| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Ataxia |
Ataxia |
Pubtator |
34130600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
34130600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
24239381, 25476608 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central visual impairment |
Central Visual Impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coloboma of the Retina |
Retinal coloboma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal Dementia |
Frontotemporal dementia |
Pubtator |
34130600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fundus coloboma |
Fundus Coloboma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gaucher Disease |
Gaucher disease |
Pubtator |
34130600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
26063829 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease |
Glycogen storage disease |
Pubtator |
34130600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
34130600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
25332050 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
26063829 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micro syndrome |
Micro Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
25332050 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmos |
Microphthalmos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
34130600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Quadriplegia |
Spastic Quadriplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| WARBURG MICRO SYNDROME 4 |
Warburg Micro Syndrome |
GENOMICS_ENGLAND_DG |
24239381, 26063829 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| WARBURG MICRO SYNDROME 4 |
Warburg Micro Syndrome |
BEFREE |
25476608 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| WARBURG MICRO SYNDROME 4 |
Warburg Micro Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Warburg Sjo Fledelius syndrome |
Warburg Micro Syndrome |
BEFREE |
24239381, 26063829 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Warburg Sjo Fledelius syndrome |
Warburg Micro Syndrome |
ORPHANET_DG |
24239381 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Warburg Sjo Fledelius syndrome |
Warburg micro syndrome |
Pubtator |
25332050 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Warburg Sjo Fledelius syndrome |
Warburg Micro Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |