| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 17p13.3 microduplication syndrome |
17p13.3 Duplication Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Acute Erythroblastic Leukemia |
Erythroblastic Leukemia |
BEFREE |
29729583 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
27881874 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
22749159 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenomatous Polyposis Coli |
Multiple polyposis syndrome |
BEFREE |
18075263 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Myeloblastic Leukemia |
Myeloblastic Leukemia |
BEFREE |
31744691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Medulloblastoma |
Medulloblastoma |
BEFREE |
8804025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aggressive Periodontitis |
Aggressive Periodontitis |
LHGDN |
12496397 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agyria |
Agyria |
BEFREE |
19667223 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agyria |
Agyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agyria |
Agyria |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
33754896 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease, Late Onset |
Alzheimer disease |
BEFREE |
20464283 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Angelman Syndrome |
Angelman Syndrome |
BEFREE |
11579431 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
BEFREE |
30032927, 31561398 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
30032927, 31561398 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aplastic Anemia |
Aplastic anemia |
BEFREE |
28935248 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arterial Occlusive Diseases |
Arterial occlusive disease |
Pubtator |
10917985 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
LHGDN |
11916011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
21901111, 23063769, 23483716 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
21890215, 23035971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BAND HETEROTOPIA |
Band Heterotopia |
BEFREE |
22408144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behcet Syndrome |
Behcet Syndrome |
BEFREE |
30457024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Marrow failure syndromes |
Bone marrow failure syndrome |
BEFREE |
30940907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
23813913, 38364333 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
34348664 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
22749159, 28449806 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Abnormalities |
Cardiovascular Abnormalities |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
BEFREE |
16538086, 17664403 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Myeloid Leukemia |
Acute Myeloid Leukemia |
BEFREE |
31744691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Medulloblastoma |
Medulloblastoma |
BEFREE |
8804025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chromosome 17p13.3 Duplication Syndrome |
17p13.3 Duplication Syndrome |
ORPHANET_DG |
21195811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic myeloproliferative disorder |
Myeloproliferative disorder |
BEFREE |
31473630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathies |
BEFREE |
31004438 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Classical Lissencephalies and Subcortical Band Heterotopias |
Lissencephaly |
Pubtator |
10727864, 11163260, 12621583, 16642511, 17997972, 18384621, 19050731, 21239872, 23035971, 25140959, 28380362, 28440899, 37510238, 38364333, 39709006 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Classical Lissencephalies and Subcortical Band Heterotopias |
Lissencephaly |
Pubtator |
39513527, 7573359 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Classical Lissencephaly |
Lissencephaly |
BEFREE |
10369882, 10430413, 10859564, 10987567, 11115846, 11262729, 11754098, 12621583, 12796778, 15007136, 16538086, 17028375, 17117617, 17664403, 18075263, 18384621, 18658164, 19050731, 19136950, 20376468, 20452996, 20833799, 22368300, 23483716, 24256262, 26494205, 28406398, 28440899, 28576829, 28607604, 28836069, 28837701, 29038173, 29470990, 7907669, 9063734, 9063735, 9817918, 9860301, 9989616 View all (25 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Classical Lissencephaly |
Lissencephaly |
CLINVAR_DG |
10441340, 11115846, 11502906, 12885786, 14581661, 15007136, 19667223, 26633545, 9063735 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Classical Lissencephaly |
Lissencephaly |
UNIPROT_DG |
10441340, 11163258, 11502906, 14581661, 15007136, 15173193, 9063735 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Classical Lissencephaly |
Lissencephaly |
GENOMICS_ENGLAND_DG |
15007136, 25140959 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Classical Lissencephaly |
Lissencephaly |
ORPHANET_DG |
18285425 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
18446829 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
11389474, 21876345, 23973156, 27633569, 7907669, 8028668, 9817918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
21901111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital contractural arachnodactyly |
Congenital Contractural Arachnodactyly |
BEFREE |
25479763 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Dysplasia Of The Hip |
Developmental dysplasia of the hip |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ocular coloboma (disorder) |
Congenital ocular coloboma |
BEFREE |
20599530 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital omphalocele |
Congenital omphalocele |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
28052545 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
29511446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
39445733 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
BEFREE |
24560344 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn Disease |
BEFREE |
30457024 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
BEFREE |
31344030 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Deglutition disorder |
Pubtator |
39513527 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
28911255, 30124451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
28847794, 29078029, 30032927, 30309805, 31561398 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
23035971, 38364333, 39300495 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disruptive, Impulse Control, and Conduct Disorders |
Impulse control disorder |
BEFREE |
31167116 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysgenesis of corpus callosum |
Dysplastic corpus callosum |
BEFREE |
22190508 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
BEFREE |
28954882, 31133973 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
11502906, 12668601, 24862549, 28440899, 9063735, 9817918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
11579431, 12040900, 16806828, 18446829, 20227246, 28811646, 30144370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
38364333 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Tremor |
Tremor |
BEFREE |
28911255 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ewings sarcoma |
Ewing sarcoma |
BEFREE |
30165126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gaucher Disease, Type 1 |
Gaucher Disease |
BEFREE |
31221723 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
28607604 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
28607604 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
10441340, 11502906, 14581661 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
19136950, 19287139, 23035971, 23063769 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
28052545 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
31744691, 31750243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Histiocytosis, Langerhans-Cell |
Histiocytosis |
BEFREE |
11748497 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin Disease |
BEFREE |
10967573 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
BEFREE |
18075263 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia |
Hypercholesterolemia |
Pubtator |
39445733 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
BEFREE |
19667223 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
28811646, 30109466 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Spasm |
Infantile Spasms |
BEFREE |
12040900, 16806828 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
31039157 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
17028375, 23035971, 27633569, 28836069 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Kidney Diseases |
Kidney Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
24487275, 28076835 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
10653868, 27881874, 28076835, 28187034, 30054307, 30741367, 31744691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelomonocytic, Chronic |
Myelomonocytic Leukemia |
BEFREE |
30054307 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoencephalopathy |
Leukoencephalopathy |
BEFREE |
30568308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lissencephaly |
Lissencephaly |
BEFREE |
10430413, 11115846, 11389474, 11502906, 11579436, 12040900, 12621583, 12820004, 14581661, 14962739, 15816977, 16538086, 16549273, 16724181, 17437911, 17850624, 18075263, 18285425, 18728072, 19050731, 19287139, 19380077, 19584063, 19667223, 19808989, 20207112, 20227246, 20461390, 20541031, 20599530, 20688183, 20846927, 21876345, 22190508, 22408144, 23035971, 23483716, 23583063, 23633430, 24030547, 26494205, 27747449, 28811646, 29078390, 30100227, 30568308, 31004438, 31474834, 31562232, 31585108, 6476009, 7907669, 9063734, 9063735, 9760204, 9860301 View all (41 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lissencephaly |
Lissencephaly |
Pubtator |
11261426, 12621583, 12885786, 17018134, 17997972, 19050731, 19896110, 20168084, 20466733, 20524583, 20846927, 21239872, 24885232, 28440899, 29671837, 31585108, 33565082, 35328531, 36100855, 39513527, 39709006, 9384577 View all (7 more) |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lissencephaly |
Lissencephaly |
Pubtator |
23035971 |
Inhibit |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lissencephaly |
Lissencephaly |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lissencephaly |
Lissencephaly |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lissencephaly due to LIS1 mutation |
Lissencephaly |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lissencephaly, X-Linked, 1 |
Lissencephaly, X-Linked |
BEFREE |
9817918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
29475944 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin |
Non-Hodgkin lymphoma |
BEFREE |
10967573 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
GWASCAT_DG |
29942085 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malformations of Cortical Development |
Malformation of cortical development |
BEFREE |
31481326 |
|
★★★★★★☆☆☆☆ 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 |
28953922, 34211111 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development, Group II |
Malformation of cortical development |
BEFREE |
17850624, 18075263, 22190508, 22368300, 24030547, 8028668 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
22749159, 28449806 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
28394181, 31713024, 8858348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
BEFREE |
8804025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
28847794, 29078029, 30032927, 30309805, 31561398 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
17028375, 23035971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Merkel cell carcinoma |
Merkel cell carcinoma |
BEFREE |
30772903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
22190508, 31004438 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild cognitive disorder |
Cognitive disorder |
BEFREE |
30144370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
BEFREE |
20599530 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Miller Dieker syndrome |
Miller Dieker Syndrome |
BEFREE |
10406660, 10430413, 10575211, 10828595, 11579431, 12621583, 12796778, 17437911, 18332248, 18384621, 19120042, 19136950, 19287139, 20452996, 20833799, 21569763, 22368300, 23035971, 23633430, 23933666, 28380362, 30568308, 8028668, 8858348, 9044400, 9063734, 9063735, 9860301 View all (13 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Miller Dieker syndrome |
Miller Dieker Syndrome |
ORPHANET_DG |
12621583 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Miller-Dieker syndrome |
Miller Dieker Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mood Disorders |
Mood Disorder |
GWASCAT_DG |
29942085 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mouth Neoplasms |
Mouth neoplasm |
Pubtator |
36444596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
BEFREE |
30583273 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
12877670 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
28187034, 28188970, 30618061, 30770308, 31473630, 31744691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic-Myeloproliferative Diseases |
Myelodysplastic-Myeloproliferative Diseases |
BEFREE |
28188970, 30618061 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative disease |
Myeloproliferative disorder |
BEFREE |
31473630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Ischemia |
Myocardial ischemia |
Pubtator |
10917985 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
30936070, 8543164, 8804025, 8858348 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
24256262, 28836069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
22328561 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
22887762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
22749159 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NONAKA MYOPATHY |
Inclusion body myopathy |
BEFREE |
28671143 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonorganic psychosis |
Nonorganic Psychosis |
BEFREE |
20084519, 28735797, 30902528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oculocerebrorenal Syndrome |
Oculocerebrorenal Syndrome |
BEFREE |
19380077 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
30165126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
BEFREE |
11502906, 14581661, 19808989, 25140959, 30144370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
28185758, 28247193, 28320196, 28735797, 28911255, 29042162, 29273705, 29380907, 29572948, 29891223, 30147869, 30564614, 30718220, 30737581, 30856121, 30862454, 31073716, 31167116, 31275543, 31291488, 31450510, 31725927, 31830986 View all (8 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PARKINSON DISEASE, LATE-ONSET |
Parkinson disease |
BEFREE |
29625875, 31060986 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinsonian Disorders |
Parkinson Disease |
BEFREE |
27986830, 31665686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial Trisomy |
Trisomy |
BEFREE |
12390976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
BEFREE |
16538086, 25140959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
21901111, 23063769, 23483716 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
20185515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
28911255, 30124451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive supranuclear palsy |
Progressive Supranuclear Palsy |
BEFREE |
31665686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32784653 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
BEFREE |
20084519, 28735797, 30902528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Refractory anemia with ringed sideroblasts |
Anemia With Ringed Sideroblasts |
BEFREE |
28188970, 30618061 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Refractory anemias |
Anemia |
BEFREE |
30811101 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
29511446 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome, Adult |
Respiratory Distress Syndrome |
BEFREE |
19583678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa 13 |
Retinitis Pigmentosa |
BEFREE |
10828595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| RETINOSCHISIS 1, X-LINKED, JUVENILE |
Retinoschisis, X-Linked |
BEFREE |
31089247 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rett Syndrome |
Rett Syndrome |
BEFREE |
31474834 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
16510495, 17117617, 18658164 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
PSYGENET_DG |
16510495 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizures |
Seizures |
Pubtator |
38364333 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Shwachman syndrome |
Shwachman Syndrome |
BEFREE |
15642668 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic tetraparesis |
Spastic tetraparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
BEFREE |
31060986 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
36444596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stroke |
Stroke |
Pubtator |
10917985 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subcortical Band Heterotopia |
Subcortical Band Heterotopia |
BEFREE |
10987567, 11749114, 11754098, 12185771, 14581661, 15921228, 16724181, 17664403, 19050731, 19380077, 19808989, 22408144, 25140959, 28440899, 29258966 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Subcortical Band Heterotopia |
Subcortical Band Heterotopia |
ORPHANET_DG |
18285425 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Subcortical Band Heterotopia |
Subcortical Band Heterotopia |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Subcortical Band Heterotopia |
Subcortical Band Heterotopia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Subcortical Band Heterotopia |
Subcortical Band Heterotopia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Symptomatic Infantile Spasms |
Symptomatic West syndrome |
BEFREE |
20227246 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
12390976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
40378956 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular Diseases |
BEFREE |
27124368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular arrhythmia |
Ventricular arrhythmia |
BEFREE |
28052545 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
BEFREE |
12040900, 16806828 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-Linked Lissencephaly |
Lissencephaly, X-Linked |
BEFREE |
10826984, 20688183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Zellweger Syndrome |
Zellweger Syndrome |
BEFREE |
9044400 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |