| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ALZHEIMER DISEASE |
— |
GWAS catalog
|
34493870, 39998322 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ANKYLOSING SPONDYLITIS |
— |
GWAS catalog
|
26301688, 26974007 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATTENTION DEFICIT HYPERACTIVITY DISORDER |
— |
GWAS catalog
|
33686288, 36753304 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOIMMUNE DISEASE |
— |
GWAS catalog
|
26301688 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTOIMMUNE THYROID DISEASE |
— |
GWAS catalog
|
26301688 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BEHCET'S SYNDROME |
— |
GWAS catalog
|
24326010 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bombay phenotype |
Conflicting classifications of pathogenicity; Benign |
ClinVar
ClinVar, HPO
ClinVar, HPO
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| BREAST CARCINOMA |
— |
GWAS catalog
|
33037222 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOVASCULAR DISEASE |
— |
GWAS catalog
|
30595370 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CELIAC DISEASE |
— |
GWAS catalog
|
26301688 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHOLELITHIASIS |
— |
GWAS catalog
|
30504769, 34594039, 34651315, 37965154, 39789286, 40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMMON VARIABLE IMMUNODEFICIENCY |
— |
GWAS catalog
|
26301688 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN DISEASE |
— |
CTD
|
21102463 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHN'S DISEASE |
— |
GWAS catalog
|
20570966, 21102463, 23128233, 26192919, 26301688, 26974007, 28067908, 37156999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CROHNS DISEASE OF LARGE BOWEL |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEFICIENCY ANEMIA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DENTAL CARIES |
— |
GWAS catalog
|
39192244 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DUODENAL ULCER |
— |
GWAS catalog
|
37965154, 38036781 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial Otitis Media |
Conflicting classifications of pathogenicity; Benign; confers sensitivity; other |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Fucosyltransferase 6 deficiency |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FUT2-related disorder |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GALLSTONES |
— |
GWAS catalog
|
30504769, 34651315 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GASTRIC ULCER |
— |
GWAS catalog
|
34594039, 37965154 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSION |
— |
GWAS catalog
|
38965376 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INFLAMMATORY BOWEL DISEASE |
— |
GWAS catalog
|
20570966, 21102463, 23128233, 26192919, 28067908, 37156999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| JUVENILE IDIOPATHIC ARTHRITIS |
— |
GWAS catalog
|
26301688 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LATE-ONSET ALZHEIMER'S DISEASE |
— |
GWAS catalog
|
34493870 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Levothyroxine response |
confers sensitivity; other |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LUNG ADENOCARCINOMA |
— |
GWAS catalog
|
28604730 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MEGALOBLASTIC ANEMIA |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| METABOLIC SYNDROME |
— |
GWAS catalog
|
33893285 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MULTIPLE SCLEROSIS |
— |
GWAS catalog
|
21833088 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NASAL DISORDER |
— |
GWAS catalog
|
36653354 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-ALCOHOLIC FATTY LIVER DISEASE |
— |
GWAS catalog
|
35047847 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBESITY |
— |
GWAS catalog
|
23251661 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS |
— |
GWAS catalog
|
40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, HIP |
— |
GWAS catalog
|
40205036 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PEPTIC ULCER DISEASE |
— |
GWAS catalog
|
33608531, 36753304, 38036781, 38102678, 39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSORIASIS |
— |
GWAS catalog
|
25574825, 26301688, 26974007, 28537254 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
GWAS catalog
|
33169155, 33686288, 36753304 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCLEROSING CHOLANGITIS |
— |
GWAS catalog
|
26974007, 27992413 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SECRETOR/NONSECRETOR POLYMORPHISM |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SINUSITIS |
— |
GWAS catalog
|
34594039 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SYSTEMIC LUPUS ERYTHEMATOSUS |
— |
GWAS catalog
|
26301688, 36762574 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 1 DIABETES MELLITUS |
— |
GWAS catalog
|
25751624, 26301688 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
|
25751624 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ULCERATIVE COLITIS |
— |
GWAS catalog
|
26192919, 26301688, 26974007, 28067908, 37156999 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VITAMIN B 12 DEFICIENCY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VITAMIN B DEFICIENCY |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vitamin B12 deficiency |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 |
Conflicting classifications of pathogenicity; Benign |
ClinVar
CTD, ClinVar
CTD, ClinVar
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| VITAMIN DEFICIENCY DISORDER |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |