|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Nail-Patella Syndrome |
nail-patella syndrome |
rs1588309277, rs1057516196, rs1588307464, rs121909486, rs1114167362, rs1588307482, rs121909487, rs1554721879, rs1588309269, rs121909488, rs1554728698, rs1588309293, rs121909489, rs1191455921, rs1588257904, rs121909490, rs1588307460, rs121909491, rs1564143881, rs1588307477, rs1427331961, rs1564169730, rs1588307486, rs121909492, rs1588307501, rs864621969, rs1588307152, rs1056252582, rs886039576 View all (14 more) |
N/A |
| Nephrotic Syndrome |
nephrotic syndrome |
rs1191455921 |
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 |
| Breast cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| focal segmental glomerulosclerosis |
Focal segmental glomerulosclerosis |
N/A |
N/A |
ClinVar |
| Glaucoma |
Glaucoma |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Nail patella-like renal disease |
nail-patella-like renal disease |
N/A |
N/A |
GenCC |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Absent patella |
Associate
|
37930140 |
| Anonychia onychodystrophy |
Associate
|
37930140 |
| Autistic Disorder |
Associate
|
21901133 |
| Bone Diseases |
Associate
|
26395556 |
| Chorea |
Associate
|
32949189 |
| Chromosome Disorders |
Associate
|
26395556 |
| Clubfoot |
Associate
|
37930140 |
| Esophageal Neoplasms |
Associate
|
31545286 |
| Flatfoot |
Associate
|
35487415 |
| Glaucoma |
Associate
|
16825280, 21850167, 28059119, 29452408, 29617998, 34440426, 37930140 |
| Glaucoma Open Angle |
Associate
|
17515884, 21850167, 29449654, 29452408, 34440426 |
| Glioma |
Associate
|
32960116, 34153159 |
| Glomerulosclerosis Focal Segmental |
Associate
|
28059119, 29138824, 32791958, 33814499, 39490407 |
| Hereditary renal agenesis |
Associate
|
29973660 |
| Iliac Aneurysm |
Associate
|
37930140 |
| Kidney Diseases |
Associate
|
28059119, 32949189, 33055489, 33814499, 34076843, 37930140, 39490407 |
| Kidney Failure Chronic |
Associate
|
19194568, 29973660 |
| Mood Disorders |
Associate
|
21850167 |
| Nail Patella Syndrome |
Associate
|
12624132, 16825280, 17515884, 19194568, 19721866, 20531206, 21850167, 23687361, 25380522, 25408626, 25898926, 28335748, 28383544, 29664512, 29973660, 30084575, 31053111, 31513274, 32949189, 34076843, 35769074, 37930140 View all (7 more) |
| Neoplasms |
Stimulate
|
31387183, 32960116 |
| Nephritis Hereditary |
Associate
|
33814499 |
| Nephrotic Syndrome |
Associate
|
16050398, 28335748 |
| Nervous System Diseases |
Associate
|
36835019 |
| Neuroinflammatory Diseases |
Associate
|
37450566 |
| Obesity |
Associate
|
31936053, 32357537, 33315090 |
| Ocular Hypertension |
Associate
|
21850167 |
| Osteoarthritis |
Associate
|
37749624 |
| Osteoarthritis Hip |
Associate
|
37749624 |
| Osteoarthritis Knee |
Associate
|
37749624 |
| Overweight |
Associate
|
32357537 |
| Patella Fracture |
Associate
|
34076843 |
| Patellar Dislocation |
Associate
|
26395556, 28059119 |
| Pediatric acute onset neuropsychiatric syndrome |
Associate
|
30084575 |
| Prostatic Neoplasms |
Associate
|
35832649 |
| Salcedo syndrome |
Associate
|
23687361, 28059119, 32791958 |
| Schizophrenia |
Associate
|
30084575 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
31387183 |
| Thyroid Cancer Papillary |
Associate
|
35342753 |
| Vesico Ureteral Reflux |
Associate
|
29973660 |
| Weight Loss |
Associate
|
33315090 |
|