| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Accessory nipple |
Accessory Nipple |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute leukemia |
Leukemia |
BEFREE |
10469454, 16923527, 27258906, 9731070 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
16923527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
10459350, 10824998, 11243405, 28097792, 28871137, 29371181, 9447825, 9731070 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute myeloid leukemia with t(8;16)(p11;p13) translocation |
Myeloid Leukemia With T(8;16)(P11;P13) Translocation |
ORPHANET_DG |
18698081, 23974201 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute myeloid leukemia with t(8;16)(p11;p13) translocation |
Myeloid Leukemia With T(8;16)(P11;P13) Translocation |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute myelomonocytic leukemia |
Myelomonocytic Leukemia |
BEFREE |
11157802, 12964013, 15085163, 16923527, 20143402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoid Cystic Carcinoma |
Adenocarcinoma |
CTD_human_DG |
23685749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Myeloblastic Leukemia |
Myeloblastic Leukemia |
BEFREE |
20143402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Medulloblastoma |
Medulloblastoma |
CTD_human_DG |
19270706 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm Abdominal |
Aortic aneurysm |
Pubtator |
26767057 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm, Abdominal |
Aortic Aneurysm |
BEFREE |
26767057 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apraxias |
Apraxia |
Pubtator |
29463886 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
36553567 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Marrow Failure Disorders |
Bone marrow failure syndromes |
Pubtator |
36880793 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
25220592, 27893709 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
25220592, 37223020 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
35332266 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
35332266 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
30622287 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
37365518 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinosarcoma |
Carcinoma |
Pubtator |
32209061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central visual impairment |
Central Visual Impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Myeloid Leukemia |
Acute Myeloid Leukemia |
BEFREE |
17805042, 20143402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Medulloblastoma |
Medulloblastoma |
CTD_human_DG |
19270706 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
CLINVAR_DG |
25728777 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Bone Marrow Failure Syndromes |
Congenital bone marrow failure syndrome |
Pubtator |
36880793 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
12893170, 30759270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital malrotation of intestine |
Congenital malrotation of intestine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neutropenia |
Congenital Neutropenia |
BEFREE |
27615324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30622287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostoses |
Craniosynostosis |
Pubtator |
25728777, 32041641 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
CLINVAR_DG |
25728777 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cryptorchidism |
Cryptorchidism |
Pubtator |
32041641 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Desmoplastic Medulloblastoma |
Medulloblastoma |
CTD_human_DG |
19270706 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
25728775, 30245513, 32041641, 36672906, 39740728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
32877461 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
31957018 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic Encephalopathy Early Infantile 3 |
Developmental and epileptic encephalopathy |
Pubtator |
31957018 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eye Abnormalities |
Eye abnormalities |
Pubtator |
25728775 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Diseases |
Gastrointestinal disease |
Pubtator |
30245513 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
Pubtator |
35499757 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gestational Trophoblastic Disease |
Gestational trophoblastic disease |
Pubtator |
31998776 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
29021135 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
29021135 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
25728775, 29899504, 30245513 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
32041641, 36573038 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
25728777 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects Atrial |
Congenital heart septal defect |
Pubtator |
36573038 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
CLINVAR_DG |
25728777 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Histiocytosis haematophagic |
Histiocytosis Haematophagic |
BEFREE |
17805042 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
39740728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
25728777, 27939639 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
25728777, 30245513, 32041641, 36573038, 39740728 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intrahepatic Cholangiocarcinoma |
Intrahepatic Cholangiocarcinoma |
BEFREE |
29559246 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Development Disorders |
Language development disorders |
Pubtator |
32041641 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngomalacia |
Laryngomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
11342350, 12771199, 12893170, 17694082, 18657848, 22337624, 28085746, 9290955, 9376594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
11742995, 23063713, 34459452, 36754959, 37031220, 9376594 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
LHGDN |
19001415 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
17296583, 17920756, 23994619, 24798186, 25220592, 30622287, 34016956, 34459452, 34853079, 36537216, 37055414, 37505185, 9166831, 9558366, 9731070 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
10459350, 10862050, 11243405, 12461753, 12676584, 15085163, 15101047, 15607963, 15657427, 16849538, 17296583, 17805042, 18528428, 18657848, 18754862, 18818702, 20143402, 23022987, 24258712, 24390445, 24446090, 24798186, 25220592, 27133397, 28097792, 28871137, 29371181, 30622287, 30759270, 9166831, 9290955, 9447825, 9558366 View all (18 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
LHGDN |
12676584, 17296583 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
BEFREE |
27615324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
24333181 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
30069049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
25220592, 27893709 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
29662167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
15607956, 25220592, 29021135, 30069049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
27893709 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
CTD_human_DG |
19270706 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Medullomyoblastoma |
Medullomyoblastoma |
CTD_human_DG |
19270706 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanotic medulloblastoma |
Medulloblastoma |
CTD_human_DG |
19270706 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 |
Mental retardation |
ORPHANET_DG |
25728775, 25728777 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 |
Mental retardation |
GENOMICS_ENGLAND_DG |
25728775, 25728777, 30245513 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 |
Mental retardation |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
25728775, 29899504 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
25728775, 25728777 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmia Syndromic 6 |
Microphthalmia |
Pubtator |
39740728 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mixed phenotype acute leukemia |
Mixed Phenotype Leukemia |
BEFREE |
17697320, 9731070 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
31073033 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29021135 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
27133397, 27615324 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neutropenia |
Neutropenia |
BEFREE |
27615324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plagiocephaly |
Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
16923527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
29662167 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Protanomaly |
Protanomaly |
BEFREE |
15101047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30622287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome, Newborn |
Congenital alveolar dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
22337624 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
Pubtator |
32041641 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |