| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenoid Cystic Carcinoma |
Adenocarcinoma |
BEFREE |
29282901 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenoleukodystrophy |
Adrenoleukodystrophy |
BEFREE |
31671832 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
BEFREE |
17668379, 18053786, 29282901 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
33220166 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
18160256, 23873136 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis, Familial |
Amyotrophic lateral sclerosis |
BEFREE |
18160256, 23873136 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aplasia Cutis Congenita |
Aplasia Cutis Congenita |
BEFREE |
29282901 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
28389565 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
31470874 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
28389565 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
34103010 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
28969385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
28969385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
27329362, 29435054, 29556282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
36226386 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
10419456, 24138071, 24463007, 27297869, 28160548, 29242214, 29556282, 31752925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
10419456, 22722202, 23929892, 25927147, 27297869, 28160548, 29636477, 31781306, 32444848, 37834358, 40403210 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Lymphoma |
Burkitt lymphoma |
Pubtator |
19759907 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Capillary malformation (disorder) |
Capillary malformation |
BEFREE |
25416470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
28733453 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
10419456, 15133472, 17047397 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
25424347, 26002580, 33289700, 38033034 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
21777670, 28500316 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
26909918 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
23378641 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
31672157 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Small Cell |
Small cell carcinoma |
Pubtator |
25855050 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
17178867, 26512921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carotid Artery Thrombosis |
Carotid Artery Thrombosis |
BEFREE |
21821713 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Celiac Disease |
Celiac disease |
Pubtator |
35208504 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Nervous System Neoplasms |
Central Nervous System Neoplasms |
GWASCAT_DG |
28346443 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
28028179, 30186040, 30555259 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
26222778, 32453706, 34919787, 34950443, 36499586 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of brain |
Brain malformation |
BEFREE |
22500628, 25091978, 28969385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital heart disease |
Congenital Heart Disease |
BEFREE |
30535467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
23378641, 31672157 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
30535467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
CTD_human_DG |
22729223 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
BEFREE |
25833943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis marmorata |
Cutis marmorata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
31304004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
Pubtator |
37834358 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Demyelinating Diseases |
Demyelinating Diseases |
BEFREE |
31404142 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
28969385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
28969385, 37088138 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
37680885 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
19346957 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic Retinopathy |
BEFREE |
27421659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
10208883, 15627943, 21159799, 21800092, 22228622, 22729224, 25523067, 28190287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphism |
Dysmorphism |
BEFREE |
25424989 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
30108448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
30442683, 33690729, 40090626 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
21159799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
26512921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
10908564 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial lichen amyloidosis |
Lichen amyloidosis |
BEFREE |
22546513 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibroid Tumor |
Leiomyoma |
BEFREE |
30097674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal cortical dysplasia of Taylor |
Focal cortical dysplasia |
Pubtator |
36342087 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastric Adenocarcinoma |
Gastric Cancer |
BEFREE |
31480991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| GATA2 Deficiency |
Gata2 deficiency |
Pubtator |
19965620 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gingival Diseases |
Gingival diseases |
Pubtator |
31743516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
17934521, 24967401, 25501707, 26481529, 26902608, 26993778, 27422127, 31470874, 31660951 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
17934521, 24967401, 25501707, 26782072 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
24967401, 25501707, 26481529, 26902608, 26993778, 27422127, 31470874, 31660951 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioblastoma Multiforme |
Glioblastoma |
UNIPROT_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
Pubtator |
19818351, 20167810, 27422127 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
BEFREE |
25737557 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
GWASCAT_DG |
28346443 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
28733453 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
BEFREE |
31074018 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemimegalencephaly |
Hemimegalencephaly |
ORPHANET_DG |
22500628 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hemimegalencephaly |
Hemimegalencephaly |
Pubtator |
22500628, 22729223, 23101622, 23319189, 31444548 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hemimegalencephaly |
Hemimegalencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hemimegalencephaly |
Hemimegalencephaly |
BEFREE |
22729223, 23101622, 23794269, 25091978, 25451314, 28969385 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hemimegalencephaly |
Hemimegalencephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatitis C |
Hepatitis c |
Pubtator |
15133472 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung Disease |
BEFREE |
27903978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung disease |
Pubtator |
27903978 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
Pubtator |
33690729 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive Nephropathy |
Hypertensive nephropathy |
Pubtator |
33176720 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
BEFREE |
22729222, 25523067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
Pubtator |
22729222 |
Associate |
★★★★★★☆☆☆☆ 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 |
30053339 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Incontinentia Pigmenti Achromians |
Incontinentia Pigmenti Achromians |
BEFREE |
28352194 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Spasm |
Infantile Spasms |
BEFREE |
25091978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
25424989, 28283832, 28467426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Displacement |
Intervertebral disc displacement |
Pubtator |
21590431 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disk Displacement |
Intervertebral Disk Displacement |
BEFREE |
21590431 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intrahepatic Cholangiocarcinoma |
Intrahepatic Cholangiocarcinoma |
BEFREE |
31692069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
BEFREE |
28190287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leiomyoma |
Leiomyoma |
Pubtator |
36771423 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
24244539, 24247267, 25370363, 25424347, 26002580, 27611696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
25855050, 27048287, 28500316, 37731502 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
BEFREE |
23794269, 24039187, 25091978, 25416470, 25523067, 28190287, 28969385 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Macular dystrophy, corneal type 1 |
Macular corneal dystrophy |
BEFREE |
25833943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development |
Malformation of cortical development |
CTD_human_DG |
22729223 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malformations of Cortical Development |
Malformation of cortical development |
BEFREE |
25091978, 26523971 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malformations of Cortical Development |
Cortical development malformation |
Pubtator |
28969385 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant Glioma |
Glioma |
BEFREE |
20167810, 25737557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
10419456, 24138071, 24463007, 27297869, 28160548, 29242214, 29556282, 31752925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
24244539 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
11489829, 21777670, 28500316 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
17178867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
31646811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
10419456, 11489829, 28624527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
29228422, 30927924, 31576144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of thyroid |
Thyroid cancer |
BEFREE |
28560065, 28962076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
18813315, 20167810, 25722288, 26741489, 27297869, 28515962, 28624527, 29367689, 30448735, 31590614 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
15987444 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
22410780, 24463007 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome |
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome |
CTD_human_DG |
22729224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome |
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome |
ORPHANET_DG |
22729224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Megalencephaly cutis marmorata telangiectatica congenita |
Megalencephaly Cutis Marmorata Telangiectatica Congenita |
CLINVAR_DG |
22729224, 23745724, 25416470, 25523067, 28086757 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 |
Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome |
GENOMICS_ENGLAND_DG |
22500628, 22729224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 |
Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome |
UNIPROT_DG |
22500628, 22729223, 22729224, 23745724 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 |
Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome |
GENOMICS_ENGLAND_DG |
22729223 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 |
Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome |
CLINVAR_DG |
22729224, 23745724, 24705253 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
15466193, 17440074, 18451171, 18794153, 18813315, 22549727, 25452114, 28064546, 28853983, 29391600, 31138602 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
LHGDN |
15466193, 18451171, 18813315 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
18813315, 20647317, 22549727, 25452114, 25595898, 28852061, 37931033 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
Pubtator |
27548314 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
29202451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
17668379, 24039187, 25424989, 28283832, 28328126, 30053339 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly |
Microcephaly |
Pubtator |
28283832 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
33087445 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
27919956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
33794982 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
30787430 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
34944006 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10419456, 11489829, 15133472, 15466193, 17440074, 18451171, 18794153, 19818351, 21351097, 22499437, 24244539, 24247267, 24335962, 24463007, 25737557, 25855050, 26482618, 27048287, 27611696, 27708223, 28160548, 28379898, 28624527, 28705772, 28853983, 28962076, 29228422, 29367689, 30136280, 30194994, 31138602, 31470874, 31692069 View all (18 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
24039187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
29321317 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroendocrine Tumors |
Neuroendocrine Tumors |
BEFREE |
22499437 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
21777670, 24942865, 27072269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
29202451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
29367689 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oropharyngeal Neoplasms |
Oropharyngeal neoplasm |
Pubtator |
28733453 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis imperfecta type 2A |
Osteogenesis imperfecta |
Pubtator |
36226386 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
30737029 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
17178867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
LHGDN |
17178867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
27629740, 31703725, 32878513, 37303048 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
31646811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
31646811 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
26482618, 28849051, 31101684, 31160577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular nodular heterotopia |
Pubtator |
28969385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary Neoplasms |
Pituitary neoplasm |
Pubtator |
31655798 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
GENOMICS_ENGLAND_DG |
22729223 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
BEFREE |
28969385 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Polymicrogyria |
Polymicrogyria |
Pubtator |
28969385 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Polymicrogyria |
Polymicrogyria |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
10419456, 11489829, 28624527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
10419456, 16721361, 22546513 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
BEFREE |
11489829 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pseudohyperkalemia Cardiff |
Pseudohyperkalemia Cardiff |
BEFREE |
27075409 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
30136020, 31518563 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Arterial Hypertension |
Pulmonary arterial hypertension |
Pubtator |
36640125 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
23378641 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome, Adult |
Respiratory Distress Syndrome |
BEFREE |
31398659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Diseases |
Respiratory system infectious disease |
Pubtator |
37925496 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
BEFREE |
31043342 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoidosis |
Sarcoidosis |
Pubtator |
22984568 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
23974872, 26198764, 28991256, 29483656, 30285260 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
GWASDB_DG |
23974872 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
BEFREE |
28467426, 31522868 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seminoma |
Seminoma |
BEFREE |
29197138 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sepsis |
Sepsis |
Pubtator |
28296904 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
25122428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Somatotropin deficiency |
Somatotropin Deficiency |
BEFREE |
28190287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
LHGDN |
15543611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
30659640, 31582906 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
28733453, 33811778 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
29228422, 30927924, 31576144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
29228422, 31480991, 34983559 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strawberry nevus of skin |
Strawberry Nevus Of Skin |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tauopathies |
Tauopathies |
BEFREE |
25451314 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Testicular Germ Cell Tumor |
Testicular germ cell tumor |
Pubtator |
34882061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thymoma |
Thymoma |
BEFREE |
29766503 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
28849051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
28560065, 28962076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
28560065, 28962076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
22722202, 28160548, 33495420, 37569854 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
24138071, 24335962, 26741489, 28160548, 29298117 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tuberous Sclerosis |
Tuberous Sclerosis |
BEFREE |
25833943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulnar polydactyly of fingers |
Postaxial hand polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
23698120, 26148825 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urologic Neoplasms |
Urologic neoplasm |
Pubtator |
26397152 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
30283446, 31293179 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Fibroids |
Uterine Fibroids |
BEFREE |
30097674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveal melanoma |
Uveal Melanoma |
BEFREE |
30825222 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
36640125 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
BEFREE |
25091978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wilms Tumor |
Wilms tumor |
Pubtator |
32572913 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |