|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Congenital Hypothyroidism |
congenital hypothyroidism |
rs530719719, rs567500345 |
N/A |
| Thyroid Dyshormonogenesis |
thyroid dyshormonogenesis 6 |
rs748793969, rs119472028, rs754179275, rs119472029, rs368975704, rs200592893, rs530719719, rs1566977567, rs199589510, rs1566978577, rs191759494, rs752635135, rs567500345, rs376983373, rs180671269, rs119472026, rs748194265, rs119472027 View all (3 more) |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenoma |
Associate
|
33628596 |
| Adenomatous Polyposis Coli |
Associate
|
33628596 |
| Alcoholism |
Associate
|
36577732 |
| Anemia Sickle Cell |
Associate
|
21114906 |
| Angelman Syndrome |
Associate
|
36028527 |
| Asthma |
Associate
|
24518246 |
| Atherosclerosis |
Associate
|
33851807 |
| Autism Spectrum Disorder |
Associate
|
31595719 |
| Carcinogenesis |
Associate
|
21915726 |
| Carcinoma Hepatocellular |
Associate
|
21915726, 27282266 |
| Carcinoma in Situ |
Associate
|
32425884 |
| Carcinoma Non Small Cell Lung |
Associate
|
30273693 |
| Carcinoma Pancreatic Ductal |
Associate
|
37330147 |
| Cardiomyopathy Dilated |
Associate
|
29320567 |
| Cognition Disorders |
Associate
|
32815446 |
| Colitis Collagenous |
Associate
|
33930606 |
| Colitis Ulcerative |
Stimulate
|
25003194 |
| Colitis Ulcerative |
Associate
|
25599773, 32190668, 37322958, 38070204, 38269750 |
| Colorectal Neoplasms |
Associate
|
27609023, 29715584, 31992345, 33483567 |
| Congenital Hereditary and Neonatal Diseases and Abnormalities |
Associate
|
28222800 |
| Congenital Hypothyroidism |
Associate
|
12110737, 19339556, 21367925, 23426615, 26709262, 26758695, 28541007, 28633507, 29650690, 29977049, 30022773, 30375286, 31044655, 32425884, 34200080, 34234053, 34276565, 36012511, 36028527, 36071330, 36207832, 36207837, 36913313, 40362701, 40516894 View all (10 more) |
| Constriction Pathologic |
Associate
|
38302662 |
| Coronary Artery Disease |
Associate
|
19022160 |
| Crohn Disease |
Associate
|
20155851, 25003194, 27373512 |
| Cystic Fibrosis |
Associate
|
21289024 |
| Diabetes Mellitus |
Associate
|
15086456, 22421922 |
| Diabetes Mellitus Type 2 |
Associate
|
23701472, 33851807 |
| Diabetes Mellitus Type 2 |
Inhibit
|
39948776 |
| Dupuytren Contracture |
Associate
|
29880057 |
| Dyskinesia Drug Induced |
Associate
|
40516894 |
| Essential Hypertension |
Associate
|
23701472 |
| Familial medullary thyroid carcinoma |
Associate
|
33488516 |
| Gastritis |
Associate
|
34471638 |
| Gastrointestinal Neoplasms |
Associate
|
21321110, 31548328 |
| Genetic Diseases Inborn |
Associate
|
28541007, 30022773 |
| Goiter |
Associate
|
18042646, 28222800, 30375286 |
| Granulomatous Disease Chronic |
Associate
|
11166463, 19541821, 21721378, 23264412, 25537876, 25666294, 28287132, 28356734, 35500221, 36705996, 36875143, 7919388, 7949143, 8611697, 8879195 |
| Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type I |
Associate
|
7919388 |
| Heart Failure |
Associate
|
18387435 |
| Helicobacter Infections |
Inhibit
|
27048452 |
| Hypertension |
Associate
|
22421922 |
| Hypothyroidism |
Associate
|
21704604, 31044655, 31541602, 32319661, 34341225, 36207837 |
| Hypothyroidism Congenital Nongoitrous 1 |
Associate
|
32319661 |
| Hypothyroidism Congenital Nongoitrous 2 |
Associate
|
27821020 |
| Hypoxia |
Associate
|
27624778 |
| Infections |
Associate
|
20395558, 27048452 |
| Inflammation |
Associate
|
21321110, 31548328, 32190668, 38070204 |
| Inflammatory Bowel Diseases |
Associate
|
29977049 |
| Intestinal Polyposis |
Associate
|
33628596 |
| Invasive Pulmonary Aspergillosis |
Associate
|
19541821 |
| Leukemia |
Associate
|
20566897 |
| Liver Diseases |
Associate
|
27282266 |
| Lung Diseases |
Associate
|
19339556 |
| Lung Neoplasms |
Associate
|
19339556 |
| Lymphoma B Cell |
Associate
|
22354003 |
| Metabolic Syndrome |
Associate
|
22421922 |
| Mucositis |
Associate
|
25003194 |
| Multiple Myeloma |
Associate
|
36223594 |
| Multiple Sclerosis |
Associate
|
22366799 |
| Neoplasm Metastasis |
Associate
|
34966441 |
| Neoplasms |
Associate
|
21915726 |
| Neoplastic Syndromes Hereditary |
Associate
|
15629370, 28287132, 33488516 |
| Obesity |
Associate
|
22421922 |
| Overweight |
Associate
|
22421922 |
| Pancreatic Neoplasms |
Associate
|
21321110, 31548328, 33748270, 37330147 |
| Pendred syndrome |
Associate
|
28222800 |
| Phenylketonurias |
Associate
|
36847978, 38105685 |
| Psychomotor Disorders |
Associate
|
30375286 |
| Pulmonary Arterial Hypertension |
Associate
|
23701472 |
| Rectal Neoplasms |
Associate
|
36361712 |
| Severe Acute Respiratory Syndrome |
Associate
|
24518246 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
29802697 |
| Stomach Neoplasms |
Associate
|
26207686, 27048452 |
| Thyroid cancer medullary |
Associate
|
33488516 |
| Thyroid Carcinoma Anaplastic |
Associate
|
27796151 |
| Thyroid Diseases |
Associate
|
28222800 |
| Thyroid Dysgenesis |
Associate
|
32425884 |
| Thyroid Dyshormonogenesis 1 |
Associate
|
27525530, 27821020, 30022773, 30240412, 31541602, 32319661, 33692749, 34341225, 36012511 |
| Thyroid Dyshormonogenesis 1 |
Stimulate
|
34539567 |
| Thyroid Dyshormonogenesis 2A |
Associate
|
12110737 |
| Thyroid Hormone Resistance Syndrome |
Associate
|
12110737, 34341225 |
| Thyroid Neoplasms |
Associate
|
34966441 |
| Thyroiditis |
Associate
|
36207832 |
| Uniparental Disomy |
Associate
|
36028527 |
| Uterine Cervical Neoplasms |
Stimulate
|
31706280 |
| Vascular Diseases |
Associate
|
18387435 |
| Ventricular Remodeling |
Associate
|
29320567 |
|