|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Arterial Calcification |
arterial calcification, generalized, of infancy, 1 |
rs374270497, rs1585841844, rs121918024, rs387906673, rs121918025, rs753851892, rs121918026, rs121908248, rs373044722, rs267606784, rs1562523328, rs121918023, rs1401810953, rs1554203715 |
N/A |
| Hypophosphatemic Rickets |
hypophosphatemic rickets, autosomal recessive, 2 |
rs121908248, rs1554278331, rs587776797, rs121908249, rs373044722 |
N/A |
| Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome |
hypopigmentation-punctate palmoplantar keratoderma syndrome |
rs397518475, rs397518476, rs397518477 |
N/A |
| Coronary Sclerosis |
coronary sclerosis, medial, of infancy |
rs121918025, rs756541266 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acrophobia |
Associate
|
28381371 |
| Anemia Sickle Cell |
Associate
|
23422753 |
| Angioid Streaks |
Associate
|
22209248 |
| Arterial calcification of infancy |
Associate
|
11159191, 20137773, 22209248, 23746223, 29976176, 31444901, 31826312, 34355424, 35340077, 35482848 |
| Arthralgia |
Associate
|
29103441 |
| Arthritis Rheumatoid |
Inhibit
|
11168012 |
| Auriculo condylar syndrome |
Associate
|
28381371 |
| Bone Diseases |
Associate
|
21738662 |
| Breast Neoplasms |
Associate
|
25201346, 26065921, 33838601, 35191482, 38117852 |
| Breast Neoplasms |
Stimulate
|
36761762 |
| Calcinosis |
Associate
|
11352238, 16207325, 16207345, 20137772, 24075184, 31444901, 31646622, 35482848 |
| Calcinosis |
Inhibit
|
20015201 |
| Carcinoma Ovarian Epithelial |
Associate
|
33635867 |
| Cardiomyopathies |
Associate
|
29976176 |
| Cardiovascular Abnormalities |
Associate
|
31444901 |
| Cardiovascular Diseases |
Associate
|
21282363, 23012391, 34355424 |
| Cell Transformation Neoplastic |
Associate
|
38117852 |
| Charcot Marie Tooth Disease |
Associate
|
28860329 |
| Chronic Kidney Disease Mineral and Bone Disorder |
Associate
|
22229486, 33271541 |
| Colorectal Neoplasms |
Associate
|
23036011 |
| Colorectal Neoplasms |
Inhibit
|
23036011 |
| Coronary Artery Disease |
Associate
|
30985656 |
| Cystadenoma Serous |
Stimulate
|
33635867 |
| Death |
Associate
|
20016754 |
| Dental Plaque |
Inhibit
|
20015201 |
| Dentofacial Deformities |
Associate
|
27519661 |
| Diabetes Complications |
Associate
|
18176722, 19656007 |
| Diabetes Gestational |
Associate
|
25222839 |
| Diabetes Mellitus |
Associate
|
17228024, 18176722, 18426862, 19017751, 20428609, 20958205, 21282363, 26958016 |
| Diabetes Mellitus Type 2 |
Associate
|
16025115, 18176722, 18426862, 18498634, 18551113, 18678618, 18719658, 18950909, 19017751, 19656007, 23012391, 23527042, 25368487, 25463099, 26065921, 26958016 View all (1 more) |
| Diabetes Mellitus Type 2 |
Inhibit
|
25539584 |
| Diabetic Angiopathies |
Associate
|
18950909 |
| Dyschromatosis symmetrica hereditaria 1 |
Associate
|
28964717 |
| Endplate Acetylcholinesterase Deficiency |
Associate
|
25372418 |
| Enthesopathy |
Associate
|
31826312 |
| Epiphyseal dysplasia multiple 1 |
Associate
|
11352238 |
| Facial Asymmetry |
Associate
|
29103441 |
| Familial Hypophosphatemic Rickets |
Associate
|
35340077 |
| Fetal Macrosomia |
Associate
|
30618040 |
| Genetic Diseases Inborn |
Associate
|
24075184, 31444901 |
| Glioblastoma |
Associate
|
24531536 |
| Glucose Intolerance |
Associate
|
16025115 |
| Glucose Metabolism Disorders |
Associate
|
23633196 |
| Hydrops Fetalis |
Associate
|
29976176 |
| Hyperglycemia |
Associate
|
18426862 |
| Hyperostosis Diffuse Idiopathic Skeletal |
Associate
|
35340077 |
| Hyperparathyroidism Primary |
Associate
|
31826312 |
| Hypertension |
Associate
|
23036011, 29976176 |
| Hypertriglyceridemia |
Associate
|
19656007 |
| Hypophosphatasia |
Associate
|
22703652 |
| Hypophosphatemia Familial |
Associate
|
20137772 |
| Hypophosphatemic Bone Disease |
Associate
|
34355424 |
| Hypophosphatemic Rickets Autosomal Recessive 2 |
Associate
|
20137772, 20137773, 31826312, 34355424, 35340077, 35899574 |
| Infections |
Associate
|
31444901 |
| Inflammation |
Associate
|
35191482 |
| Insulin Resistance |
Associate
|
16025115, 18426862, 18583883, 18950909, 19656007, 20428609, 21282363, 23036011, 25368487, 25463099, 33271541, 34872092 |
| Intervertebral Disc Displacement |
Associate
|
29103441 |
| Kidney Neoplasms |
Associate
|
33271541 |
| Lung Neoplasms |
Stimulate
|
36761762 |
| Malnutrition |
Associate
|
23036011 |
| Mandibular Injuries |
Associate
|
29103441 |
| Masticatory Muscles Hypertrophy of |
Associate
|
29103441 |
| Monckeberg Medial Calcific Sclerosis |
Associate
|
20015201 |
| Multiple Myeloma |
Associate
|
37105956 |
| Myocardial Ischemia |
Associate
|
20428609 |
| Neoplasm Metastasis |
Associate
|
38117852 |
| Neoplasms |
Associate
|
32880385, 33402044, 33635867, 33838601, 35191482, 35806118, 36761762, 38117852 |
| Neoplasms Adipose Tissue |
Associate
|
18426862, 23012391, 34872092 |
| Neural Tube Defects |
Associate
|
24332798 |
| Obesity |
Associate
|
16025115, 17228024, 18464750, 18498634, 18551113, 18719658, 18776139, 18948963, 19656007, 21282363, 23375129, 31350533 |
| Obesity Morbid |
Associate
|
18551113 |
| Oculodentodigital Dysplasia |
Associate
|
28381371 |
| Odontogenic Cyst Calcifying |
Inhibit
|
20015201 |
| Organizing Pneumonia |
Associate
|
34355424 |
| Ossification of Posterior Longitudinal Ligament |
Associate
|
35340077 |
| Osteoarthritis |
Associate
|
16207325, 16207345, 20109188, 24004678 |
| Osteoarthritis |
Stimulate
|
20353559 |
| Osteochondritis |
Associate
|
11352238 |
| Ovarian Diseases |
Associate
|
32880385 |
| Ovarian Neoplasms |
Stimulate
|
33635867, 36761762 |
| Overweight |
Associate
|
18776139, 18948963, 31350533 |
| Plaque Atherosclerotic |
Inhibit
|
20015201 |
| Polycystic Ovary Syndrome |
Associate
|
15374726 |
| Polymyalgia Rheumatica |
Associate
|
11159191 |
| Progeria |
Associate
|
21738662 |
| Pseudoxanthoma Elasticum |
Associate
|
22209248, 22229486, 25264593, 31444901, 31646622, 35482848 |
| Renal Insufficiency |
Associate
|
35191482 |
| Rickets |
Associate
|
33005041, 34355424 |
| Rickets Hypophosphatemic |
Associate
|
20137773, 31444901 |
| Sarcoma Ewing |
Associate
|
38113033 |
| Skin Diseases |
Associate
|
22209248 |
| Stroke |
Associate
|
23422753, 24338010 |
| Temporomandibular Joint Disorders |
Associate
|
27519661, 29103441 |
| Thrombocytopenia |
Associate
|
31444901 |
| Uniparental Disomy |
Associate
|
35482848 |
| Uterine Cervicitis |
Associate
|
25372418 |
| Vascular Calcification |
Associate
|
16207325, 20016754, 20137773, 21738662, 22229486, 29976176, 34355424, 37558402 |
| Weight Gain |
Associate
|
31350533 |
|