| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Atrophy |
Atrophy |
Pubtator |
33057649 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36714595 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Gestational |
Gestational diabetes |
Pubtator |
30185669 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic retinopathy |
Pubtator |
37318461 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
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 |
| Leber Congenital Amaurosis |
Leber congenital amaurosis |
Pubtator |
36140798 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
26321862, 26496393 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
BEFREE |
30998820 |
|
★★★★★★☆☆☆☆ 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 |
Pubtator |
36714595, 38190589 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
10393062, 10782214, 26188004, 26321862, 28676737, 29212382, 29212391, 29693493, 30153077, 30289068, 30685614 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
10393062, 17110911, 21151602, 23134348, 25775262, 30718709 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
17110911, 18723146, 22128245, 26321862, 30685614, 33057649, 34057927, 35033039, 35533076, 36140798, 37322672, 37578425, 39218074, 7479749 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis pigmentosa |
Retinitis Pigmentosa |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CTD_human_DG |
21039428, 7493036 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 43 |
Retinitis Pigmentosa |
UNIPROT_DG |
10393062, 7493036 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 43 |
Retinitis Pigmentosa |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 43 |
Retinitis Pigmentosa |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RETINITIS PIGMENTOSA 43 |
Retinitis Pigmentosa |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
BEFREE |
30998820 |
|
★★★★★★☆☆☆☆ 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 |
| Specific Granule Deficiency |
Specific granule deficiency |
Pubtator |
35033039 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
33057649 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |