| 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 |
12851857 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenoleukodystrophy, Neonatal |
Adrenoleukodystrophy |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenoleukodystrophy, Neonatal |
Adrenoleukodystrophy |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenomyeloneuropathy |
Adrenomyeloneuropathy |
CTD_human_DG |
12851857 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amelogenesis Imperfecta |
Amelogenesis imperfecta |
GENOMICS_ENGLAND_DG |
28944237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
GWASCAT_DG |
29892015, 30061737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
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 |
| Deafness enamel hypoplasia nail defects |
Deafness Enamel Hypoplasia Nail Defects |
GENOMICS_ENGLAND_DG |
28944237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness enamel hypoplasia nail defects |
Deafness enamel hypoplasia nail defects |
Pubtator |
31831025 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dental Enamel Hypoplasia |
Dental Enamel Hypoplasia |
GENOMICS_ENGLAND_DG |
28944237 |
|
★★★★★★☆☆☆☆ 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 |
| Foramen Ovale, Patent |
Patent foramen ovale |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ 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 |
| Hearing Loss |
Hearing loss |
Pubtator |
30446579 |
Associate |
★★★★★★☆☆☆☆ 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 |
CTD_human_DG |
12851857 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Refsum Disease (disorder) |
Infantile Refsum Disease |
BEFREE |
16257970 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Refsum Disease (disorder) |
Infantile Refsum Disease |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Refsum Disease (disorder) |
Infantile Refsum Disease |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lissencephaly |
Lissencephaly |
CLINVAR_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 |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
34074205 |
Associate |
★★★★★★☆☆☆☆ 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 |
| Melanoma |
Melanoma |
Pubtator |
34074205 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multicystic Dysplastic Kidney |
Multicystic renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal adrenoleukodystrophy |
Adrenoleukodystrophy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PEROXISOME BIOGENESIS DISORDER 2B |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PEROXISOME BIOGENESIS DISORDER 3B |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) |
Zellweger Syndrome |
UNIPROT_DG |
12717447, 12851857, 19105186 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) |
Zellweger Syndrome |
CLINVAR_DG |
12851857, 15858711, 16257970, 28944237 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
15858711, 17336976, 24357685, 28944237 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) |
Zellweger Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 7B |
Zellweger Syndrome |
UNIPROT_DG |
12717447, 12851857 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 7B |
Zellweger Syndrome |
CLINVAR_DG |
12717447, 12851857, 16257970, 26287655, 26627908, 28944237 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 7B |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
15542397, 24357685, 27604308, 28944237 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER 7B |
Zellweger Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A |
Zellweger Syndrome |
CLINVAR_DG |
12717447, 12851857, 16257970, 26287655, 26627908, 28944237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peroxisome biogenesis disorders |
Zellweger Syndrome |
BEFREE |
12717447, 12851857, 15858711, 16257970 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisome biogenesis disorders |
Zellweger Syndrome |
CLINVAR_DG |
12851857, 16257970, 19877282, 21031596 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisome biogenesis disorders |
Zellweger Syndrome |
CTD_human_DG |
12851857 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisome biogenesis disorders |
Peroxisome biogenesis disorder |
Pubtator |
15858711, 16257970, 19105186 |
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 |
| Polymicrogyria With Optic Nerve Hypoplasia |
Polymicrogyria With Optic Nerve Hypoplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posterior embryotoxon |
Posterior embryotoxon |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
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 |
| Retinal Dystrophies |
Retinal Dystrophy |
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 |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
12851857, 26319495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Spectrum |
Zellweger Syndrome |
BEFREE |
19105186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Syndrome |
Zellweger Syndrome |
CTD_human_DG |
12851857, 26319495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Syndrome |
Zellweger Syndrome |
BEFREE |
17336976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger syndrome |
Zellweger Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Syndrome |
Zellweger Syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger-Like Syndrome |
Zellweger-Like Syndrome |
CTD_human_DG |
12851857, 26319495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |