|
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 |
| Deafness |
Autosomal dominant nonsyndromic hearing loss 64, autosomal dominant nonsyndromic hearing loss 64, autosomal dominant nonsyndromic hearing loss |
N/A |
N/A |
ClinVar, GenCC |
| hearing impairment |
Hearing impairment |
N/A |
N/A |
ClinVar |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
17067390, 22867709 |
| Ascites |
Associate
|
28852723 |
| Barrett Esophagus |
Associate
|
27431913 |
| Breast Neoplasms |
Associate
|
18590557, 21645409, 25006666, 26662313, 28460471, 29895124, 33239070, 33492282, 33770100, 35007560 |
| Burkitt Lymphoma |
Associate
|
33971465 |
| Carcinogenesis |
Associate
|
15560849, 31356194 |
| Carcinoma Ductal |
Associate
|
21645409 |
| Carcinoma Hepatocellular |
Associate
|
17997990 |
| Carcinoma Non Small Cell Lung |
Associate
|
24681884 |
| Carcinoma Ovarian Epithelial |
Associate
|
28852723 |
| Carcinoma Renal Cell |
Associate
|
15328523, 17922292 |
| Carcinoma Squamous Cell |
Associate
|
17067390 |
| Cataract |
Stimulate
|
28682901 |
| Cholangiocarcinoma |
Associate
|
37513508 |
| Colonic Neoplasms |
Associate
|
16998592 |
| Colorectal Neoplasms |
Associate
|
15557007, 23038270, 25198428, 26383618 |
| Digestive System Diseases |
Inhibit
|
20951133 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
16868249 |
| Endometrial Neoplasms |
Associate
|
21478115 |
| Epilepsies Myoclonic |
Stimulate
|
22152093 |
| Glioblastoma |
Associate
|
23538445, 26152356 |
| Glioblastoma |
Inhibit
|
26379193 |
| HIV Infections |
Inhibit
|
30344003 |
| HIV Infections |
Associate
|
30653393, 32719312 |
| Hodgkin Disease |
Associate
|
16868249 |
| Hyperbilirubinemia Shunt |
Associate
|
31461782 |
| Infections |
Associate
|
37594275 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
15183896, 27078856 |
| Leukemia Lymphocytic Chronic B Cell |
Inhibit
|
21732781 |
| Leukemia Myeloid Acute |
Associate
|
11964312, 24030154, 27385100 |
| Leukemia Myeloid Acute |
Inhibit
|
24526787 |
| Lung Neoplasms |
Associate
|
24681884, 30016782, 34008478 |
| Lymphoma Large B Cell Diffuse |
Associate
|
21732781 |
| Melanoma |
Associate
|
11801603, 20461078, 22723988, 32054850, 35941108 |
| Mitochondrial Diseases |
Stimulate
|
16868249 |
| Mitochondrial Diseases |
Associate
|
23348591 |
| Multiple Myeloma |
Associate
|
12665525, 15070698, 27494845 |
| Neoplasm Metastasis |
Associate
|
17922292 |
| Neoplasms |
Associate
|
15328523, 15609401, 17922292, 21478115, 21738708, 24287697, 25586349, 26152356, 26788912, 29307797, 30055105, 31973107, 32155687, 32719312, 33492282, 33558564, 35007560 View all (2 more) |
| Neoplasms |
Inhibit
|
30258062, 31412918 |
| Neuroblastoma |
Associate
|
15632181, 20444257, 22788920, 26575016, 27655666 |
| Neurodegenerative Diseases |
Associate
|
33558564 |
| Non Muscle Invasive Bladder Neoplasms |
Inhibit
|
22218530 |
| Ovarian Neoplasms |
Associate
|
22052903, 22558117, 28852723, 35281523 |
| Ovarian Neoplasms |
Inhibit
|
29226858 |
| Pancreatic Neoplasms |
Associate
|
22320973, 34462421 |
| Pre Eclampsia |
Associate
|
35373096 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
25079338, 30486609 |
| Prostatic Hyperplasia |
Associate
|
37378942 |
| Prostatic Neoplasms |
Associate
|
19275204, 19895686 |
| Prostatic Neoplasms |
Inhibit
|
37378942 |
| Rectal Neoplasms |
Associate
|
34496878 |
| Rhabdoid Tumor |
Associate
|
35613525 |
| Rhabdomyosarcoma |
Associate
|
36980247 |
| Small Cell Lung Carcinoma |
Associate
|
14560006, 18401527 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
31517839, 33108350 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit
|
38490621 |
| Stomach Neoplasms |
Associate
|
15609401 |
| Thyroid Neoplasms |
Associate
|
31973107 |
| Triple Negative Breast Neoplasms |
Associate
|
27276707, 35631261, 37093683 |
| Urethral Neoplasms |
Associate
|
20814238 |
| Urinary Bladder Neoplasms |
Associate
|
20814238, 22517918 |
| Urinary Bladder Neoplasms |
Inhibit
|
22218530 |
| Uterine Cervical Neoplasms |
Associate
|
15560849, 17067390 |
|