| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute leukemia |
Leukemia |
BEFREE |
16276527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
27437869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
25826333 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alport Syndrome |
Alport Syndrome |
CTD_human_DG |
10973259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alport Syndrome |
Alport Syndrome |
BEFREE |
12819239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alport Syndrome, Autosomal Dominant |
Alport Syndrome |
CTD_human_DG |
10973259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alport Syndrome, Autosomal Recessive |
Alport Syndrome |
CTD_human_DG |
10973259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alport Syndrome, X-Linked |
Alport Syndrome, X-Linked |
CTD_human_DG |
10973259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alport Syndrome, X-Linked |
Alport Syndrome, X-Linked |
BEFREE |
23144074 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
30872628 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
30872628 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Andersen Syndrome |
Andersen Syndrome |
BEFREE |
23144074 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Sickle Cell |
Sickle cell anemia |
Pubtator |
21910715 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Sickle Cell |
Anemia |
BEFREE |
21910715, 26147622 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anodontia |
Anodontia |
Pubtator |
20124285 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
BEFREE |
30583228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
30583228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Appendicitis |
Appendicitis |
BEFREE |
26446054 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ARTERIAL TORTUOSITY SYNDROME |
Arterial Tortuosity Syndrome |
BEFREE |
23144074 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
21429915 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthenozoospermia |
Asthenozoospermia |
Pubtator |
38099337 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
21429915 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
23122533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant macrothrombocytopenia |
Macrothrombocytopenia |
BEFREE |
11159552, 11776386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant non-syndromic sensorineural deafness type DFNA |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bernard Soulier Syndrome |
Bernard-soulier syndrome |
Pubtator |
20635188, 27291889 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bernard-Soulier Syndrome |
Bernard Soulier Syndrome |
BEFREE |
14635206, 18278172, 20635188 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar disorder |
Pubtator |
35821008 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Exstrophy |
Bladder exstrophy |
Pubtator |
34355505 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood Coagulation Disorders |
BEFREE |
17655694 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood coagulation disorder |
Pubtator |
33962937 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Platelet Disorders |
Platelet-type bleeding disorder |
BEFREE |
11935325, 16044442, 16098078, 19408192, 19645626, 26247237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Platelet Disorders |
Platelet disorder |
Pubtator |
16044442, 16098078, 23382103, 26247237, 33649034, 35064207, 36404341, 40685626 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
18796164, 21782877, 22623409, 30258071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
CTD_human_DG |
28650484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
22722193, 29953877, 30258071, 34450253, 37200287 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Capillary malformation (disorder) |
Capillary malformation |
BEFREE |
23122533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
29903892, 34743203 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
35414777, 36374212, 37069693 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
23713811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
35650603 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
31423165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carotid Artery Thrombosis |
Carotid artery thrombosis |
Pubtator |
26247237 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carotid Artery Thrombosis |
Carotid Artery Thrombosis |
BEFREE |
28539835 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
10973259, 16162639, 16596254, 17975807, 19645626 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
17975807, 19557653, 20807613, 24186861, 24890873, 26247237, 29782633, 29996171, 31977897, 38042490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
GENOMICS_ENGLAND_DG |
22627578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular Disorders |
Cerebrovascular Disorders |
BEFREE |
25730040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic kidney disease stage 5 |
Kidney Disease |
BEFREE |
18794854, 19177153, 19567477, 19838113, 20124285, 20144966, 20492585, 20532800, 20635188, 21074826, 21245129, 21698141, 21849968, 21910715, 21968013, 22541678, 23470845, 24186861, 24551085, 26343748 View all (5 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
19726116, 19921264, 20588287, 21071974, 21216884, 21402784, 21429915, 21537348, 22956460, 23285077, 23470845, 23516419, 26152646, 27924804, 29665793, 29679756, 30340464 View all (2 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic otitis media |
Otitis media |
BEFREE |
23940247 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip with or without Cleft Palate |
Cleft Lip With Or Without Cleft Palate |
BEFREE |
19320731, 19891592 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
30854093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
32413870, 36345155 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital cataract |
Congenital Cataract |
BEFREE |
29200148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital thrombocytopenia |
Congenital thrombocytopenia |
BEFREE |
28594466, 29286575 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital thrombocytopenia |
Congenital thrombocytopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
27634189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostoses |
Craniosynostosis |
Pubtator |
39202364 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
11590545, 17975807, 19557653, 24186861, 24890873, 36282680, 38042490 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| DEAFNESS, AUTOSOMAL DOMINANT 17 |
Deafness |
CTD_human_DG |
10973259, 11590545, 12621333 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT 17 |
Deafness |
BEFREE |
11023810 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT 17 |
Deafness |
UNIPROT_DG |
11023810 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT 17 |
Deafness |
CLINVAR_DG |
11752022, 16969870, 23409987, 24186861, 26226608 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT 17 |
Deafness |
GENOMICS_ENGLAND_DG |
25077172, 9390828 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, autosomal dominant nonsyndromic sensorineural 17 |
Deafness, Nonsyndromic Sensorineural |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deep Vein Thrombosis |
Thrombosis |
BEFREE |
23037321 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
18923054, 23285077 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
18923054, 23285077 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
20144966, 21074826, 21454968, 22956460, 23285077, 36837510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
19567477, 21698141, 26634513 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
19567477, 21074826, 21849968, 24551085, 25730040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathies |
Diabetic neuropathy |
Pubtator |
21968013, 22956460, 24658608, 29862302, 34946941 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
20347641, 21074826, 21429915, 21968013, 22956460, 24011553, 29862302, 31118506 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetic Nephropathy |
Diabetic Nephropathy |
GWASDB_DG |
21150874 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetic Nephropathy |
Diabetic Nephropathy |
GWASCAT_DG |
26305897 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
BEFREE |
16098078, 19557653 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectodermal Dysplasia |
Ectodermal dysplasia |
Pubtator |
29903892 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilia |
Eosinophilia |
BEFREE |
16276527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
31423165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epstein syndrome (disorder) |
Epstein syndrome |
BEFREE |
11590545, 11935325, 17241369, 17655694, 19839854, 29532554 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epstein syndrome (disorder) |
Epstein syndrome |
CLINGEN_DG |
15339844, 16162639, 16630581, 16862555, 17146397, 21542825, 21908426, 23976996, 24890873, 25505834, 9390828 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
25605255, 32788880 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial hematuria |
Hematuria |
BEFREE |
23516419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fechtner syndrome (disorder) |
Fechtner syndrome |
BEFREE |
11935325, 12500226, 12649151, 17655694, 20200500, 22886561, 23144074 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fechtner syndrome (disorder) |
Fechtner syndrome |
CLINGEN_DG |
15339844, 16162639, 16630581, 16862555, 17146397, 21542825, 21908426, 23976996, 24890873, 25505834, 9390828 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal glomerulosclerosis |
Glomerulosclerosis |
BEFREE |
12819239, 18794856, 19153477, 19177153, 19567477, 19726116, 19764949, 19838113, 20051853, 20124285, 20200500, 20347641, 20668430, 21074826, 21402784, 21910715, 21968013, 21997397, 22614628, 22791322 View all (5 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Focal glomerulosclerosis |
Glomerulosclerosis |
LHGDN |
18794856 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Focal glomerulosclerosis |
Glomerulosclerosis |
CTD_human_DG |
18794856 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Focal Segmental Glomerulosclerosis, Not Otherwise Specified |
Focal segmental glomerulosclerosis |
BEFREE |
20124285, 21997397 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frasier Syndrome |
Fraser syndrome |
Pubtator |
16098078 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Giant Platelet Syndrome with Thrombocytopenia |
Giant Platelet Syndrome With Thrombocytopenia |
CLINGEN_DG |
15339844, 16162639, 16630581, 16862555, 17146397, 21542825, 21908426, 23976996, 24890873, 25505834, 9390828 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
34887392 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulonephritis |
Glomerulonephritis |
BEFREE |
16162639, 16596254, 20601875 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Glomerulonephritis |
Glomerulonephritis |
Pubtator |
19177153, 24890873 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Glomerulosclerosis (disorder) |
Glomerulosclerosis |
BEFREE |
20005488, 20051853, 20688934, 21074826, 21402784, 22956460 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis Focal Segmental |
Focal segmental glomerulosclerosis |
Pubtator |
18794856, 19177153, 19764949, 20124285, 20200500, 20523037, 20668430, 21910715, 21968013, 22791322, 22956460 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graft vs Host Disease |
Graft-versus-host disease |
Pubtator |
33882342 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graft-vs-Host Disease |
Graft-Vs-Host Disease |
BEFREE |
13680298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gray Platelet Syndrome |
Gray Platelet Syndrome |
BEFREE |
15477207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Carcinoma |
Head And Neck Carcinoma |
BEFREE |
28160562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
28160562, 36139430 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Disorders |
Headache |
Pubtator |
20200500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
16098078, 24890873, 26247237, 30872814, 31562665, 36282680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
20807613, 23123319, 24890873, 29996171, 31977897 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss, High-Frequency |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
37092838 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| HEMANGIOMA, CAPILLARY INFANTILE |
Hemangioma |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Diseases |
Hematologic disease |
Pubtator |
36282680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematuria |
Hematuria |
Pubtator |
20200500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematuria Benign Familial |
Hematuria |
Pubtator |
23516419 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhage |
Hemorrhage |
Pubtator |
26247237, 30916803, 35064207, 36404341, 38042490 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhagic Disorders |
Hemorrhagic disease |
Pubtator |
31562665 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhagic hereditary nephritis |
Alport syndrome |
CTD_human_DG |
10973259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhoids |
Hemorrhoids |
BEFREE |
27126235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary nephritis |
Hereditary Nephritis |
CTD_human_DG |
10973259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyalinosis, Segmental Glomerular |
Glomerular Hyalinosis |
CTD_human_DG |
18794856 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
19153477, 19177153, 20124285, 20635188, 20807613, 22956460, 27924804 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
18923054, 19153477, 19177153, 19567477, 19838113, 20051853, 20124285, 22614628, 22832513, 22956460, 27924804 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertensive disease |
Hypertension |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Idiopathic Membranous Glomerulonephritis |
Membranous Glomerulonephritis |
BEFREE |
21691125 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| IGA Glomerulonephritis |
Glomerulonephritis |
BEFREE |
21245129 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune thrombocytopenic purpura |
Immune Thrombocytopenic Purpura |
BEFREE |
23759689 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
BEFREE |
25703294 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ki-1+ Anaplastic Large Cell Lymphoma |
Anaplastic Lymphoma |
BEFREE |
12800156 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ki-1+ Anaplastic Large Cell Lymphoma |
Anaplastic Lymphoma |
LHGDN |
12800156 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
BEFREE |
11752022, 11935325, 12500226, 18923054, 19153477, 19177153, 19567477, 19764949, 19838113, 19921264, 20005488, 20051853, 20124285, 20200500, 20299374, 20347641, 20492585, 20634883, 20635188, 20688934, 20807613, 20979964, 21074826, 21402784, 21429915, 21698141, 21910715, 21968013, 21997397, 22189356, 22614628, 22832513, 22956460, 23123319, 23285077, 23397215, 23438974, 23470845, 23516419, 26226608, 26343748, 28478097, 29532554, 30471777 View all (29 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Diseases |
Kidney disease |
Pubtator |
16098078, 19567477, 19764949, 19921264, 20124285, 20200500, 20309925, 20347640, 20588287, 20634883, 20807613, 21454968, 21910715, 21968013, 22956460, 23285077, 23516419, 24186861, 24551085, 26343748, 26776194, 29782633, 29996171, 31243205, 31977897, 32873246, 35125114, 35404999, 36282680, 38042490 View all (15 more) |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Diseases |
Kidney Disease |
LHGDN |
18794854, 18794856 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Diseases |
Kidney Disease |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Failure |
Kidney Failure |
BEFREE |
15177565, 19567477, 19838113, 21071974, 21698141, 21968013, 26247237, 28594466 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure |
Kidney Failure |
GENOMICS_ENGLAND_DG |
22627578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure Chronic |
Kidney failure |
Pubtator |
18794854, 18794856, 19177153, 19567477, 20124285, 20144966, 20532800, 20635188, 20668430, 20807613, 21074826, 21698141, 21910715, 21968013, 23285077, 24186861, 24658608, 26776194, 29782633, 30212930, 32011449 View all (6 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
BEFREE |
18794854, 19177153, 19567477, 19838113, 20124285, 20144966, 20492585, 20532800, 20635188, 21074826, 21245129, 21698141, 21849968, 21910715, 21968013, 22541678, 23470845, 24186861, 24551085, 26343748 View all (5 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Failure, Chronic |
Kidney Failure |
CTD_human_DG |
18794854, 18794856 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
22898599, 27437869, 32422910, 36175877 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
16276527, 27437869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus Nephritis |
BEFREE |
22189356, 24658608 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus nephritis |
Pubtator |
22189356, 24658608 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
32788880 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrothrombocytopenia |
Macrothrombocytopenia |
BEFREE |
11590545, 11752022, 11935325, 11943476, 12621333, 15177565, 15342975, 15555549, 16162639, 16630581, 17655694, 17975807, 18192507, 19285578, 19408192, 20200500, 20588287, 20601875, 23037321, 23123319, 24165359, 24890873, 25395423, 25703294, 29286575, 29996171 View all (11 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS |
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS |
CTD_human_DG |
12621333 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development, Group II |
Malformation of cortical development |
BEFREE |
30068598 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
BEFREE |
28160562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
18796164, 21782877, 22623409, 30258071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
CTD_human_DG |
28650484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
23713811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
31358530 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
28184940, 28900514, 30613301, 31726371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of thyroid |
Thyroid cancer |
BEFREE |
28049826 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25826333, 29679756, 30739906 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Carcinoma, Human |
Marfan Syndrome |
CTD_human_DG |
28650484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
CTD_human_DG |
28650484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms, Human |
Mammary Neoplasms |
CTD_human_DG |
28650484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
26554828 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
21346779 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYH9-related disease |
MYH9-Related Disease |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
26247237 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
20532800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
31594754, 31754475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
37875476 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Alloimmune Thrombocytopenia |
Alloimmune Thrombocytopenia |
BEFREE |
29286575 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
24436421, 30739906, 31538390, 31754475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephritis |
Nephritis |
BEFREE |
10973259, 20200500, 28714588 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephritis |
Nephritis |
LHGDN |
18059020 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephritis |
Nephritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrosclerosis |
Nephrosclerosis |
BEFREE |
19153477 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrosclerosis |
Nephrosclerosis |
Pubtator |
19153477, 19177153 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
BEFREE |
19764949 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Nephrotic Syndrome |
Nephrotic syndrome |
Pubtator |
19764949, 29782633 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
37947594 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
Pubtator |
35404999 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nodular fasciitis |
Nodular Fasciitis |
ORPHANET_DG |
21826056 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nodular fasciitis |
Nodular Fasciitis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nodular fasciitis |
Nodular Fasciitis |
BEFREE |
30611632, 31538390 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
25826333 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
BEFREE |
19645626 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
36837510 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Orofacial Cleft 1 |
Orofacial cleft |
Pubtator |
18716610, 27527345 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| OROFACIAL CLEFT 1 |
Orofacial Cleft |
BEFREE |
19891592, 27527345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Other primary thrombocytopenia |
Thrombocytopenia |
CLINGEN_DG |
15339844, 16162639, 16630581, 16862555, 17146397, 21542825, 21908426, 23976996, 24890873, 25505834, 9390828 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
36929633 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
31358530 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
BEFREE |
28594466 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
28049826 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Portal Vein Thrombosis |
Portal Vein Thrombosis |
BEFREE |
23037321 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile cataract |
Presenile Cataract |
BEFREE |
22627578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile cataract |
Presenile Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
35589707, 36202978 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proteinuria |
Proteinuria |
Pubtator |
20200500, 21910715, 31243205, 32873246, 35404999 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
27634189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal glomerular disease |
Renal Glomerular Disease |
BEFREE |
20807613, 21402784, 31118506 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal hypertension |
Renal Hypertension |
CTD_human_DG |
18794856 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
29104083 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
BEFREE |
18571626, 20188514 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SEBASTIAN SYNDROME |
SEBASTIAN SYNDROME |
BEFREE |
10973259, 10973260, 11159552, 11590545, 11776386, 11935325, 11943476, 12161364, 12217806, 12649151, 15177565, 15477207, 15869600, 16596254, 16630581, 16806139, 16818291, 17241369, 17655694, 18059020, 18192507, 19408192, 19450438, 19572073, 19726116, 19839854, 20002731, 20174760, 20200500, 20603234, 20844233, 21210153, 21833445, 22477015, 22627578, 22886561, 23007341, 23123319, 23144074, 23207509, 23759689, 23940247, 24186861, 24890873, 26226608, 26446054, 29090586, 29532554, 30807393, 30916803 View all (35 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEBASTIAN SYNDROME |
SEBASTIAN SYNDROME |
CTD_human_DG |
10973259, 11590545, 12621333 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEBASTIAN SYNDROME |
SEBASTIAN SYNDROME |
CLINGEN_DG |
15339844, 16162639, 16630581, 16862555, 17146397, 21542825, 21908426, 23976996, 24890873, 25505834, 9390828 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEBASTIAN SYNDROME |
SEBASTIAN SYNDROME |
CLINVAR_DG |
31064749 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEBASTIAN SYNDROME |
SEBASTIAN SYNDROME |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SEBASTIAN SYNDROME |
SEBASTIAN SYNDROME |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizures |
Seizures |
Pubtator |
39202364 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
10973259, 16596254, 17146397, 19645626, 20807613, 23123319, 24890873, 26226608, 29996171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
GENOMICS_ENGLAND_DG |
22627578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
24436421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
31735331 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
35125114 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
28184940, 28900514, 30613301, 31726371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
28900514, 34895039 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocytopenia |
Thrombocytopenia |
Pubtator |
15869600, 16098078, 19557653, 20844233, 24890873, 29090586, 29996171, 31562665, 31977897, 33649034, 35125114, 36404341, 39202364 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| THROMBOCYTOPENIA 1 (disorder) |
Thrombocytopenia |
BEFREE |
15477207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| THROMBOCYTOPENIA 2 (disorder) |
Thrombocytopenia |
BEFREE |
19572073, 20174760, 29996171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombosis |
Thrombosis |
Pubtator |
26247237 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
28049826 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
28049826 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
28049826 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
28049826, 38165228 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tomaculous neuropathy |
Hereditary neuropathy with liability to pressure palsies |
Pubtator |
26247237, 31977897 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
31427716 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
34450253 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
39293140 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |