| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Coronary Syndrome |
Coronary Syndrome |
CTD_human_DG |
21751358 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
17018783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
29125557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of colon |
Adenocarcinoma Of Colon |
BEFREE |
24682235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenocortical carcinoma |
Adrenocortical carcinoma |
BEFREE |
22170383 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
BEFREE |
16570232, 7479776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease, Late Onset |
Alzheimer disease |
BEFREE |
9225693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amblyopia |
Amblyopia |
Pubtator |
39639254 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic lateral sclerosis 1 |
Amyotrophic lateral sclerosis |
Pubtator |
23006766 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic carcinoma |
Anaplastic Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Dissection |
Aortic dissection |
Pubtator |
21288906 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aphasia |
Aphasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aplasia Cutis Congenita |
Aplasia Cutis Congenita |
BEFREE |
16570232, 7479776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
33430905, 37426641 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
11793783, 2299303, 25353337, 27736038, 28636794, 28947024, 28984253, 29110960, 29223149, 29692816, 29724395, 30772471, 30831256, 31047107, 31371165 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
BEFREE |
28280732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atypical Hemolytic Uremic Syndrome |
Hemolytic uremic syndrome |
Pubtator |
37373158 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant non-syndromic sensorineural deafness type DFNA |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Baraitser-Winter cerebrofrontofacial syndrome |
Baraitser-Winter Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BARAITSER-WINTER SYNDROME 2 |
Baraitser-Winter Syndrome |
UNIPROT_DG |
22366783 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BARAITSER-WINTER SYNDROME 2 |
Baraitser-Winter Syndrome |
GENOMICS_ENGLAND_DG |
22366783, 8941379 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BARAITSER-WINTER SYNDROME 2 |
Baraitser-Winter Syndrome |
CLINGEN_DG |
22366783, 26188271, 27240540 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BARAITSER-WINTER SYNDROME 2 |
Baraitser-Winter Syndrome |
CLINVAR_DG |
25052316 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BARAITSER-WINTER SYNDROME 2 |
Baraitser-Winter Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Blepharoptosis |
Ptosis |
BEFREE |
23756437 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
GENOMICS_ENGLAND_DG |
8941379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood Coagulation Disorders |
BEFREE |
28764996 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
15811132, 27314662, 29022486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchopulmonary Dysplasia |
Bronchopulmonary Dysplasia |
BEFREE |
28636794 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cancer Pain |
Cancer |
Pubtator |
35349390 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
34856725 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
34856725 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
33759378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
28019080 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Spindle-Cell |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinosarcoma |
Carcinoma |
Pubtator |
33217970 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical hemiatrophy |
Cerebral cortical hemiatrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular Disorders |
Cerebrovascular Disorders |
BEFREE |
11289720, 1618300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth Disease |
BEFREE |
19657941 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
31431060, 8244391 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coloboma of choroid and retina |
Coloboma Of Eye |
ORPHANET_DG |
28493397 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Coloboma of optic disc |
Coloboma of optic disc |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
24682235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
BEFREE |
31578276 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
35349390 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
24284654 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
ORPHANET_DG |
28493397 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital contractural arachnodactyly |
Congenital Contractural Arachnodactyly |
BEFREE |
12050213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital euryblepharon |
Congenital Euryblepharon |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neurologic anomalies |
Drachtman Weinblatt Sitarz syndrome |
CTD_human_DG |
22366783 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital ocular coloboma (disorder) |
Congenital ocular coloboma |
CTD_human_DG |
22366783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ocular coloboma (disorder) |
Congenital ocular coloboma |
BEFREE |
28493397 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ocular coloboma (disorder) |
Congenital ocular coloboma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
16330681, 28987235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30608912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
20226836, 29068691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
20226836 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cranioschisis |
Anencephaly |
CTD_human_DG |
22366783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
16690605, 19419963, 22718764, 29620237, 30682115, 34997062, 35054877 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness Autosomal Dominant 20 |
Deafness |
Pubtator |
13680526, 35054877 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness Autosomal Recessive 26 |
Deafness |
Pubtator |
35054877 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness, Autosomal Dominant 20 |
Deafness |
UNIPROT_DG |
13680526, 14684684, 16773128, 18804074, 19477959, 22938506, 25388789 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 20 |
Deafness |
GENOMICS_ENGLAND_DG |
8941379 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 20 |
Deafness |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deafness, Autosomal Dominant 20 |
Deafness |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deep Vein Thrombosis |
Thrombosis |
BEFREE |
20466371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
16987932 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depression, Postpartum |
Mental Depression |
BEFREE |
30498212 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
10622342, 27894822 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive Disorder |
Major depressive disorder |
Pubtator |
35349390 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
11796176 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
9568693 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathies |
Diabetic neuropathy |
Pubtator |
26156684 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysautonomia Familial |
Dysautonomia |
Pubtator |
25052316 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
13680526, 15194427, 19419963, 22366783, 2395459, 25052316, 25624931, 26188271, 27240540, 27625340, 28493397, 28496999, 9665849 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysphasia |
Dysphasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
BEFREE |
28673451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eating Disorders |
Eating Disorders |
BEFREE |
28711113 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
33217970 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
GENOMICS_ENGLAND_DG |
8941379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibroid Tumor |
Leiomyoma |
BEFREE |
12904697 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fryns-Aftimos Syndrome |
Baraitser-Winter syndrome |
BEFREE |
22366783, 23649928, 23756437, 25052316, 26188271, 27096712, 27240540, 27868373 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fryns-Aftimos Syndrome |
Baraitser-Winter syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gestational trophoblastic disease |
Hydatidiform mole |
BEFREE |
27819410 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gestational Trophoblastic Neoplasms |
Gestational Trophoblastic Neoplasms |
BEFREE |
27819410 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Primary Open Angle |
Glaucoma |
BEFREE |
29625448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
25586468, 28844499 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
25586468, 28844499 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
20209496 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
12519370, 14684684, 19419963, 22938506, 24164807, 26832775, 27096712, 29620237, 34440452, 36194208 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
29986705, 35054877 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
16330681 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
29447737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
17368652 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inclusion Body Myopathy, Sporadic |
Inclusion body myopathy |
BEFREE |
15159602 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
23756437 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
23756437 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation |
Baraitser-Winter Syndrome |
ORPHANET_DG |
22366783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic stroke |
Ischemic Stroke |
BEFREE |
19959196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leprosy |
Leprosy |
BEFREE |
9469262 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
17018783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lissencephaly |
Lissencephaly |
Pubtator |
25052316, 29671837 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Lissencephaly |
Lissencephaly |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
28456796, 30675230, 30881024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases, Obstructive |
Lung Diseases |
BEFREE |
8228125 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
38066059 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
GENOMICS_ENGLAND_DG |
8941379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development |
Cortical development malformation |
Pubtator |
32570172 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development Group II |
Cortical development malformation |
Pubtator |
23756437 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of adrenal cortex |
Adrenocortical carcinoma |
BEFREE |
22170383 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
15811132, 27314662, 29022486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
28456796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
20514505, 28019080 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
18383875, 29125557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
BEFREE |
28727228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
24284654, 24682235, 25447457, 25589272, 29923026, 30608912, 31358528, 3472224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
24682235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malnutrition |
Malnutrition |
BEFREE |
8228125 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
32326615 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Depression |
Mental Depression |
BEFREE |
27894822 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
BEFREE |
29373933, 30200911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microlissencephaly |
Microlissencephaly |
BEFREE |
26188271 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microspherocytosis |
Microspherocytosis |
BEFREE |
8547071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild cognitive disorder |
Cognitive disorder |
BEFREE |
18078695, 30577848 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
13680526, 15194427, 19419963, 22366783, 2395459, 25052316, 25624931, 26188271, 27240540, 27625340, 28493397, 28496999, 9665849 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
27557625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy, Duchenne |
Duchenne Muscular Dystrophy |
BEFREE |
28728956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
28987235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasal Polyps |
Nasal polyposis |
BEFREE |
30589994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck webbing |
Neck Webbing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
25589272, 26683520, 28456796, 30881024, 31285373, 3472224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
17018783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroendocrine Tumors |
Neuroendocrine Tumors |
BEFREE |
21036752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
28347234 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonorganic psychosis |
Nonorganic Psychosis |
BEFREE |
11936240, 27894822, 29373933 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
CLINGEN_DG |
13680526, 14684684, 16773128, 18804074, 19477959, 19497859, 19548389, 20976199, 22938506, 23506231, 24130743, 24164807, 24875298, 25388789, 25792668, 29620237, 29986705, 30599039 View all (3 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
BEFREE |
16690605, 22718764, 23506231 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrosis |
Osteochondrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
CTD_human_DG |
18924182 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoporosis, Age-Related |
Osteoporosis |
CTD_human_DG |
18924182 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis, Senile |
Osteoporosis |
CTD_human_DG |
18924182 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
BEFREE |
23549446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
28019080 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
BEFREE |
26188271 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
10907731, 11956967, 11992569, 9219874, 9932947 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pelvic Organ Prolapse |
Pelvic Organ Prolapse |
BEFREE |
22038928 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pemphigus |
Pemphigus |
Pubtator |
39593117 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
25084203, 28954297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
25084203, 28954297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular nodular heterotopia |
Pubtator |
25052316 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A |
Zellweger Syndrome |
BEFREE |
7479776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phosphate Diabetes |
Phosphate Diabetes |
BEFREE |
28369419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Osteoporosis |
Osteoporosis |
CTD_human_DG |
18924182 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
17018783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
16987932 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive pseudorheumatoid dysplasia |
Progressive Pseudorheumatoid Dysplasia |
BEFREE |
30498212 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
18383875, 29125557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
BEFREE |
11936240, 27894822, 29373933 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
BEFREE |
23756437 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
GENOMICS_ENGLAND_DG |
8941379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
29447737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary edema of mountaineers |
Pulmonary edema |
Pubtator |
40640242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30608912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoschisis |
Retinoschisis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
28776300, 30299241, 31261500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
10474060, 24275578, 29477870 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
LHGDN |
19110265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary malignant neoplasm of colon and/or rectum |
Colorectal Neoplasms |
BEFREE |
22139032, 23922111, 27010906 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Senile Plaques |
Senile Plaques |
BEFREE |
15530656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
LHGDN |
13680526 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensory neuropathy |
Sensory neuropathy |
BEFREE |
22048272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep-Disordered Breathing |
Sleep Apnea |
BEFREE |
30489041 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spermatic Cord Torsion |
Spermatic Cord Torsion |
BEFREE |
31444122 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
25577251 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the head and neck |
Carcinoma Of The Head And Neck |
BEFREE |
9831377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subcortical cerebral atrophy |
Subcortical cerebral atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subfertility |
Subfertility |
BEFREE |
16687568 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
29720235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transient Ischemic Attack |
Transient Ischemic Attack |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigonocephaly |
Trigonocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Undifferentiated carcinoma |
Carcinoma |
CTD_human_DG |
16316942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
31271297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Fibroids |
Uterine Fibroids |
BEFREE |
12904697 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Neoplasms |
Uterine neoplasm |
Pubtator |
33217970 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveoretinal Coloboma |
Uveoretinal Coloboma |
CTD_human_DG |
22366783 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |