| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
28645799, 30905399 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apraxias |
Apraxia |
Pubtator |
25758992 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
25712080, 28645799 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
25167861, 28645799 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
28626070 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Palsy |
Cerebral palsy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chromosome 1p36 Deletion Syndrome |
Chromosome 1p36 deletion syndrome |
Pubtator |
25712080 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Palate |
Cleft palate |
Pubtator |
25712080 |
Associate |
★★★★★★☆☆☆☆ 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 |
| Clubfoot |
Clubfoot |
Pubtator |
37512036 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
25167861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
25167861 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
29507187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
29507187 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
29159987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
14638541, 23403903, 25758992, 28371282, 29511999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital ocular coloboma (disorder) |
Congenital ocular coloboma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conotruncal defect |
Conotruncal defect |
BEFREE |
24781760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostoses |
Craniosynostosis |
Pubtator |
37086723 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
28371282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn Disease |
BEFREE |
22419656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Demyelinating Diseases |
Demyelinating diseases |
Pubtator |
28645799 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental delay-facial dysmorphism syndrome due to MED13L deficiency |
Developmental Delay-Facial Dysmorphism Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental Disabilities |
Developmental disability |
Pubtator |
25758992, 30905399, 37512036, 40500968 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
28645799, 30905399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diastrophic dysplasia |
Diastrophic dysplasia |
Pubtator |
29740699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Double Outlet Right Ventricle |
Double outlet right ventricle |
Pubtator |
23403903 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
14638541, 23403903, 24267886, 24781760, 24896178, 25137640, 25167861, 25356899, 25712080, 25758992, 27899622, 28371282, 28588821, 28645799, 29159987, 5167861 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
28371282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
25712080 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial Dysmorphism with Multiple Malformations |
Facial dysmorphism syndrome |
Pubtator |
25758992, 30905399, 33930262, 34654706 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Foramen Ovale, Patent |
Patent foramen ovale |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
28371282, 29959045 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hearing Disorders |
Headache |
Pubtator |
30905399 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
23403903, 25712080, 25758992, 28645799, 30905399, 32341405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
25758992, 33930262, 37512036 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersensitivity Delayed |
Hypersensitivity |
Pubtator |
40500968 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension Pulmonary |
Pulmonary hypertension |
Pubtator |
39542781 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
14638541, 23403903, 24781760, 25626716, 25712080, 25758992, 27500536, 28371282, 28645799, 29159987, 29511999, 29951696, 29959045 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
23403903 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
23403903, 24781760, 25626716, 25712080, 25758992, 28645799, 29740699, 30905399, 33930262, 34654706, 37512036, 40500968 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Kleefstra syndrome |
Kleefstra Syndrome |
BEFREE |
28645799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kleefstra Syndrome |
Kleefstra syndrome |
Pubtator |
28645799 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| KLEEFSTRA SYNDROME 1 |
Kleefstra Syndrome |
BEFREE |
28645799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Development Disorders |
Language development disorders |
Pubtator |
28645799 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Disorders |
Language Disorders |
BEFREE |
25758992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Disorders |
Language development disorders |
Pubtator |
25758992 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
23403903, 32341405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
25712080 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
BEFREE |
29959045 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
29507187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental deficiency |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
14638541 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Retardation |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS |
Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects |
ORPHANET_DG |
23403903, 25712080 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS |
Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects |
GENOMICS_ENGLAND_DG |
25712080 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS |
Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects |
CLINVAR_DG |
28645799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS |
Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
BEFREE |
24781760, 29959045 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
14638541, 23403903, 24267886, 24781760, 24896178, 25137640, 25167861, 25356899, 25712080, 25758992, 27899622, 28371282, 28588821, 28645799, 29159987, 5167861 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
14638541, 23403903, 24267886, 24781760, 24896178, 25137640, 25167861, 25356899, 25712080, 25758992, 27899622, 28371282, 28588821, 28645799, 29159987, 5167861 View all (1 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
28191889 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
Pubtator |
28626070 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pierre Robin Syndrome |
Pierre-Robin Syndrome |
BEFREE |
25137640, 29159987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plagiocephaly |
Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound Mental Retardation |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychotic disorders |
Pubtator |
22363459 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Regular astigmatism - corneal |
Corneal astigmatism |
GWASCAT_DG |
30306274 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
28645799, 30905399 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
29511999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Delay |
Speech Delay |
BEFREE |
28645799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
Pubtator |
33930262, 37512036 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Strabismus |
Strabismus |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Transposition of Great Vessels |
Transposition Of Great Vessels |
BEFREE |
14638541, 23403903, 24781760, 25758992, 28645799, 31255603 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Transposition of Great Vessels |
Transposition of the great arteries |
Pubtator |
23403903, 24781760, 25758992, 28645799 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Transposition of Great Vessels |
Transposition Of Great Vessels |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Transposition of the Great Arteries, Dextro-Looped 1 |
Transposition Of Great Vessels |
UNIPROT_DG |
14638541 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Transposition of the Great Arteries, Dextro-Looped 1 |
Transposition Of Great Vessels |
CLINVAR_DG |
23403903, 27824329 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Transposition of the Great Arteries, Dextro-Looped 1 |
Transposition Of Great Vessels |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Transposition of the Great Arteries, Dextro-Looped 1 |
Transposition Of Great Vessels |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |