| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Abnormal dermatoglyphic pattern |
Abnormal dermatoglyphic pattern |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute Undifferentiated Leukemia |
Leukemia |
BEFREE |
25248926 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
27880046 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
16530936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma of large intestine |
Colorectal adenoma |
BEFREE |
17089045 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
BEFREE |
25241147 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
BEFREE |
20826259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
30565243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
28487945 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biliary Atresia |
Biliary Atresia |
BEFREE |
21390152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biliary Atresia |
Biliary atresia |
Pubtator |
21390152 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
12386818, 18374156, 20847343, 22074947, 22677230, 24106833, 24700169, 30158566, 7612899 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
28167572 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
14621192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
Pubtator |
19011236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
28595131 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
28167572 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardio-facio-cutaneous syndrome |
Cardiofaciocutaneous syndrome |
CLINGEN_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
16862428, 24439224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
16862428, 24439224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
22677230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangitis |
Cholangitis |
BEFREE |
21390152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangitis |
Cholangitis |
Pubtator |
21390152 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholestasis of pregnancy |
Cholestasis of pregnancy |
BEFREE |
11444477 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
31393067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
27270312 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital atresia of extrahepatic bile duct |
Extrahepatic Biliary Atresia |
BEFREE |
21390152 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Costello syndrome (disorder) |
Costello syndrome |
CLINGEN_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
31785770 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental reading disorder |
Developmental dyslexia |
BEFREE |
19277710 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
20592051, 31830958 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
24284398, 31217360 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
20218740 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
12377406 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
BEFREE |
30307755 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Alzheimer Disease (FAD) |
Alzheimer disease |
BEFREE |
14621192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosarcoma |
Fibrosarcoma |
BEFREE |
3313005 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Follicular thyroid carcinoma |
Follicular Thyroid Carcinoma |
BEFREE |
14621192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gemistocytic astrocytoma |
Gemistocytic Astrocytoma |
BEFREE |
25192052 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
25192052 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington Disease |
BEFREE |
23209424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperplasia |
Hyperplasia |
Pubtator |
19011236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
27618447 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadotropic hypogonadism |
Hypogonadotropic Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isodicentric Chromosome 15 Syndrome |
Isodicentric Chromosome 15 Syndrome |
BEFREE |
12673638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
BEFREE |
24705357 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
ORPHANET_DG |
24705357 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Juvenile myelomonocytic leukemia |
Myelomonocytic Leukemia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
CTD_human_DG |
26457647 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEOPARD Syndrome |
LEOPARD Syndrome |
CLINGEN_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
30565243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
12034535, 16990778, 24705357, 8500100 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
39326641 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphangioma, Cystic |
Cystic hygroma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
12386818, 12771940, 18374156, 20847343, 22074947, 22677230, 24106833, 24700169, 30158566, 7612899 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
28595131 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
12377406, 15033445, 22899854, 25241147 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
17013881 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
15781621 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
23355466, 23382236, 24700169, 24746703, 25041015, 27659550, 28450422, 28610953, 30204910, 31257629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
16862428, 24439224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
16809759, 20847343, 6207764 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
16914723 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanocytic nevus |
Melanocytic nevus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
20585650 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
23284172, 26993606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
BEFREE |
1840564 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
22487779 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck webbing |
Neck Webbing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
12377406, 12548599, 15033445, 15949565, 16314303, 16809759, 16862428, 18374156, 22074947, 22487779, 23604529, 24106833, 2457438, 26993606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
15977987, 21691801 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibrosarcoma |
Neurofibrosarcoma |
Pubtator |
34530870 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noonan Syndrome |
Noonan Syndrome |
CLINGEN_DG |
23875798, 24705357 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Noonan Syndrome |
Noonan Syndrome |
BEFREE |
24705357 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Noonan Syndrome |
Noonan Syndrome |
ORPHANET_DG |
24705357 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Noonan syndrome |
Noonan Syndrome |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Noonan syndrome-like disorder with loose anagen hair |
Noonan-Like Syndrome With Loose Anagen Hair |
CLINGEN_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noonan-Like Syndrome With Loose Anagen Hair |
Noonan-Like Syndrome With Loose Anagen Hair |
CLINGEN_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
22880127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
14621192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
29471019 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
12377406, 15033445, 22899854, 25241147 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
17013881 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
18024597 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Radioulnar Synostosis |
Radioulnar Synostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
23900261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
31785770 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
16530936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
25041015 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
15781621 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
34584127 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
39326641 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
14621192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Undifferentiated carcinoma |
Carcinoma |
BEFREE |
14621192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular System Injuries |
Vascular system injury |
Pubtator |
19011236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |