| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Amaurosis congenita of Leber, type 1 |
Leber congenital amaurosis |
BEFREE |
16643894 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28919751, 29976237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathy |
Pubtator |
36498982 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
36181111 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone Dystrophy |
Cone dystrophy |
Pubtator |
24375934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
16643894 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
31811175 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
17955208 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
10639573 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
10639573 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
18183286 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Insulin Resistance |
Diabetes mellitus, type 2 |
Pubtator |
18183286 |
Associate |
★★★★★★☆☆☆☆ 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 |
BEFREE |
16643894 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leber Congenital Amaurosis |
Leber congenital amaurosis |
Pubtator |
16643894 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
28919751, 29976237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
28919751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
23146750 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
11000483, 16443771, 17955208, 18183286, 23146750, 24375934, 28852204, 9462750, 9462751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
16443771, 16643894, 18183286, 24375934, 33983957 |
Associate |
★★★★★★☆☆☆☆ 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 |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Neuropathy |
Optic Neuropathy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Degeneration |
Retinal degeneration |
Pubtator |
16643894 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal detachment |
Pubtator |
36498982 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINAL DYSTROPHY AND OBESITY |
RETINAL DYSTROPHY AND OBESITY |
BEFREE |
24375934 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| RETINAL DYSTROPHY AND OBESITY |
RETINAL DYSTROPHY AND OBESITY |
GENOMICS_ENGLAND_DG |
8612280 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| RETINAL DYSTROPHY AND OBESITY |
RETINAL DYSTROPHY AND OBESITY |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| RETINAL DYSTROPHY AND OBESITY |
RETINAL DYSTROPHY AND OBESITY |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
16643894 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Retinitis Pigmentosa |
Retinitis pigmentosa |
Pubtator |
16643894, 36650547 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
ORPHANET_DG |
24375934 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Retinitis pigmentosa |
Retinitis Pigmentosa |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
31198983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |