| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Addison Disease |
Addison`s Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
30040709 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anorexia |
Anorexia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anterior hypopituitarism |
Hypopituitarism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm |
Aortic Aneurysm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aphasia |
Aphasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
31776719 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
24002085, 33731054 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
30949164 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
30086823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar Disorder |
BEFREE |
23355257 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blindness |
Blindness |
Pubtator |
26606867 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
30227369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
35082309 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
12560876 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
33303703 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
40489465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
27716073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
35328073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Creutzfeldt-Jakob Disease, Sporadic |
Creutzfeldt-Jakob disease |
BEFREE |
24667788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Cystic Fibrosis |
BEFREE |
17382898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Cystic Fibrosis |
LHGDN |
17382898 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
17723226 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
37371486 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dissection of aorta |
Aortic dissection |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
Pubtator |
31776719 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia |
Dystonia |
Pubtator |
31776719 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
28990096 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
16620376 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
28990096 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatigue Syndrome Chronic |
Fatigue syndrome |
Pubtator |
37569433 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroparesis |
Gastroparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized myoclonic seizures |
Myoclonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hallucinations |
Hallucinations |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Carcinoma |
Head And Neck Carcinoma |
BEFREE |
18236634 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
17723226 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Block |
Heart Block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
30949164 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemianopsia |
Hemianopsia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
38447791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperthyroidism |
Hyperthyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoparathyroidism |
Hypoparathyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility Male |
Male infertility |
Pubtator |
33895935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
29340697 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Obstruction |
Intestinal Obstruction |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
BEFREE |
8449667 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEBER OPTIC ATROPHY AND DYSTONIA |
Leber Plus Disease |
UNIPROT_DG |
8644732 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leber plus disease |
Leber Plus Disease |
ORPHANET_DG |
8644732 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
CLINVAR_DG |
15576045, 16120329 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
BEFREE |
17022785, 20502985, 21414825, 24062162, 27761019 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
21826063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Machado-Joseph Disease |
Machado-Joseph Disease |
BEFREE |
29679261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular Degeneration |
Macular degeneration |
Pubtator |
25592585 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Major Depressive Disorder |
Mental Depression |
BEFREE |
23355257 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development, Group II |
Malformation of cortical development |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
BEFREE |
18236634 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
30227369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
28990096 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Maternally Inherited Leigh Syndrome |
Maternally Inherited Leigh Syndrome |
ORPHANET_DG |
20502985 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MELAS Syndrome |
MELAS Syndrome |
UNIPROT_DG |
1323207 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MELAS Syndrome |
Melas syndrome |
Pubtator |
30949164 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MELAS Syndrome |
MELAS Syndrome |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial complex I deficiency |
Mitochondrial complex deficiency |
Pubtator |
33879611, 8644732, 9685604 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX I DEFICIENCY |
Mitochondrial Complex Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
17518546, 29587845, 37371486 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Myopathies |
Mitochondrial myopathy |
BEFREE |
8384916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Myopathies |
Mitochondrial myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mouth Neoplasms |
Mouth neoplasm |
Pubtator |
27055661 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucocutaneous Lymph Node Syndrome |
Kawasaki disease |
Pubtator |
35154107 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple lipomata |
Multiple Lipomata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
35134187 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
30040709 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonorganic psychosis |
Nonorganic Psychosis |
BEFREE |
27770741 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nyctalopia |
Nyctalopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophies, Hereditary |
Hereditary optic atrophy |
CTD_human_DG |
11695835, 8662757 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
BEFREE |
22773905 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy Hereditary Leber |
Leber hereditary optic neuropathy |
Pubtator |
10933019, 16137960, 17300996, 17320357, 17366829, 17518546, 18513491, 19167085, 1959619, 20454697, 20627642, 20837795, 22879922, 22893673, 23170061, 23805034, 26606867, 26892229, 27426279, 28392196, 30730541, 31234430, 31718067, 31776719, 31888524, 31939618, 32771908, 33451738, 33566264, 33720041, 33911213, 34310464, 34415265, 35035206, 35623556, 35820885, 36074687, 36350566, 36827238, 37071596, 7926004, 8344246, 8593537, 8644732, 9055542, 9685604 View all (31 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
BEFREE |
11117434, 12271374, 16044424, 1635296, 17300996, 17320357, 18771762, 2121024, 21414825, 2286378, 22879922, 23805034, 24525545, 25909222, 26218905, 26892229, 27426279, 29366807, 29444077, 30968497, 31379041, 8099825, 8103501, 8338207, 8448903, 8449667, 9685604 View all (12 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
CLINVAR_DG |
12707444, 16120329, 1937476, 1959619 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
CTD_human_DG |
15342361, 24569607 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
UNIPROT_DG |
1959619, 1959931, 3201231, 9452107 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Neuropathy |
Optic Neuropathy |
BEFREE |
2121024 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
24148579 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pemphigoid Bullous |
Bullous pemphigoid |
Pubtator |
31824475 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral demyelinating neuropathy |
Demyelinating neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathy |
Polyneuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Preexcitation Syndrome |
Wolff-Parkinson-White Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
BEFREE |
27770741 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic episodes |
Psychosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal glomerular disease |
Renal Glomerular Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal telangiectasia |
Retinal telangiectasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
CTD_human_DG |
14623372 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensorimotor neuropathy |
Sensorimotor neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spontaneous hematomas |
Hematomas |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
37482618 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
33035689, 35464760, 37047426 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroiditis |
Thyroiditis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
27716073 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveitis |
Uveitis |
BEFREE |
30730541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular preexcitation |
Ventricular preexcitation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
17300996, 17723226, 19167085, 20837795, 23805034, 33451738, 33911213, 35035206 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
33451738 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| VLCAD deficiency |
Very long-chain acyl-coa dehydrogenase deficiency |
Pubtator |
29736106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolff-Parkinson-White Syndrome |
Wolff-Parkinson-White Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |