| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acrocephalopolydactylous Dysplasia |
Acrocephalopolydactyly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Albinism |
Albinism |
Pubtator |
35488210 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
30733278 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
36424660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
33864791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic |
Hypertrophic cardiomyopathy |
Pubtator |
33864791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Nervous System Diseases |
Central nervous system disease |
Pubtator |
12058346 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar cortical atrophy |
Cerebellar cortical atrophy |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical hemiatrophy |
Cerebral cortical hemiatrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
28894003, 31506355 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
29024942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
29024942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
31178730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Elejalde Disease |
Elejalde Disease |
GENOMICS_ENGLAND_DG |
12148598 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Elejalde Disease |
Elejalde Disease |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
37667251 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
30628650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Griscelli syndrome type 1 |
Griscelli syndrome |
Pubtator |
11266474, 18397837 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Griscelli syndrome type 1 |
Griscelli Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Griscelli syndrome type 2 |
Griscelli syndrome |
Pubtator |
23558932 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Griscelli syndrome type 3 |
Griscelli Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Griscelli syndrome type 3 |
Griscelli syndrome |
Pubtator |
18397837 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 1 |
Griscelli syndrome |
GENOMICS_ENGLAND_DG |
9207796 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 1 |
Griscelli syndrome |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 1 |
Griscelli syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 1 |
Griscelli syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 3 |
Griscelli syndrome |
GENOMICS_ENGLAND_DG |
12148598 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 3 |
Griscelli syndrome |
ORPHANET_DG |
12897212 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyperlipidemia |
Hyperlipidemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation disorder |
Hypopigmentation Disorder |
BEFREE |
12897212 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation disorder |
Hypopigmentation Disorder |
LHGDN |
12897212 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation disorder |
Hypopigmentation Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation-immunodeficiency disease |
Hypopigmentation-Immunodeficiency Disease |
BEFREE |
10704277, 10733681, 12058346, 12897212, 15163896, 19030707, 19243575, 20591709 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation-immunodeficiency disease |
Hypopigmentation-Immunodeficiency Disease |
GENOMICS_ENGLAND_DG |
9207796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
37666879 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Insulin Resistance |
Diabetes mellitus, type 2 |
Pubtator |
26672043 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Laryngeal Squamous Cell Carcinoma |
Laryngeal Carcinoma |
BEFREE |
29950866 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
30733278 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
28903372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of testis |
Malignant Neoplasm Of Testis |
BEFREE |
28903372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
1281011, 19521958 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Testicular Germ Cell Tumor |
Malignant testicular germ cell tumor |
BEFREE |
28903372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
10529054, 1281011, 23814494 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Movement Disorders |
Movement Disorders |
BEFREE |
29217155 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
20228124, 28903372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
19030707 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
30733278 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroectodermal melanolysosomal disease |
Neuroectodermal Melanolysosomal Disease |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
20864405 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
CTD_human_DG |
20864405 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
20864405 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Pheochromocytoma |
Pheochromocytoma |
Pubtator |
32511227 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Piebaldism |
Piebaldism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
28903372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
1281011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
21300763 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
35478939, 38129784 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
32735728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stroke |
Stroke |
Pubtator |
33864791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subcortical cerebral atrophy |
Subcortical cerebral atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichothiodystrophy Syndromes |
Trichothiodystrophy |
Pubtator |
10733681 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |