| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Albinism |
Albinism |
Pubtator |
39596324 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
BEFREE |
22787034, 26180195 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
22938382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathy |
Pubtator |
39596324 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathies |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital cataract |
Congenital Cataract |
BEFREE |
20236115 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
39304915 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ear Diseases |
Ear Diseases |
BEFREE |
19414487, 22787034 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hallucinations |
Hallucinations |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
39304915 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemianopsia |
Hemianopsia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
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 |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| obsolete Rod-cone dystrophy |
Rod-cone dystrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oculocutaneous albinism type 2 |
Oculocutaneous albinism |
Pubtator |
10745043 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Retinal Dystrophies |
Retinal Dystrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
12080385 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
12834121, 16545802, 21310491, 24664766, 25798947, 30578505 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis pigmentosa |
Retinitis Pigmentosa |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
26338283, 29545425, 31960602, 31968401 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| RETINITIS PIGMENTOSA 61 |
Retinitis Pigmentosa |
UNIPROT_DG |
21310491 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 61 |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
9719374 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 61 |
Retinitis Pigmentosa |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 61 |
Retinitis Pigmentosa |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis punctata albescens (disorder) |
Retinitis punctata albescens |
BEFREE |
12834121 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RHYNS syndrome |
Rhyns syndrome |
Pubtator |
39596563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
26881841 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
11701652 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher Syndrome |
Usher Syndrome |
LHGDN |
11524702, 12080385 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Usher Syndrome |
Usher Syndrome |
BEFREE |
12834121, 15521980, 16028794, 16545802, 17093394, 17893653, 19414487, 19683999, 21675857, 22681893, 22787034, 22938382, 23304067, 26180195, 28031293, 28469144, 29142287, 29985171, 30578505, 31625146, 31638198, 7711740 View all (7 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Usher syndrome type 1B |
Usher syndrome |
Pubtator |
22681893 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher syndrome type 3 |
Usher Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| USHER SYNDROME, TYPE IC |
Usher Syndrome |
BEFREE |
29985171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher Syndrome, Type III |
Usher Syndrome |
BEFREE |
10704288, 12834121, 15521980, 15650299, 18281613, 19680541, 19753315, 20717163, 21310491, 21675857, 22964989, 23304067, 25743179, 26180195, 26881841, 27110679, 29044151, 29985171, 31625146, 8975700 View all (5 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Usher Syndrome, Type III |
Usher Syndrome |
CLINVAR_DG |
11524702, 12080385, 12145752, 14569126, 16028794, 16963483, 17407589, 17893653, 18273898, 18281613, 19423712, 19753315, 21675857, 22135276, 22787034, 22952768, 23304067, 24596593, 26180195 View all (4 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Usher Syndrome, Type III |
Usher Syndrome |
UNIPROT_DG |
11524702, 12080385, 12145752, 15521980, 18273898, 23304067 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Usher Syndrome, Type III |
Usher Syndrome |
CLINGEN_DG |
11524702, 19539019, 19753315, 21675857, 22135276, 22363448, 22787034, 24045267, 24596593, 26943149, 27110679 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Usher Syndrome, Type III |
Usher Syndrome |
ORPHANET_DG |
19753315 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Usher Syndrome, Type III |
Usher Syndrome |
GENOMICS_ENGLAND_DG |
9719374 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Usher Syndrome, Type III |
Usher Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Usher Syndromes |
Usher syndrome |
Pubtator |
19753315, 20717163, 22681893, 22964989, 23304067, 25404053, 25804404, 26338283, 28469144, 35481838, 39304915, 39337481, 9719374 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |