|
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 |
| Astrocytoma |
Pilocytic astrocytoma |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes nephropathy |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Lung adenocarcinoma |
Familial lung adenocarcinoma |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
| Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome |
pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
N/A |
N/A |
GenCC |
| Renal Carcinoma |
Renal cell carcinoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
33122723 |
| Adenocarcinoma of Lung |
Associate
|
37322027 |
| Alzheimer Disease |
Associate
|
37848535 |
| Breast Neoplasms |
Associate
|
17088907, 27637080 |
| Breast Neoplasms |
Inhibit
|
24344014, 39300116 |
| Carcinogenesis |
Associate
|
26722413 |
| Carcinoma Hepatocellular |
Inhibit
|
25536614 |
| Carcinoma Non Small Cell Lung |
Associate
|
33122723, 33580150 |
| Carcinoma Squamous Cell |
Associate
|
31642613 |
| Chordoma |
Associate
|
27901492 |
| Colonic Neoplasms |
Inhibit
|
17088907 |
| Colorectal Neoplasms |
Inhibit
|
17088907 |
| Colorectal Neoplasms |
Associate
|
30340556, 30480076 |
| Dyschromatosis symmetrica hereditaria 1 |
Associate
|
25315659 |
| Dyschromatosis universalis hereditaria |
Associate
|
27885802, 28382689, 32174800, 34028087, 34174894, 37543808 |
| Ganglioneuroblastoma |
Associate
|
33172452 |
| Glioma |
Associate
|
26424902 |
| Hyperpigmentation |
Associate
|
27885802, 28382689, 32174800 |
| Keratoderma Palmoplantar |
Associate
|
25315659 |
| Leprosy |
Associate
|
22238647 |
| Lung Neoplasms |
Associate
|
22488244, 33122723 |
| Lymphatic Metastasis |
Inhibit
|
28975991 |
| Neoplasm Metastasis |
Inhibit
|
17088907, 30480076 |
| Neoplasm Metastasis |
Associate
|
26722413, 27178819, 30340556 |
| Neoplasms |
Associate
|
17088907, 25315659, 26798410, 27178819, 39942820 |
| Neoplasms |
Inhibit
|
21152398, 25315659, 26424902, 27178818, 27637080, 30480076, 33122723, 37510314, 39300116 |
| Neoplasms Squamous Cell |
Associate
|
8601578 |
| Neuroblastoma |
Associate
|
33172452 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
37510314 |
| Pigmentation Disorders |
Associate
|
25315659 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
39300116 |
| Retinal Dystrophies |
Associate
|
25315659 |
| Skin Neoplasms |
Associate
|
25315659 |
| Skull Base Neoplasms |
Associate
|
27901492 |
| Smoke Inhalation Injury |
Associate
|
23372645 |
| Stomach Neoplasms |
Associate
|
27178818 |
| Stress Disorders Post Traumatic |
Associate
|
35999196 |
| Thyroid Neoplasms |
Inhibit
|
26722413 |
| Urethral Neoplasms |
Associate
|
36421334 |
| Uterine Cervical Dysplasia |
Associate
|
31642613 |
| Uterine Cervical Neoplasms |
Inhibit
|
28975991 |
|