| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aase Smith syndrome 2 |
Aase-Smith syndrome |
ORPHANET_DG |
23812780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute leukemia |
Leukemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
11477145 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
LHGDN |
16331298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of prostate |
Prostate adenocarcinoma |
BEFREE |
11477145 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
27050411, 35766008 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Diamond-Blackfan |
Anemia |
BEFREE |
23812780 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Diamond-Blackfan |
Anemia |
ORPHANET_DG |
23812780 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Diamond-Blackfan |
Anemia |
GENOMICS_ENGLAND_DG |
28297620 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Anemia, Macrocytic |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
26498693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atypical Teratoid Rhabdoid Tumor |
Teratoid Rhabdoid Tumor |
BEFREE |
30479569 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
19166581, 35876338 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
19166581, 25316788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
16940977, 25846674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
CTD_human_DG |
16940977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
19166581 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
29930300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Benign Prostatic Hyperplasia |
Benign Prostatic Hyperplasia |
BEFREE |
11477145 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blackfan-Diamond anemia |
Blackfan-Diamond Anemia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
24719190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
27050411 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Branchioma |
Branchioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
18984771, 30813947 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
37231433 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
30172100, 31523176 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
24719190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
24977159 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
22491060 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
11641787, 11779836, 29556332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
30482776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
31523176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
26637874, 28412738 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
31523176 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
35876338 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depression Postpartum |
Major depressive disorder |
Pubtator |
35876338 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
28809783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
28809783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DIAMOND-BLACKFAN ANEMIA 12 |
Diamond-Blackfan anemia |
GENOMICS_ENGLAND_DG |
23812780, 29599205 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| DIAMOND-BLACKFAN ANEMIA 12 |
Diamond-Blackfan anemia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
26892688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
29066376, 30003937 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
35876338 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
11779836, 29556332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
11223259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
11223259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroenteritis |
Gastroenteritis |
BEFREE |
25066966 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Diffuse Gastric Cancer |
Gastric Cancer |
CTD_human_DG |
21364753 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops fetalis |
Pubtator |
29599205 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
BEFREE |
26395334 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
BEFREE |
26395334 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
29615702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility Male |
Male infertility |
Pubtator |
38012716 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
23871722, 35876338 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
25846674, 26290468, 29066376 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Degeneration |
Intervertebral Disc Degeneration |
BEFREE |
26200140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
BEFREE |
26367310 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngomalacia |
Laryngomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
27612557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, T-Cell |
T-cell leukemia |
BEFREE |
28715419, 28744013 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
15526358 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long narrow head |
Dolichocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
18984771, 30813947 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
26892688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
11223259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
24258112, 28388532, 30172100 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
17013881 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
23318417 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
BEFREE |
16865251 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
CTD_human_DG |
21364753 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
27633176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
24719190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
24719190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
31523176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 |
Syndromic Mental Retardation, X-Linked |
GENOMICS_ENGLAND_DG |
25316788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 |
Syndromic Mental Retardation, X-Linked |
UNIPROT_DG |
25316788, 25846674, 26290468 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 |
Syndromic Mental Retardation, X-Linked |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
25316782, 25316788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucopolysaccharidosis IV |
Mucopolysaccharidosis |
BEFREE |
26290468 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Endocrine Neoplasia Type 1 |
Multiple Endocrine Neoplasia |
BEFREE |
19307926 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
31014357 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
11502835, 11641787, 14648665, 17566092, 22142333, 24719190, 30172100, 31014357, 7520150 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
BEFREE |
11322167, 14648665, 29556332, 7520150 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
38327202 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
25846674, 26290468 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
28809783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
26238193 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
BEFREE |
29556332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
23202957 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
24258112, 28388532, 30172100 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
26498693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
28388532, 30172100, 37280198 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
Pubtator |
37280198 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME |
Partington syndrome |
CLINGEN_DG |
16940977, 21567917, 25316788, 25846674, 26290468, 29066376 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
23263491, 26892688, 28715419, 28744013, 29930300, 30482776, 31186416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
CTD_human_DG |
23263491 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
BEFREE |
29556332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
23318417 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
17013881 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32856855 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdoid Tumor |
Rhabdoid Tumor |
BEFREE |
30479569 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sacral lipoma |
Sacral lipoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
| Sleep Apnea Obstructive |
Sleep apnea |
Pubtator |
34529670 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondyloepiphyseal Dysplasia |
Spondyloepiphyseal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
27633176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
LHGDN |
16608517 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Stomach Neoplasms |
Stomach Neoplasms |
CTD_human_DG |
21364753 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
32559850 |
Stimulate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveal melanoma |
Uveal melanoma |
Pubtator |
34434692 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome |
Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome, X-Linked |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome |
Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome, X-Linked |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |