| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| ABLEPHARON-MACROSTOMIA SYNDROME |
Ablepharon macrostomia syndrome |
BEFREE |
31835126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral microphthalmos |
Microphthalmos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchospasm |
Bronchospasm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Periodontitis |
Periodontitis |
BEFREE |
28114408 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CNS disorder |
CNS Disorder |
BEFREE |
10699759 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cockayne Syndrome |
Cockayne Syndrome |
BEFREE |
10660593, 11037299, 14726016, 16246722, 16904611, 17466625, 18077223, 19008953, 21965540, 26149386, 31110295 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cockayne Syndrome, Type I |
Cockayne Syndrome |
BEFREE |
24781187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
20466620, 22363067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
36008952 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exfoliative erythroderma |
Congenital exfoliative erythroderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Nonbullous Ichthyosiform Erythroderma |
Congenital Nonbullous Ichthyosiform Erythroderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical cataract |
Cortical cataract |
BEFREE |
17466625, 26149386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dental Enamel Hypoplasia |
Dental Enamel Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
9671271 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
31064989 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
30326148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
30326148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse panbronchiolitis |
Diffuse Panbronchiolitis |
BEFREE |
12185533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectropion |
Ectropion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exfoliative dermatitis |
Exfoliative Dermatitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gonadal Dysgenesis |
Gonadal Dysgenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hamartoma Syndrome, Multiple |
Hamartoma |
BEFREE |
17466625, 26149386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HMN (Hereditary Motor Neuropathy) Proximal Type I |
Hereditary Motor Neuropathy |
BEFREE |
8981949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of mandible relative to maxilla |
Hypoplasia of mandible relative to maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired social reciprocity |
Impaired social reciprocity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconjunctivitis Sicca |
Keratoconjunctivitis Sicca |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukomalacia, Periventricular |
Periventricular Leukomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
26463438 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
10734072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
BEFREE |
18470933, 18817897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
11239393, 15221960, 15678607, 16904611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
30651597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcornea |
Microcornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29065309, 30662565 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosclerosis |
Osteosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
26463438 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma, familial |
Pancreatic carcinoma |
BEFREE |
22855135 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia/paraparesis |
Paraplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial agenesis of corpus callosum |
Partial Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periodontitis |
Periodontitis |
BEFREE |
20192866 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progeria |
Progeria |
BEFREE |
16904611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
10734072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
31014139 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Secondary malignant neoplasm of colon and/or rectum |
Colorectal Neoplasms |
BEFREE |
23174912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Central |
Sleep Apnea |
BEFREE |
24781187 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal Muscular Atrophy |
Spinal Muscular Atrophy |
BEFREE |
8981949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
24007313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the head and neck |
Carcinoma Of The Head And Neck |
BEFREE |
29065309 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
31828418 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichothiodystrophy |
Trichothiodystrophy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE |
Trichothiodystrophy |
UNIPROT_DG |
15220921 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE |
Trichothiodystrophy |
GENOMICS_ENGLAND_DG |
15220921 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE |
Trichothiodystrophy |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE |
Trichothiodystrophy |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Trichothiodystrophy Syndromes |
Trichothiodystrophy |
BEFREE |
10332046, 10660593, 11037299, 11062469, 11369901, 11734544, 12393803, 12820975, 14726016, 15590337, 16904611, 18077223, 18579452, 19008953, 19172752, 19808800, 19931493, 21730288, 22234153, 23637614, 23729738, 24986372, 25016283, 25340339, 25605938, 25620205, 30068551, 30359777, 7613092, 9012405, 9771713 View all (16 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichothiodystrophy Syndromes |
Trichothiodystrophy |
ORPHANET_DG |
12393803 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Trichothiodystrophy Syndromes |
Trichothiodystrophy |
Pubtator |
18470933, 18579452, 21730288, 25290684, 25620205, 30580289 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma Pigmentosum |
Xeroderma Pigmentosum |
BEFREE |
10064601, 10467415, 10660593, 11037299, 11239393, 11734544, 11955452, 12393803, 12820975, 14726016, 16167068, 16904611, 16947863, 18077223, 19008953, 19934020, 21571596, 22234153, 25605938, 25620205, 29616226, 7980491, 9012405, 9557707 View all (9 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma Pigmentosum |
Xeroderma pigmentosum |
Pubtator |
25620205 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum and Cockayne syndrome complex |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
BEFREE |
16167068 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma Pigmentosum, Complementation Group D |
Xeroderma Pigmentosum |
BEFREE |
11242112, 20797633, 7563073, 9427533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum, group A |
Xeroderma Pigmentosum |
BEFREE |
9753735 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum, group B |
Xeroderma Pigmentosum |
BEFREE |
29959982, 8663148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma pigmentosum, group G |
Xeroderma Pigmentosum |
BEFREE |
26149386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |