|
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 |
| Acne |
acne vulgaris |
N/A |
N/A |
GWAS |
| Amyotrophic Lateral Sclerosis |
juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis-parkinsonism-dementia complex, amyotrophic lateral sclerosis-parkinsonism-dementia complex |
N/A |
N/A |
ClinVar, GenCC |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Macrothrombocytopenia |
macrothrombocytopenia, isolated, autosomal dominant macrothrombocytopenia |
N/A |
N/A |
GenCC |
| Mental retardation |
hypomagnesemia, seizures, and intellectual disability |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate
|
35759233 |
| Adenocarcinoma |
Associate
|
22166235 |
| Adenoma |
Associate
|
17823441 |
| Adenomatous Polyps |
Associate
|
17823441 |
| Alzheimer Disease |
Associate
|
17158800 |
| Amyotrophic Lateral Sclerosis |
Associate
|
25681989 |
| Atrial Fibrillation |
Stimulate
|
22802050 |
| Atrial Fibrillation |
Associate
|
28839241 |
| Blood Coagulation Disorders Inherited |
Associate
|
35561741 |
| Brain Damage Chronic |
Associate
|
19644062 |
| Breast Neoplasms |
Associate
|
19515901, 23471296, 23686305, 24952306, 29684587, 30679450, 36064388 |
| Calcinosis |
Associate
|
30679450 |
| Carcinoma Hepatocellular |
Associate
|
32484206 |
| Carcinoma Pancreatic Ductal |
Associate
|
28284058 |
| Carcinoma Renal Cell |
Associate
|
29984342 |
| Cerebral Infarction |
Associate
|
19644062 |
| Colonic Neoplasms |
Associate
|
28094304 |
| Colonic Polyps |
Associate
|
17823441 |
| Colorectal Neoplasms |
Associate
|
31640089, 36363540 |
| Down Syndrome |
Associate
|
16051700 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
22166235, 34831634 |
| Edema |
Associate
|
31293101 |
| Endometrial Hyperplasia |
Associate
|
30997980 |
| Endometrial Neoplasms |
Associate
|
30997980 |
| Familial Primary Pulmonary Hypertension |
Associate
|
24920677 |
| Fatigue Syndrome Chronic |
Associate
|
34831634 |
| Fibrosis |
Associate
|
37299589 |
| Glioblastoma |
Associate
|
25913706, 25965832, 26088448, 28061441, 28410232, 30338939, 35292358 |
| Glioma |
Associate
|
25192910, 25438992, 27629139, 35292358 |
| Glioma |
Stimulate
|
37642779 |
| Glucose Intolerance |
Associate
|
34865947 |
| Head and Neck Neoplasms |
Associate
|
18006838 |
| Hyperglycemia |
Associate
|
24223965 |
| Hyperglycemia |
Inhibit
|
25472964 |
| Hypomagnesemia 1 Intestinal |
Associate
|
35561741 |
| Hypoxia |
Stimulate
|
32215176 |
| Hypoxia Brain |
Associate
|
25472964, 32215176 |
| Inflammation |
Associate
|
31849975, 35759233, 37299589, 37786778 |
| Laurin Sandrow syndrome |
Associate
|
22135214 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
37786778 |
| Liver Failure |
Associate
|
39621058 |
| Liver Failure Acute |
Associate
|
39621058 |
| Lung Neoplasms |
Associate
|
30477473 |
| Lymphatic Metastasis |
Associate
|
28284058 |
| Lymphatic Metastasis |
Stimulate
|
30477473, 31640089 |
| Magnesium Deficiency |
Stimulate
|
33210606 |
| Melanoma |
Associate
|
22897572 |
| Multiple Pterygium Syndrome Autosomal Dominant |
Associate
|
35561741 |
| Myocardial Ischemia |
Stimulate
|
34326388 |
| Necrosis |
Associate
|
31293101 |
| Neoplasm Metastasis |
Associate
|
24935580, 24952306, 35771152 |
| Neoplasm Metastasis |
Stimulate
|
28791418, 31640089 |
| Neoplasms |
Stimulate
|
23168410, 36363540, 37786778 |
| Neoplasms |
Associate
|
23471296, 24769209, 26028116, 26563869, 27629139, 28791418, 29984342, 30477473, 31640089, 35771152, 39212541, 39513908 |
| Neuroblastoma |
Associate
|
25277194 |
| Neurodegenerative Diseases |
Associate
|
16051700, 17158800 |
| Obsessive Compulsive Disorder |
Associate
|
22095678 |
| Ovarian Neoplasms |
Associate
|
24935580 |
| Pain |
Associate
|
36095216 |
| Pancreatic Neoplasms |
Associate
|
22166235, 28284058 |
| Parkinson Disease |
Associate
|
16051700 |
| Polyps |
Associate
|
17823441 |
| Prostatic Neoplasms |
Associate
|
22355351, 23168410, 24769209, 26028116, 27803760, 29500887, 32215176 |
| Rectal Neoplasms |
Stimulate
|
36363540 |
| Retinoblastoma |
Associate
|
15286426 |
| Seizures |
Associate
|
35561741 |
| Sepsis |
Associate
|
32484206 |
| Smooth Muscle Tumor |
Associate
|
28860220 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
35771152 |
| Stomach Neoplasms |
Associate
|
19032368, 21443732, 39212541 |
| Trigeminal Neuralgia |
Associate
|
36095216 |
| Urinary Bladder Neoplasms |
Stimulate
|
28791418 |
| Uterine Cervical Neoplasms |
Associate
|
31293101 |
| Vascular Calcification |
Associate
|
28860220 |
| Vascular Calcification |
Inhibit
|
28860220 |
| Vascular Diseases |
Associate
|
25472964 |
| Vascular System Injuries |
Associate
|
24223965 |
| Wounds and Injuries |
Associate
|
37299589 |
|