| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| ACROMELIC FRONTONASAL DYSOSTOSIS |
Acromelic Frontonasal Dysostosis |
BEFREE |
25105228, 26706854, 28433741, 29198722 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ACROMELIC FRONTONASAL DYSOSTOSIS |
Acromelic Frontonasal Dysostosis |
GENOMICS_ENGLAND_DG |
25105228, 26706854 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ACROMELIC FRONTONASAL DYSOSTOSIS |
Acromelic Frontonasal Dysostosis |
CLINVAR_DG |
25105228, 26706854 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ACROMELIC FRONTONASAL DYSOSTOSIS |
Acromelic Frontonasal Dysostosis |
UNIPROT_DG |
25105228 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Acromelic Frontonasal Dysostosis |
Acromelic frontonasal dysostosis |
Pubtator |
26706854, 29198722 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ACROMELIC FRONTONASAL DYSOSTOSIS |
Acromelic Frontonasal Dysostosis |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Acromelic frontonasal dysplasia |
Acromelic Frontonasal Dysostosis |
ORPHANET_DG |
25105228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acromelic frontonasal dysplasia |
Acromelic Frontonasal Dysostosis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behavioral tic |
Tourette syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Disorders, Pervasive |
Development Disorder |
GWASCAT_DG |
28540026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
BEFREE |
29198722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital cerebral hernia |
Congenital Cerebral Hernia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital meningocele |
Congenital Meningocele |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dental Caries |
Dental caries |
Pubtator |
23363935 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermoid Cyst |
Dermoid Cyst |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
25105228, 26706854, 29198722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopituitarism |
Hypopituitarism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the olfactory bulb |
Hypoplasia of the olfactory bulb |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
29198722 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Limb Deformities, Congenital |
Congenital anomaly of limb |
BEFREE |
25105228, 29198722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoma |
Lipoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Midline central nervous system lipomas |
Midline central nervous system lipomas |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
25105228, 26706854, 29198722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
GENOMICS_ENGLAND_DG |
25105228 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
28433741 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Onychogryposis |
Onychogryposis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Radial polydactyly |
Radial Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASDB_DG |
22688191 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
22688191, 26198764, 28540026, 30285260 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
BEFREE |
28433741 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Scleroderma Systemic |
Systemic sclerosis |
Pubtator |
39727004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
28433741, 29198722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
CLINVAR_DG |
29198722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondylitis Ankylosing |
Ankylosing spondylitis |
Pubtator |
39727004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
38246918 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sweet Syndrome |
Sweet Syndrome |
GENOMICS_ENGLAND_DG |
25105228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |