| 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 |
| Accessory kidney |
Accessory Kidney |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ADNP syndrome |
ADNP Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Helsmoortel-Van der Aa Syndrome |
ORPHANET_DG |
24531329 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Helsmoortel-Van der Aa Syndrome |
GENOMICS_ENGLAND_DG |
24531329, 25294932 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Helsmoortel-Van der Aa Syndrome |
CLINVAR_DG |
24531329, 25169753 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Helsmoortel-Van der Aa Syndrome |
BEFREE |
27870441, 28407407, 28807863, 29475819, 29795351, 29899371, 29911927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Helsmoortel-Van der Aa Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
26639975, 31664177, 36230962, 39766225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aneurysm |
Aneurysm |
Pubtator |
36553633 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aphasia |
Aphasia |
Pubtator |
39950682 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
24531329, 27790361, 29724491, 30107084, 32275126, 32887689, 33998396, 36553633, 37366052, 38254177 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
24531329, 25646590, 28221363, 28579975, 29724491, 30107084, 30659505, 30679581, 31035039 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
CTD_human_DG |
24531329 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
Pubtator |
24531329, 27790361, 29724491, 31264075, 31664177, 32661233, 32918531, 35982159, 36230962 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
BEFREE |
25169753, 25169878, 25428252, 25955282, 27870441, 28115743, 28940660, 29724491, 29899371, 30106381, 30107084, 30664622, 31534115, 31664177 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Blepharophimosis |
Blepharophimosis |
BEFREE |
28407407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) |
Blepharophimosis, ptosis, and epicanthus inversus syndrome |
BEFREE |
28407407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
BEFREE |
28407407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood coagulation disorder |
Pubtator |
37525242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
29724491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
37525242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
31767542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Restrictive |
Restrictive cardiomyopathy |
Pubtator |
30107084 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central visual impairment |
Central Visual Impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
22956189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognitive Dysfunction |
Cognition disorder |
Pubtator |
26639975 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognitive Dysfunction |
Cognition disorder |
Pubtator |
31664177 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
27903678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
27903678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
30107084 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
BEFREE |
28407407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital Hypothyroidism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital omphalocele |
Congenital omphalocele |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
36553633 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
29724491, 31264075, 36553633, 38254177, 39950682 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
36631441 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic Retinopathy |
BEFREE |
28436035 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism Pituitary |
Pituitary dwarfism |
Pubtator |
29724491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
11013255, 22495309, 23160955, 24531329, 25057125, 25169753, 26637798, 26845707, 27031564, 28191889, 28221363 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyssomnias |
Dyssomnia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
29724491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exotropia |
Exotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial Dysmorphism with Multiple Malformations |
Facial dysmorphism syndrome |
Pubtator |
24531329 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Foramen Ovale, Patent |
Patent foramen ovale |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Growth Disorders |
Growth disorder |
Pubtator |
29724491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
29724491, 32341405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Impaired cognition |
Impaired Cognition |
BEFREE |
22956189, 30106381 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
17623483, 24531329, 28407407, 29475819, 29724491, 29899371, 30106381, 30107084, 30679581, 31035039, 31264075, 31664177 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
24531329, 29724491, 30107084, 31264075, 31664177, 36553633, 36828924, 38254177 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intestinal Neoplasms |
Intestinal neoplasm |
Pubtator |
11013255 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Development Disorders |
Language development disorders |
Pubtator |
29724491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Disorders |
Language Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
32341405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
31767542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25428252, 27903678, 29795351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
27903678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental impairment |
Mental Depression |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
17623483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Micrognathism |
Micrognathism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild cognitive disorder |
Cognitive disorder |
BEFREE |
27870441 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
11013255, 22495309, 23160955, 24531329, 25057125, 25169753, 26637798, 26845707, 27031564, 28191889, 28221363 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucocutaneous Lymph Node Syndrome |
Kawasaki disease |
Pubtator |
36553633 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
11013255, 22495309, 23160955, 24531329, 25057125, 25169753, 26637798, 26845707, 27031564, 28191889, 28221363 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
19923857 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
36631441 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
27903678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
28191889 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obsessive compulsive behavior |
Obsessive-Compulsive Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oropharyngeal Dysphagia |
Oropharyngeal Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
31767542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
11013255, 31767542, 37525242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
29724491, 30107084, 30679581, 31035039 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plagiocephaly |
Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
GWASCAT_DG |
25217961 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ptosis |
Ptosis |
BEFREE |
28407407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Relative macrocephaly |
Macrocephaly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
20598862, 24365867, 27870441, 28940660, 30172685, 30664622 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
PSYGENET_DG |
24365867 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Severe intellectual disability |
Mental retardation |
BEFREE |
29724491 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Disorders |
Sleep Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Social Communication Disorder |
Social Communication Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tauopathies |
Tauopathies |
BEFREE |
22956189, 25955282, 31664177 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombophilia due to Activated Protein C Resistance |
Thrombophilia |
Pubtator |
32661233, 39950682 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
28579975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigonocephaly |
Trigonocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
37525242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Van der Woude syndrome |
Van der woude syndrome |
Pubtator |
29724491, 29899371, 29911927, 32758449, 36553633, 38254177, 39232847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Van Maldergem Wetzburger Verloes syndrome |
Van maldergem syndrome |
Pubtator |
36553633 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
29724491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |