874, 9875019, 9921913, 9950361 View all (120 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
UNIPROT_DG |
10215411, 10220152, 10447264, 10671065, 10838181, 11015461, 11683780, 11731225, 12655569, 12794697, 1284597, 1303211, 16699754, 7581397, 7599640, 7728156, 7866405, 7887413, 7981716, 8281149, 8566953, 8664909, 8830188, 8940265, 9222763, 9266380, 9375851, 9452044, 9501270, 9660053, 9762601, 9875019, 9921913, 9950361 View all (19 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
Pubtator |
10580346, 17657858, 21605424, 21829674, 22052522, 23634718, 23800320, 25902842, 27187040, 27789394, 27789398, 27789399, 28077157, 28593992, 30042467, 31039347, 31046699, 31877959, 32448126, 32508845, 33290290, 33676511, 34193122, 34670126, 35759972, 35916809, 36982718, 37357221, 37506513, 38241811, 39303318, 39793273, 39978165, 7887413, 8097259, 8265633, 8370574, 8717057, 8940265, 9875019, 9950361 View all (26 more) |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
CLINVAR_DG |
10814710, 11683780, 1284597, 1303211, 14728992, 15614569, 16133661, 1639384, 16480701, 17063374, 17284421, 17391447, 18500569, 21291454, 21829674, 22990955, 24125893, 24268528, 24780617, 25681085, 26407519, 26693516, 26762690, 27146977, 27246110, 27351199, 27896113, 28077157, 7581397, 7728156, 7887413, 8364592, 8829647, 8830188, 8940265, 9222763, 9266380, 9573369, 9660053, 9875019, 9950361 View all (26 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
CLINGEN_DG |
12794697, 1639384, 16505002, 27246110, 28207863, 8940265, 9501270, 9950361 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
GENOMICS_ENGLAND_DG |
15314824, 27604308, 8364592 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
LHGDN |
15909065, 16133661, 16617305 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
Pubtator |
23537841, 23988379, 24550654, 34031351, 34990619, 39978289 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis II |
Mucopolysaccharidosis |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis III |
Mucopolysaccharidosis |
BEFREE |
14608657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis IV |
Mucopolysaccharidosis |
BEFREE |
14608657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis type 2, attenuated form |
Mucopolysaccharidosis |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis type 2, severe form |
Mucopolysaccharidosis |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Mucopolysaccharidosis Type IIIA |
Mucopolysaccharidosis |
BEFREE |
14608657, 19690584, 29046964, 29779903, 31615002 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mucopolysaccharidosis VI |
Mucopolysaccharidosis |
BEFREE |
14608657, 31452203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis, MPS-IV-A |
Mucopolysaccharidosis |
BEFREE |
14608657, 18546277, 26740238, 28065440, 29326871, 29779903, 30442189, 30848093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocarditis |
Myocarditis |
BEFREE |
19287341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29369188, 31574977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
28077157 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
29606503 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus Pathologic |
Nystagmus |
Pubtator |
32157568 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
10487839 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
BEFREE |
26762690 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papilledema |
Papilledema |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paramyotonia Congenita (disorder) |
Paramyotonia Congenita |
BEFREE |
20038812 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
24189015 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PAROXYSMAL EXTREME PAIN DISORDER |
Paroxysmal extreme pain disorder |
BEFREE |
20038812 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pfaundler-Hurler Syndrome |
Pfaundler-Hurler Syndrome |
BEFREE |
10587981, 14608657, 27146977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pfaundler-Hurler Syndrome |
Pfaundler-Hurler Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Placental Steroid Sulfatase Deficiency |
Placental Steroid Sulfatase Deficiency |
BEFREE |
29397290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Stress Disorder |
Stress Disorder |
BEFREE |
28656585 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
30760748 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Recurrent otitis media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scaphycephaly |
Scaphocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
36982718 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea Syndromes |
Sleep Apnea |
BEFREE |
6644438 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Obstructive |
Sleep Apnea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Disorders |
Sleep Disorders |
BEFREE |
30442188 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stroke |
Stroke |
Pubtator |
22052522 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sulfoiduronate Sulfatase Deficiency |
Sulfoiduronate Sulfatase Deficiency |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SVEINSSON CHORIORETINAL ATROPHY |
Sveinsson Chorioretinal Atrophy |
BEFREE |
10901592 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tracheobronchomalacia |
Tracheobronchomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
18387780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Turner Syndrome |
Turner syndrome |
Pubtator |
31046699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular arrhythmia |
Ventricular arrhythmia |
BEFREE |
24112685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked centronuclear myopathy |
Centronuclear Myopathy, X-Linked |
BEFREE |
8678976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |