| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Amniotic Bands |
Amniotic Bands |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
25343993, 28980860, 29398120 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
ORPHANET_DG |
25343993 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
25694449, 32537934 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Anterior Horn Cell Disease |
Anterior Horn Cell Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
BEFREE |
27684565, 28657126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis |
Pubtator |
28729373, 32981894 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis-anterior horn cell disease syndrome |
Arthrogryposis-Anterior Horn Cell Disease Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Contracture |
Contracture |
Pubtator |
24243016, 28729373, 32537934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
18204449, 23421748, 24961629, 25343993, 27684565, 28884921, 3993672 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal Lobar Degeneration |
Frontotemporal dementia |
BEFREE |
28980860 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
32537934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersensitivity Delayed |
Hypersensitivity |
Pubtator |
28884921 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Language Disorders |
Language development disorders |
Pubtator |
32537934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngospasm |
Laryngospasm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lethal Arthrogryposis With Anterior Horn Cell Disease |
Lethal Arthrogryposis With Anterior Horn Cell Disease |
GENOMICS_ENGLAND_DG |
16892327, 18204449, 23421748 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lethal Arthrogryposis With Anterior Horn Cell Disease |
Lethal Arthrogryposis With Anterior Horn Cell Disease |
UNIPROT_DG |
18204449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lethal Arthrogryposis With Anterior Horn Cell Disease |
Lethal Arthrogryposis With Anterior Horn Cell Disease |
ORPHANET_DG |
18204449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lethal Arthrogryposis With Anterior Horn Cell Disease |
Lethal Arthrogryposis With Anterior Horn Cell Disease |
BEFREE |
28657126, 28884921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lethal Arthrogryposis With Anterior Horn Cell Disease |
Lethal Arthrogryposis With Anterior Horn Cell Disease |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lethal Arthrogryposis With Anterior Horn Cell Disease |
Lethal Arthrogryposis With Anterior Horn Cell Disease |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
Lethal Congenital Contracture Syndrome |
GENOMICS_ENGLAND_DG |
16892327, 18204449, 23421748 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
Lethal Congenital Contracture Syndrome |
ORPHANET_DG |
18204449 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
Lethal Congenital Contracture Syndrome |
CTD_human_DG |
18204449 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
Lethal Congenital Contracture Syndrome |
UNIPROT_DG |
18204449 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
Lethal Congenital Contracture Syndrome |
BEFREE |
22357925, 24243016, 27684565, 28657126 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lethal congenital contracture syndrome 1 |
Lethal congenital contracture syndrome |
Pubtator |
24243016, 32537934 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 1 |
Lethal Congenital Contracture Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lethal Congenital Contracture Syndrome 2 |
Lethal congenital contracture syndrome |
Pubtator |
28884921 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lethal congenital contracture syndrome type 1 |
Lethal Congenital Contracture Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood swings |
Mood swings |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Neuron Disease |
Motor neuron disease |
Pubtator |
19048072, 28729373, 32537934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Neuron Disease |
Motor Neuron Disease |
BEFREE |
28657126, 29899397 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
18204449, 23421748, 24961629, 25343993, 27684565, 28884921, 3993672 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Atrophy Spinal |
Spinal muscular atrophy |
Pubtator |
30565205 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck webbing |
Neck Webbing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
30429220, 30565205 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
30429220, 30565205 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pena-Shokeir syndrome type I |
Pena Shokeir syndrome |
BEFREE |
24961629, 30991114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pena-Shokeir syndrome type I |
Pena Shokeir syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral axonal neuropathy |
Peripheral axonal neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
34588774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
BEFREE |
28884921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vertical Talus |
Vertical Talus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |