| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
31520110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Sickle Cell |
Sickle cell anemia |
Pubtator |
27501013 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Sickle Cell |
Anemia |
BEFREE |
27501013, 30114697 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
31191663 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
36342317 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
17016666, 17361485, 23832666, 30046396 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
GWASCAT_DG |
29059683 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
26996335 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
31812171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
22340594, 29115620 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood asthma |
Asthma |
GWASDB_DG |
17611496 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
23372686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
26822761 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
BEFREE |
29183891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
15761964, 21573768, 30046396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
15761964 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
23372686, 25117815 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of breast |
Breast hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Defect of skull ossification |
Defect Of Skull Ossification |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gallbladder Neoplasms |
Gallbladder neoplasm |
Pubtator |
21545221 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| GAPO syndrome |
GAPO Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Gastric Adenocarcinoma |
Gastric Cancer |
BEFREE |
30260046, 31520110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy |
Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy |
BEFREE |
2248288, 23602711, 25045128, 27426988, 28011198, 29436111, 31230109 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy |
Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy |
CLINVAR_DG |
23602711, 25045128 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy |
Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy |
GENOMICS_ENGLAND_DG |
23602711 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy |
Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy |
ORPHANET_DG |
23602711 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy |
Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hemangioma |
Hemangioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HEMANGIOMA, CAPILLARY INFANTILE |
Hemangioma |
GENOMICS_ENGLAND_DG |
18931684 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HEMANGIOMA, CAPILLARY INFANTILE |
Hemangioma |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HEMANGIOMA, CAPILLARY INFANTILE |
Hemangioma |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemoglobinopathies |
Hemoglobinopathy |
Pubtator |
35942209 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of nipple |
Hypoplasia Of Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis |
Hypotrichosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile hemangioma |
Hemangioma |
BEFREE |
29436111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Neoplasms |
Intestinal neoplasm |
Pubtator |
31520110 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
29115620 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
17016666, 17361485, 23832666, 30046396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
22340594, 29115620 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
15761964, 19645077, 22617387, 23222511, 23832666, 29183891, 31812171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
23372686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
22340594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
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 |
| Neoplasms |
Neoplasms |
BEFREE |
11559528, 15202019, 15777794, 17016666, 17361485, 19609240, 21573768, 22617387, 23271637, 23832666, 29863494, 29863500, 31191663, 31520110, 31812171 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrolithiasis |
Nephrolithiasis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NON RARE IN EUROPE: Infantile capillary hemangioma |
Capillary Hemangioma |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligospermia |
Oligospermia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oropharyngeal Neoplasms |
Oropharyngeal neoplasm |
Pubtator |
35459784 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
26996335 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Arterial Diseases |
Vascular Diseases |
BEFREE |
26785120 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral arterial stenosis |
Peripheral arterial stenosis |
BEFREE |
26785120 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
34523032 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
30809524 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
25036347, 31520110, 31977138 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strawberry nevus of skin |
Strawberry Nevus Of Skin |
BEFREE |
29436111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strawberry nevus of skin |
Strawberry Nevus Of Skin |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
37355885 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tooth Abnormalities |
Tooth abnormalities |
Pubtator |
23602711 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
29183891, 31622431 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular Diseases |
BEFREE |
26785120 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| von Willebrand Disease |
von Willebrand disorder |
BEFREE |
29303078 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |