| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Age related macular degeneration |
Age-related macular degeneration |
CTD_human_DG |
22842229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
32984236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amaurosis congenita of Leber, type 1 |
Leber congenital amaurosis |
BEFREE |
16082399, 22842227, 22842230, 22842231, 24940029, 26316326, 26464178, 28453600, 29184169, 30166529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophoderma maculatum |
Anetoderma |
BEFREE |
24830548 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy |
Atrophy |
Pubtator |
24940029, 29184169, 34837036 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
33668384 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Cerebral Infarction |
BEFREE |
31421130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroideremia |
Choroideremia |
Pubtator |
23940504 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Color Vision Defects |
Color vision deficiency |
Pubtator |
23940504 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone Dystrophy |
Cone Dystrophy |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Cone rod dystrophy |
Cone-rod dystrophy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cone-Rod Dystrophies |
Cone-rod dystrophy |
BEFREE |
28369829, 29184169 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cone-Rod Dystrophy 2 |
Cone-rod dystrophy |
BEFREE |
24940029, 28369829, 29184169 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone-Rod Dystrophy 2 |
Cone-rod dystrophy |
ORPHANET_DG |
28369829 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Amaurosis of Retinal Origin |
Dysgenesis Neuroepithelialis Retinae |
CTD_human_DG |
22842227, 22842229, 22842230, 22842231 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital cerebral hernia |
Congenital Cerebral Hernia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
29184169 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
Pubtator |
36809279 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
33668384 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemiplegia/hemiparesis |
Hemiplegia/hemiparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary macular coloboma |
Coloboma of macula |
CTD_human_DG |
22842230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary macular coloboma |
Coloboma of macula |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Idiopathic pulmonary fibrosis |
Pubtator |
20451601 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic stroke |
Ischemic Stroke |
BEFREE |
31421130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
BEFREE |
12734549, 22842227, 22842229, 22842230, 22842231, 24791140, 24830548, 24940029, 25988908, 26018082, 26464178, 27207593, 28369829, 29184169, 29674119, 30166529 View all (1 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
ORPHANET_DG |
22842227, 25685757 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
CTD_human_DG |
22842227, 22842229, 22842230, 22842231 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
CLINVAR_DG |
22842227, 22842229, 22842230, 22842231, 24830548, 26018082 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Leber Congenital Amaurosis |
Leber congenital amaurosis |
Pubtator |
22842227, 22842230, 23940504, 24791140, 24940029, 26316326, 28966547, 29178642, 29184169, 29844330, 32165824, 33668384, 36140798, 36369640, 39728598 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Leber congenital amaurosis |
Leber Congenital Amaurosis |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| LEBER CONGENITAL AMAUROSIS 9 (disorder) |
Leber Congenital Amaurosis |
GENOMICS_ENGLAND_DG |
12734549, 28369829 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEBER CONGENITAL AMAUROSIS 9 (disorder) |
Leber Congenital Amaurosis |
UNIPROT_DG |
22842227, 22842229, 22842230, 22842231 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEBER CONGENITAL AMAUROSIS 9 (disorder) |
Leber Congenital Amaurosis |
CLINVAR_DG |
22842227, 22842229, 22842230, 22842231, 23040504, 24625443, 24830548, 24940029, 26018082, 26103963, 27032803 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEBER CONGENITAL AMAUROSIS 9 (disorder) |
Leber Congenital Amaurosis |
BEFREE |
26018082, 27207593, 28369829, 29674119 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEBER CONGENITAL AMAUROSIS 9 (disorder) |
Leber Congenital Amaurosis |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development, Group II |
Malformation of cortical development |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Necrosis |
Necrosis |
Pubtator |
34445574 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29029387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
22842230 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
22842230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nystagmus |
Nystagmus |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy |
Optic Atrophy |
BEFREE |
22842229 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy |
Optic Atrophy |
CTD_human_DG |
22842229 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
34445574 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Degeneration |
Retinal degeneration |
Pubtator |
22842230, 34750622, 34837036 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Retinal Diseases |
Retinal detachment |
Pubtator |
31877759, 39795970 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
BEFREE |
24940029, 28369829, 29184169 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
23940504, 24940029, 34837036, 36140798 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
BEFREE |
28369829, 29184169 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
35421138 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tauopathies |
Tauopathies |
BEFREE |
29175372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transient Cerebral Ischemia |
Cerebral Ischemia |
BEFREE |
31421130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transient Ischemic Attack |
Transient Ischemic Attack |
BEFREE |
31421130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher Syndromes |
Usher syndrome |
Pubtator |
23940504 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wallerian Degeneration |
Wallerian degeneration |
Pubtator |
22842230 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |