|
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 |
| Mental retardation |
Intellectual disability, autosomal dominant 14 |
N/A |
N/A |
ClinVar |
| Migraine with Aura |
Migraine with aura |
N/A |
N/A |
GWAS |
| Nephrotic Syndrome |
familial idiopathic steroid-resistant nephrotic syndrome |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma Clear Cell |
Associate
|
19151661 |
| Adenocarcinoma of Lung |
Associate
|
23899839, 34845792, 38517776 |
| Albuminuria |
Associate
|
24103534 |
| Arrhythmogenic Right Ventricular Dysplasia |
Associate
|
27613243 |
| Brain Neoplasms |
Stimulate
|
25885339 |
| Breast Neoplasms |
Associate
|
17052974, 17873890, 21078666, 30258071, 32265507, 9508771 |
| Breast Neoplasms |
Stimulate
|
31054253 |
| Burkitt Lymphoma |
Associate
|
27155012 |
| Carcinogenesis |
Associate
|
17151021 |
| Carcinoma Non Small Cell Lung |
Associate
|
25299231, 29251177, 36476259 |
| Carcinoma Pancreatic Ductal |
Associate
|
31967944 |
| Carcinoma Squamous Cell |
Associate
|
27613525 |
| Cholangiocarcinoma |
Associate
|
34509526 |
| Chromosome Aberrations |
Associate
|
15780077 |
| Colorectal Neoplasms |
Associate
|
17873890, 25860875 |
| Death |
Associate
|
23899839, 27613525, 28385383, 32265507, 37226638 |
| Diabetic Nephropathies |
Associate
|
18552466, 22629296, 27613243, 28990106 |
| Endometriosis |
Associate
|
19055724 |
| Esophageal Neoplasms |
Associate
|
17960614 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
17960614 |
| Gastrointestinal Stromal Tumors |
Associate
|
32736695 |
| Glomerulonephritis IGA |
Associate
|
23890478 |
| Glomerulosclerosis Focal Segmental |
Associate
|
12617336, 15780077, 18164029, 22351778, 22965004, 27977723, 27998979, 29138824, 31930129 |
| Hematuria Benign Familial |
Associate
|
29138824 |
| Inflammation |
Associate
|
36974749 |
| Kidney Diseases |
Associate
|
18164029, 18552466, 19357256, 19652713, 25918384, 27998979, 31930129 |
| Kidney Failure Chronic |
Associate
|
22965004 |
| Leukemia Myeloid |
Associate
|
33454316 |
| Lung Neoplasms |
Associate
|
17873890, 25299231, 25885339, 29251177 |
| Lymphatic Metastasis |
Stimulate
|
17960614 |
| Lymphatic Metastasis |
Associate
|
32801264, 32855746, 37226638 |
| Melanoma |
Associate
|
25296750, 29274473 |
| Mesangial sclerosis diffuse |
Inhibit
|
18552466 |
| Nasopharyngeal Carcinoma |
Stimulate
|
35568845 |
| Neoplasm Invasiveness |
Associate
|
25296750 |
| Neoplasm Metastasis |
Associate
|
17151021, 28581489, 31889512, 32265507, 32801264, 35568845, 37226638 |
| Neoplasm Metastasis |
Stimulate
|
25860875 |
| Neoplasms |
Associate
|
17151021, 19151661, 21408150, 24574362, 25265318, 25299231, 27613525, 28385383, 28748856, 29966326, 30258071, 31054253, 31889512, 31967944, 32265507, 32801264, 36476259, 37226638, 9508771 View all (4 more) |
| Neoplasms |
Stimulate
|
17960614, 25860875 |
| Neoplasms Cystic Mucinous and Serous |
Stimulate
|
17873890 |
| Neoplastic Syndromes Hereditary |
Associate
|
31922211 |
| Nephronophthisis 3 |
Associate
|
31922211 |
| Nephrosis congenital |
Associate
|
23890478 |
| Nephrosis Lipoid |
Associate
|
36293475 |
| Nephrotic Syndrome |
Associate
|
16050398, 21415313, 23890478, 31930129, 35920919, 37014572 |
| Obesity |
Associate
|
26147062 |
| Ovarian Neoplasms |
Associate
|
17873890, 18362906, 19151661, 25265318 |
| Overweight |
Stimulate
|
26147062 |
| Pancreatic Neoplasms |
Associate
|
19373808, 25602965, 26850699 |
| Peritonitis |
Associate
|
18362906 |
| Precancerous Conditions |
Associate
|
25215525 |
| Prodromal Symptoms |
Associate
|
28385383 |
| Prostatic Neoplasms |
Associate
|
17052974, 31941606 |
| Prostatic Neoplasms |
Inhibit
|
17151021 |
| Prostatic Neoplasms Castration Resistant |
Stimulate
|
31941606 |
| Proteinuria |
Associate
|
18552466, 27998979 |
| Pulmonary Arterial Hypertension |
Associate
|
36974749 |
| Renal Insufficiency Chronic |
Associate
|
32957963 |
| Salivary Gland Neoplasms |
Associate
|
24574362 |
| Small Cell Lung Carcinoma |
Associate
|
12093915, 36476259 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
32801264 |
| Stomach Neoplasms |
Associate
|
28581489 |
| Thymoma |
Associate
|
34219124 |
| Tongue Neoplasms |
Associate
|
28385383 |
| Urologic Neoplasms |
Associate
|
37226638 |
| Uterine Cervical Dysplasia |
Associate
|
19373808, 31889512 |
| Uterine Cervical Neoplasms |
Associate
|
25215525, 32855746, 34998421 |
| Vascular Diseases |
Associate
|
36974749 |
|