All Gene


Gene Function Phenotype Phenotype Nature Classification Inheritance Incidence Depend. Nature Depend. Quantity Depend. Stage Homozy. KO Heterozy. KO Patho. Score Patho. Funotype
MMP2 Enzyme Multicentric osteolysis, nodulosis, and arthropathy Osteoarthropathies AR - Obligatory Abnormal -
PLCE1 Enzyme Nephrotic syndrome, type 3 Genitourinary system diseases AR Idiopathic NS: Incidence 13 per 100,000 children per year. Obligatory Abnormal Abnormal
PLCE1 Enzyme Susceptibility to esophageal squamous cell carcinoma and gastric cardia adenocarcinoma Malignant neoplasms Possible association - Obligatory Abnormal Abnormal
MLC1 Unclassified/Unidentified protein Megalencephalic leukoencephalopathy with subcortical cysts Genetic disease Development disorders and malformations; Neurodegenerative diseases; Epilepsy; Mental retardation; Neuro-psychological development disorders AR - Obligatory <50% (Middle-low) Predominantly fetus and postnatal stage Abnormal - MLC 9/10 MLC: LOF
VPS33A - - - - - Obligatory Abnormal -