| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Age related macular degeneration |
Age-related macular degeneration |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
24284334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
24284334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYOTROPHIC LATERAL SCLEROSIS 1 |
Lateral Sclerosis |
GWASCAT_DG |
24529757 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE |
Amyotrophic lateral sclerosis |
GWASCAT_DG |
24529757 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) |
Amyotrophic lateral sclerosis |
GWASCAT_DG |
24529757 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis, Sporadic |
Lateral Sclerosis |
GWASCAT_DG |
24529757 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal Recessive Hereditary Spastic Paraplegia |
Spastic paraplegia |
BEFREE |
19194956, 30081747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive spastic paraplegia type 15 |
Spastic Paraplegia |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21455500, 21691751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
21455500, 21691751 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract posterior polar 4 |
Congenital cataract |
Pubtator |
30081747 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
33637369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
36315648 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complicated hereditary spastic paraplegia |
Spastic paraplegia |
BEFREE |
19917823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disorder of macula of retina |
Disorder Of Macula Of Retina |
BEFREE |
18394578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
BEFREE |
18394578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia |
Dystonia |
Pubtator |
36315648 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
24833714 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fecal Incontinence |
Bowel incontinence |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal dementia |
Frontotemporal dementia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Henoch-Schoenlein Purpura |
Henoch-Schonlein Nephritis |
BEFREE |
11342696, 17661097, 18098276, 19438933, 19917823, 20613862, 21214876, 24367272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Motor and Sensory Neuropathies |
Hereditary motor and sensory neuropathy |
BEFREE |
27217339 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
24284334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
BEFREE |
19084844, 19194956, 19805727, 19917823, 21214876, 22266886, 24367272, 31385551 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
17661097, 19917823 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Language Development Disorders |
Language development disorders |
Pubtator |
36315648 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
36315648 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leber Congenital Amaurosis |
Leber Congenital Amaurosis |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEBER CONGENITAL AMAUROSIS 13 |
Leber Congenital Amaurosis |
CLINVAR_DG |
16269441, 17389517, 22065924, 23847139, 24474277, 26047050 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21455500, 21691751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
17661097, 19917823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
29726929 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood swings |
Mood swings |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
24267886, 25497598 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
21455500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
24284334, 29381698 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
29381698, 31108397 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraparesis Spastic |
Paraparesis |
Pubtator |
33637369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia |
Paraplegia |
LHGDN |
18394578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia |
Paraplegia |
Pubtator |
25365221, 27217339, 27544499, 36315648 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
27217339 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease Secondary |
Secondary parkinson disease |
Pubtator |
24284334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease Secondary |
Secondary parkinson disease |
Pubtator |
36315648 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral axonal neuropathy |
Peripheral axonal neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral demyelinating neuropathy |
Demyelinating neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Peripheral nervous system disease |
Pubtator |
26556829 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathies |
Polyneuropathy |
Pubtator |
32999401 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32784653 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pseudobulbar Palsy |
Pseudobulbar Palsy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Dystrophies |
Retinal Dystrophy |
CLINVAR_DG |
15258582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia |
Spastic Paraplegia |
BEFREE |
18098276 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Spastic Paraplegia |
Spastic Paraplegia |
CLINVAR_DG |
18394578, 19805727, 27544497, 6944241 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Spastic Paraplegia |
Spastic Paraplegia |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Spastic paraplegia 11 autosomal recessive |
Spastic paraplegia |
Pubtator |
30081747 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 11, autosomal recessive |
Spastic Paraplegia |
BEFREE |
30606727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 15 autosomal recessive |
Spastic paraplegia |
Pubtator |
30081747 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 15, autosomal recessive |
Spondylometaphyseal dysplasia |
BEFREE |
17661097, 18098276, 18394578, 19194956, 24030950 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 15, autosomal recessive |
Spondylometaphyseal dysplasia |
GENOMICS_ENGLAND_DG |
17661097, 18394578, 19805727, 24357685, 25497598, 25842392 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 15, autosomal recessive |
Spondylometaphyseal dysplasia |
ORPHANET_DG |
18394578, 19805727 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 15, autosomal recessive |
Spondylometaphyseal dysplasia |
CLINVAR_DG |
18394578, 19805727, 19917823, 23733235, 24833714, 25497598, 25525159, 26633545, 27217339, 27544497 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 15, autosomal recessive |
Spondylometaphyseal dysplasia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
20613862, 23825025, 25365221, 26492578, 26556829, 29381698, 29726929, 30081747, 33637369, 35331153, 36029068, 36315648, 39304850 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
LHGDN |
17661097 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
BEFREE |
19805727, 20613862, 21214876, 22554690, 26492578, 29381698, 30081747, 30606727 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
CLINVAR_DG |
28832565 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar Ataxias |
Spinocerebellar ataxia |
Pubtator |
24284334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| TARSAL-CARPAL COALITION SYNDROME |
Tarsal-Carpal Coalition Syndrome |
BEFREE |
19194956, 19917823, 31385551 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Troyer syndrome |
Troyer Syndrome |
BEFREE |
22554690 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |