| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
LHGDN |
19026396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
CLINVAR_DG |
26612766 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Basal Ganglia Diseases |
Basal ganglia disease |
Pubtator |
19026396, 35002959 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
37706616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choreoathetosis |
Choreoathetosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypotrichia |
Congenital Hypotrichia |
BEFREE |
24015686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental absence of tooth |
Anodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
LHGDN |
19026396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
19026396, 35002959, 37706616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia |
Dystonia |
Pubtator |
37706616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia Disorders |
Dystonia |
BEFREE |
20507343 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hallucinations |
Hallucinations |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
LHGDN |
19026396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
Pubtator |
19026396, 34877714, 37706616 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
CLINVAR_DG |
26612766 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
BEFREE |
29178422, 31472064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadotropic hypogonadism |
Hypogonadotropic Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis |
Hypotrichosis |
BEFREE |
24015686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Hypogonadotropic Hypogonadism |
Hypogonadotropic hypogonadism |
Pubtator |
33208564 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Insulin-resistant diabetes mellitus |
Insulin-resistant diabetes mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
LHGDN |
19026396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
19026396 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
24412318 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated somatotropin deficiency |
Isolated Somatotropin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
24412318 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MOHR-TRANEBJAERG SYNDROME |
MOHR-TRANEBJAERG SYNDROME |
BEFREE |
23418071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegeneration with brain iron accumulation (NBIA) |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness |
BEFREE |
21286947, 25870938 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
Pubtator |
35002959 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary hypogonadism |
Hypogonadism |
BEFREE |
29178422 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Somatotropin deficiency |
Somatotropin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Streak ovary |
Streak ovary |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subfertility, Female |
Subfertility |
BEFREE |
29178422 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Weaver syndrome |
Weaver Syndrome |
BEFREE |
20507343, 21963443, 24015686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Weaver syndrome |
Weaver syndrome |
Pubtator |
21964978 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Woodhouse Sakati syndrome |
Woodhouse Sakati Syndrome |
BEFREE |
19026396, 20507343, 21963443, 21964978, 23418071, 24015686, 26612766, 31152917, 31323129, 31347785, 31472064 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Woodhouse Sakati syndrome |
Woodhouse Sakati Syndrome |
CLINVAR_DG |
19026396, 20507343, 26612766, 26633545 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Woodhouse Sakati syndrome |
Woodhouse Sakati Syndrome |
ORPHANET_DG |
19026396, 20507343, 21964978, 24464444 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Woodhouse Sakati syndrome |
Woodhouse Sakati Syndrome |
GENOMICS_ENGLAND_DG |
20507343, 24464444 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Woodhouse Sakati syndrome |
Woodhouse sakati syndrome |
Pubtator |
21964978, 29574468, 30409855, 34732557, 34877714, 35002959, 37706616, 39342163 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Woodhouse Sakati syndrome |
Woodhouse Sakati Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Woodhouse-Sakati syndrome |
Woodhouse Sakati Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Wrinkly skin syndrome |
Wrinkly Skin Syndrome |
BEFREE |
20507343, 21963443, 24015686 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |