| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 3 beta-Hydroxysteroid dehydrogenase deficiency |
3 beta-hydroxysteroid dehydrogenase deficiency |
UNIPROT_DG |
10599696, 10651755, 10843183, 12050213, 18252794, 22579964, 7608265, 7633426, 7633460, 7833923, 7893703, 7962268, 8060486, 8126127, 8185809, 8316254, 9719627 View all (2 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| 3 beta-Hydroxysteroid dehydrogenase deficiency |
3 beta-hydroxysteroid dehydrogenase deficiency |
BEFREE |
10651755, 10843183, 12428206, 15585552, 18252794, 22343390, 25211449, 26079780 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| 3 beta-Hydroxysteroid dehydrogenase deficiency |
3 beta-hydroxysteroid dehydrogenase deficiency |
CLINVAR_DG |
18252794 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| 3 beta-Hydroxysteroid dehydrogenase deficiency |
3 beta-hydroxysteroid dehydrogenase deficiency |
CTD_human_DG |
25526675 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| 3 beta-Hydroxysteroid dehydrogenase deficiency |
3 beta-hydroxysteroid dehydrogenase deficiency |
ORPHANET_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| 3 beta-Hydroxysteroid dehydrogenase deficiency |
3 beta-hydroxysteroid dehydrogenase deficiency |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Abdominal Cryptorchidism |
Cryptorchidism |
CTD_human_DG |
26050606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acne |
Acne |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal Cortical Adenoma |
Adrenocortical adenoma |
LHGDN |
18505908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal hyperplasia |
Adrenal hyperplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal hyperplasia 2 |
Adrenal Hyperplasia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal Hyperplasia Congenital |
Congenital adrenal hyperplasia |
Pubtator |
27626911, 27796263, 32072793, 33757164, 36553457, 37274334 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenogenital Syndrome |
Adrenogenital Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
BEFREE |
15585552, 21340167, 27082427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous genitalia, female |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
33024080 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral Cryptorchidism |
Cryptorchidism |
CTD_human_DG |
26050606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
23284679 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
23284679 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
23284679 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
38001042 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital adrenal hyperplasia |
Congenital adrenal hyperplasia |
BEFREE |
10843183, 11196452, 12428206, 12608938, 21340167, 22343390, 26079780, 27082427, 27626911, 8004103 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital adrenal hyperplasia |
Congenital adrenal hyperplasia |
CTD_human_DG |
18252794 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital adrenal hyperplasia |
Congenital adrenal hyperplasia |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital adrenal hyperplasia due to 21 hydroxylase deficiency |
Congenital adrenal hyperplasia |
BEFREE |
17496421, 22343390, 26079780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
Congenital adrenal hyperplasia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Conn Adenoma |
Conn Adenoma |
BEFREE |
25458695, 30580688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conn Syndrome |
Conn Syndrome |
BEFREE |
21801737, 28863887 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
38001042 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
CTD_human_DG |
26050606 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Deficiency of testosterone biosynthesis |
Deficiency Of Testosterone Biosynthesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectopic adrenal gland |
Ectopic adrenal gland |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
23200943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial Neoplasms |
LHGDN |
19022561 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
25137424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
29664547 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Enlarged polycystic ovaries |
Enlarged polycystic ovaries |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
BEFREE |
20660004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gynecomastia |
Gynecomastia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperaldosteronism |
Hyperaldosteronism |
Pubtator |
23257735, 24423300, 25458695, 30580688 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperandrogenism |
Hyperandrogenism |
Pubtator |
11287026 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperandrogenism |
Hyperandrogenism |
BEFREE |
30650063 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypernatriuria |
Hypernatriuria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophy of clitoris |
Hypertrophy Of Clitoris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoaldosteronism |
Hypoaldosteronism |
BEFREE |
27626911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
LHGDN |
14764821 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypospadias |
Hypospadias |
CTD_human_DG |
14764821 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypospadias |
Hypospadias |
BEFREE |
25605705 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypospadias |
Hypospadias |
Pubtator |
33757164 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypospadias, perineal |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
35757411 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left Ventricular Hypertrophy |
Left Ventricular Hypertrophy |
BEFREE |
20660004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
19363144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
BEFREE |
28589964 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Male Pseudohermaphroditism |
Male Pseudohermaphroditism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
23200943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
11912155, 17823934, 19505920, 29369461, 29803408, 9294620 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
17823934 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
23284679 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Manic |
Manic Disorder |
BEFREE |
21570127, 22356824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
28391539, 32590918 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paranoia |
Paranoia |
CTD_human_DG |
22356824 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Penile hypospadias |
Penile Hypospadias |
BEFREE |
25605705 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
CTD_human_DG |
22381227 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
23874725, 26465200, 30650063, 31276164 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
23874725, 29206944, 35757411 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
38069013 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Precocious pubarche |
Precocious Pubarche |
BEFREE |
10651755, 11287026, 15585552, 8185809 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precocious pubarche |
Precocious Pubarche |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature adrenarche |
Premature adrenarche |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
11912155, 17823934, 19505920, 29369461, 29803408, 9294620 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
LHGDN |
17823934 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
17823934 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
17823934, 23258647, 33509203 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sclerocystic Ovaries |
Sclerocystic Ovaries |
CTD_human_DG |
22381227 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unilateral Cryptorchidism |
Cryptorchidism |
CTD_human_DG |
26050606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
23284679 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |