Disease on EC 3.4.22.B25 - calpain 5
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Blindness
Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.
Cardiovascular Diseases
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels.
Deaf-Blind Disorders
Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case.
Diabetes Mellitus
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Diabetes Mellitus, Type 2
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Eye Diseases
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Eye Diseases
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Eye Diseases
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Glaucoma
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
Hearing Loss
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Hearing Loss
Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case.
Hepatitis C
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
Hypertension
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Leukemia
Calpain 5 is highly expressed in the central nervous system (CNS), carries dual nuclear localization signals, and is associated with nuclear promyelocytic leukemia protein bodies.
Lymphoma
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
Meningioma
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
Metabolic Syndrome
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels.
Neoplasms
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
Neuroblastoma
The C2 domain of calpain 5 contributes to enzyme activation and membrane localization.
Neuroinflammatory Diseases
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.
Obesity
Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity.
Obesity
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Polycystic Ovary Syndrome
Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.
Retinal Degeneration
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Retinal Degeneration
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Retinal Detachment
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Retinal Diseases
Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.
Retinal Diseases
Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.
Retinal Neovascularization
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Thyroid Cancer, Papillary
Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma.
Uveitis
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
Uveitis
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
Uveitis
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.
Uveitis
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
Uveitis
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.
Vesicular Stomatitis
Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB.
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