| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Atherosclerosis |
Atherosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
25169753 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders Inherited |
Blood coagulation disorder |
Pubtator |
21549337 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
40664994 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
31392992 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
29397868 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
25370573 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
37432996 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
25658920 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
25658920 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cockayne Syndrome |
Cockayne Syndrome |
BEFREE |
21549337, 21932319, 26072104 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coffin-Siris syndrome |
Coffin-Siris Syndrome |
BEFREE |
23929686, 25081545, 25168959, 25169878, 27511161, 27570168, 28787104, 29429572, 30123105, 31207137, 31243159 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
31217031 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital cataract |
Congenital Cataract |
BEFREE |
27511161 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
26806701 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
33799280, 34753942, 34906496 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
29754817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Digitorenocerebral Syndrome |
Digitorenocerebral Syndrome |
BEFREE |
25169878 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
28298069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
28298069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ewings sarcoma |
Ewing sarcoma |
BEFREE |
31392992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
30333046 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
30580808 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Granulomatosis with polyangiitis |
Granulomatosis With Polyangiitis |
BEFREE |
30613065 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
35241061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung Disease |
BEFREE |
27511161 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
23929686, 25169058, 25169878, 30123105, 30580808, 31243159, 31273213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
24674232, 26340334, 28649782, 30580808 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Accelerated Phase |
Myeloid leukemia |
Pubtator |
35269487 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoatrophy |
Lipoatrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Childhood Neoplasm |
Malignant Neoplasm |
BEFREE |
28945250 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
28298069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
25370573 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
30405787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
23568486, 23644491, 23698369, 25169878, 27941796, 28030837, 28418626, 28847829, 29323272, 30333046, 30397315, 30898143, 31178587, 31267096, 31597964 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
25658920 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malnutrition |
Malnutrition |
BEFREE |
22127260 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Atrophy Spinal |
Spinal muscular atrophy |
Pubtator |
36980188 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy |
Muscular dystrophy |
BEFREE |
17698609 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
23644491, 23698369, 27941796, 29861296, 30405787, 31178587, 31273213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
25195934, 29323272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nestor Guillermo progeria syndrome |
Nestor Guillermo Progeria Syndrome |
ORPHANET_DG |
21549337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nestor Guillermo progeria syndrome |
Nestor Guillermo Progeria Syndrome |
GENOMICS_ENGLAND_DG |
21549337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nestor Guillermo progeria syndrome |
Nestor Guillermo Progeria Syndrome |
UNIPROT_DG |
21549337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nestor Guillermo progeria syndrome |
Nestor Guillermo Progeria Syndrome |
BEFREE |
21932319, 25495845, 31796734 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nestor Guillermo progeria syndrome |
Nestor Guillermo Progeria Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nestor Guillermo progeria syndrome |
Nestor Guillermo Progeria Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nestor-Guillermo progeria syndrome |
Nestor Guillermo Progeria Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
23568486, 27941795, 30580808, 30898143, 31273213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuromuscular Diseases |
Neuromuscular disease |
Pubtator |
36980188 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nicolaides Baraitser syndrome |
Nicolaides Baraitser Syndrome |
BEFREE |
23929686, 25169058, 30123105, 31243159, 31288860, 31421289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noonan Syndrome 2 |
Noonan Syndrome |
BEFREE |
27279612 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
36813848 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature aging syndrome |
Premature aging |
BEFREE |
21932319 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progeria |
Progeria |
BEFREE |
22127260, 26072104, 31266244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
33323379 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdoid Tumor |
Rhabdoid Tumor |
BEFREE |
28945250 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
Pubtator |
34836971 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Right bundle branch block |
Bundle Branch Block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
26343384, 29359803 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Ewing |
Sarcoma |
Pubtator |
28844694, 31392992 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Synovial |
Synovial sarcoma |
Pubtator |
29894696, 36920288 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sinus Tachycardia |
Sinus Tachycardia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
BEFREE |
30580808 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
28298069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
30405787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| synovial sarcoma |
Synovial sarcoma |
BEFREE |
29861296, 29894696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
35022313, 36142814, 40664994 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |