| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Accessory kidney |
Accessory Kidney |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
18354269, 22988987, 23153538, 23285131, 30631148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
28613211 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
22104449, 23771907, 28465645 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of large intestine |
Colorectal Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
23593420, 25978653, 27852699 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
27440078 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
18354269, 22988987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Medulloblastoma |
Medulloblastoma |
BEFREE |
23278988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
BEFREE |
21060049, 21998696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Allergic rhinitis (disorder) |
Allergic rhinitis |
GWASCAT_DG |
30013184 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Allergic rhinitis (disorder) |
Allergic rhinitis |
BEFREE |
31340215 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
GWASCAT_DG |
28196072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alveolitis Extrinsic Allergic |
Extrinsic allergic alveolitis |
Pubtator |
32951408 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
31283791 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Androgen Insensitivity Syndrome |
Androgen insensitivity syndrome |
Pubtator |
26196693 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ankyloglossia |
Ankyloglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANONYCHIA |
Anonychia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
26259918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
29073752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
27925372, 30957191 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
31636631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
25430993, 26359667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
CLINVAR_DG |
31680123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
GWASCAT_DG |
20860503, 27130862, 27182965, 29273806, 30552067, 30787307, 30929738, 31619474 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Asthma |
Asthma |
GWASDB_DG |
20860503, 21907864, 22561531 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Asthma |
Asthma |
Pubtator |
23028483, 24260339, 25863981 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Asthma |
Asthma |
BEFREE |
29282706, 30539779 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atherosclerosis |
Atherosclerosis |
LHGDN |
15781255 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
27925372, 30957191 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
24500708 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorder |
Autism |
Pubtator |
37673435 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
26625251, 28608249 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
CTD_human_DG |
20375269, 21359227 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
Pubtator |
20375269 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
Pubtator |
21359227, 24204716, 24500708, 25668517, 29423132, 37108679 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
BEFREE |
29656859 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
30189901 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive Robinow syndrome |
Robinow Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Azoospermia |
Azoospermia |
Pubtator |
40215689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-CELL MALIGNANCY, LOW-GRADE |
Lymphocytic Leukemia |
BEFREE |
18354269, 18604725 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal Cell Nevus Syndrome |
Basal Cell Neoplasm |
BEFREE |
12548386, 17632781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Benign Prostatic Hyperplasia |
Benign Prostatic Hyperplasia |
BEFREE |
30251751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar disorder |
Pubtator |
19488044, 21494683, 25789810, 25989161, 30178121 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bipolar Disorder |
Bipolar Disorder |
PSYGENET_DG |
20072116, 21494683, 22538398, 24150227, 24716566 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bipolar Disorder |
Bipolar Disorder |
BEFREE |
22538398, 24716566, 25789810, 30178121 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Blast Crisis |
Blast crisis |
Pubtator |
33836616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone Disease |
BEFREE |
21480365, 22781592 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
BEFREE |
12011143, 17632781, 18353862, 19640924, 21693067, 31798639 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
Pubtator |
21693067, 36064339 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly syndrome type B |
Brachydactyly |
ORPHANET_DG |
10700182, 10986040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly Type B1 |
Brachydactyly |
Pubtator |
10986040, 17668388, 36064339 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly type B1 |
Brachydactyly |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BRACHYDACTYLY, TYPE B1 |
Brachydactyly |
BEFREE |
10932186, 10932187, 10986040, 11932993, 17061261, 17665217, 18353862, 19146779, 19236432, 19461659, 19530173, 19640924, 23142633, 24954533, 28236965, 30801848 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BRACHYDACTYLY, TYPE B1 |
Brachydactyly |
GENOMICS_ENGLAND_DG |
19461659, 19533773 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BRACHYDACTYLY, TYPE B1 |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BRACHYDACTYLY, TYPE B1 |
Brachydactyly |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BRACHYDACTYLY, TYPE B1 |
Brachydactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BRACHYDACTYLY, TYPE B2 (disorder) |
Brachydactyly |
BEFREE |
24954533, 28523267 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast adenocarcinoma |
Breast Adenocarcinoma |
BEFREE |
22403610 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
23593420, 23771907, 24919398, 26874851, 28114269, 28177907, 28695110, 29455641, 29774072, 29904382, 30622177, 31085100, 31358835, 31364167, 31415244 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
CTD_human_DG |
28114269 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
19439415, 21167036, 23443091, 23593420, 25209439, 28598825, 31085100, 31358835, 32020017, 34911552, 35605663, 36001375, 37029329, 39193850 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
28052040 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
21818335 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
22293903, 24158497, 36359790 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
19448672, 24158497, 26739507 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
Pubtator |
27852699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
21818335, 30637779, 31746401, 34745328, 36114756, 37814183 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
22493546, 24798975 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
18215320, 29455641, 31174180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
26515598 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
28475014 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
26259918, 34565024, 34763666, 37096681 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
20185829, 23893409, 33804101, 35812454 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
23922987 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
35603384 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
26515598, 26575700, 27852699, 28342318, 28475014, 28536612, 29348860, 31008116 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Pancreatic Ductal |
Pancreatic Ductal Carcinoma |
BEFREE |
28454387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
37542143 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
27925372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
GWASCAT_DG |
30595370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
BEFREE |
16539693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar diseases |
Pubtator |
39707840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
18354269, 22988987, 23285131 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood asthma |
Asthma |
GWASCAT_DG |
30929738, 31036433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Medulloblastoma |
Medulloblastoma |
BEFREE |
23278988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choriocarcinoma |
Choriocarcinoma |
LHGDN |
16632463 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
LHGDN |
18223214, 18287027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
18287027, 18354269, 18546292, 18604725, 20686606, 20813009, 21481194, 21813176, 22988987, 23593420, 24205204, 26690702, 27086035, 27815263, 27904138, 28408486, 28465528, 28465529, 28731148, 28923920, 29122990, 29849118, 29859176, 29872501, 31151986, 31409670, 31645416 View all (12 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
24943193, 30355907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic otitis media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronobiology Disorders |
Chronobiology disorder |
Pubtator |
32892507 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip |
Cleft lip |
Pubtator |
22490406, 34061439 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip with or without Cleft Palate |
Cleft Lip With Or Without Cleft Palate |
BEFREE |
22490406 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Palate |
Cleft palate |
Pubtator |
22490406 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
28412756 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
21305677 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
16211313 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
28557546, 35116071 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
36704936 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
27301432, 27440078, 27631337, 29395309, 29968159, 30907503 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
20122401, 20591152, 27301432, 28427197, 29453334, 30907503, 31486489, 31693094, 32096171 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
27440078 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
BEFREE |
29968159 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complete atrioventricular block |
Complete Atrioventricular Block |
BEFREE |
23043388 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of uvula |
Absent uvula |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital fusion of ribs |
Rib fusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hand Deformities |
Congenital anomaly of the hand |
BEFREE |
30143665 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
BEFREE |
26035863 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital sensorineural hearing loss |
Congenital Sensorineural Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
19448672, 20185829, 25542006 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
35934844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniocerebral Trauma |
Craniocerebral trauma |
Pubtator |
35344616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cushing's symphalangism |
Proximal symphalangism |
Pubtator |
17668388 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous Melanoma |
Melanoma |
BEFREE |
29313974 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE 108 |
Deafness |
GENOMICS_ENGLAND_DG |
27162350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE 108 |
Deafness |
UNIPROT_DG |
27162350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Defect of vertebral segmentation |
Abnormal spinal segmentation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
22057548 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
19693801, 20800221, 22538398, 29073752 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Depressive disorder |
Mental Depression |
PSYGENET_DG |
19693801, 20800221, 22538398 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Depressive Disorder |
Major depressive disorder |
Pubtator |
25668517 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dermatitis, Atopic |
Dermatitis |
BEFREE |
31226136 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
23922987, 28774591 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
39707840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
21090593 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathies |
Diabetic neuropathy |
Pubtator |
29194733 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
22988987, 30801854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
LHGDN |
15781255 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectopia Lentis |
Ectopia lentis |
Pubtator |
24940037 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectopic anus |
Ectopic anus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
GWASCAT_DG |
30595370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
BEFREE |
31226136 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalitis |
Encephalitis |
Pubtator |
21061152 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
29395309, 30093563 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
32170852, 32807831, 34115460, 36708573, 37241228 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
25668517, 29656859 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
25668517, 39707840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy Generalized |
Generalized epilepsy |
Pubtator |
39707840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
26515598, 28342318, 29348860 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelioma |
Epithelioma |
BEFREE |
27852699 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
32503923 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ewings sarcoma |
Ewing sarcoma |
BEFREE |
26173023 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exudative age-related macular degeneration |
Exudative Macular Degeneration |
BEFREE |
21060049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eyelid Diseases |
Eyelid disease |
Pubtator |
39707840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
29167529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibromatosis, Aggressive |
Fibromatosis |
BEFREE |
22294416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosarcoma |
Fibrosarcoma |
BEFREE |
26173023 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fingernail dysplasia |
Fingernail dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
BEFREE |
22294416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
Pubtator |
34646884 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioblastoma |
Glioblastoma |
BEFREE |
25301448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
36314076 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
25301448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
28177907 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
Pubtator |
34479497, 36314076 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease Type II |
Glycogen storage disease |
Pubtator |
19786043 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
35344616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hashimoto Disease |
Hashimoto disease |
Pubtator |
28690889 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Carcinoma |
Head And Neck Carcinoma |
BEFREE |
29884837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
29884837 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
32951408 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects Ventricular |
Congenital heart septal defect |
Pubtator |
10986040 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
22988987, 25978653, 28328317, 29989208 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic neoplasm |
Pubtator |
25978653, 28328317 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemoglobin SC Disease |
Hemoglobin sc disease |
Pubtator |
28465645 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis B |
Hepatitis b |
Pubtator |
20702778 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Diffuse Gastric Cancer |
Gastric Cancer |
CTD_human_DG |
16367923 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperalgesia |
Hyperalgesia |
Pubtator |
35040478 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperostosis Diffuse Idiopathic Skeletal |
Diffuse idiopathic skeletal hyperostosis |
Pubtator |
37156767 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperthyroidism |
Hyperthyroidism |
Pubtator |
25550791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
9564842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
11821045, 36314076 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
31287590 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
33174051 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
Pubtator |
32951408, 33925174 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
11252722 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
BEFREE |
23771907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
UNIPROT_DG |
29656859 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
GENOMICS_ENGLAND_DG |
29656859 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Mental retardation |
BEFREE |
29656859, 30466987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
29656859 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
39707840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic cardiomyopathy |
Ischemic myocardial dysfunction |
BEFREE |
30342492 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Jarcho-Levin syndrome |
Jarcho-Levin Syndrome |
BEFREE |
10986040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
35618095 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Acute |
Kidney Failure |
BEFREE |
30673513 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
21079657, 23893409 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| LATERAL MENINGOCELE SYNDROME |
Lateral Meningocele Syndrome |
BEFREE |
22294416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leiomyosarcoma |
Leiomyosarcoma |
BEFREE |
22294416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leiomyosarcoma |
Leiomyosarcoma |
Pubtator |
30518396 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leiomyosarcoma |
Leiomyosarcoma |
Pubtator |
30518396 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
18287027, 26690702, 26739507, 27815263, 8875995 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
26739507, 27815263, 28923920, 29859176, 30568170 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LIMB-MAMMARY SYNDROME |
Limb-Mammary Syndrome |
BEFREE |
22294416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
22493546, 23211525, 30637779, 30832318 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
BEFREE |
23043388 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
18215320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
35078435 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
25755786, 27830754, 28427197, 31929567, 34599596 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
26259918, 34931925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
26608372 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
30801854, 8875995 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Follicular |
Lymphoma |
BEFREE |
22988987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin |
Non-Hodgkin lymphoma |
BEFREE |
28177907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin, Familial |
Lymphoma |
BEFREE |
28177907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Machado-Joseph Disease |
Machado-Joseph Disease |
BEFREE |
30343032 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular Degeneration |
Macular degeneration |
Pubtator |
21060049, 34646884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
GWASCAT_DG |
20800221 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
BEFREE |
29884837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
GWASCAT_DG |
29884837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
22403610, 23593420, 23771907, 24919398, 26874851, 28114269, 28177907, 28695110, 29455641, 29774072, 29904382, 30622177, 31085100, 31358835, 31364167, 31415244 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
CTD_human_DG |
28114269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
29395309, 30093563 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of kidney |
Kidney Cancer |
BEFREE |
16211313, 31014126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
29455641, 31174180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
25411317, 26515598, 26575700, 27852699, 28342318, 28475014, 28536612, 29348860, 31008116 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
23142633, 28177907, 29151594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
20101234, 30251751, 30665264 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
16273260, 24953529, 26576539, 28052040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
CTD_human_DG |
16367923 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
21487037, 21813176, 22988987, 23041612, 23142633, 23285131, 23593420, 23771907, 23922987, 24706440, 24831657, 25068995, 25542006, 26259918, 26690702, 26874851, 27852699, 28177907, 28432357, 28475014, 29113233, 29296874, 29774072, 29849118, 29856777, 29859176, 29872501, 29978464, 30466987, 30801854, 31008116, 31085100, 31150511, 31174180, 31364167, 31441359, 8875995 View all (22 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
16211313 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Carcinoma, Human |
Marfan Syndrome |
CTD_human_DG |
28114269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
CTD_human_DG |
28114269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
28650466 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms, Human |
Mammary Neoplasms |
CTD_human_DG |
28114269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mantle cell lymphoma |
Mantle Cell Lymphoma |
BEFREE |
22988987, 25937048, 29296874, 29872501, 31534006 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Marfan Syndrome |
Marfan syndrome |
Pubtator |
24940037 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Marginal Zone B-Cell Lymphoma |
B-Cell Lymphoma |
BEFREE |
22988987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
BEFREE |
23278988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
Pubtator |
23278988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
19177143, 23593420, 31287590, 33549124, 35260073, 36539575, 36622276 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
19802008, 23593420, 24104062, 28218743, 28731148, 29313974, 31287590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
27542227 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma Cutaneous Malignant |
Melanoma |
Pubtator |
29313974, 33549124, 37373286 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
19693801, 20800221, 29073752 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Depression |
Mental Depression |
PSYGENET_DG |
19693801, 20800221 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mesomelia |
Mesomelia |
BEFREE |
14745966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesomelia |
Mesomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
29845703 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome |
Metabolic syndrome |
Pubtator |
21494683, 28296937 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
21494683, 28296937 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
BEFREE |
19802008, 31287590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
Pubtator |
32892507 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya Disease |
Moyamoya disease |
Pubtator |
23518061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multicystic Dysplastic Kidney |
Multicystic renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
22781592, 22988987, 31148590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
27370539, 31649263 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
33174051 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
34101510 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial infarction |
Pubtator |
37119187 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
28790171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
31085100 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOTONIC DYSTROPHY 1 |
Myotonic dystrophy |
BEFREE |
31085100 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
28687750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
18287027, 19448672, 23041612, 24158497, 25068995, 25212991, 25411317, 25542006, 26259918, 26515598, 26575700, 26608372, 26874851, 27440078, 27852699, 28160756, 28177907, 28342318, 28650466, 29113233, 29348860, 29395309, 29856777, 30093563, 30889382, 31085100, 31415244, 31441359 View all (13 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
BEFREE |
18604725 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
26625251, 31441359 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
32705280 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
32392803 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibrosarcoma |
Neurofibrosarcoma |
Pubtator |
34079083 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
21487037, 26305508, 28177907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonalcoholic Steatohepatitis |
Non-alcoholic Fatty Liver Disease |
BEFREE |
29167529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
CLINGEN_DG |
27162350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oculomotor apraxia |
Oculomotor apraxia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oculovestibuloauditory syndrome |
Oculovestibuloauditory Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oral cleft |
Oral cleft |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Orofacial Cleft 1 |
Orofacial cleft |
Pubtator |
34061439 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
19236432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
22057548 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
19561643, 28618961, 29213214 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
22293903, 28618961, 30742741, 33401251, 36468636 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Mucinous Adenocarcinoma |
Ovarian adenocarcinoma |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
26515598, 26575700, 27852699, 28342318, 28475014, 28536612, 29348860, 31008116 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
25056203, 26515598, 27852699, 28475014, 28536612, 32989221, 37628927, 39341888 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
26515598 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
31878941 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
23142633, 28177907, 29151594, 29856777 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
26259918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
25945796, 26191284, 29856777, 34599596, 34763666, 37096681 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
Pubtator |
21494683 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
BEFREE |
30889382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Panic Disorder |
Panic disorder |
Pubtator |
24007783 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary craniopharyngioma |
Papillary Craniopharyngioma |
BEFREE |
28427201, 30060804 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
29113233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periodontitis |
Periodontitis |
Pubtator |
27302879 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
31099269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Port-Wine Stain |
Phakomatosis pigmentovascularis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Stress Disorder |
Stress Disorder |
BEFREE |
22869035, 25798337, 31291229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Stress Disorder |
Stress Disorder |
GWASDB_DG |
22869035 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pre B-cell acute lymphoblastic leukemia |
B-cell Lymphoma |
BEFREE |
21813176, 29849118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor B-cell lymphoblastic leukemia |
Lymphoblastic Leukemia |
BEFREE |
18604725, 21813176, 23153538, 29849118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor B-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
29849118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
18354269, 23153538, 23285131, 30631148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
LHGDN |
18354269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
20101234, 30251751, 30665264 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
15305379, 24505114, 32484838, 35131873, 35154101, 37552603 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
30251751, 32415173 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
31320835 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Stenosis |
Pulmonary Stenosis |
BEFREE |
17632781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal carcinoma |
Renal Carcinoma |
BEFREE |
16211313, 31014126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
19448672, 20185829, 25542006 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Diseases |
Respiratory Tract Diseases |
GWASCAT_DG |
30595370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
Pubtator |
34646884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
31636631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhinitis Allergic |
Rhinitis |
Pubtator |
26196693 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow Syndrome |
Robinow Syndrome |
BEFREE |
10986040, 12011143, 12548386, 14745966, 17061261, 17665217, 18831060, 19530173, 19640924, 19918918, 21693067, 22178368, 23850867, 24932600, 31617258 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow Syndrome |
Robinow syndrome |
Pubtator |
10986040, 21693067, 24932600, 31617258, 33048444, 35344616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow syndrome autosomal recessive |
Robinow syndrome |
Pubtator |
31617258, 35344616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow Syndrome, Autosomal Dominant |
Robinow Syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 |
Robinow Syndrome |
GENOMICS_ENGLAND_DG |
19461659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow syndrome, autosomal recessive |
Robinow Syndrome |
UNIPROT_DG |
10932186, 10932187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow syndrome, autosomal recessive |
Robinow Syndrome |
CLINVAR_DG |
10932186, 19640924 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow syndrome, autosomal recessive |
Robinow Syndrome |
BEFREE |
10932187, 14745966, 15952209, 16049033, 17632781, 17665217, 19461659, 22178368, 26284319, 31617258 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow syndrome, autosomal recessive |
Robinow Syndrome |
CTD_human_DG |
12815588, 15952209 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow syndrome, autosomal recessive |
Robinow Syndrome |
GENOMICS_ENGLAND_DG |
19461659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS |
ROBINOW SYNDROME, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY |
ROBINOW SYNDROME, WITH BRACHY-SYN-POLYDACTYLY |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
22294416, 26173023, 26739507 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Sarcoma |
Pubtator |
30518396 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Sarcoma |
Pubtator |
30518396 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma Ewing |
Sarcoma |
Pubtator |
26739507 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
21494683, 24500708 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
GWASDB_DG |
22883433 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia Spectrum and Other Psychotic Disorders |
Schizophrenia |
Pubtator |
30178121 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seasonal Affective Disorder |
Seasonal Affective Disorder |
BEFREE |
22538398 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seasonal Affective Disorder |
Seasonal Affective Disorder |
PSYGENET_DG |
22538398 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizures |
Seizures |
Pubtator |
39707840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
BEFREE |
19236432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Abnormalities |
Skin abnormalities |
Pubtator |
34995387 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
23922987, 34995387 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Deprivation |
Sleep deprivation |
Pubtator |
23440187 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
34088900 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondylocostal dysostosis autosomal recessive |
Spondylocostal dysostosis |
Pubtator |
10986040 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
30293994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
28559016, 29790687 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
28521453 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
23211525, 29167529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
16273260, 21487037, 24953529, 26576539, 28052040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Diseases |
Stomach disease |
Pubtator |
28052040 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
CTD_human_DG |
16367923 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
16367923, 19375421, 26708384, 28052040, 34319035, 34472665 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
24158497, 34162762, 34931925 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
24741632 |
Stimulate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
BEFREE |
19461659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of the toes |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tetralogy of Fallot |
Tetralogy of fallot |
Pubtator |
37749917 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tetralogy of Fallot |
Tetralogy of Fallot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracic hemivertebra |
Thoracic hemivertebra |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracolumbar scoliosis |
Thoracolumbar scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
26874851, 29693179, 31150511 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
27852699, 31150511, 32303620, 40427627 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
BEFREE |
22490406 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
31929567 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urothelial Carcinoma |
Urothelial Carcinoma |
BEFREE |
28427201 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
25755786, 32271410 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveal melanoma |
Uveal melanoma |
Pubtator |
31235702 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Van der Woude syndrome |
Van Der Woude Syndrome |
BEFREE |
28545453 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Varicose Veins |
Varicose veins |
Pubtator |
24940037 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
BEFREE |
10986040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |