| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acanthosis Nigricans |
Acanthosis Nigricans |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acrocephaly |
Acrocephaly |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acrocephaly |
Acrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apert syndrome |
Apert Syndrome |
BEFREE |
24578066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apraxias |
Apraxia |
Pubtator |
30758909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold Chiari Malformation |
Arnold-Chiari malformation |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold Chiari Malformation |
Arnold-Chiari malformation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold-Chiari Malformation, Type I |
Arnold-Chiari malformation |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold-Chiari Malformation, Type III |
Arnold-Chiari malformation |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold-Chiari Malformation, Type IV |
Arnold-Chiari malformation |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Auditory Processing Disorder, Central |
Auditory processing disorder |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| beta Thalassemia |
Beta thalassemia |
Pubtator |
38218889 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar disorder |
Pubtator |
27450446 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharophimosis |
Blepharophimosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
15843208, 9113991, 9461476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchomalacia |
Bronchomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36028814 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
20978205 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chiari malformation type II |
Chiari malformation |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Disorders, Pervasive |
Development Disorder |
GWASCAT_DG |
28540026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHITAYAT SYNDROME |
CHITAYAT SYNDROME |
GENOMICS_ENGLAND_DG |
26097063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHITAYAT SYNDROME |
CHITAYAT SYNDROME |
UNIPROT_DG |
27738187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHITAYAT SYNDROME |
CHITAYAT SYNDROME |
BEFREE |
30569521 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHITAYAT SYNDROME |
CHITAYAT SYNDROME |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHITAYAT SYNDROME |
CHITAYAT SYNDROME |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic kidney disease stage 5 |
Kidney Disease |
BEFREE |
10023641, 12164858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex craniosynostosis |
Craniosynostosis |
BEFREE |
23354439, 25123707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex craniosynostosis |
Craniosynostosis |
GENOMICS_ENGLAND_DG |
27738187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
30758909 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conjunctivitis |
Conjunctivitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniofacial dysostosis type 1 |
Craniofacial Dysostosis |
ORPHANET_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostoses |
Craniosynostosis |
Pubtator |
27738187, 30758909, 32370745, 34117072 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
26097063, 28694332, 30758909, 31743839 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CRANIOSYNOSTOSIS 4 |
Craniosynostosis |
GENOMICS_ENGLAND_DG |
23354439, 26097063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CRANIOSYNOSTOSIS 4 |
Craniosynostosis |
UNIPROT_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CRANIOSYNOSTOSIS 4 |
Craniosynostosis |
BEFREE |
30758909 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CRANIOSYNOSTOSIS 4 |
Craniosynostosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis, Type 1 |
Craniosynostosis |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis, Type 1 |
Craniosynostosis |
CLINVAR_DG |
23354439, 28808027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crouzon disease |
Crouzon Disease |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
34117072 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathies |
Diabetic neuropathy |
Pubtator |
29532746 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
29532746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
LHGDN |
14678752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
20643727, 23354439, 27738187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
9113991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ewings sarcoma |
Ewing sarcoma |
BEFREE |
10975680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial Dysmorphism with Multiple Malformations |
Facial dysmorphism syndrome |
Pubtator |
30758909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial lambdoid synostosis |
Lambdoid Synostosis |
ORPHANET_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
20165982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Hypertension |
Intracranial hypertension |
Pubtator |
32370745 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure |
Kidney Failure |
BEFREE |
10023641 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
BEFREE |
10023641, 12164858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Development Disorders |
Language Development Disorders |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
30758909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
LHGDN |
14611815 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
38549229 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long narrow head |
Dolichocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases, Interstitial |
Lung Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
15843208, 9113991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
20978205 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
29610475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
31743839 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanocytic nevus |
Melanocytic nevus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metopic synostosis |
Metopic synostosis |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenia Gravis |
Myasthenia gravis |
Pubtator |
27387891 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
28614298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plagiocephaly |
Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
BEFREE |
28750683 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
29610475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
36383412 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sagittal craniosynostosis |
Sagittal craniosynostosis |
BEFREE |
26097063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Ewing |
Sarcoma |
Pubtator |
35952322 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scaphycephaly |
Scaphocephaly |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scaphycephaly |
Scaphocephaly |
ORPHANET_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
25056061, 26198764, 28540026, 29483656, 30285260, 31268507 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Delay |
Speech Delay |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| stomatocytic anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synostotic Anterior Plagiocephaly |
Synostotic Anterior Plagiocephaly |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synostotic Posterior Plagiocephaly |
Synostotic Posterior Plagiocephaly |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synostotic Posterior Plagiocephaly |
Synostotic Posterior Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tracheomalacia |
Tracheomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigonocephaly |
Trigonocephaly |
CTD_human_DG |
23354439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |