| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Accessory nipple |
Accessory Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anus, Imperforate |
Imperforate anus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
24417746 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
24417746 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphism |
Dysmorphism |
BEFREE |
28545593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, Minor |
Epilepsy |
BEFREE |
23561846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
BEFREE |
24417746, 28900819 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
24417746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung Disease |
BEFREE |
28337824 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hirschsprung Disease |
Hirschsprung Disease |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperphosphatasia with Mental Retardation |
Hyperphosphatasia With Mental Retardation |
BEFREE |
22683086, 24417746, 27177984, 31698102 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyperphosphatasia with Mental Retardation |
Hyperphosphatasia With Mental Retardation |
ORPHANET_DG |
22683086 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyperphosphatasia with Mental Retardation |
Hyperphosphatasia with intellectual disability syndrome |
Pubtator |
22683086, 24129430, 24417746, 30813920 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyperphosphatasia with Mental Retardation |
Hyperphosphatasia With Mental Retardation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyperphosphatasia with Mental Retardation |
Hyperphosphatasia With Mental Retardation |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 |
Hyperphosphatasia With Mental Retardation |
UNIPROT_DG |
22683086, 24049131, 28337824, 28545593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 |
Hyperphosphatasia With Mental Retardation |
GENOMICS_ENGLAND_DG |
22683086, 24129430, 27604308, 28337824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 |
Hyperphosphatasia With Mental Retardation |
CLINVAR_DG |
22683086, 24417746, 28545593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperphosphatasia-intellectual disability syndrome |
Hyperphosphatasia With Mental Retardation |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
BEFREE |
28900819 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
22683086, 23561847, 30813920 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
BEFREE |
28545593 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oculomotor apraxia |
Oculomotor apraxia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oculovestibuloauditory syndrome |
Oculovestibuloauditory Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plagiocephaly |
Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
37924098 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
23561847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
23561846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |