|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Hypertrophic Osteoarthropathy |
hypertrophic osteoarthropathy, primary, autosomal dominant, hypertrophic osteoarthropathy, primary, autosomal recessive, 2 |
rs387907297, rs776813259, rs1559943990, rs1085307096, rs387906806, rs765249238, rs1559927542, rs774795340, rs751192029, rs370769816, rs1576428882, rs387907295, rs1576467025, rs387907296 |
N/A |
|
|
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 |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Enteropathy Associated With SLCO2A1 Gene |
chronic enteropathy associated with SLCO2A1 gene |
N/A |
N/A |
GenCC |
| Pachydermoperiostosis Syndrome |
pachydermoperiostosis |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| 3C syndrome |
Stimulate
|
21383546 |
| Adenoma |
Associate
|
24099521 |
| Alzheimer Disease |
Associate
|
18353443 |
| Anemia |
Associate
|
29313109, 33328413, 33852188, 35611666 |
| Aortic Dissection |
Associate
|
36818541 |
| Arthralgia |
Associate
|
33852188, 37226222 |
| Atresia of small intestine |
Associate
|
26539716, 30400730, 37077520 |
| Autoimmune enteropathy |
Associate
|
30065566 |
| Behcet Syndrome |
Associate
|
32092751 |
| Breast Neoplasms |
Associate
|
35617355 |
| Carcinoma Hepatocellular |
Associate
|
21383546, 33988674 |
| Chronic Disease |
Associate
|
26539716, 29313109, 30400730, 31011259, 31611528, 32092751, 32943023, 33166338, 33328413, 35185052, 35611666, 36480694, 36907595, 37077520 |
| Clubfoot |
Associate
|
24838973 |
| Colitis Ulcerative |
Associate
|
30065566, 32943023, 36480694 |
| Colonic Diseases |
Associate
|
24838973 |
| Colonic Neoplasms |
Associate
|
21383546 |
| Colorectal Neoplasms |
Associate
|
24694755, 24838973, 35416128 |
| Congenital Hereditary and Neonatal Diseases and Abnormalities |
Associate
|
36480694 |
| Constriction Pathologic |
Associate
|
36480694, 36907595 |
| Crohn Disease |
Associate
|
26539716, 29313109, 36480694 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
32278009 |
| Ductus Arteriosus Patent |
Associate
|
26265282 |
| Eosinophilic enteropathy |
Associate
|
37077520 |
| Fanconi Syndrome |
Associate
|
32278009 |
| Fibrosis |
Associate
|
40160813 |
| Gastroesophageal Reflux |
Associate
|
32784296 |
| Gastrointestinal Hemorrhage |
Stimulate
|
28425581 |
| Gastrointestinal Hemorrhage |
Associate
|
32943023 |
| Hyponatremia |
Associate
|
28783044 |
| Hypoproteinemia |
Associate
|
35185052 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
12100034 |
| Ileal Diseases |
Associate
|
33328413 |
| Inflammation |
Associate
|
40160813 |
| Intestinal Diseases |
Associate
|
30065566, 32092751, 35611666 |
| Intestinal Polyposis |
Associate
|
32092751 |
| Joint Diseases |
Associate
|
28425581 |
| Lung Neoplasms |
Associate
|
26464663 |
| Nail dysplasia isolated congenital |
Associate
|
36833358 |
| Neoplasms |
Associate
|
21383546, 24838973, 26464663, 32103057, 33081378 |
| Neoplasms |
Inhibit
|
33619025 |
| Neoplastic Syndromes Hereditary |
Associate
|
26539716, 31011259 |
| Optic Nerve Diseases |
Associate
|
40160813 |
| Osteoarthropathy Primary Hypertrophic |
Associate
|
22197487, 24838973, 27134495, 28425581, 28851954, 29313109, 31611528, 33328413, 33852188, 34027406, 35611666, 35813463, 37226222, 39607761 |
| Osteoarthropathy Secondary Hypertrophic |
Associate
|
28425581 |
| Pancreatic Neoplasms |
Stimulate
|
23307416 |
| Pre Eclampsia |
Associate
|
36982197 |
| Prostate Cancer Hereditary 7 |
Associate
|
33619025 |
| Prostatic Neoplasms |
Associate
|
33619025 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
23137910 |
| Stomach Neoplasms |
Associate
|
30702489, 33081378, 33440718, 36044785 |
| Thyroid cancer follicular |
Associate
|
24099521 |
| Tooth Loss |
Associate
|
26539716 |
| Ulcer |
Associate
|
31611528, 32943023, 33166338 |
|