| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Addison Disease |
Addison`s Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenoleukodystrophy |
Adrenoleukodystrophy |
CTD_human_DG |
10441568 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenoleukodystrophy, Neonatal |
Adrenoleukodystrophy |
BEFREE |
16006427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenoleukodystrophy, Neonatal |
Adrenoleukodystrophy |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenoleukodystrophy, Neonatal |
Adrenoleukodystrophy |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenomyeloneuropathy |
Adrenomyeloneuropathy |
CTD_human_DG |
10441568 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
35854306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
10235561 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gilles de la Tourette syndrome |
Tourette Syndrome |
BEFREE |
16006427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
BEFREE |
10235561 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophy of clitoris |
Hypertrophy Of Clitoris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Refsum disease |
Refsum Disease |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Refsum Disease (disorder) |
Infantile Refsum Disease |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
30122582 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lissencephaly |
Lissencephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long narrow head |
Dolichocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development, Group II |
Malformation of cortical development |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
35854306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multicystic Dysplastic Kidney |
Multicystic renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple renal cysts |
Multiple renal cysts |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal adrenoleukodystrophy |
Adrenoleukodystrophy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
19449432, 23716570, 24357685, 25655951, 27604308 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) |
Zellweger Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) |
Zellweger Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 11B |
Zellweger Syndrome |
UNIPROT_DG |
10332040, 10441568 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 11B |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
19449432, 23716570, 24357685, 25655951 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 11B |
Zellweger Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 11B |
Zellweger Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 2B |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peroxisome biogenesis disorders |
Zellweger Syndrome |
BEFREE |
10332040, 10441568, 27827795, 9878256 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisome biogenesis disorders |
Zellweger Syndrome |
CTD_human_DG |
10332040, 10441568, 19449432 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisome biogenesis disorders |
Peroxisome biogenesis disorder |
Pubtator |
10441568 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisome biogenesis disorders |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posterior embryotoxon |
Posterior embryotoxon |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Simple renal cyst |
Renal cyst |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Timothy syndrome |
Timothy Syndrome |
BEFREE |
16006427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tricuspid Valve Stenosis |
Tricuspid Valve Stenosis |
BEFREE |
16006427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tuberous Sclerosis |
Tuberous Sclerosis |
BEFREE |
16006427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Spectrum |
Zellweger Syndrome |
CTD_human_DG |
10332040, 19449432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Spectrum |
Zellweger Syndrome |
BEFREE |
17041890, 23716570, 27827795 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Syndrome |
Zellweger Syndrome |
CTD_human_DG |
10332040, 19449432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger syndrome |
Zellweger Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Syndrome |
Zellweger Syndrome |
BEFREE |
29187321 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger-Like Syndrome |
Zellweger-Like Syndrome |
CTD_human_DG |
10332040, 19449432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |