|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Cortical Dysplasia With Other Brain Malformations |
Complex cortical dysplasia with other brain malformations 1 |
rs267607164, rs864321717, rs878853279, rs267607165, rs747480526, rs878853256, rs886041459, rs878853257, rs1057517908, rs878853258, rs587784505, rs1057521924, rs1131691895 |
N/A |
| Fibrosis Of Extraocular Muscles |
fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement |
rs267607162, rs864321715, rs267607163, rs864321716, rs267607164, rs864321717, rs267607165, rs1057517908, rs587784505 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abducens Nerve Diseases |
Associate
|
20393110 |
| Adenocarcinoma |
Associate
|
25921119 |
| Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis |
Associate
|
23378218 |
| Astrocytoma |
Associate
|
12946225 |
| Basal Ganglia Diseases |
Associate
|
34652576, 40179460 |
| Blepharoptosis |
Associate
|
20393110 |
| Brain Diseases |
Associate
|
39643435 |
| Brain Injuries Traumatic |
Associate
|
27530814 |
| Brain Neoplasms |
Associate
|
29022485 |
| Brain Stem Neoplasms |
Associate
|
26130693 |
| Breast Neoplasms |
Associate
|
15923415, 18796406, 20029418, 21390496, 23218766, 31795964, 32848091, 33832110 |
| Carcinoma Large Cell |
Associate
|
34453496 |
| Carcinoma Non Small Cell Lung |
Associate
|
10362110, 15749640, 19218769, 20087230, 22439756, 23803067, 24135250, 24935362, 25769882, 25921119, 29439899, 33099907, 37646890, 37774051 |
| Carcinoma Ovarian Epithelial |
Associate
|
26198101 |
| Carcinoma Papillary |
Associate
|
20673976 |
| Carcinoma Renal Cell |
Stimulate
|
29022485 |
| Carcinoma Renal Cell |
Associate
|
37919386 |
| Carcinoma Squamous Cell |
Associate
|
26165688, 34659450 |
| Carcinosarcoma |
Associate
|
22209775, 32114514 |
| Cardiomyopathy Restrictive |
Associate
|
24612975, 36174041 |
| Central Nervous System Vascular Malformations |
Associate
|
28299356, 34652576 |
| Cerebellar Diseases |
Associate
|
26130693, 34652576 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
Associate
|
26639658 |
| Colonic Neoplasms |
Associate
|
27188792 |
| Colorectal Neoplasms |
Associate
|
19287064, 26553611, 27188792, 27771732, 28949378 |
| Colorectal Neoplasms |
Stimulate
|
30583584 |
| Congenital Abnormalities |
Associate
|
23321512 |
| Congenital Cranial Dysinnervation Disorders |
Associate
|
23378218, 25500261, 36494820 |
| congenital fibrosis of the extraocular muscles |
Associate
|
12181522, 20393110, 20829227, 25559402, 26639658, 28299356, 31302631, 31541710, 33649541, 33806565, 34652576, 36494820 |
| Contracture |
Associate
|
34652576 |
| Corneal Dystrophy Band Shaped |
Associate
|
31541710 |
| COVID 19 |
Associate
|
37291167 |
| Cranial Nerve Diseases |
Associate
|
26639658 |
| Demyelinating Diseases |
Associate
|
33389762 |
| Developmental Disabilities |
Associate
|
23378218, 26639658, 34863918, 39643435 |
| Duane Retraction Syndrome |
Associate
|
36494820 |
| Endocrine System Diseases |
Associate
|
25559402 |
| Esophageal Neoplasms |
Associate
|
29022485 |
| Exotropia |
Associate
|
20393110, 34652576 |
| Facial Dysmorphism with Multiple Malformations |
Associate
|
34652576 |
| Facial Paralysis |
Associate
|
34652576 |
| Familial cyclic vomiting syndrome |
Associate
|
23378218 |
| Fibrosis of Extraocular Muscles Congenital 3B |
Associate
|
20393110, 29110737 |
| Gait Ataxia |
Associate
|
34652576 |
| Gait Disorders Neurologic |
Associate
|
34652576 |
| Glioblastoma |
Associate
|
12946225, 25244496, 27579614 |
| Growth Disorders |
Associate
|
34863918 |
| Gyrate Atrophy |
Associate
|
26639658 |
| Hearing Disorders |
Associate
|
34652576 |
| Hyperopia |
Associate
|
34863918 |
| Hyperplasia |
Associate
|
24232867 |
| Hypogonadism |
Associate
|
23378218, 25559402, 34652576 |
| Hypoxia |
Stimulate
|
23364970, 25244496 |
| Hypoxia |
Associate
|
24005572 |
| Hypoxia Brain |
Stimulate
|
25244496 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
27586205 |
| Inflammation |
Associate
|
30583584 |
| Intellectual Disability |
Associate
|
23378218, 25559402, 26639658, 30272120, 34652576 |
| Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies |
Associate
|
34863918 |
| Kallmann Syndrome |
Associate
|
23378218, 25559402, 31628846, 34652576 |
| Leiomyosarcoma |
Associate
|
30034996 |
| Leukoencephalopathies |
Associate
|
30272120 |
| Lissencephaly |
Associate
|
26564436 |
| Lung Neoplasms |
Stimulate
|
29022485 |
| Lymphatic Metastasis |
Associate
|
25921119, 33832110 |
| Lymphoma Follicular |
Associate
|
24232867 |
| Malformations of Cortical Development |
Associate
|
20829227, 26130693, 26639658, 28299356, 32570172, 33649541, 34652576 |
| Malformations of Cortical Development Group II |
Associate
|
20829227 |
| Medulloblastoma |
Associate
|
29869738 |
| Melanoma |
Associate
|
18086570, 19122647, 29022485 |
| Melanoma Cutaneous Malignant |
Associate
|
28024114 |
| Microcephaly |
Associate
|
34863918 |
| Mobius Syndrome |
Associate
|
23378218, 28299356 |
| monocular elevation deficiency |
Associate
|
31302631 |
| Muscle Neoplasms |
Associate
|
23378218 |
| Muscle Weakness |
Associate
|
23378218, 25559402, 34652576 |
| Muscular Atrophy |
Associate
|
20393110 |
| Nasopharyngeal Carcinoma |
Associate
|
29747653 |
| Neoplasm Metastasis |
Associate
|
30054102, 32121295, 32848091 |
| Neoplasms |
Associate
|
11300931, 15923415, 18505052, 18796406, 19218769, 19287064, 19468031, 21045157, 21289518, 23803067, 24005572, 25921119, 26165688, 26198101, 27188792, 27284014, 27988838, 28024114, 29022485, 37646890 View all (5 more) |
| Neoplasms Cystic Mucinous and Serous |
Stimulate
|
23585021 |
| Neoplasms Squamous Cell |
Associate
|
26165688 |
| Neoplasms Unknown Primary |
Associate
|
18505052 |
| Nerve Degeneration |
Associate
|
33251771 |
| Neurofibroma |
Associate
|
18796406 |
| Neurofibrosarcoma |
Associate
|
18796406 |
| Neurologic Manifestations |
Associate
|
20829227, 22591407 |
| Nevus |
Inhibit
|
28024114 |
| Nystagmus Pathologic |
Associate
|
26639658 |
| Ocular Motility Disorders |
Associate
|
20829227 |
| Odontoma |
Associate
|
27586205 |
| Olfaction Disorders |
Associate
|
23378218, 25559402 |
| Ophthalmoplegia |
Associate
|
20393110, 28299356, 34652576 |
| Optic Nerve Hypoplasia |
Associate
|
20393110 |
| Oropharyngeal Neoplasms |
Associate
|
25380690 |
| Osteoarthritis |
Associate
|
37291167 |
| Ovarian Diseases |
Associate
|
22209775 |
| Ovarian Neoplasms |
Associate
|
10362110, 22684772, 23394580, 24005572, 26198101, 30570863, 32951896, 37718345 |
| Pancreatic Neoplasms |
Stimulate
|
29022485 |
| Pancreatic Neoplasms |
Associate
|
34192548 |
| Peripheral Nervous System Diseases |
Associate
|
23378218, 34652576, 39643435 |
| Polyneuropathies |
Associate
|
23378218, 33389762 |
| Pontocerebellar Hypoplasia |
Associate
|
20829227 |
| Prostatic Neoplasms |
Associate
|
31412591 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
31658275, 34318630, 37165308 |
| Prostatitis |
Associate
|
21045157 |
| Ptosis Hereditary Congenital 2 |
Associate
|
34652576 |
| Sarcoma |
Associate
|
34294833 |
| Schizophrenia |
Associate
|
34667143 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
19468031, 35945754 |
| Stomach Neoplasms |
Associate
|
23364970, 24053422, 28056823 |
| Strabismus |
Associate
|
23378218, 34863918, 39643435 |
| Syndrome |
Associate
|
25559402 |
| Thymic epithelial tumor |
Associate
|
21289518 |
| Thyroid Cancer Papillary |
Associate
|
35277656 |
| Tooth Abnormalities |
Associate
|
20829227 |
| Torticollis |
Associate
|
26639658 |
| Tracheomalacia |
Associate
|
23378218 |
| Tuberculosis Multidrug Resistant |
Associate
|
27284014 |
| Urethral Neoplasms |
Associate
|
31662559 |
| Urinary Bladder Neoplasms |
Associate
|
29941343 |
| Uterine Cervical Neoplasms |
Associate
|
36973995 |
| Uveal melanoma |
Associate
|
18385798 |
| Vocal Cord Paralysis |
Associate
|
23378218 |
| Vomiting |
Associate
|
34652576 |
|