| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
BEFREE |
12398836 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alexander Disease |
Alexander disease |
Pubtator |
27798231, 31611638 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Allergic rhinitis (disorder) |
Allergic rhinitis |
BEFREE |
30525743 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
22689534 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth Disease |
BEFREE |
22734908 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
27023907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
BEFREE |
12398836 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal upper limb amyotrophy |
Distal upper limb amyotrophy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Giant Axonal Neuropathy |
Giant axonal neuropathy |
Pubtator |
17331252, 17578852, 19168853, 19520207, 26460568, 26700320, 27798231, 28300918, 31944090, 34114613, 37043392, 37903270, 3880753 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Giant axonal neuropathy |
Giant Axonal Neuropathy |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Giant Axonal Neuropathy |
Giant axonal neuropathy |
Pubtator |
25398950 |
Inhibit |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| GIANT AXONAL NEUROPATHY 1 |
Giant Axonal Neuropathy |
BEFREE |
11062483, 11971098, 14718689, 15897506, 16565160, 17578852, 19231187, 19295179, 19520207, 19782434, 20949505, 22689534, 23248352, 23316953, 23332420, 23585478, 24211141, 24273072, 24758703, 25398950, 26700320, 27000625, 27023907, 29876741, 31503551, 31655922 View all (11 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GIANT AXONAL NEUROPATHY 1 |
Giant Axonal Neuropathy |
CLINVAR_DG |
11062483, 12655563, 14718689, 23248352, 23890932 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GIANT AXONAL NEUROPATHY 1 |
Giant Axonal Neuropathy |
UNIPROT_DG |
11062483, 11971098, 12655563, 16303566, 17578852, 17587580 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GIANT AXONAL NEUROPATHY 1 |
Giant Axonal Neuropathy |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
25331947 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
17695467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27023907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
27023907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
11053687, 17256086, 19231187, 2153943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
23585478 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
19168853, 31944090 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
11062483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy |
Neuropathy |
BEFREE |
11971098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral motor neuropathy |
Motor nerve neuritis |
BEFREE |
12398836 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
CTD_human_DG |
19398414 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral Nervous System Diseases |
Peripheral nervous system disease |
Pubtator |
26556829 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
22689534 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary Diseases |
Pituitary Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
17695467 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Diseases |
Respiratory system infectious disease |
Pubtator |
28300918 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia |
Spastic Paraplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
26492578, 26556829 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |