| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Attention Deficit Disorder with Hyperactivity |
Attention deficit hyperactivity disorder |
Pubtator |
36011304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
25806950 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
25806950, 26657971 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar diseases |
Pubtator |
34201538 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ceroid lipofuscinosis neuronal 8 |
Neuronal ceroid lipofuscinosis |
Pubtator |
16086686, 36011304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ceroid Lipofuscinosis, Neuronal, 7 |
Neuronal ceroid lipofuscinosis |
BEFREE |
11589000 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
Neuronal ceroid lipofuscinosis |
GENOMICS_ENGLAND_DG |
10508524, 16570191, 27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
Neuronal ceroid lipofuscinosis |
CLINVAR_DG |
10861296, 15024724, 15160397, 16828266, 19201763, 19807737, 21990111, 22220808, 26075876, 28116333 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
Neuronal ceroid lipofuscinosis |
BEFREE |
11332769, 16570191, 21990111, 30453012 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
Neuronal ceroid lipofuscinosis |
UNIPROT_DG |
15024724, 16570191, 19201763, 19431184, 19807737, 21990111, 26443629 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
Neuronal ceroid lipofuscinosis |
ORPHANET_DG |
21990111 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
Neuronal ceroid lipofuscinosis |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CLN8 disease |
Neuronal Ceroid Lipofuscinosis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
36011304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognitive Dysfunction |
Cognition disorder |
Pubtator |
36011304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizure with impairment of consciousness |
Dyscognitive seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizure with impairment of consciousness |
Dyscognitive seizures |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
28901431, 34201538 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
GWASCAT_DG |
28736931 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of eye |
Disorder Of Eye |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
25891276, 26657971, 27844444 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
17129765, 19431184, 19807737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
29422019, 34201538, 36011304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gaucher Disease |
Gaucher Disease |
BEFREE |
22388998 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gaucher Disease |
Gaucher Disease |
GWASCAT_DG |
22388998 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gaucher Disease |
Gaucher disease |
Pubtator |
22388998 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
BEFREE |
19807737 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Juvenile Neuronal Ceroid Lipofuscinosis |
Neuronal Ceroid Lipofuscinosis |
BEFREE |
30397314 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Late-Infantile Neuronal Ceroid Lipfuscinosis |
Neuronal Ceroid Lipofuscinosis |
BEFREE |
11589000, 16570191, 19807737, 26443629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
36011304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
19807737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
28901431 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor neuron atrophy |
Motor neuron atrophy |
BEFREE |
10508524, 10861296, 11073223, 11073227 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
25891276, 26657971, 27844444 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
11073227, 16086686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuronal Ceroid-Lipofuscinoses |
Neuronal Ceroid Lipofuscinosis |
BEFREE |
10508524, 10861296, 11001811, 11073223, 11073227, 11332776, 11548735, 15160397, 15459177, 15629147, 16086686, 17129765, 17560505, 19431184, 19807737, 20680390, 21990111, 22388998, 22964447, 26443629, 27844444, 28024876, 29422019, 29446145, 30453012 View all (10 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neuronal Ceroid-Lipofuscinoses |
Neuronal Ceroid Lipofuscinosis |
CLINVAR_DG |
10861296, 15024724, 15160397, 19807737, 23374165, 25326637 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Northern epilepsy syndrome |
Northern epilepsy syndrome |
GENOMICS_ENGLAND_DG |
10508524, 16570191, 27604308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Northern epilepsy syndrome |
Northern epilepsy syndrome |
UNIPROT_DG |
10508524, 21990111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Northern epilepsy syndrome |
Northern epilepsy syndrome |
BEFREE |
11589000, 15024724, 15160397, 17129765, 26657971, 27844444 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Northern epilepsy syndrome |
Northern epilepsy syndrome |
ORPHANET_DG |
21990111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Northern epilepsy syndrome |
Northern epilepsy syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Northern epilepsy syndrome |
Northern epilepsy syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
32348865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
26657971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive epilepsy-intellectual disability syndrome, Finnish type |
Progressive Epilepsy-Intellectual Disability Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
17400583 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
29422019, 34201538 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |