| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
24731980 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aneurysm |
Aneurysm |
Pubtator |
34680863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Diseases |
Aortic disease |
Pubtator |
31818681, 37012328 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aphasia |
Aphasia |
Pubtator |
34913393 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arterial Occlusive Diseases |
Arterial occlusive disease |
Pubtator |
29165136, 30925911, 30992731, 32182997, 32954918, 33568546, 36611871 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
27507861, 29567577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
27507861, 29567577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
31590595, 33055470, 34955493, 37137523 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Infarction |
Brain infarction |
Pubtator |
37137523 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Ischemia |
Brain ischemia |
Pubtator |
29160859 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| CADASIL Syndrome |
CADASIL Syndrome |
BEFREE |
29500468 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
29556353, 34288818 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
28679692 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
33112109, 34980126 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
39868517 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carotid Artery Diseases |
Carotid artery disease |
Pubtator |
34680863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carotid Stenosis |
Carotid artery stenosis |
Pubtator |
26198278, 31818681, 33482763, 34680863, 34773068 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Catatonia |
Catatonia |
BEFREE |
30564539 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Amyloid Angiopathy |
Cerebral amyloid angiopathy |
Pubtator |
26198278, 31818681 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Hemorrhage |
Cerebral hemorrhage |
Pubtator |
36580209 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Cerebral Infarction |
BEFREE |
28734662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Ischemic stroke |
Pubtator |
31818681, 33370357, 33482763, 39191959 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Palsy |
Cerebral palsy |
Pubtator |
38141320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Small Vessel Diseases |
Cerebral microangiopathy |
Pubtator |
40300577 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
27462098, 30355208, 31060437 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebrovascular Disorders |
Cerebrovascular Disorders |
BEFREE |
26530008, 27736983, 28506590, 28797616, 29718794, 30671466 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular Disorders |
Cerebrovascular disorder |
Pubtator |
28931766, 32367296, 35135845, 39531151, 39868517 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
30283986 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chorea |
Chorea |
Pubtator |
33482763 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip |
Cleft lip |
Pubtator |
35385219 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Common Carotid Artery Stenosis |
Common Carotid Artery Stenosis |
BEFREE |
29483617 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
BEFREE |
28414759 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
28414759 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
38115307 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
28414759 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
Pubtator |
28600779 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
30564539 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive Disorder |
Major depressive disorder |
Pubtator |
40300577 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
26125557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
26125557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
26125557 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dissection of aorta |
Aortic dissection |
BEFREE |
30341550 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
BEFREE |
25547042 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down syndrome |
Pubtator |
39367156 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinesias |
Dyskinesia |
Pubtator |
33482763 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial cerebral cavernous malformation |
Cerebral cavernous malformation |
Pubtator |
36580209 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibromuscular Dysplasia |
Fibromuscular Dysplasia |
BEFREE |
26147384, 28497183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Headache |
Headache |
Pubtator |
31818681 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
35385219 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
BEFREE |
28686325 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hematoma |
Hematoma |
Pubtator |
40225941 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhage |
Hemorrhage |
Pubtator |
23110205, 29160859 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperhomocysteinemia |
Hyperhomocysteinemia |
Pubtator |
40225941 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemias |
Hyperlipidemia |
Pubtator |
40225941 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
31815282 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertension Pulmonary |
Pulmonary hypertension |
Pubtator |
39868517 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
28320162, 29718794, 31815282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperthyroidism |
Hyperthyroidism |
BEFREE |
30922903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
31542298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
28600779 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Aneurysm |
Intracranial Aneurysm |
BEFREE |
27745834, 30671466 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Aneurysm |
Intracranial aneurysm |
Pubtator |
27745834, 34680863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Embolism |
Intracranial embolism |
Pubtator |
34913393 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic Attack Transient |
Transient ischemic attack |
Pubtator |
33370357, 37137523 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic stroke |
Ischemic Stroke |
BEFREE |
31060437 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ki-1+ Anaplastic Large Cell Lymphoma |
Anaplastic Lymphoma |
BEFREE |
12112524 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
33960657 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
33112109 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh syndrome |
Pubtator |
37924258 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh syndrome French Canadian type |
Leigh syndrome |
Pubtator |
27745834 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy Familial Partial |
Lipodystrophy |
Pubtator |
33055470 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
33200540 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
28659337 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Depression |
Mental Depression |
BEFREE |
30564539 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
32429658 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
GWASCAT_DG |
27182965, 27322543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya Disease |
Moyamoya Disease |
BEFREE |
21048783, 21799892, 22377813, 22688066, 22878964, 22931863, 23010677, 23110205, 23466837, 23769926, 23850618, 23970789, 23994138, 24658080, 25093848, 25278557, 25503250, 25547042, 25817623, 25956231, 25964206, 26126547, 26147384, 26198278, 26277359, 26278786, 26315378, 26430847, 26530008, 26590131, 26756907, 26847828, 26849809, 27128593, 27253870, 27365075, 27462098, 27476341, 27507861, 27515544, 27717682, 27736983, 27745834, 27748344, 27789153, 28063898, 28153617, 28276505, 28320162, 28414759, 28497183, 28506590, 28617845, 28635953, 28686325, 28734662, 28797616, 28931766, 28962888, 29160859, 29165136, 29165161, 29174692, 29483617, 29567577, 29718794, 29752070, 30001348, 30001370, 30157848, 30283986, 30355208, 30564539, 30671466, 30846318, 30922903, 31037424, 31060437, 31197213, 31290353, 31347299, 31590595, 31650369, 31658621, 31806452 View all (70 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Moyamoya Disease |
Moyamoya Disease |
ORPHANET_DG |
21048783, 21799892, 22377813 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Moyamoya Disease |
Moyamoya Disease |
GWASCAT_DG |
21048783, 29273593 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Moyamoya Disease |
Moyamoya Disease |
GWASDB_DG |
21048783 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Moyamoya disease |
Moyamoya Disease |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Moyamoya Disease |
Moyamoya disease |
Pubtator |
22688066, 23110205, 24658080, 25093848, 25876583, 25964206, 26125557, 26198278, 26530418, 26590131, 27253870, 27365075, 27736983, 27745834, 28276505, 28497183, 28617845, 28635953, 28931766, 29160859, 29165136, 30001348, 30001370, 30157848, 30846318, 30992731, 31197213, 31347299, 31590595, 31818681, 31949090, 32139119, 32182997, 32686731, 32954918, 33055470, 33356381, 33370357, 33452387, 33482763, 33568546, 33960657, 34013582, 34680863, 34710878, 34773068, 34858321, 34913393, 35128622, 35135845, 35430511, 35500358, 35640559, 35876407, 36424438, 36497052, 36611871, 36843178, 37166684, 37924258, 38057092, 38115307, 38141320, 38573771, 39191959, 39367156, 39868517, 40028855, 40225941, 40301050, 40682695 View all (56 more) |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Moyamoya disease 1 |
Moyamoya disease |
BEFREE |
21048783, 21799892, 22377813, 22688066, 22878964, 22931863, 23010677, 23110205, 23466837, 23769926, 23850618, 23970789, 23994138, 24658080, 25093848, 25278557, 25503250, 25547042, 25817623, 25956231, 25964206, 26126547, 26147384, 26198278, 26277359, 26278786, 26315378, 26430847, 26530008, 26590131, 26756907, 26847828, 26849809, 27128593, 27253870, 27365075, 27462098, 27476341, 27507861, 27515544, 27717682, 27736983, 27745834, 27748344, 27789153, 28063898, 28153617, 28276505, 28320162, 28414759, 28497183, 28506590, 28617845, 28734662, 28797616, 28931766, 28962888, 29160859, 29165136, 29174692, 29483617, 29718794, 29752070, 30001348, 30001370, 30157848, 30283986, 30355208, 30564539, 30671466, 30922903, 31060437, 31197213, 31290353, 31347299, 31590595, 31650369, 31658621, 31806452 View all (64 more) |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Moyamoya disease 1 |
Moyamoya disease |
GWASCAT_DG |
21048783, 29273593 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Moyamoya disease 1 |
Moyamoya disease |
ORPHANET_DG |
21048783, 21799892, 22377813 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Moyamoya disease 1 |
Moyamoya disease |
Pubtator |
27736983, 28635953, 37012328 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| MOYAMOYA DISEASE 2 |
Moyamoya Disease |
UNIPROT_DG |
21048783, 21799892, 23110205, 23994138, 25278557, 25956231, 26126547, 26198278, 27736983 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MOYAMOYA DISEASE 2 |
Moyamoya Disease |
CLINVAR_DG |
25278557 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Moyamoya disease 2 |
Moyamoya disease |
Pubtator |
34573383 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MOYAMOYA DISEASE 2 |
Moyamoya Disease |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
31170158, 34584155 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy Duchenne |
Duchenne muscular dystrophy |
Pubtator |
31347299 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy, Duchenne |
Duchenne Muscular Dystrophy |
BEFREE |
31347299 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
23151810 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
40682695 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck Neoplasms |
Neck Neoplasms |
BEFREE |
26395002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
27323329 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatosis 1 |
Neurofibromatosis |
BEFREE |
26849809 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuromuscular Diseases |
Neuromuscular disease |
Pubtator |
31347299 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral pulmonary artery stenosis |
Peripheral pulmonary artery stenosis |
BEFREE |
31542298, 31650369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Vascular Diseases |
Peripheral vascular disease |
Pubtator |
37137523 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
31542298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Arterial Hypertension |
Pulmonary arterial hypertension |
Pubtator |
34710878 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Artery Stenosis |
Renal Artery Stenosis |
BEFREE |
31650369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
35568949 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizures |
Seizures |
Pubtator |
26198278 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
33960657 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Splenic Hypoplasia |
Splenic Hypoplasia |
BEFREE |
27253870 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
36484990 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stroke |
Stroke |
Pubtator |
26125557, 32106772, 34955493, 36580209, 37012328, 37137523, 37924258, 40225941 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tauopathies |
Tauopathies |
BEFREE |
30696811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid cancer medullary |
Medullary thyroid cancer |
Pubtator |
34858321 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
32718341 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular Diseases |
BEFREE |
25547042, 28635953, 28686325, 28962888, 29718794, 29752070, 30922903, 31037424, 31542298, 31590588, 31650369, 31818681 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
29483232, 33055470, 34710878, 34773068, 38573771 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular System Injuries |
Vascular system injury |
Pubtator |
34680863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Williams Syndrome |
Williams syndrome |
Pubtator |
35640559 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |