Nov 10, 2025 · The knowledgebase automatically integrates gene-centric data from ~200 web sources, including genomic, transcriptomic, proteomic, genetic, clinical and functional information.

Nov 14, 2025 · This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder.

Nov 14, 2025 · LRRK2 (Leucine Rich Repeat Kinase 2) is a Protein Coding gene. Diseases associated with LRRK2 include Parkinson Disease 8, Autosomal Dominant and Parkinson's Disease.

Nov 14, 2025 · This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption …

Nov 13, 2025 · The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master …

Nov 13, 2025 · This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug …

Nov 14, 2025 · The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.

Nov 13, 2025 · This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics …

Nov 13, 2025 · A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants …

Nov 13, 2025 · This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, …