| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Accessory nipple |
Accessory Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Angle Closure Glaucoma |
Angle Closure Glaucoma |
BEFREE |
25489222 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar disorder |
Pubtator |
24387768 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases, Developmental |
Bone Disease |
CTD_human_DG |
20018682 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrofaciothoracic Dysplasia |
Cerebrofaciothoracic Dysplasia |
CLINVAR_DG |
20018682, 23320496, 24194475, 24424126 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebrofaciothoracic Dysplasia |
Cerebrofaciothoracic Dysplasia |
GENOMICS_ENGLAND_DG |
20018682, 24194475, 24424126 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebrofaciothoracic Dysplasia |
Cerebrofaciothoracic Dysplasia |
BEFREE |
24194475, 24424126, 30556256 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebrofaciothoracic Dysplasia |
Cerebrofaciothoracic Dysplasia |
ORPHANET_DG |
24194475 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebrofaciothoracic dysplasia |
Cerebrofaciothoracic Dysplasia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebrofaciothoracic Dysplasia |
Cerebrofaciothoracic dysplasia |
Pubtator |
30556256 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cleft palate and bilateral cleft lip |
Cleft Palate And Bilateral Cleft Lip |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
37527660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complement Component 3 Deficiency Autosomal Recessive |
Complement component deficiency |
Pubtator |
36671475 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of kidney |
Renal agenesis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
20018682, 24424126, 31102500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Fiber Type Disproportion |
Congenital myopathy with fiber type disproportion |
BEFREE |
31102500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital fusion of ribs |
Rib fusion |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital fusion of ribs |
Rib fusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital musculoskeletal anomalies |
Congenital Musculoskeletal Anomalies |
CTD_human_DG |
20018682 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cryptorchidism |
Cryptorchidism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
27212239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
20018682, 23320496, 24194475, 24424126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphism |
Dysmorphism |
BEFREE |
30962442 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
31102500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
BEFREE |
22714896, 27707548 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma |
Glaucoma |
Pubtator |
29401312, 37527660 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma |
Glaucoma |
GWASCAT_DG |
30054594 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma Angle Closure |
Angle closure glaucoma |
Pubtator |
25489222 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma Open Angle |
Open angle glaucoma |
Pubtator |
25414181, 25489222, 25637523, 29104244, 30862618 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Open-Angle |
Glaucoma |
BEFREE |
21532571 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma, Open-Angle |
Glaucoma |
CTD_human_DG |
21532571 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma, Open-Angle |
Glaucoma |
GWASCAT_DG |
26752265, 29891935 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glaucoma, Primary Open Angle |
Glaucoma |
CTD_human_DG |
21532571 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Primary Open Angle |
Glaucoma |
BEFREE |
22714896, 24002674, 24138038, 25489222, 25637523, 25669751, 25711633, 30862618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
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 |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
20018682, 24424126, 31102500 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
CTD_human_DG |
20018682 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
20018682, 24424126, 30556256 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leukomalacia, Periventricular |
Periventricular Leukomalacia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
28972042, 30962442 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS |
Megalencephalic Leukoencephalopathy With Subcortical Cysts |
BEFREE |
11935341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental deficiency |
Mental retardation |
CTD_human_DG |
20018682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
20018682 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
20018682, 23320496, 24194475, 24424126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Odontome |
Odontome |
CTD_human_DG |
20018682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
30962442 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Poliosis |
Poliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary angle-closure glaucoma |
Angle closure glaucoma |
BEFREE |
25489222 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound Mental Retardation |
Mental retardation |
CTD_human_DG |
20018682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Stenosis |
Pulmonary Stenosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Relative macrocephaly |
Macrocephaly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
Pubtator |
24387768 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary Open Angle Glaucoma |
Open Angle Glaucoma |
CTD_human_DG |
21532571 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sprengel deformity |
Sprengel Deformity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
36671475 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulnar polydactyly of fingers |
Postaxial hand polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unilateral agenesis of kidney |
Renal aplasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Van Maldergem Wetzburger Verloes syndrome |
Van maldergem syndrome |
Pubtator |
24424126 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |