190611
|
|
|
- |
- |
Curated: N/A
Unreviewed: N/A
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190612
|
|
|
- |
- |
Curated: N/A
Unreviewed: Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Neoplasms, Thyroid Neoplasm
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190613
|
|
|
TRNA splicing endonuclease subunit 15 |
C1orf19, PCH2F, sen15 |
Curated: Color vision deficiency, Congenital microcephaly, Global developmental delay, Open angle glaucoma, Osteoarthritis, Pontocerebellar hypoplasia, Prostate cancer, Scoliosis, Diabetes mellitus type 2
Unreviewed: Atrial fibrillation, Developmental Delay, Developmental disability, Epilepsy, Growth disorder, Intellectual developmental disorder, Mental retardation, Microcephaly, Pontoneocerebellar hypoplasia
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190614
|
|
|
TRNA splicing endonuclease subunit 15 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
190615
|
|
|
TRNA splicing endonuclease subunit 15 pseudogene 2 |
- |
Curated: N/A
Unreviewed: N/A
|
190616
|
|
|
TRNA splicing endonuclease subunit 15 pseudogene 3 |
- |
Curated: N/A
Unreviewed: N/A
|
190617
|
|
|
TRNA splicing endonuclease subunit 2 |
PCH2B, SEN2, SEN2L |
Curated: Alzheimer disease, Coronary artery disease, Deglutition disorder, Hemolytic uremic syndrome, Hypertrophic cardiomyopathy, Osteonecrosis of the femoral head, Intellectual developmental disorder, Metabolic syndrome, Microcephaly, Movement disorder, Nonalcoholic fatty liver disease, Periodontal disease, Periodontitis, Pontocerebellar hypoplasia, Systemic lupus erythematosus, Diabetes mellitus type 1, Diabetes mellitus type 2, Visual disorder
Unreviewed: Cerebellar atrophy, Cerebellar Hypoplasia, Congenital Microcephaly, Diabetes Mellitus, Diabetes mellitus, type 2, Dysphagia, Esophageal Dysphagia, Extrapyramidal dyskinesia, Hemeralopia, Hypoplasia Of Corpus Callosum, Mental retardation, Microlissencephaly, Movement Disorders, Oropharyngeal Dysphagia, Pontoneocerebellar hypoplasia, Status marmoratus, Vision Disability
|
190618
|
|
|
TRNA splicing endonuclease subunit 2 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
190619
|
|
|
TRNA splicing endonuclease subunit 34 |
LENG5, PCH2C, SEN34, SEN34L |
Curated: Deglutition disorder, Intellectual developmental disorder, Microcephaly, Movement disorder, Obesity, Pontocerebellar hypoplasia, Visual disorder
Unreviewed: Congenital Microcephaly, Dysphagia, Esophageal Dysphagia, Hemeralopia, Mental retardation, Microlissencephaly, Movement Disorders, Oropharyngeal Dysphagia, Pontoneocerebellar hypoplasia, Status marmoratus, Vision Disability
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190620
|
|
|
TRNA splicing endonuclease subunit 54 |
PCH2A, PCH4, PCH5, SEN54L, sen54 |
Curated: Amblyopia, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Obstructive pulmonary disease, Congenital neurologic anomalies, Deglutition disorder, Global developmental delay, Intellectual developmental disorder, Methylmalonic acidemia, Microcephaly, Movement disorder, Pontocerebellar hypoplasia, Visual disorder
Unreviewed: Amyloidosis, Arthrogryposis multiplex congenita, Ataxia, Atrophy, Cerebellar Hypoplasia, Chronic obstructive pulmonary disease, Congenital contracture, Congenital heart defect, Congenital Microcephaly, Developmental Delay, Dyskinetic Syndrome, Dysphagia, Dystonia, Esophageal Dysphagia, Extrapyramidal dyskinesia, Glioma, Hearing loss, Hemeralopia, Hepatocellular carcinoma, Leukodystrophy, Mental retardation, Micrognathism, Microlissencephaly, Movement Disorders, Neoplasms, Olivopontocerebellar hypoplasia, fetal-onset, Oropharyngeal Dysphagia, Pontoneocerebellar hypoplasia, Respiratory Failure, Seizures, Sleep Apnea, Status marmoratus, Stomach neoplasms, Vision Disability
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