|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| ayme-gripp syndrome |
Ayme-Gripp syndrome |
rs727502768, rs727502771, rs727502770, rs727502769, rs727502767, rs727502766 |
N/A |
| Cataract |
Cataract 21 multiple types, Developmental cataract |
rs786205221, rs786205222, rs864309692, rs121917735, rs864309695, rs121917736, rs864309678, rs1057518878, rs1481963503 |
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 |
| Dental caries |
Dental caries |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Microcornea |
cataract - microcornea syndrome |
N/A |
N/A |
GenCC |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Pulverulent Cataract |
pulverulent cataract |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
37280312 |
| Alzheimer Disease |
Associate
|
34852950, 40139278 |
| Arteriolosclerosis |
Associate
|
34852950 |
| Asthma |
Associate
|
30087444 |
| Breast Neoplasms |
Associate
|
34272498 |
| Carcinoma Non Small Cell Lung |
Associate
|
32175921 |
| Carcinoma Renal Cell |
Associate
|
37224458 |
| Cartilage Diseases |
Stimulate
|
19215682 |
| Cataract |
Associate
|
12642301, 25865493, 29914532, 37203095, 38180241 |
| Cataract microcornea syndrome |
Associate
|
12642301 |
| Cerebral Infarction |
Associate
|
36802116 |
| Cognition Disorders |
Associate
|
40139278 |
| Colitis Ulcerative |
Stimulate
|
23695510 |
| Coloboma |
Associate
|
12642301 |
| COVID 19 |
Associate
|
33312178 |
| Craniosynostoses |
Associate
|
25865493 |
| Cytomegalovirus Infections |
Stimulate
|
37203095 |
| Deafness |
Associate
|
25865493 |
| Dementia |
Associate
|
34852950 |
| Down Syndrome |
Associate
|
25865493 |
| Endometriosis |
Associate
|
28300844 |
| Eye Abnormalities |
Associate
|
25865493 |
| Familial Primary Pulmonary Hypertension |
Associate
|
36899621 |
| Fibrocystic Breast Disease |
Associate
|
25865493 |
| Gastrointestinal Stromal Tumors |
Associate
|
21192842 |
| Hashimoto Disease |
Associate
|
32595646 |
| Hearing Loss Sensorineural |
Associate
|
25865493 |
| Hodgkin Disease |
Associate
|
17158640 |
| Hypertrophy |
Associate
|
19215682 |
| Infections |
Associate
|
21244576 |
| Inflammation |
Associate
|
33312178, 35280993 |
| Influenza Human |
Associate
|
25865493, 34217267 |
| Intellectual Disability |
Associate
|
25865493 |
| Iridogoniodysgenesis and skeletal anomalies |
Associate
|
25865493 |
| Iris Diseases |
Associate
|
12642301 |
| Leiomyosarcoma |
Associate
|
21192842 |
| Leukemia Hairy Cell |
Associate
|
19687312 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
19687312 |
| limbic predominant age related TDP 43 encephalopathy |
Associate
|
34852950 |
| Lymphoma |
Associate
|
19687312 |
| Lymphoma Extranodal NK T Cell |
Associate
|
19687312 |
| Lymphoma T Cell |
Stimulate
|
28944848 |
| Multiple Myeloma |
Associate
|
11418483, 14531906, 16728703, 17550853, 17914559, 19013005, 19446321, 19687312, 21163924, 21173094, 22689675, 24638926, 26728187, 27793878, 28933784, 28944848, 29463311, 29467225, 31218784, 31822558, 37224458, 37879249, 9616139 View all (8 more) |
| Multiple Sclerosis |
Associate
|
35383094 |
| Multiple System Atrophy |
Associate
|
25865493 |
| Neoplasm Metastasis |
Associate
|
34272498 |
| Neoplasms |
Associate
|
18381641, 21668942, 23741392, 32175921, 34377934, 37224458 |
| Neoplasms |
Inhibit
|
26694163 |
| Nephrosis Lipoid |
Associate
|
14688382, 28944848 |
| Neurodevelopmental Disorders |
Associate
|
25865493 |
| Obesity |
Associate
|
23840443 |
| Osteoarthritis |
Associate
|
19215682 |
| Polycystic Ovary Syndrome |
Associate
|
37967238 |
| Primary Myelofibrosis |
Associate
|
28745329 |
| Seizures |
Associate
|
25865493 |
| Soft Tissue Neoplasms |
Associate
|
29463311 |
| Spherocytosis Type 1 |
Associate
|
34852950 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
26694163, 34356658 |
| Uveal Diseases |
Associate
|
12642301 |
| Uveal melanoma |
Associate
|
12642301 |
| Weight Gain |
Associate
|
23840443 |
|