| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adrenoleukodystrophy |
Adrenoleukodystrophy |
BEFREE |
28987423 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aneuploidy |
Aneuploidy |
Pubtator |
37761927 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANONYCHIA |
Anonychia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
28960866 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
25152456 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant non-syndromic sensorineural deafness type DFNA |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21949371, 23284647, 23441166, 23814079, 28266048, 31084623, 31110002, 31200751, 31644911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
22379025, 31084623, 31110002, 36691073, 38429368 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
25550776 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
21949371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
26887977, 28278050 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
28278050 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
25550776 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
25550776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
24756066, 30917932, 31063022 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
25139457, 28543713 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Corneal dystrophy |
Corneal Dystrophy |
CLINVAR_DG |
29499165 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Corneal Dystrophy Posterior Polymorphous 1 |
Posterior polymorphous corneal dystrophy |
Pubtator |
29499165 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 |
Corneal Dystrophy Posterior Polymorphous |
GENOMICS_ENGLAND_DG |
29499165 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 |
Corneal Dystrophy Posterior Polymorphous |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT |
CORNEAL ENDOTHELIAL DYSTROPHY |
BEFREE |
29499165, 31201376, 31233731 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
30682115, 32048449 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness Autosomal Dominant 28 |
Deafness |
Pubtator |
29110737 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness, Autosomal Dominant 28 |
Deafness |
BEFREE |
21610158 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 28 |
Deafness |
GENOMICS_ENGLAND_DG |
25152456 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 28 |
Deafness |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 28 |
Deafness |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dental Enamel Hypoplasia |
Dental Enamel Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatitis Atopic |
Atopic dermatitis |
Pubtator |
23254293 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dubowitz syndrome |
Dubowitz syndrome |
Pubtator |
27612988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskeratosis Congenita |
Dyskeratosis Congenita |
BEFREE |
27612988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskeratosis Congenita |
Dyskeratosis congenita |
Pubtator |
27612988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystrophia unguium |
Nail dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectodermal Dysplasia |
Ectodermal dysplasia |
Pubtator |
27612988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
28278050 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
28435293 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
28435293 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exencephaly |
Anencephaly |
BEFREE |
30189017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
37761927 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
27612988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
23813623, 25781927, 29455378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis B Chronic |
Hepatitis b |
Pubtator |
33736632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatolenticular Degeneration |
Hepatolenticular degeneration |
Pubtator |
38303513 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperkeratosis |
Hyperkeratosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
24375798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lip and Oral Cavity Carcinoma |
Lip and Oral Cavity Carcinoma |
BEFREE |
26933170, 29735981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
18752864 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
LHGDN |
18752864 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
27008704 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic Metastasis |
BEFREE |
30675204 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21949371, 23284647, 23441166, 23814079, 28266048, 31084623, 31110002, 31200751, 31644911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
28435293 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of kidney |
Kidney Cancer |
BEFREE |
25139457 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
21949371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of mouth |
Malignant neoplasm of mouth |
BEFREE |
26933170, 29735981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of oropharynx |
Malignant Neoplasm Of Oropharynx |
BEFREE |
29443638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
28960866 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
28473532 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
24068586, 28067907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
23441166, 26933170, 28278050, 28459369, 28714958, 30675204, 30958537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
25550776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mouth Neoplasms |
Mouth Neoplasms |
BEFREE |
29443638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
Nail And Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Ectodermal dysplasia/short stature syndrome |
ORPHANET_DG |
25152456 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Ectodermal dysplasia/short stature syndrome |
UNIPROT_DG |
25152456 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Ectodermal dysplasia/short stature syndrome |
GENOMICS_ENGLAND_DG |
25152456 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Ectodermal dysplasia/short stature syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Ectodermal dysplasia/short stature syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
23814079, 24068586, 24756066, 28067907, 28278050, 28435293, 28459369, 28714958, 30958537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural Tube Defect |
BEFREE |
21262862, 30189017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
Pubtator |
27612988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
28979695 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
CLINGEN_DG |
12393799, 21610158, 23813623, 26915689 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oropharyngeal Carcinoma |
Oropharyngeal Carcinoma |
BEFREE |
29443638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
28278050 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
26887977, 28278050, 31372511 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
28960866, 30675204 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Poikiloderma with Neutropenia |
Poikiloderma With Neutropenia |
BEFREE |
27612988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymorphous corneal dystrophy |
Polymorphous corneal dystrophy |
BEFREE |
29499165, 31201376, 31233731 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polymorphous corneal dystrophy |
Polymorphous corneal dystrophy |
ORPHANET_DG |
29499165 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Posterior polymorphous corneal dystrophy |
Polymorphous corneal dystrophy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
28473532 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
BEFREE |
28473532 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
Pubtator |
23254293 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
28040329 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Fibrosis |
Pulmonary Fibrosis |
BEFREE |
24375798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal carcinoma |
Renal Carcinoma |
BEFREE |
25139457 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
27402864 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Sarcoma |
Pubtator |
27402864, 28448023 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
23813623 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
23254293 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida |
Spina Bifida |
BEFREE |
21262862, 30189017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
LHGDN |
19015635 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
29443638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
19015635 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
24068586, 28067907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
22559327 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tongue Neoplasms |
Tongue Neoplasms |
BEFREE |
29443638, 29735981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
35090432 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
25550776 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zlotogora-Ogur syndrome |
Cleft lip/palate-ectodermal dysplasia syndrome |
BEFREE |
25152456 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |