| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Absent eyebrow |
Absent eyebrow |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
28574510 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia totalis |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplasia |
Anaplasia |
BEFREE |
28574510 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anodontia of Permanent Dentition |
Anodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANONYCHIA |
Anonychia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
LHGDN |
18025152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bartsocas-Papas syndrome |
Bartsocas-Papas Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
31579820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
35186499 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
31579820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
26148476, 35186499 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
27697098 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
27697098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHAND syndrome |
CHAND Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| COCOON SYNDROME |
Cocoon Syndrome |
BEFREE |
22197489, 25691407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ankyloblepharon |
Congenital Ankyloblepharon |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
23783273 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Curly hair-ankyloblepharon-nail dysplasia syndrome |
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome |
UNIPROT_DG |
23610050, 26129644 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Curly hair-ankyloblepharon-nail dysplasia syndrome |
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome |
ORPHANET_DG |
25098893, 28940926 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Curly hair-ankyloblepharon-nail dysplasia syndrome |
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome |
BEFREE |
28940926 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Curly hair-ankyloblepharon-nail dysplasia syndrome |
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
29257245 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
31825120 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
18025152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
BEFREE |
23783273 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down syndrome |
Pubtator |
23783273 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
23783273 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypohidrosis |
Hypohidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
29523099 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
BEFREE |
30484821 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
21044360 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
24413083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
28574510 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus |
Lupus Erythematosus |
BEFREE |
28274793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Discoid |
Lupus Erythematosus |
BEFREE |
28274793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
28274793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus Nephritis |
BEFREE |
28274793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Vulgaris |
Lupus Vulgaris |
BEFREE |
28274793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
27697098 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
28274793 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
29436617 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of tongue |
Malignant Neoplasm Of Tongue |
BEFREE |
24519546 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
31579820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30212707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
27697098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
39766280 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
Nail Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail dysplasia |
Nail dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
30212707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
18025152, 24413083, 25285922, 28574510, 29186361 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osseous ankylosis |
Osseous Ankylosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
29257245 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
33487072, 33855091, 34124253, 35310605, 38179758 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
29436617 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
16036106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Popliteal pterygium syndrome |
Popliteal Pterygium Syndrome |
BEFREE |
22197489, 25430793, 25691407, 28940926 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Popliteal Pterygium Syndrome |
Popliteal pterygium syndrome |
Pubtator |
25246526, 25691407 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
Bartsocas-Papas syndrome |
BEFREE |
22197488, 23371553, 23610050, 25430793, 25691407, 25784454, 26129644, 28940926, 29706531 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
Bartsocas-Papas syndrome |
GENOMICS_ENGLAND_DG |
22197488, 28425981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
Bartsocas-Papas syndrome |
ORPHANET_DG |
22197488, 22197489 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
Bartsocas-Papas syndrome |
UNIPROT_DG |
22197488, 22197489 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
Bartsocas-Papas syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
Bartsocas-Papas syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prekallikrein deficiency |
Prekallikrein Deficiency |
BEFREE |
29186361 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
30044012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pterygium |
Pterygium |
BEFREE |
22197488, 25430793, 29317263 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyogenic Arthritis, Pyoderma Gangrenosum and Acne |
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne |
BEFREE |
26129644 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
25285922, 29186361 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
24519546 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of skin |
Skin carcinoma |
BEFREE |
25285922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
24519546 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of the toes |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Talipes |
Talipes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thumb aplasia |
Thumb Aplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tongue Neoplasms |
Tongue cancer |
Pubtator |
24519546 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transitional cell carcinoma of bladder |
Bladder carcinoma |
BEFREE |
29867225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
29867225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
26148476, 27697098 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Van der Woude syndrome |
Van Der Woude Syndrome |
BEFREE |
25784454 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |