| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 2-3 toe syndactyly |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
29327707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ankylosing spondylitis |
Ankylosing Spondylitis |
BEFREE |
31287414 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
24841553, 29130109, 29844826, 30553134 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anus, Imperforate |
Imperforate anus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apraxias |
Apraxia |
Pubtator |
35227307 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
26775694 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
BEFREE |
12821245 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
31813652 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behavior Disorders |
Behavior Disorders |
BEFREE |
31443933 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biventricular hypertrophy |
Biventricular hypertrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain atrophy |
Brain atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
24841553, 26833328 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
25028367, 28115363, 28361952, 28720576, 29449692, 29759176, 30689267, 31169265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
28361952 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
30689267, 31073027 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
28054945, 29721084 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
29183995 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoid Tumor |
Carcinoid tumor |
Pubtator |
29327707 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoid, Goblet Cell |
Carcinoma |
BEFREE |
29327707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
31285948 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
24841553 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
27120977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
12821245 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal atresia syndrome |
Pubtator |
26833328 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choledochal Cyst |
Choledochal Cyst |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
29947866, 31299384 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
37895297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
23171055 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
22895071, 29346117 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
22895071 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
32364424 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Dysplasia Of The Hip |
Developmental dysplasia of the hip |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
28377321 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Disease |
Coronary artery disease |
Pubtator |
33204729 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dandy-Walker Syndrome |
Dandy-Walker Syndrome |
BEFREE |
28377321 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dandy-Walker Syndrome |
Dandy-Walker Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
25672900 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental Disabilities |
Developmental disability |
Pubtator |
26833328, 37289514 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diastrophic dysplasia |
Diastrophic dysplasia |
Pubtator |
24690944 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
20023629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
BEFREE |
28461505 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down syndrome |
Pubtator |
28461505 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
24607389, 24690944, 25763846, 26833328, 28688840 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eating Disorders |
Eating Disorders |
BEFREE |
30552746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
BEFREE |
25763846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epiretinal Membrane |
Epiretinal Membrane |
BEFREE |
28405744 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
24152793 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal Dementia |
Frontotemporal dementia |
Pubtator |
28251352 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Neoplasms |
Gastrointestinal neoplasm |
Pubtator |
22895071 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
BEFREE |
8088963 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
26008975, 26775694, 30958800, 30958802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
26775694, 30958802 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
26008975, 26775694, 30958800, 30958802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
27783990 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
25672900, 26833328 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Glucocorticoid Receptor Deficiency |
Glucocorticoid Receptor Deficiency |
BEFREE |
25735983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Carcinoma |
Head And Neck Carcinoma |
BEFREE |
27374971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
27374971 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
37895297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
29248719 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
28361952, 31073027 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
37895297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersensitivity Delayed |
Hypersensitivity |
Pubtator |
28251352 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
BEFREE |
28377321 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of nipple |
Hypoplasia Of Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
BEFREE |
25735983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
24607389, 25672900, 28377321, 28620049, 28720891, 30914461, 31197030, 31443933, 31813652 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
26833328, 28620049, 28720891, 31197030, 35227307 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intestinal Cancer |
Intestinal Cancer |
BEFREE |
29346117 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
31175119 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
37289514 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Promyelocytic Acute |
Promyelocytic leukemia |
Pubtator |
26886259 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
30946869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy body disease |
Pubtator |
22065755 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
22979990, 29605299 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
24152793 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Follicular |
Lymphoma |
BEFREE |
20023629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Glioma |
Glioma |
BEFREE |
27783990 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
BEFREE |
27374971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
25028367, 28115363, 28361952, 28720576, 29449692, 29759176, 30689267, 31169265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
29130109, 31285948 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
27120977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
29248719, 30118840 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
26054847, 27626314, 30338032, 30718275, 31002345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
28274596 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
20023629, 22895071, 25735983, 25814533, 27593927, 28115363, 28620049, 28720576, 29228324, 31002345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Peripheral Nerve Sheath Tumor |
Malignant Peripheral Nerve Sheath Tumor |
BEFREE |
30478285 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
30689267 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meckel Diverticulum |
Meckel Diverticulum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
28198367 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Retardation |
Mental retardation |
BEFREE |
31197030 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
BEFREE |
31671755 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked 1 |
Mental Retardation, X-Linked |
ORPHANET_DG |
24607389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 99 |
Mental Retardation, X-Linked |
UNIPROT_DG |
24607389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 99 |
Mental Retardation, X-Linked |
GENOMICS_ENGLAND_DG |
24607389, 26833328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 99 |
Mental Retardation, X-Linked |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 99 |
Mental Retardation, X-Linked |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED |
Syndromic Mental Retardation, X-Linked |
GENOMICS_ENGLAND_DG |
24607389, 26833328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED |
Syndromic Mental Retardation, X-Linked |
ORPHANET_DG |
26833328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED |
Syndromic Mental Retardation, X-Linked |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED |
Syndromic Mental Retardation, X-Linked |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meretoja syndrome |
Meretoja Syndrome |
BEFREE |
10729296, 8088963 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
BEFREE |
28198367 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
31197030 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild neurosensory hearing impairment |
Neurosensory Hearing impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
20023629, 25814533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
31680297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
31680297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
22699621, 24841553, 25130488, 25672900, 26054847, 27126996, 27517496, 27593927, 27602765, 27819142, 28274596, 28469783, 28720576, 29130109, 29248719, 29346117, 29449692, 29560986, 29721084, 29844826, 30478285, 30767316, 31059266, 31169265, 31714562 View all (10 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
28045167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
31671755 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
31671755 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
28341829, 29228324, 31443933, 31813652 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
25692226, 28446729, 29423007, 29721084, 31285948 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
26833328 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
31605775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
36047196 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
BEFREE |
16719785 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
27120977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
29248719, 30118840 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
22699621, 24841553, 29248719, 29844826 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
29183995 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
22065755 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
BEFREE |
22699621 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
GENOMICS_ENGLAND_DG |
26833328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYDACTYLY, POSTAXIAL |
Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor B-cell lymphoblastic leukemia |
Lymphoblastic Leukemia |
BEFREE |
25735983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
27602765, 30911287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
BEFREE |
16719785 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
26054847, 27626314, 30338032, 30718275, 31002345 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
27626314, 30718275 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
31002345 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Stenosis |
Pulmonary Stenosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Dysplasia |
Renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal dysplasia |
Renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
BEFREE |
31526798 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
BEFREE |
27880076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
27880076, 29498230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
28720891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis |
Scoliosis |
Pubtator |
26833328 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin lesion |
Skin Lesion |
BEFREE |
28198367 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
24292195, 27374971, 29992764 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
27374971, 29992764 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| STARGARDT DISEASE 1 (disorder) |
Stargardt disease |
BEFREE |
29038010 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
28274596 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tauopathies |
Tauopathies |
BEFREE |
27878758 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracolumbar scoliosis |
Thoracolumbar scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Turner Syndrome |
Turner Syndrome |
BEFREE |
9654198 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability |
Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability, X-Linked |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| X-linked non-syndromic intellectual disability |
Non-Syndromic Intellectual Disability, X-Linked |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |