| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Apraxia of Phonation |
Apraxia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bardet-Biedl Syndrome |
Bardet-Biedl Syndrome |
CLINVAR_DG |
12118255, 12524598, 12677556, 12837689, 15314642, 15770229, 16327777, 17980398, 18032602, 18669544, 18766993, 20177705, 20498079, 20876674, 21517826, 21642631, 22410627, 22581970, 22940089, 23143442, 26518167, 27032803, 28224992, 30614526, 30718709 View all (10 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bardet-Biedl syndrome 1 (disorder) |
Bardet-Biedl Syndrome |
CLINVAR_DG |
12118255, 12524598, 12677556, 12920096, 15770229, 18032602, 20177705, 20498079, 20876674, 21052717, 21344540, 21517826, 21642631, 22581970, 22773737, 22940089, 23143442, 23565731, 23943788, 25170860, 26518167, 28143435 View all (7 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biliary Atresia |
Biliary Atresia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital heart disease |
Congenital Heart Disease |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| obsolete Rod-cone dystrophy |
Rod-cone dystrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Diseases |
Polycystic kidney disease |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
CLINVAR_DG |
12118255, 26872967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
12118255, 30718709 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe myopia |
Myopia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher Syndrome |
Usher Syndrome |
CLINVAR_DG |
30718709 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vitamin B 12 Deficiency |
Cobalamin deficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |