|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Capillary Malformation-Arteriovenous Malformation |
capillary malformation-arteriovenous malformation 1 |
rs1348578241, rs1204340475, rs1580386963, rs1561331089, rs878854569, rs1758886343, rs1060503441, rs1060503439, rs1554049394, rs1554050230, rs1554050584, rs797044451, rs1384480619, rs137853217, rs1554045819, rs137853218, rs983011713 View all (2 more) |
N/A |
| Carcinoma, Somatic |
basal cell carcinoma, somatic |
rs137853214, rs137853215, rs137853216 |
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 |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Noonan Syndrome |
Noonan syndrome |
N/A |
N/A |
GenCC |
| Prostate cancer |
Prostate cancer aggressiveness |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Arteriovenous Fistula |
Associate
|
29891884 |
| Arteriovenous Malformations |
Associate
|
29891884 |
| Atrioventricular Block |
Associate
|
24139535 |
| Breast Neoplasms |
Associate
|
24347041, 32635943 |
| Calcinosis Cutis |
Associate
|
24347041 |
| Capillary Malformation Arteriovenous Malformation |
Associate
|
14639529, 18446851, 20007727, 23933248, 29024832, 29110021, 29891884, 30026675, 32635776, 32635943, 36980822, 40526942 |
| Carcinoma Hepatocellular |
Inhibit
|
24443565 |
| Carcinoma Hepatocellular |
Associate
|
26126858 |
| Carcinoma Non Small Cell Lung |
Associate
|
29127119, 29343556, 37390335 |
| Carcinoma Squamous Cell |
Associate
|
25303977, 27158780, 32434476 |
| Colorectal Neoplasms |
Associate
|
24465899 |
| Diabetic Nephropathies |
Associate
|
36585417 |
| Dystonic Disorders |
Associate
|
36002837 |
| Familial cerebral cavernous malformation |
Associate
|
34491620 |
| Fistula |
Associate
|
24139535 |
| Gastro enteropancreatic neuroendocrine tumor |
Associate
|
26684240 |
| Genetic Diseases Inborn |
Associate
|
40526942 |
| Headache |
Associate
|
24139535 |
| Heart Defects Congenital |
Associate
|
36002837 |
| Heart Failure |
Associate
|
36002837 |
| Hemangioma Cavernous |
Associate
|
24139535 |
| Hydrops Fetalis |
Associate
|
35397126 |
| Hypoxia |
Associate
|
26126858 |
| Inflammation |
Associate
|
32434476 |
| Intracranial Arteriovenous Malformations |
Associate
|
14639529, 18446851, 20007727, 28687708 |
| Intracranial Hemorrhages |
Associate
|
34491620 |
| Leukemia |
Associate
|
15284113, 8245773 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
8195713, 8245773 |
| Lung Diseases |
Associate
|
27158780 |
| Lung Neoplasms |
Associate
|
29343556 |
| Lymphatic Metastasis |
Associate
|
27101583 |
| Lymphedema and Cerebral Arteriovenous Anomaly |
Associate
|
20007727 |
| Melanoma |
Associate
|
26502337 |
| Mitochondrial Diseases |
Stimulate
|
17510315 |
| Mouth Diseases |
Associate
|
29024832 |
| Multifocal Choroiditis |
Associate
|
20007727 |
| Myelodysplastic Syndromes |
Inhibit
|
26521017 |
| Nausea |
Associate
|
24139535 |
| Neoplasms |
Associate
|
17510315, 19151751, 24347041, 25008324, 25303977, 26392535, 27137215, 29127119, 30927944, 37995182, 38275291 |
| Neoplasms |
Inhibit
|
19372580, 24443565, 25486365, 26008146, 26502337 |
| Neoplastic Syndromes Hereditary |
Associate
|
29891884 |
| Neurofibromatosis 1 |
Associate
|
23082153 |
| No Reflow Phenomenon |
Associate
|
18446851 |
| Pancreatic Neoplasms |
Associate
|
26747707, 27137215 |
| Pentalogy of Cantrell |
Associate
|
36980822 |
| Philadelphia Chromosome |
Associate
|
8195713 |
| Prostate Cancer Hereditary 7 |
Associate
|
25939597 |
| Prostatic Neoplasms |
Associate
|
25189356, 25939597 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
28435450 |
| Sturge Weber Syndrome |
Associate
|
14639529, 18446851, 22402795, 29891884, 32843429 |
| Telangiectasia Hereditary Hemorrhagic |
Associate
|
28687708 |
| Thyroid Neoplasms |
Associate
|
26008146, 38275291 |
| Triple Negative Breast Neoplasms |
Associate
|
25202123, 34168046 |
| Trophoblastic Neoplasms |
Inhibit
|
7747802 |
| Uterine Cervical Neoplasms |
Associate
|
27101583 |
| Vascular Diseases |
Associate
|
18446851, 25939597, 32843429 |
| Vascular Malformations |
Associate
|
24139535 |
| Vein of Galen aneurysm |
Associate
|
18446851 |
| Vomiting |
Associate
|
24139535 |
|