| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency |
2-methylbutyryl-CoA dehydrogenase deficiency |
UNIPROT_DG |
10832746, 16317551 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency |
2-methylbutyryl-CoA dehydrogenase deficiency |
CLINGEN_DG |
11013134, 12837870, 16317551, 17883863, 17945527, 20547083 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency |
2-methylbutyryl-CoA dehydrogenase deficiency |
CLINVAR_DG |
15615815, 17945527, 20547083 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency |
2-methylbutyryl-CoA dehydrogenase deficiency |
ORPHANET_DG |
20547083 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 2-methylbutyryl-CoA dehydrogenase deficiency |
2-methylbutyryl-CoA dehydrogenase deficiency |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency |
2-methylbutyryl-CoA dehydrogenase deficiency |
GENOMICS_ENGLAND_DG |
27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency |
2-methylbutyryl-CoA dehydrogenase deficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
BEFREE |
25111118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
38287090 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
CTD_human_DG |
17883863 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21828234 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
30176945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
30793530, 37460577 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deficiency of butyryl-CoA dehydrogenase |
Deficiency Of Butyryl-CoA Dehydrogenase |
BEFREE |
25111118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
17143180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
BEFREE |
25111118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
BEFREE |
17143180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exotropia |
Exotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized amyotrophy |
Amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
BEFREE |
17143180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
17143180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isobutyryl-CoA dehydrogenase deficiency |
Isobutyryl-CoA Dehydrogenase Deficiency |
BEFREE |
25111118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kohlschutter Tonz syndrome |
Kohlschutter syndrome |
BEFREE |
25111118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
21562899 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Neoplasms |
Liver neoplasm |
Pubtator |
30176945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21828234 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Smith-Lemli-Opitz Syndrome |
Smith-Lemli-Opitz Syndrome |
BEFREE |
25111118 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |