| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
28690313 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer`s Disease |
Alzheimer disease |
GWASCAT_DG |
26830138 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention Deficit Disorder with Hyperactivity |
Attention deficit hyperactivity disorder |
Pubtator |
35052433 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Auditory Perceptual Disorders |
Auditory perceptual disorder |
Pubtator |
35052433 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
26264232 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behavior Disorders |
Behavior Disorders |
BEFREE |
27119754 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
32214004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHROMOSOME 10p12-p11 DELETION SYNDROME |
10p12-p11 Deletion Syndrome |
ORPHANET_DG |
26264232 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
32214004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
32214004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital anomaly of face |
Facial dysmorphism |
BEFREE |
26264232 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DESANTO-SHINAWI SYNDROME |
Desanto-Shinawi Syndrome |
ORPHANET_DG |
26264232 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| DESANTO-SHINAWI SYNDROME |
Desanto-Shinawi Syndrome |
CLINVAR_DG |
26757981 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| DESANTO-SHINAWI SYNDROME |
Desanto-Shinawi Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Developmental Disabilities |
Developmental disability |
Pubtator |
32214004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
29547044 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
21522184, 23033978, 25356899, 26264232, 26325558, 26757981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
34324492 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
29663678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
22258158, 26264232, 26757981, 27119754, 29663678 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
26264232 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
32214004 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
28319090 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
22258158 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
21522184, 23033978, 25356899, 26264232, 26325558, 26757981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
GWASCAT_DG |
27363682 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
35013207 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal hypoglycemia |
Hypoglycemia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
28191889 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
28319090 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Status Epilepticus |
Status epilepticus |
Pubtator |
32214004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |