|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Asthma |
Asthma, Asthma (childhood onset), Asthma onset (childhood vs adult), Asthma (age of onset) |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Myasthenia Gravis |
Myasthenia gravis |
N/A |
N/A |
GWAS |
| Osteoarthritis Of Hip |
Osteoarthritis of the hip or knee (with total joint replacement) |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
| Vitiligo |
Vitiligo |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acro Osteolysis |
Associate
|
36740137 |
| Adenocarcinoma |
Associate
|
34724890 |
| Adenocarcinoma of Lung |
Associate
|
35437508, 37543671 |
| Adenocarcinoma of Lung |
Stimulate
|
39273449 |
| Agammaglobulinemia |
Associate
|
18606301, 22271396 |
| Ameloblastoma |
Associate
|
21643971 |
| Amyotrophic Lateral Sclerosis |
Associate
|
21659498 |
| Aortic Valve Calcification of |
Associate
|
28246602 |
| Aortic Valve Stenosis |
Associate
|
28246602 |
| Aphasia Broca |
Associate
|
36818472 |
| Arthritis Psoriatic |
Stimulate
|
28619088 |
| Arthritis Rheumatoid |
Associate
|
18839399, 27054952, 27572279, 32815001 |
| Atrial Fibrillation |
Associate
|
22001292 |
| Atrial Remodeling |
Associate
|
22001292 |
| Bone Diseases |
Associate
|
25063546, 26617755, 26781475, 40222603 |
| Bone Diseases Metabolic |
Associate
|
22370887 |
| Bone Neoplasms |
Associate
|
17982618 |
| Bone Resorption |
Associate
|
16936272, 16960694 |
| Breast Neoplasms |
Associate
|
21559440, 22824341, 26781475, 27191503, 27893411, 28577080, 28758931, 29932437, 35697931 |
| Calcinosis |
Associate
|
16449517 |
| Calcinosis Cutis |
Stimulate
|
21407234 |
| Carcinogenesis |
Associate
|
34570303 |
| Carcinoma Giant Cell |
Associate
|
35697931 |
| Carcinoma Ovarian Epithelial |
Associate
|
35163671 |
| Carcinoma Renal Cell |
Associate
|
26528707 |
| Cardiomegaly |
Associate
|
12929927 |
| Cardiovascular Diseases |
Associate
|
22001292 |
| Cataract |
Associate
|
32180680 |
| Cognition Disorders |
Associate
|
35858838 |
| Colonic Neoplasms |
Associate
|
33985413, 36646765 |
| Colorectal Neoplasms |
Associate
|
34541005 |
| COVID 19 |
Associate
|
36818472 |
| Cysts |
Associate
|
21683340 |
| Delayed Emergence from Anesthesia |
Associate
|
24081232 |
| Dentigerous Cyst |
Associate
|
21683340 |
| Diabetes Mellitus |
Associate
|
21659498 |
| Disease |
Associate
|
11771666, 31923705 |
| Dysosteosclerosis |
Associate
|
31163101 |
| Edema |
Associate
|
12568416 |
| Endometrial Neoplasms |
Associate
|
29932437 |
| Esophageal Neoplasms |
Associate
|
25019155, 25973136 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
25019155, 25973136 |
| Expansile Bone Lesions |
Associate
|
31923705, 36740137 |
| Familial Paget's disease of bone |
Associate
|
36740137 |
| Femur Head Necrosis |
Associate
|
26617755 |
| Fibrous Dysplasia Polyostotic |
Associate
|
21987421 |
| Frailty |
Associate
|
37254268 |
| Giant Cell Tumor of Tendon Sheath |
Associate
|
31189751 |
| Glioma |
Associate
|
22787434 |
| Hearing Loss |
Associate
|
12568416, 12929927, 31923705, 40222603 |
| Heart Failure Diastolic |
Associate
|
34685778 |
| Heart Valve Diseases |
Associate
|
16449517, 27003233 |
| Hip Injuries |
Inhibit
|
21760914 |
| Hip Injuries |
Associate
|
21760914 |
| Hodgkin Disease |
Associate
|
11675352 |
| Hypercalcemia |
Associate
|
11781248, 12929927, 22271396, 31923705, 40222603 |
| Hyperostosis corticalis deformans juvenilis |
Associate
|
11771666, 12929927, 20564239, 21987421, 25063546, 31923705, 32298837 |
| Immunologic Deficiency Syndromes |
Associate
|
18606301 |
| Inflammation |
Associate
|
27003233, 34685778 |
| Iron Overload |
Associate
|
37532711 |
| Kidney Diseases |
Associate
|
25478860 |
| Kidney Neoplasms |
Associate
|
37407978 |
| Leukemia Lymphoma Adult T Cell |
Associate
|
11781248 |
| Liver Cirrhosis Biliary |
Associate
|
27054952 |
| Lymphatic Metastasis |
Stimulate
|
25973136 |
| Lymphoma Large B Cell Diffuse |
Associate
|
19412164 |
| Melanoma |
Associate
|
21407234 |
| Monckeberg Medial Calcific Sclerosis |
Associate
|
21659498 |
| Multiple Myeloma |
Associate
|
26762414, 36251145 |
| Musculoskeletal Diseases |
Associate
|
12929927 |
| Myalgia |
Associate
|
28619088 |
| Myasthenia Gravis |
Associate
|
25643325, 35074870 |
| Neoplasm Metastasis |
Associate
|
21559440, 26528707, 27191503, 28577080 |
| Neoplasms |
Associate
|
21559440, 23369128, 31992773, 35163671, 39273449 |
| Neoplasms |
Stimulate
|
26781475 |
| Obesity |
Associate
|
16960694 |
| Oculocerebrorenal Syndrome |
Associate
|
31923705 |
| Odontogenic Cysts |
Associate
|
21643971, 33768738 |
| Osteitis Deformans |
Associate
|
11149487, 11473345, 11742440, 12929927, 19578385, 19925894, 20436471, 20564239, 21623375, 21987421, 31923705 |
| Osteoarthritis Knee |
Associate
|
30921190 |
| Osteolysis |
Associate
|
21643971, 21659498, 33768738 |
| Osteonecrosis |
Associate
|
25820558, 26617755 |
| Osteopetrosis |
Associate
|
18606301, 20564239, 22271396, 24108692, 32097281, 34049530 |
| Osteopetrosis Autosomal Recessive 1 |
Associate
|
19507210 |
| Osteopetrosis Autosomal Recessive 7 |
Associate
|
31163101 |
| Osteopetrosis mild autosomal recessive form |
Associate
|
18606301, 22271396, 28816234 |
| Osteoporosis |
Associate
|
22370887, 34049530 |
| Osteoporotic Fractures |
Associate
|
22370887 |
| Osteosarcoma |
Associate
|
17982618, 38468522 |
| Pain |
Associate
|
12568416 |
| Polyostotic osteolytic dysplasia hereditary expansile |
Associate
|
11555792, 11742440, 11771666, 12568416, 12929927, 20564239, 31923705, 36740137 |
| Radicular Cyst |
Associate
|
21643971 |
| Root Resorption |
Associate
|
40222603 |
| Stomach Neoplasms |
Associate
|
30015970, 35421138 |
| Tachycardia Sinoatrial Nodal Reentry |
Stimulate
|
34737220 |
| Tendinopathy |
Associate
|
40222603 |
| Tibial Neuropathy |
Associate
|
12568416 |
| Tooth Loss |
Associate
|
12929927, 31923705 |
| Transfusion Reaction |
Associate
|
35858838, 37532711 |
| Uterine Cervical Dysplasia |
Stimulate
|
25973136 |
| Uterine Cervical Neoplasms |
Associate
|
32616510 |
| Vascular Calcification |
Associate
|
21659498 |
| Weight Loss |
Associate
|
24081232 |
| Wiskott Aldrich Syndrome |
Associate
|
32097281 |
| Zellweger Syndrome |
Associate
|
21987421 |
|