|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| focal segmental glomerulosclerosis |
Focal segmental glomerulosclerosis |
rs1589475328 |
N/A |
| Nephrotic Syndrome |
nephrotic syndrome, type 3, nephrotic syndrome |
rs1589475328, rs876657369, rs121912601, rs121912602, rs1589413498, rs876657370, rs895782232, rs121912603, rs1589433172, rs121912604, rs1589509476, rs121912605, rs267606953, rs267606954, rs267606955 |
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 |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Glaucoma |
Glaucoma |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (confirmatory factor analysis Factor 12), Hypertension (PheCode 401), High blood pressure / hypertension, Hypertension |
N/A |
N/A |
GWAS |
| Intracranial Aneurysm |
Intracranial aneurysm |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| polycystic kidney disease |
Polycystic kidney disease |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
30931333 |
| Carcinogenesis |
Associate
|
23077637, 23390063, 24254309, 24935391, 25041015, 25434319 |
| Carcinoma Hepatocellular |
Associate
|
28418898, 32323856, 34967552 |
| Carcinoma Non Small Cell Lung |
Associate
|
31364122, 35220468 |
| Cardiotoxicity |
Inhibit
|
28851949 |
| Colitis Ulcerative |
Associate
|
37843347 |
| Colorectal Neoplasms |
Inhibit
|
21909432 |
| Colorectal Neoplasms |
Associate
|
24146276, 24496148, 34959120, 35349390, 37843347 |
| Death |
Associate
|
28418898 |
| Diabetic Nephropathies |
Inhibit
|
37916327 |
| Esophageal Neoplasms |
Associate
|
21427165, 21689432, 22412849, 23390063, 24867265, 24935391, 25422186, 25854357, 26176862, 30450849, 30931333, 32869542 |
| Esophageal Neoplasms |
Stimulate
|
25041015 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
20729852, 21689432, 22805490, 22865593, 23390063, 24867265, 25008389, 25041015, 25139097, 26657507, 33162810, 33650665 |
| Esophageal Squamous Cell Carcinoma |
Stimulate
|
28849204 |
| Esophagitis |
Associate
|
23390063 |
| Essential Hypertension |
Associate
|
32555714 |
| Gallbladder Neoplasms |
Associate
|
24863943 |
| Gastritis Atrophic |
Associate
|
23077637 |
| Gastrointestinal Neoplasms |
Associate
|
22805490 |
| Glaucoma |
Associate
|
31816047 |
| Glomerulosclerosis Focal Segmental |
Associate
|
18975016, 20591883 |
| Helicobacter Infections |
Associate
|
24069371 |
| Hypertension |
Associate
|
28851949, 37175507 |
| Inflammation |
Associate
|
23077637, 23390063, 24069371, 28849204 |
| Kidney Failure Chronic |
Associate
|
18975016 |
| Lung Neoplasms |
Associate
|
26176862 |
| Macular Degeneration |
Associate
|
31816047 |
| Mesangial sclerosis diffuse |
Associate
|
18975016, 19037252, 20591883, 21365190 |
| Mitochondrial Diseases |
Associate
|
21365190 |
| Mitral Valve Insufficiency |
Stimulate
|
27907007 |
| Neoplasm Metastasis |
Associate
|
26657507, 28849204 |
| Neoplasms |
Associate
|
20729852, 24496148, 24935391, 25434319, 26176862, 26320491, 26657507, 26683024, 27127881, 28418898, 30931333, 32777176, 34967552, 35349390, 35765945 |
| Neoplasms |
Inhibit
|
22412849 |
| Neoplasms |
Stimulate
|
25041015 |
| Neoplasms Squamous Cell |
Associate
|
22805490 |
| Nephronophthisis 3 |
Associate
|
31922211 |
| Nephrosis congenital |
Associate
|
31013750 |
| Nephrotic Syndrome |
Associate
|
18975016, 20591883, 23349334, 24742477, 29058690, 29127259, 35920919, 37670083 |
| Oropharyngeal Neoplasms |
Associate
|
21689432 |
| Osteosarcoma |
Associate
|
35765945 |
| Pulmonary Arterial Hypertension |
Associate
|
37176017 |
| Retinal Detachment |
Associate
|
31816047 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
21689432, 33162810 |
| Stomach Neoplasms |
Associate
|
20729852, 21427165, 21689432, 22412849, 22805490, 23077637, 24069371, 24254309, 24867265, 25434319, 25658482, 26176862, 27127881, 29983348, 30931333, 32777176 View all (1 more) |
|