| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
26739615, 27824329, 31347273, 34948243, 37366052, 39761800 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
26763879, 26942287, 28480548, 31196716, 31347273 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
27824329, 31782611, 35367590 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
31196716 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brachycephaly |
Brachycephaly |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Celiac Disease |
Celiac disease |
Pubtator |
39761800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central visual impairment |
Central Visual Impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chromosome 17q21.31 Deletion Syndrome |
Chromosome 17q21.31 deletion syndrome |
Pubtator |
39775551 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
BEFREE |
26942287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizure with impairment of consciousness |
Dyscognitive seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
39761800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
28480548 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
26739615, 31782611, 34206215, 35052493, 35367590, 39761800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dubowitz syndrome |
Dubowitz syndrome |
Pubtator |
33098347 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
22495311, 22542183, 23375656, 24267886, 24463507, 24896178, 25533962, 25694107, 26739615, 26942287, 27148570, 28480548, 9862965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsies Myoclonic |
Myoclonic epilepsy |
Pubtator |
39761800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
31136090 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
34215294 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Febrile Convulsions |
Febrile seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
26942287 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hearing Loss |
Hearing loss |
Pubtator |
26739615 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
32037394 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
40603987 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemic seizures |
Hypoglycemic seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
25533962 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
26739615, 31347273, 31782611, 39775551 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Mental retardation |
BEFREE |
26763879, 26942287, 28480548, 31347273, 31782611 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Kabuki make-up syndrome |
Kabuki Syndrome |
BEFREE |
27799067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Development Disorders |
Language development disorders |
Pubtator |
31782611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
31335867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
31782611, 34206215 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
22495311, 22542183, 23375656, 24267886, 24463507, 24896178, 25533962, 25694107, 26739615, 26942287, 27148570, 28480548, 9862965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mowat-Wilson syndrome |
Mowat-Wilson Syndrome |
BEFREE |
27799067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
22495311, 22542183, 23375656, 24267886, 24463507, 24896178, 25533962, 25694107, 26739615, 26942287, 27148570, 28480548, 9862965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopia |
Myopia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
26942287, 31136090, 31196716, 31430754 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
28191889 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Obsessive compulsive behavior |
Obsessive-Compulsive Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
34474553 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
26763879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathies |
Polyneuropathy |
Pubtator |
34206215 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe expressive language delay |
Expressive language delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea Obstructive |
Sleep apnea |
Pubtator |
31782611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Obstructive |
Sleep Apnea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
Pubtator |
26739615 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Strabismus |
Strabismus |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Subcortical cerebral atrophy |
Subcortical cerebral atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urogenital Abnormalities |
Urogenital abnormalities |
Pubtator |
31782611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitiligo |
Vitiligo |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| White Sutton syndrome |
White-sutton syndrome |
CLINVAR_DG |
25533962, 26739615 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| White Sutton syndrome |
White-sutton syndrome |
ORPHANET_DG |
26739615 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| White Sutton syndrome |
White-sutton syndrome |
BEFREE |
27799067, 31136090, 31782611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| White Sutton syndrome |
White-sutton syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| White-Sutton syndrome |
White-sutton syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |