| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute leukemia |
Leukemia |
BEFREE |
30592640 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
29920189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
CTD_human_DG |
15378696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
30801752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
29251824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma, Basal Cell |
Adenocarcinoma |
CTD_human_DG |
15378696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma, Oxyphilic |
Adenocarcinoma |
CTD_human_DG |
15378696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma, Tubular |
Adenocarcinoma |
CTD_human_DG |
15378696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
10646882 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
29920189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Diffuse Large B-Cell Lymphoma |
B-cell Lymphoma |
BEFREE |
19716854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Medulloblastoma |
Medulloblastoma |
BEFREE |
17973327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
19072283 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic carcinoma |
Anaplastic Carcinoma |
CTD_human_DG |
12376462, 16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic Large Cell Lymphoma, ALK-Positive |
Anaplastic Lymphoma |
BEFREE |
17720243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
17971243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
23190644, 9717968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal Dominant Myotubular Myopathy |
Centronuclear Myopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal Recessive Centronuclear Myopathy |
Centronuclear Myopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
20223922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bloom Syndrome |
Bloom syndrome |
Pubtator |
33219493 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
29125233, 31738426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
30707464, 31705785 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
31705785 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
37176055 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bulbar palsy |
Bulbar palsy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cap Myopathy |
Cap Myopathy |
BEFREE |
19553118, 20554445, 24095155, 24239060 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cap Myopathy |
Cap Myopathy |
ORPHANET_DG |
20554445 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cap myopathy |
Cap Myopathy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CAP MYOPATHY 1 |
Cap Myopathy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CAP MYOPATHY, TPM3-RELATED (disorder) |
Cap Myopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
10083732, 27450657, 30801752 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma |
Carcinoma |
CTD_human_DG |
12376462, 16316942 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma |
Carcinoma |
Pubtator |
35149769 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma Endometrioid |
Endometrioid carcinoma |
Pubtator |
23078675 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
18803288, 20356415, 22792281, 34850589 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
32102128 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
39626326 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Cribriform |
Carcinoma |
CTD_human_DG |
15378696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Granular Cell |
Carcinoma |
CTD_human_DG |
15378696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Spindle-Cell |
Carcinoma |
CTD_human_DG |
12376462, 16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Centronuclear myopathy |
Centronuclear Myopathy |
CTD_human_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
29920189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Medulloblastoma |
Medulloblastoma |
BEFREE |
17973327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood-onset nemaline myopathy |
Nemaline myopathy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
27681484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
26716414, 3477801 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
CTD_human_DG |
19369484 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
26472021, 26546295, 26563355, 26939704, 29360440, 31810358 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
25699276 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
26472021, 26563355, 31810358, 33707574, 37142453 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital central hypoventilation syndrome |
Congenital central hypoventilation syndrome |
Pubtator |
35912694 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Dysplasia Of The Hip |
Developmental dysplasia of the hip |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Fiber Type Disproportion |
Congenital myopathy with fiber type disproportion |
CLINVAR_DG |
12467750, 17376686, 18300303, 19487656, 19553118, 19953533, 20554445, 21357678, 22749829, 22798622, 23886664, 24095155, 24507666, 24642510, 24692096, 26307083, 27363342 View all (2 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Fiber Type Disproportion |
Congenital myopathy with fiber type disproportion |
BEFREE |
18300303, 19953533, 20951040, 23924754 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Fiber Type Disproportion |
Congenital myopathy with fiber type disproportion |
GENOMICS_ENGLAND_DG |
18300303, 24692096 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Fiber Type Disproportion |
Congenital myopathy with fiber type disproportion |
UNIPROT_DG |
18300303, 19953533, 20951040, 24692096 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Fiber Type Disproportion |
Congenital myopathy with fiber type disproportion |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital fiber-type disproportion myopathy |
Congenital myopathy with fiber type disproportion |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital generalized hypercontractile muscle stiffness syndrome |
Congenital Hypercontractile Muscle Stiffness Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital myopathy (disorder) |
Congenital myopathy |
GENOMICS_ENGLAND_DG |
10619715 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital myopathy (disorder) |
Congenital myopathy |
BEFREE |
20457903, 21357678, 24507666, 24692096 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Structural Myopathy |
Congenital Structural Myopathy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
29405994, 31627758 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn Disease |
BEFREE |
9717968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 1 |
Diabetes mellitus, type 1 |
Pubtator |
19953533 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
19716854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal lower limb amyotrophy |
Distal lower limb amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal Myopathies |
Distal myopathy |
Pubtator |
37147571 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Embryonal Neoplasm |
Embryonal Neoplasm |
BEFREE |
17973327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
27485360 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
28138712, 35287546 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Flexion contracture - elbow |
Elbow flexion contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Follicular thyroid carcinoma |
Follicular Thyroid Carcinoma |
BEFREE |
19910897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastro-enteropancreatic neuroendocrine tumor |
Digestive system neuroendocrine neoplasm |
BEFREE |
29563190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized amyotrophy |
Amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized limb muscle atrophy |
Limb Muscle Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
17971243, 24270553 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
24270553 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
24913705, 30220707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
24913705 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
29920189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Diffuse Gastric Cancer |
Gastric Cancer |
CTD_human_DG |
15378696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hip Contracture |
Hip Contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
12467750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic obstructive cardiomyopathy |
Hypertrophic cardiomyopathy |
BEFREE |
12467750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Myofibroblastic Tumor |
Inflammatory Myofibroblastic Tumor |
BEFREE |
10934142, 12787312, 16651537, 17063337, 17163160, 25596129, 27742657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Myofibroblastic Tumor |
Inflammatory Myofibroblastic Tumor |
ORPHANET_DG |
17063337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory myofibroblastic tumor |
Inflammatory Myofibroblastic Tumor |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intermediate nemaline myopathy |
Nemaline myopathy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ki-1+ Anaplastic Large Cell Lymphoma |
Anaplastic Lymphoma |
BEFREE |
10216106, 16651537, 17163160, 17720243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
BEFREE |
29540150 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
20223922, 9175086 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
29920189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
18803288, 20356415, 22792281 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases |
Lung disease |
Pubtator |
32277007 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
32277007 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
20223922, 21778999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin |
Non-Hodgkin lymphoma |
BEFREE |
19716854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Glioma |
Glioma |
BEFREE |
30220707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
31705785 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
22792281 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
31738426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
28218045, 31371995 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
CTD_human_DG |
15378696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of thyroid |
Thyroid cancer |
BEFREE |
11126359, 19907326, 30668525 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
12665646, 12670889, 24386191, 25527197, 25803323, 26216294, 27485360, 28578312, 28864638, 29606586, 29617282, 29880008, 29920189, 31072837, 31331058, 31406350, 31705785, 31738426, 31738427, 8753779 View all (5 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
CTD_human_DG |
19369484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
26716414 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mastocytosis |
Mastocytosis |
BEFREE |
23869086 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
BEFREE |
17973327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
8753779 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitral Valve Prolapse Syndrome |
Mitral Valve Prolapse |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucoepidermoid Carcinoma |
Mucoepidermoid Carcinoma |
BEFREE |
30801752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenic Syndromes, Congenital |
Myasthenic Syndrome |
BEFREE |
20951040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathies Nemaline |
Nemaline myopathy |
Pubtator |
10051637, 1347195, 18716557, 19953533, 21357678, 30040739, 37265148, 37393515, 38003336, 38219297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathies, Nemaline |
Myopathy |
BEFREE |
10619715, 11106625, 11166164, 11257471, 11731279, 12163017, 12196661, 12467750, 12601110, 12805120, 17157023, 17376686, 18300303, 18382475, 18716557, 19953533, 20012312, 22358459, 24095155 View all (4 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopathies, Nemaline |
Myopathy |
GENOMICS_ENGLAND_DG |
10619715, 18300303 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopathies, Nemaline |
Myopathy |
LHGDN |
12196661, 12467750, 17376686 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopathies, Nemaline |
Myopathy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopathy |
Myopathy |
BEFREE |
21357678, 24095155, 26307083, 26418456, 28211977 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Myopathy |
Myopathy |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Myopathy, Centronuclear, 1 |
Myopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy, Centronuclear, Autosomal Dominant |
Myopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonia Congenita |
Myotonia congenita |
Pubtator |
22798622, 24692096, 26307083, 30768849, 35912694 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nemaline myopathy 1 |
Nemaline myopathy |
UNIPROT_DG |
10587521, 17376686, 18300303, 19487656, 19553118, 24239060, 24692096, 7704029 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nemaline myopathy 1 |
Nemaline myopathy |
GENOMICS_ENGLAND_DG |
10619715, 18300303, 24692096 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nemaline myopathy 1 |
Nemaline myopathy |
CLINVAR_DG |
10619715, 12467750, 17376686, 18300303, 19487656, 19553118, 19953533, 20554445, 21357678, 22749829, 22798622, 23886664, 24095155, 24507666, 24642510, 24692096, 26307083, 27363342, 27854218 View all (4 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nemaline myopathy 1 |
Nemaline myopathy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nemaline Myopathy, Childhood Onset |
Nemaline myopathy |
ORPHANET_DG |
7704029 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10074915, 16360423, 17971243, 19883730, 20223922, 2594368, 26216294, 26563355, 26603524, 27742657, 28578312, 28870922, 29118225, 29563190, 29568395, 29606586, 29752549, 29764494, 29880008, 29920189, 30220707, 30333516, 30425456, 30592640, 30801752, 30877273, 31017386, 31075511, 31117040, 31400924, 31498178, 31614114, 7585643, 7590742, 8441429 View all (20 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrosclerosis |
Nephrosclerosis |
BEFREE |
31119846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Neoplasms |
Nervous System Neoplasms |
BEFREE |
7559588 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
11223544, 15015775, 15867224, 17973327, 18678285, 19363525, 21728718, 29898774, 30425456, 8441429, 8481906, 9049830 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroectodermal Tumor, Primitive |
Neuroectodermal Tumors |
BEFREE |
10549931 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroendocrine Tumors |
Neuroendocrine Tumors |
BEFREE |
29118225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuromuscular Diseases |
Neuromuscular disease |
Pubtator |
30040739 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuromuscular dysphagia |
Neuromuscular dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy |
Neuropathy |
BEFREE |
28351971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
29251824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
28218045, 31371995 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
28218045 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
10083732, 10216106, 10646882, 11165748, 12670889, 1486840, 17131411, 19883730, 20951315, 21339735, 23132790, 2594368, 29214440, 29606586, 30015845, 7585643, 7590742, 9169129 View all (3 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
32348865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pena-Shokeir syndrome type I |
Pena Shokeir syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periodontitis |
Periodontitis |
BEFREE |
18431039 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
BEFREE |
9406845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychotic disorders |
Pubtator |
38340697 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
28181950, 29405994, 31627758 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal glomerular disease |
Renal Glomerular Disease |
BEFREE |
31119846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
17973327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Salivary Gland Neoplasms |
Salivary gland neoplasm |
BEFREE |
30801752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
25300797 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
27874193 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
19405953 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sinus Tachycardia |
Sinus Tachycardia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small cell carcinoma of lung |
Lung carcinoma |
BEFREE |
28870922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
28138712 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
CTD_human_DG |
15378696 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
33896831 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
10216106, 10646882 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
11126359, 19907326, 23132790, 30668525 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid carcinoma |
Thyroid Carcinoma |
CTD_human_DG |
23811263 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Gland Follicular Adenoma |
Thyroid Gland Follicular Adenoma |
CTD_human_DG |
23811263 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
11126359, 11216646, 19907326, 19910897, 30668525, 9172002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
CTD_human_DG |
23811263 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
32737449 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid Nodule |
Thyroid Nodule |
BEFREE |
17381488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trismus |
Trismus |
Pubtator |
38219297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tubular Aggregate Myopathy |
Tubular Aggregate Myopathy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
9717968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Undifferentiated carcinoma |
Carcinoma |
CTD_human_DG |
12376462, 16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
35734544 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
35149769 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked centronuclear myopathy |
Centronuclear Myopathy, X-Linked |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |