|
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 |
| Colorectal Cancer |
Early onset colorectal cancer, Colorectal cancer, Colorectal cancer (SNP x SNP interaction), Colorectal cancer (PheCode 153), ICD10 C18, C19, C20: colorectal cancer |
N/A |
N/A |
GWAS |
| colorectal cancer |
Familial colorectal cancer |
N/A |
N/A |
ClinVar |
| Hereditary Mixed Polyposis Syndrome |
hereditary mixed polyposis syndrome |
N/A |
N/A |
ClinVar, GenCC |
| Hereditary mixed polyposis syndrome |
polyposis syndrome, hereditary mixed, 1 |
N/A |
N/A |
GenCC |
| Hypospadias |
Hypospadias |
N/A |
N/A |
GWAS |
| Pelvic Organ Prolapse |
Pelvic organ prolapse |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Coronary Syndrome |
Stimulate
|
27101443 |
| Adenocarcinoma of Lung |
Stimulate
|
22870311 |
| Adenocarcinoma of Lung |
Associate
|
32381040 |
| Adenoma |
Associate
|
12117880, 23155391, 23748100 |
| Adenomatous Polyposis Coli |
Associate
|
23805267, 32170005 |
| Albuminuria |
Associate
|
19577778 |
| Alzheimer Disease |
Associate
|
22870311 |
| Angina Stable |
Stimulate
|
27101443 |
| Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis |
Associate
|
31053735 |
| Attenuated familial adenomatous polyposis |
Associate
|
26493165 |
| Atypical Squamous Cells of the Cervix |
Associate
|
32096207 |
| Breast Neoplasms |
Associate
|
27449045, 30236106, 32141512 |
| Cap Myopathy |
Associate
|
29453410 |
| Carcinogenesis |
Associate
|
22561515, 26392110 |
| Carcinoma Basal Cell |
Associate
|
17003113, 28346486 |
| Carcinoma Hepatocellular |
Associate
|
22839096, 23826422 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
30236106 |
| Carcinoma Non Small Cell Lung |
Stimulate
|
26392110 |
| Carcinoma Renal Cell |
Associate
|
20042676, 20154727 |
| Carcinoma Squamous Cell |
Stimulate
|
28346486 |
| Carcinoma Transitional Cell |
Associate
|
34456216 |
| Cleft Lip |
Associate
|
29489415 |
| Cleft Palate |
Associate
|
29489415 |
| Cleft Soft Palate |
Associate
|
29489415 |
| Colitis Ulcerative |
Stimulate
|
33506258 |
| Colitis Ulcerative |
Associate
|
38070204 |
| Colonic Neoplasms |
Associate
|
32583331 |
| Colonic Polyps |
Associate
|
25992589, 29804199 |
| Colorectal Neoplasms |
Associate
|
12696020, 17923762, 20659471, 21655089, 22367214, 22505654, 23155391, 23659962, 24753543, 24812030, 25992589, 26208990, 26493165, 26947005, 29504907, 29804199, 32170005, 33476087, 33976257, 35812248, 35883579, 35893034, 36657129, 36800588, 37249599 View all (10 more) |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Associate
|
25992589, 29804199 |
| Diabetes Mellitus |
Associate
|
19577778, 37365645 |
| Diabetes Mellitus |
Stimulate
|
27101443 |
| Diabetes Mellitus Type 2 |
Stimulate
|
27101443 |
| Diabetes Mellitus Type 2 |
Associate
|
35893034 |
| Diabetic Foot |
Associate
|
37365645 |
| Diabetic Nephropathies |
Associate
|
20150533, 25378054, 26412030 |
| Diabetic Nephropathies |
Stimulate
|
31053735 |
| Endometriosis |
Stimulate
|
18314105 |
| Endometriosis |
Associate
|
38115253 |
| Esophageal Neoplasms |
Associate
|
29953975 |
| Esophageal Squamous Cell Carcinoma |
Stimulate
|
29953975 |
| Fibroma Desmoplastic |
Stimulate
|
24812030 |
| Fibrosis |
Associate
|
22839096, 24949470, 31053735, 37240308 |
| Glaucoma |
Associate
|
23748100 |
| Glioblastoma |
Associate
|
23826422 |
| Glomerulonephritis |
Associate
|
31053735 |
| Glucosephosphate Dehydrogenase Deficiency |
Associate
|
28522681 |
| Heart Failure |
Associate
|
32618141 |
| Hepatitis C Chronic |
Associate
|
22839096 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
16545136 |
| Hypospadias |
Associate
|
33962391 |
| Hypoxia |
Stimulate
|
20336693, 28522681 |
| Idiopathic Pulmonary Fibrosis |
Stimulate
|
16816361 |
| Infertility |
Associate
|
22160428 |
| Inflammation |
Associate
|
31053735, 37365645, 38070204 |
| Inflammatory Bowel Diseases |
Associate
|
33506258 |
| Intervertebral Disc Degeneration |
Associate
|
37700277 |
| Intestinal Polyposis |
Associate
|
23805267, 26947005 |
| Juvenile polyposis syndrome |
Associate
|
22561515 |
| Kidney Diseases |
Associate
|
20150533, 31053735 |
| Kidney Failure Chronic |
Associate
|
22505654 |
| Kidney Failure Chronic |
Stimulate
|
26412030 |
| Lead Poisoning Nervous System |
Associate
|
27713170 |
| Loeys Dietz Syndrome |
Stimulate
|
25116393 |
| Lung Diseases |
Associate
|
28522681 |
| Lung Neoplasms |
Associate
|
16234815, 34671675 |
| Lymphatic Metastasis |
Stimulate
|
31882551 |
| Lymphoma B Cell |
Associate
|
23826422 |
| Melanoma |
Stimulate
|
28346486 |
| Mesothelioma Malignant |
Associate
|
25757056 |
| Microsatellite Instability |
Associate
|
26493165 |
| Myotonic Dystrophy |
Stimulate
|
27101443 |
| Nasopharyngeal Carcinoma |
Associate
|
37365917 |
| Negative rheumatoid factor polyarthritis |
Associate
|
12696020 |
| Neoplasm Metastasis |
Associate
|
35883579 |
| Neoplasms |
Associate
|
12117880, 16234815, 16545136, 17003113, 20154727, 22514712, 22870311, 23155391, 23659962, 23800187, 23826422, 24299561, 26531827, 27931212, 28346486, 29396725, 30236106, 31882551, 32381040, 35874760, 37240308, 37605239, 39375386 View all (8 more) |
| Neoplasms |
Inhibit
|
20042676 |
| Neuroblastoma |
Associate
|
22160428, 27036124 |
| Obesity |
Associate
|
34296200 |
| Orofacial Cleft 1 |
Associate
|
38002937 |
| Osteoarthritis |
Stimulate
|
27794162 |
| Osteoarthritis |
Associate
|
37140355 |
| Osteoarthritis Knee |
Stimulate
|
27794162 |
| Ovarian Diseases |
Inhibit
|
22160428 |
| Pancreatic Neoplasms |
Associate
|
30272371 |
| Pilomatrixoma |
Associate
|
28346486 |
| Polyposis Syndrome Hereditary Mixed 1 |
Associate
|
12696020, 18313025, 22561515, 23805267, 25992589, 29804199 |
| Prostatic Neoplasms |
Associate
|
16234815 |
| Prostatitis |
Associate
|
37240308 |
| Pulmonary Arterial Hypertension |
Associate
|
28522681 |
| Renal Insufficiency Chronic |
Stimulate
|
24949470 |
| Renal Insufficiency Chronic |
Associate
|
31053735 |
| Rhabdomyosarcoma Alveolar |
Stimulate
|
23733015 |
| Rhabdomyosarcoma Embryonal |
Associate
|
23733015 |
| Sarcoma |
Stimulate
|
26531827 |
| Simpson Golabi Behmel syndrome |
Associate
|
22286531 |
| Skin Diseases |
Inhibit
|
27713170 |
| Skin Neoplasms |
Stimulate
|
28346486 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
18254958, 27931212 |
| Stomach Neoplasms |
Associate
|
16367923, 29396725, 31882551 |
| Tachycardia Atrioventricular Nodal Reentry |
Associate
|
29396725 |
| Triple Negative Breast Neoplasms |
Associate
|
23700430 |
| Ulcer |
Associate
|
37365645 |
| Urinary Bladder Neoplasms |
Associate
|
37605239, 39375386 |
| Uterine Cervical Neoplasms |
Stimulate
|
16545136 |
| Van der Woude syndrome |
Associate
|
29489415 |
| Vesico Ureteral Reflux |
Associate
|
22558067 |
| White Dot Syndromes |
Associate
|
31700227 |
|