| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 2-3 toe syndactyly |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenoleukodystrophy |
Adrenoleukodystrophy |
Pubtator |
8826463 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
19072283 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYOTROPHIC LATERAL SCLEROSIS 1 |
Lateral Sclerosis |
CTD_human_DG |
11796754 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amyotrophic Lateral Sclerosis, Familial |
Amyotrophic lateral sclerosis |
CTD_human_DG |
11796754 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis, Sporadic |
Lateral Sclerosis |
CTD_human_DG |
11796754 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
24768552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
24768552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroideremia |
Choroideremia |
BEFREE |
11796263 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
20004760 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
34515625 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
24768552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hermanski-Pudlak Syndrome |
Hermansky-Pudlak Syndrome |
BEFREE |
11796263 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
20004760, 28057534 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
11017088, 22002931, 28057534, 28863211, 9222958, 9620768 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
20004760, 8826463 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meckel Diverticulum |
Meckel Diverticulum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
9222958, 9620768 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
BEFREE |
11796263, 9106537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
CTD_human_DG |
8826463, 9668174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked 1 |
Mental Retardation, X-Linked |
ORPHANET_DG |
22002931 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 41 |
Mental retardation |
UNIPROT_DG |
9620768, 9668174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 41 |
Mental retardation |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 41 |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED 41 |
Mental retardation |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked Nonsyndromic |
Mental retardation |
CLINGEN_DG |
20159109, 22002931, 22291894, 9106537, 9620768, 9668174 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mild neurosensory hearing impairment |
Neurosensory Hearing impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
24768552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
LHGDN |
16596196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rett Syndrome |
Rett Syndrome |
BEFREE |
9674910 |
|
★★★★★★☆☆☆☆ 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 |
| X-linked non-syndromic intellectual disability |
Non-Syndromic Intellectual Disability, X-Linked |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |