| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Asthma |
Asthma |
Pubtator |
35606283 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal Recessive Primary Microcephaly |
Primary microcephaly |
Pubtator |
24138066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Metabolic |
Bone disease |
Pubtator |
22991235 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
24138066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
21835305, 28915629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
21835305, 28915629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
21835305, 37689631 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Permanent Neonatal |
Neonatal diabetes mellitus |
Pubtator |
22991235, 24138066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Transient Neonatal 1 |
Diabetes mellitus transient neonatal |
Pubtator |
24138066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| DIABETES MELLITUS, PERMANENT NEONATAL |
Diabetes Mellitus |
BEFREE |
28915629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
21835305 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
Pubtator |
21835305, 22991235, 24138066 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Rolandic |
Epilepsy |
CLINVAR_DG |
29358611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Generalized myoclonic seizures |
Myoclonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
24138066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long QT Syndrome 1 |
Long QT Syndrome |
BEFREE |
22991235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
21835305, 22991235, 24138066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME |
Microcephaly, Epilepsy, And Diabetes Syndrome |
GENOMICS_ENGLAND_DG |
21835305, 22991235, 24138066 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME |
Microcephaly, Epilepsy, And Diabetes Syndrome |
ORPHANET_DG |
21835305 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME |
Microcephaly, Epilepsy, And Diabetes Syndrome |
UNIPROT_DG |
21835305 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME |
Microcephaly, Epilepsy, And Diabetes Syndrome |
BEFREE |
22991235 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME |
Microcephaly, Epilepsy, And Diabetes Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME |
Microcephaly, Epilepsy, And Diabetes Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Mucopolysaccharidoses |
Mucopolysaccharidosis |
Pubtator |
32886284 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal diabetes mellitus |
Diabetes Mellitus |
BEFREE |
24138066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal diabetes mellitus |
Diabetes Mellitus |
GENOMICS_ENGLAND_DG |
24138066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary microcephaly |
Microcephaly |
BEFREE |
24138066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome |
Microcephaly-Epilepsy-Permanent Diabetes Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis |
Scoliosis |
Pubtator |
22991235 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
24138066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |