|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Breast Cancer |
breast cancer |
N/A |
N/A |
GenCC |
| Breast Carcinoma |
breast carcinoma, hereditary breast carcinoma |
N/A |
N/A |
ClinVar, GenCC |
| colon cancer |
Colon cancer |
N/A |
N/A |
ClinVar |
| colorectal cancer |
Colorectal cancer |
N/A |
N/A |
ClinVar |
| Fanconi Anemia |
Fanconi anemia complementation group U, Fanconi anemia |
N/A |
N/A |
ClinVar, GenCC |
| Male infertility |
male infertility with azoospermia or oligozoospermia due to single gene mutation |
N/A |
N/A |
GenCC |
| Ovarian cancer |
familial ovarian cancer |
N/A |
N/A |
GenCC |
| Premature Ovarian Failure |
premature ovarian failure 17 |
N/A |
N/A |
GenCC |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
short stature, microcephaly, and endocrine dysfunction |
N/A |
N/A |
ClinVar |
| Spermatogenic Failure |
spermatogenic failure 50 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
26383589 |
| Anemia Hemolytic |
Associate
|
27208205 |
| Ataxia Telangiectasia |
Associate
|
30566856 |
| Breast Neoplasms |
Associate
|
21290343, 21701125, 22464251, 23441864, 24642895, 25556451, 26787654, 29255180, 29433565, 30180900, 31370865, 31463769, 35061678, 35691022, 37774058, 39684352 View all (1 more) |
| Carcinoma Hepatocellular |
Associate
|
32258128, 32277685 |
| Carcinoma Non Small Cell Lung |
Associate
|
21647442 |
| Carcinoma Pancreatic Ductal |
Associate
|
35171259 |
| Colorectal Neoplasms |
Associate
|
21104022, 28977800, 29748531, 32277685, 32458654 |
| Developmental Disabilities |
Associate
|
29061174 |
| Disease |
Associate
|
30712190 |
| Drug Hypersensitivity |
Associate
|
27208205 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
24485306 |
| Endometrial Neoplasms |
Associate
|
26017882, 38518807 |
| Fanconi Anemia |
Associate
|
22464251, 23620800, 31584931 |
| Glioma |
Associate
|
23534771 |
| Head and Neck Neoplasms |
Associate
|
29038438, 37774056 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
23300655, 29255180, 30306255 |
| Hypoxia |
Inhibit
|
39236027 |
| Lung Neoplasms |
Associate
|
32277685, 39236027 |
| Lymphatic Metastasis |
Associate
|
24728564 |
| Lymphatic Metastasis |
Stimulate
|
28977800 |
| Meningioma |
Associate
|
23534771 |
| Mouth Neoplasms |
Associate
|
22726897 |
| Nasopharyngeal Carcinoma |
Associate
|
27356695 |
| Neoplasm Metastasis |
Associate
|
34154613 |
| Neoplasms |
Associate
|
21104022, 24728564, 25428673, 26017882, 26320178, 30836272, 30870501, 31584931, 32277685, 37344587 |
| Neoplasms |
Inhibit
|
32669601 |
| Obesity Abdominal |
Associate
|
38518807 |
| Ovarian Neoplasms |
Associate
|
19127255, 30712190, 37344587 |
| Ovarian Neoplasms |
Stimulate
|
30712190 |
| Pancreatic Neoplasms |
Associate
|
16540687, 17986315, 35171259 |
| Prostatic Neoplasms |
Associate
|
26339569, 37733366 |
| Radiation Injuries |
Associate
|
21286719 |
| Radiation Pneumonitis |
Associate
|
21647442 |
| Rectal Neoplasms |
Associate
|
26320178 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
33714009 |
| Stomach Neoplasms |
Associate
|
25428673, 26590607, 39206620 |
| T Lymphocytopenia Idiopathic CD4 Positive |
Associate
|
37344587 |
| Testicular Germ Cell Tumor |
Associate
|
25609015, 30870501 |
| Thyroid Neoplasms |
Stimulate
|
24377596 |
| Thyroid Neoplasms |
Associate
|
24377596, 26938431 |
| Triple Negative Breast Neoplasms |
Associate
|
24728564, 25743260 |
| Uterine Cervical Neoplasms |
Associate
|
23539294, 24485306, 34319032, 35996502 |
|