| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma of colon |
Adenocarcinoma Of Colon |
BEFREE |
24729470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of prostate |
Prostate adenocarcinoma |
BEFREE |
24729470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Pernicious |
Pernicious anemia |
Pubtator |
34145262 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
35411967 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36232701, 37400627, 39522317 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Ataxia |
Cerebellar ataxia |
Pubtator |
35411967 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choreoathetosis |
Choreoathetosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
24729470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Combined oxidative phosphorylation defect type 13 |
Combined Oxidative Phosphorylation Deficiency |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 |
Combined Oxidative Phosphorylation Deficiency |
CLINVAR_DG |
23084291, 26633545, 27759031 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 |
Combined Oxidative Phosphorylation Deficiency |
ORPHANET_DG |
23084291 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 |
Combined Oxidative Phosphorylation Deficiency |
GENOMICS_ENGLAND_DG |
23084291, 25457163, 27604308, 31752325 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 |
Combined Oxidative Phosphorylation Deficiency |
UNIPROT_DG |
23084291 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 |
Combined Oxidative Phosphorylation Deficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital sensorineural hearing loss |
Congenital Sensorineural Hearing Loss |
BEFREE |
30244537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE (disorder) |
Deafness |
CLINGEN_DG |
23084290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL RECESSIVE 70 |
Deafness |
UNIPROT_DG |
23084290 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 70 |
Deafness |
GENOMICS_ENGLAND_DG |
25457163, 27604308, 31752325 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 70 |
Deafness |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eye Abnormalities |
Eye abnormalities |
Pubtator |
25457163 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
31752325 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hearing Loss |
Hearing loss |
Pubtator |
34194829 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
25457163 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hip Contracture |
Hip Contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
GWASCAT_DG |
30595370 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
31752325 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Degeneration |
Intervertebral disc disease |
Pubtator |
33174041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
BEFREE |
28645153 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lingual-Facial-Buccal Dyskinesia |
Orofacial dyskinesia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
21472284 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
17960560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
17960560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
16055741, 20547861, 24729470 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
16410805, 20547861, 24143183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
LHGDN |
16410805, 16505900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
25457163 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
22411789, 23084291, 24143183, 27759031, 30020492 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
Pubtator |
23084291 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Respiratory Chain Deficiencies |
Mitochondrial Respiratory Chain Deficiencies |
BEFREE |
23084291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement disorder |
Pubtator |
23084291 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19580345, 20547861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
19202553 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
19202553 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
BEFREE |
23084290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oxidative Phosphorylation Deficiencies |
Oxidative Phosphorylation Deficiency |
BEFREE |
30244537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
17960560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound static encephalopathy |
Encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
25457163 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
30244537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensory neuropathy |
Sensory neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar ataxia 25 |
Spinocerebellar Ataxia |
BEFREE |
15895562 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spinocerebellar ataxia 25 |
Spinocerebellar ataxia |
Pubtator |
35411967 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spinocerebellar ataxia 25 |
Spinocerebellar Ataxia |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spinocerebellar ataxia type 25 |
Spinocerebellar Ataxia |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spinocerebellar Ataxias |
Spinocerebellar ataxia |
Pubtator |
35411967 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |