| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aortic coarctation |
Aortic Coarctation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold-Chiari Malformation, Type I |
Arnold-Chiari malformation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
17511879, 37957190 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardio-facio-cutaneous syndrome |
Cardiofaciocutaneous syndrome |
CLINGEN_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conduction disorder of the heart |
Conduction Disorder Of The Heart |
BEFREE |
15520314 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
27681385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital heart disease |
Congenital Heart Disease |
BEFREE |
27681385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
29669786 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Connective Tissue Diseases |
Connective tissue disease |
Pubtator |
27681385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Costello syndrome (disorder) |
Costello syndrome |
CLINGEN_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
Pubtator |
27264673 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dandy-Walker Syndrome |
Dandy-Walker Syndrome |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Developmental Disabilities |
Developmental disability |
Pubtator |
27264673, 27681385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
27681385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectopia Lentis with Ectopia of Pupil |
Ectopia lentis |
Pubtator |
27264673 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
30236064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
30236064 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Foramen Ovale, Patent |
Patent foramen ovale |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
33341678 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
27264673, 27681385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
27681385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
29669786 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
27264673 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
24790136 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the optic nerve |
Hypoplasia Of The Optic Nerve |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
25967976 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Spasm |
Infantile Spasms |
BEFREE |
30236064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
27681385, 30240112 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
27681385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
BEFREE |
30240112 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEOPARD Syndrome |
LEOPARD Syndrome |
CLINGEN_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
28074910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
BEFREE |
30240112 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
26074449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
16630891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
21566537 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck webbing |
Neck Webbing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
28074910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
30076859 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noonan Syndrome |
Noonan Syndrome |
BEFREE |
27264673, 28211982, 30240112, 30348783, 30368668 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan Syndrome |
Noonan syndrome |
Pubtator |
30348783 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan Syndrome |
Noonan Syndrome |
CLINGEN_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan syndrome-like disorder with loose anagen hair |
Noonan-Like Syndrome With Loose Anagen Hair |
CLINGEN_DG |
16630891, 24211266, 25356899, 27264673, 27681385, 27868344, 28211982 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan syndrome-like disorder with loose anagen hair |
Noonan-Like Syndrome With Loose Anagen Hair |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan syndrome-like disorder with loose anagen hair |
Noonan-Like Syndrome With Loose Anagen Hair |
BEFREE |
28211982 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 |
Noonan-Like Syndrome With Loose Anagen Hair |
UNIPROT_DG |
27264673, 27681385, 27868344, 28211982, 30368668 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 |
Noonan-Like Syndrome With Loose Anagen Hair |
GENOMICS_ENGLAND_DG |
27264673, 27681385, 28211982 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 |
Noonan-Like Syndrome With Loose Anagen Hair |
BEFREE |
30236064 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 |
Noonan-Like Syndrome With Loose Anagen Hair |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Noonan-Like Syndrome With Loose Anagen Hair |
Noonan-Like Syndrome With Loose Anagen Hair |
CLINGEN_DG |
16630891, 24211266, 25356899, 27264673, 27681385, 27868344, 28211982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noonan-Like Syndrome With Loose Anagen Hair |
Noonan-Like Syndrome With Loose Anagen Hair |
ORPHANET_DG |
27264673, 27868344, 28211982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noonan-Like Syndrome With Loose Anagen Hair |
Noonan-Like Syndrome With Loose Anagen Hair |
BEFREE |
30240112 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteogenesis Imperfecta |
Osteogenesis Imperfecta |
BEFREE |
21567925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
32266926 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
33000197, 34125004, 36975767 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
33270085 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral pulmonary artery stenosis |
Peripheral pulmonary artery stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
26074449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Stenosis |
Pulmonary Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Diseases |
Respiratory system infectious disease |
Pubtator |
37925496 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Right bundle branch block |
Bundle Branch Block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Salaam Seizures |
Salaam Seizures |
BEFREE |
30236064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
30236064 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Somatotropin deficiency |
Somatotropin Deficiency |
BEFREE |
30240112 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spasms Infantile |
Infantile spasms |
Pubtator |
30236064 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
36614304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
BEFREE |
30236064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |