| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
8200991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BOR syndrome |
BOR Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Branchio-Oculo-Facial Syndrome |
Branchiooculofacial Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Branchio-Oto-Renal Syndrome |
Branchiootorenal Syndrome |
CLINGEN_DG |
10802667, 10802668, 11950062, 14704431, 17357085, 24429398 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Branchio-Oto-Renal Syndrome |
Branchiootorenal Syndrome |
BEFREE |
17357085, 22447252, 23840632 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Branchio-Oto-Renal Syndrome |
Branchiootorenal Syndrome |
LHGDN |
17357085 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Branchio-Oto-Renal Syndrome |
Branchiootorenal Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Branchioma |
Branchioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Branchiootorenal Syndrome 1 |
Melnick-Fraser syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Branchiootorenal Syndrome 2 |
Branchiootorenal Syndrome |
UNIPROT_DG |
17357085 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Branchiootorenal Syndrome 2 |
Branchiootorenal Syndrome |
GENOMICS_ENGLAND_DG |
17357085, 9949207 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Branchiootorenal Syndrome 2 |
Branchiootorenal Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Branchiootorenal Syndrome 2 |
Branchiootorenal Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Bronchiolitis Obliterans |
Bronchiolitis Obliterans |
BEFREE |
23840632, 29257230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cakut |
Congenital anomalies of the kidney and urinary tract |
Pubtator |
24429398 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
9949207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Myotonic Dystrophy |
Congenital Myotonic Dystrophy |
BEFREE |
10573472, 20360842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
GENOMICS_ENGLAND_DG |
9949207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
27864399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
27864399 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
35709191 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemifacial hypoplasia |
Hemifacial hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperandrogenism |
Hyperandrogenism |
BEFREE |
30224242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multicystic Dysplastic Kidney |
Multicystic renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
BEFREE |
10838245, 10951446, 11479593, 11592825, 11978764, 14526185, 9207102, 9241282, 9241283, 9949207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
26190529, 28211918 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYOTONIC DYSTROPHY 1 |
Myotonic dystrophy |
BEFREE |
11592825, 11978764, 9241282, 9241283 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
26449484 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
10823141 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Dysplasia |
Renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal dysplasia |
Renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stenosis of external auditory canal |
Stenosis Of External Auditory Canal |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |