|
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 |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Anemia Aplastic |
Associate
|
34821370 |
| Arthritis Rheumatoid |
Associate
|
33993221, 36717188 |
| Asthma |
Associate
|
30604588 |
| Carcinoma Non Small Cell Lung |
Associate
|
33919074 |
| Cognition Disorders |
Associate
|
28137485 |
| Connective Tissue Diseases |
Associate
|
22208759 |
| COVID 19 |
Associate
|
40076669 |
| Cystic Fibrosis |
Associate
|
29239766, 31803183, 31900205, 37391706 |
| Diabetes Gestational |
Associate
|
34116986 |
| Diabetes Mellitus Type 2 |
Associate
|
34116986 |
| Embolism Fat |
Associate
|
37107672 |
| Emphysema |
Associate
|
25154699 |
| Genetic Diseases Inborn |
Associate
|
22208759 |
| Heredodegenerative Disorders Nervous System |
Associate
|
22208759 |
| Hyperlipidemias |
Associate
|
30045016 |
| Hypoxia |
Stimulate
|
33919074 |
| Idiopathic Interstitial Pneumonias |
Associate
|
28137485 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
28137485, 31339356, 31900205, 36717188 |
| Insulin Resistance |
Associate
|
34116986 |
| Leiomyoma |
Associate
|
36948524 |
| Liver Cirrhosis |
Associate
|
30604588 |
| Lung Diseases |
Associate
|
20010835, 26310313, 28137485, 29239766, 30604588, 31900205 |
| Lung Diseases Interstitial |
Associate
|
31339356, 36717188 |
| Lung Injury |
Associate
|
25928290 |
| Lung Neoplasms |
Associate
|
26310313, 30604588, 31900205, 37391706 |
| Metabolic Syndrome |
Associate
|
28178938 |
| Mouth Neoplasms |
Associate
|
37391706 |
| Multiple Sclerosis |
Associate
|
35281467 |
| Myotonia with Skeletal Abnormalities and Mental Retardation |
Associate
|
22208759 |
| Neoplasm Metastasis |
Associate
|
33919074 |
| Neoplasms |
Associate
|
36948524 |
| Neuroblastoma |
Associate
|
36572864 |
| Obesity |
Associate
|
35163195, 37107672 |
| Post Acute COVID 19 Syndrome |
Associate
|
40076669 |
| Pregnancy Interstitial |
Associate
|
40076669 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
20173748, 20656943, 22461431, 23936167, 24587150, 25315895, 25584925, 25928290, 26251585, 26310313, 28166215, 28474623, 28929109, 29239766, 29872291, 30079747, 30111857, 30262855, 30604588, 30694715, 31900205, 32336055, 34105356, 34166600, 34210319, 37366807, 37391706, 37447386, 37605846 View all (14 more) |
| Pulmonary Disease Chronic Obstructive |
Inhibit
|
23886569 |
| Pulmonary Fibrosis |
Associate
|
28166215, 30604588, 33993221, 35532073 |
| Renal cell carcinoma 1 |
Associate
|
25154699 |
| Respiratory Distress Syndrome |
Associate
|
40076669 |
| Respiratory Insufficiency |
Associate
|
34105356 |
| Respiratory Tract Diseases |
Associate
|
31900205, 37391706 |
| Severe Acute Respiratory Syndrome |
Associate
|
40076669 |
| Thyroid Neoplasms |
Associate
|
32377223 |
| Tremor |
Associate
|
34320404 |
|