|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Congenital fibrosis of extraocular muscles |
Congenital fibrosis of extraocular muscles type 1 |
rs121912585, rs121912586, rs121912587, rs121912588, rs121912589, rs121912590, rs267603451 |
N/A |
| Fibrosis Of Extraocular Muscles |
Fibrosis of extraocular muscles, congenital, 3b |
rs121912586, rs267607200, rs121912585 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Aniridia |
Congenital aniridia |
N/A |
N/A |
ClinVar |
| Arthrogryposis multiplex congenita |
arthrogryposis multiplex congenita |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Agenesis of Corpus Callosum |
Associate
|
39643435 |
| Aniridia |
Associate
|
23799907 |
| Brain Diseases |
Associate
|
39643435 |
| Carcinoma Pancreatic Ductal |
Associate
|
31489986 |
| Congenital Cranial Dysinnervation Disorders |
Associate
|
23799907, 24426772, 36494820 |
| congenital fibrosis of the extraocular muscles |
Associate
|
11882252, 12181522, 15747768, 17511870, 21042561, 21264235, 23535681, 23799907, 24715754, 27513105, 31541710, 33251926, 33806565, 36494820, 39643435 |
| Corneal Ulcer |
Associate
|
31541710 |
| Developmental Disabilities |
Associate
|
39643435 |
| Duane Retraction Syndrome |
Associate
|
36494820 |
| Exotropia |
Associate
|
31541710 |
| Fibrosis of Extraocular Muscles Congenital 3B |
Associate
|
15747768, 15827546, 19373680, 21264235, 24426772, 27513105, 28930843, 29110737, 31541710, 33251926, 36138147, 39643435 |
| Mobius Syndrome |
Associate
|
24715754 |
| Muscle Neoplasms |
Associate
|
24426772 |
| Ocular Motility Disorders |
Associate
|
27513105 |
| Ophthalmoplegia |
Associate
|
28930843 |
| Ophthalmoplegia |
Stimulate
|
9683611 |
| Optic Nerve Diseases |
Associate
|
19373680 |
| Peripheral Nervous System Diseases |
Associate
|
39643435 |
| Strabismus |
Associate
|
21042561, 39643435 |
|