|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Hyperparathyroidism |
hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors |
rs1057519419, rs80356649, rs587776559, rs1558280170, rs121434264, rs80356650, rs28942098, rs121434262, rs587776558 |
N/A |
| Parathyroid carcinoma |
parathyroid carcinoma |
rs1553278844, rs760591174, rs1558280170, rs1060500009, rs1553279085, rs80356649, rs1060500015, rs1558276082, rs587776560, rs1677132309, rs1060500020, rs1558276054, rs121434263, rs587776561, rs1060500019, rs1558276157, rs80356650, rs1060500012, rs1572152420, rs121434264, rs794727303, rs1572150469, rs1131691698, rs121434265, rs770439843, rs1131691732, rs1572150584, rs1572154885, rs886041158, rs1553279088, rs1572215344, rs886041278, rs1553288362, rs121434262, rs587776558, rs1572142597 View all (21 more) |
N/A |
| Ossifying fibroma of the jaw |
ossifying fibroma of the jaw |
rs1057519385, rs1057519384 |
N/A |
| Parathyroid Adenoma |
Cystic parathyroid adenoma |
rs587776557 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acrospiroma |
Associate
|
37339334 |
| Adenoma |
Associate
|
16995822, 23029479, 24340015, 24823466 |
| Adenoma |
Inhibit
|
18080135, 26658808 |
| Adenoma Oxyphilic |
Stimulate
|
23361235 |
| Albuminuria |
Associate
|
30547231 |
| Aortic Aneurysm Thoracic |
Associate
|
24823466 |
| Bone Diseases |
Associate
|
37807045 |
| Breast Neoplasms |
Associate
|
26832176, 35551175 |
| Carcinogenesis |
Associate
|
12960210, 17923126, 23361235, 23435613, 32780442, 36611251, 37121965 |
| Carcinoma |
Associate
|
30452964, 36153594 |
| Carcinoma Ovarian Epithelial |
Associate
|
26409451 |
| Carcinoma Renal Cell |
Associate
|
23361235, 25970683 |
| Cerebrooculofacioskeletal Syndrome 1 |
Associate
|
37995913 |
| Colonic Neoplasms |
Associate
|
23991985 |
| Colorectal Neoplasms |
Associate
|
23991985 |
| Endocrine Gland Neoplasms |
Associate
|
7717405 |
| Fibroma Ossifying |
Associate
|
24842573, 29040582, 35220546, 36928741 |
| Fibrous Dysplasia of Bone |
Associate
|
23453027, 35220546 |
| Gastritis |
Inhibit
|
18080135 |
| Genetic Diseases Inborn |
Associate
|
29142233 |
| Glutaric Acidemia I |
Stimulate
|
30373905 |
| Head and Neck Neoplasms |
Inhibit
|
26409451 |
| Hemorrhage |
Associate
|
30452964 |
| Hyperlipidemias |
Associate
|
22369086 |
| Hyperparathyroidism |
Associate
|
14585940, 16995822, 17065424, 28394026 |
| Hyperparathyroidism 1 |
Associate
|
12960210, 14985373, 16061557, 16995822, 18987311, 22187299, 24121387, 24823466, 29036195 |
| Hyperparathyroidism 2 |
Associate
|
12960210, 14585940, 15606373, 16061557, 18987311, 19906718, 21360064, 24121387, 24340015, 24823466, 24842573, 25444225, 25959515, 29040582, 29142233, 29217931, 29225260, 29324469, 29739732, 30452964, 36153594, 37339334, 7717405, 9973288 View all (9 more) |
| Hyperparathyroidism 2 |
Inhibit
|
23361235 |
| Hyperparathyroidism Primary |
Associate
|
16995822, 17065424, 19092296, 24121387, 24340015, 24823466, 25959515, 28394026, 29040582, 29408534, 32590342, 36777354, 37339334, 37465121, 39620181 |
| Hyperplasia |
Associate
|
19107770 |
| Jaw Neoplasms |
Associate
|
36153594 |
| Kidney Diseases |
Associate
|
37807045 |
| Kidney Neoplasms |
Associate
|
25970683, 37339334 |
| Lymphatic Metastasis |
Associate
|
26124004 |
| Mandibular Neoplasms |
Associate
|
24842573 |
| Menorrhagia |
Associate
|
15606373 |
| Multiple Endocrine Neoplasia Type 1 |
Associate
|
24121387, 29036195 |
| Myocardial Infarction |
Associate
|
22369086 |
| Neoplasm Metastasis |
Associate
|
18080135, 21240254, 26409451, 29324469 |
| Neoplasms |
Associate
|
12960210, 14585940, 21360064, 23029479, 23361235, 23453027, 25959515, 26124004, 26409451, 28352668, 29324469, 30452964, 30923346, 32780442, 34424918, 34706517, 35551175, 37121965 View all (3 more) |
| Neoplasms |
Inhibit
|
15606373, 16995822, 17065424, 17923126, 19136632, 20614331, 22454399, 23029104, 23435613, 24257751, 24340015, 24842573, 25959515, 29142233, 30799315 |
| Nephrocalcinosis |
Associate
|
37807045 |
| Nephrolithiasis |
Associate
|
37807045 |
| Osteitis Fibrosa Cystica |
Associate
|
39620181 |
| Osteosarcoma |
Associate
|
23453027 |
| Ovarian Neoplasms |
Inhibit
|
26409451 |
| Ovarian Neoplasms |
Associate
|
30485824 |
| Parathyroid Neoplasms |
Associate
|
12960210, 14585940, 16995822, 18080135, 18987311, 19092296, 19906718, 20614331, 21240254, 21360064, 21521290, 22454399, 23029104, 23029479, 24121387, 24340015, 24823466, 28352668, 29040582, 29324469, 29408534, 29739732, 30373905, 30567092, 30799315, 30923346, 32590342, 32761341, 32780442, 36284286, 36611251, 36777354, 37121965, 37339334, 38237426, 39620181 View all (21 more) |
| Parathyroid Neoplasms |
Inhibit
|
19107770, 19136632, 23435613, 26658808, 30799315 |
| Polyps |
Associate
|
37339334 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit
|
24257751 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
26124004 |
| Stomach Neoplasms |
Inhibit
|
18080135, 23991985, 26124004 |
| Syndrome |
Associate
|
17065424 |
| Triple Negative Breast Neoplasms |
Associate
|
35551175 |
| Uterine Neoplasms |
Associate
|
15606373 |
| Wilms Tumor |
Associate
|
40340749 |
|