|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Thiamine Responsive Megaloblastic Anemia Syndrome |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
rs74315373, rs761957186, rs1571537544, rs199921604, rs28937595, rs763099442, rs74315374, rs1557894839, rs1571532822, rs1401027751, rs752104654, rs1571537879, rs74315375, rs1234256852, rs1553211899 |
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 |
| Hypertension |
Chronic venous hypertension (PheCode 453) |
N/A |
N/A |
GWAS |
| Monogenic Diabetes |
monogenic diabetes |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alstrom Syndrome |
Associate
|
28432734 |
| Anemia |
Associate
|
23454484, 24072090 |
| Anemia Megaloblastic |
Associate
|
10978358, 17463047, 19643445, 28504500, 30833467, 31338833, 33571483, 33649974, 39467528 |
| Anemia Megaloblastic |
Stimulate
|
9399900 |
| Anemia Sideroblastic |
Associate
|
38360212 |
| Cerebral Infarction |
Associate
|
31296181 |
| Deafness |
Associate
|
11380424, 31338833, 31638924, 9399900 |
| Deglutition Disorders |
Associate
|
31638924 |
| Diabetes Mellitus |
Associate
|
11380424, 23454484, 24072090, 26839896, 29969779, 30833467, 31276222, 31338833, 33498041, 33571483, 39467528 |
| Diabetes Mellitus |
Stimulate
|
9399900 |
| Diabetes Mellitus Transient Neonatal 1 |
Associate
|
33498041 |
| Diabetes Mellitus Type 1 |
Associate
|
31276222, 31951336, 31951337, 33571483 |
| Diabetes Mellitus Type 2 |
Associate
|
31638168 |
| Distal myopathy Nonaka type |
Associate
|
33571483 |
| Escherichia coli Infections |
Associate
|
19628653 |
| Genetic Diseases Inborn |
Associate
|
30833467, 31144472 |
| Hearing Loss |
Associate
|
23454484, 24072090 |
| Hearing Loss Sensorineural |
Associate
|
29969779, 30833467, 33571483, 39467528 |
| Infections |
Associate
|
31638924 |
| Iron Deficiencies |
Associate
|
38360212 |
| Maturity Onset Diabetes of the Young Type 2 |
Associate
|
30833467 |
| Mitochondrial Diseases |
Associate
|
30833467 |
| Multiple Organ Failure |
Associate
|
31638924 |
| Neoplasms |
Associate
|
25788274 |
| Optic Atrophy |
Associate
|
30511554 |
| Osteoarthritis |
Associate
|
38292759 |
| Osteoporosis |
Associate
|
32498429 |
| Osteoporotic Fractures |
Associate
|
32498429 |
| Retinal Degeneration |
Associate
|
10978358 |
| Sepsis |
Associate
|
31638924 |
| Thiamine Deficiency |
Associate
|
10978358, 9399900 |
| Thiamine responsive megaloblastic anemia syndrome |
Associate
|
10978358, 11380424, 12065289, 17463047, 19643445, 23454484, 24072090, 28432734, 28504500, 29903777, 29969779, 30511554, 31144472, 31296181, 31638924, 31951336, 31951337, 33649974, 38391342, 39467528 View all (5 more) |
| Thrombocytopenia |
Associate
|
31951336, 31951337 |
| Ventricular Premature Complexes |
Associate
|
31296181 |
| Vision Disorders |
Associate
|
29969779 |
| Wolfram Syndrome |
Associate
|
28432734 |
| Wolfram Syndrome 2 |
Associate
|
28432734 |
|