| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Cataract |
Cataract |
BEFREE |
25439727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
25439727, 33239752 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Palsy |
Cerebral palsy |
Pubtator |
33239752 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chondrodysplasia Punctata Rhizomelic |
Chondrodysplasia |
Pubtator |
25439727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chondrodysplasia Punctata, Rhizomelic |
Chondrodysplasia Punctata |
BEFREE |
27616591 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatitis, Atopic |
Dermatitis |
BEFREE |
30572792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
33239752 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
BEFREE |
30572792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
25439727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty acyl-CoA reductase 1 deficiency |
Fatty Acyl-CoA Reductase Deficiency |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
25439727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
25439727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
33239752 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraparesis Spastic |
Paraparesis |
Pubtator |
33239752 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER |
Peroxisomal fatty ACYL-CoA reductase 1 disorder |
ORPHANET_DG |
25439727 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER |
Peroxisomal fatty ACYL-CoA reductase 1 disorder |
GENOMICS_ENGLAND_DG |
25439727 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER |
Peroxisomal fatty ACYL-CoA reductase 1 disorder |
UNIPROT_DG |
25439727 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER |
Peroxisomal fatty ACYL-CoA reductase 1 disorder |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe intellectual disability |
Mental retardation |
BEFREE |
25439727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
33239752 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
BEFREE |
31616253 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |