| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis, renal dysfunction, and cholestasis 1 |
Arthrogryposis, Renal Dysfunction, And Cholestasis |
BEFREE |
23918659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Platelet Disorders |
Platelet disorder |
Pubtator |
31070736 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Dysplasia Of The Hip |
Developmental dysplasia of the hip |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Edema |
Edema |
Pubtator |
36232726 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal glomerulosclerosis |
Glomerulosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hermanski-Pudlak Syndrome |
Hermansky-Pudlak Syndrome |
LHGDN |
12538872 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
31070736 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
22203954 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis I |
Mucopolysaccharidosis |
Pubtator |
31070736, 31936524, 35628659, 36153662, 36232726, 37628632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
UNIPROT_DG |
27547915, 28013294 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
ORPHANET_DG |
28013294 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Obesity Abdominal |
Obesity |
Pubtator |
36232726 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pfaundler-Hurler Syndrome |
Pfaundler-Hurler Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |