| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive spastic paraplegia type 74 |
Spastic Paraplegia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
36385109 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal peripheral sensory neuropathy |
Distal peripheral sensory neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
23462291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
BEFREE |
25971455, 27785568, 30258207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoencephalopathy |
Leukoencephalopathy |
BEFREE |
28671726 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
30258207 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
33890810, 36075292 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Multiple Mitochondrial Dysfunctions Syndrome |
Multiple Mitochondrial Dysfunctions Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 |
Multiple Mitochondrial Dysfunctions Syndrome |
UNIPROT_DG |
23462291 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 |
Multiple Mitochondrial Dysfunctions Syndrome |
GENOMICS_ENGLAND_DG |
23462291, 25971455, 27785568, 28671726 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 |
Multiple Mitochondrial Dysfunctions Syndrome |
ORPHANET_DG |
23462291 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 |
Multiple Mitochondrial Dysfunctions Syndrome |
BEFREE |
29767723 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 |
Multiple Mitochondrial Dysfunctions Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 |
Multiple Mitochondrial Dysfunctions Syndrome |
BEFREE |
29767723 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple mitochondrial dysfunctions syndrome type 3 |
Multiple Mitochondrial Dysfunctions Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
23462291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral axonal neuropathy |
Peripheral axonal neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
30258207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia |
Spastic Paraplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
ORPHANET_DG |
25609768 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
GENOMICS_ENGLAND_DG |
25609768, 30258207 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
BEFREE |
25609768 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Quadriplegia |
Spastic Quadriplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |