{ "url": "https://dantelabs.com/et/genes/arhgef9", "gene": { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "hgnc": "HGNC:14561", "summary": null, "location": "Xq11.1", "locusType": "gene with protein product", "aliases": [ "KIAA0424", "PEM-2" ], "previousSymbols": [], "ensemblId": "ENSG00000131089", "entrezId": 23229, "omim": [ "300429" ], "uniprot": [ "O43307" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 63634967, "end": 63785214, "strand": "-", "ensemblTranscript": "ENST00000671741.2", "refseqTranscript": "NM_001353921.2", "ensemblProtein": "ENSP00000500715.1", "refseqProtein": "NP_001340850.1", "exons": [ { "start": 63634967, "end": 63638209 }, { "start": 63643980, "end": 63644048 }, { "start": 63655494, "end": 63655737 }, { "start": 63665886, "end": 63666017 }, { "start": 63674038, "end": 63674167 }, { "start": 63678340, "end": 63678572 }, { "start": 63697125, "end": 63697304 }, { "start": 63706258, "end": 63706449 }, { "start": 63724532, "end": 63724711 }, { "start": 63785116, "end": 63785214 } ], "cds": { "start": 63638028, "end": 63785145 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 62854847, "end": 63005426, "strand": "-" }, "neighbourhood": { "release": "116", "start": 63210091, "end": 64210090, "genes": [ { "symbol": "SPIN4", "ensemblId": "ENSG00000186767", "biotype": "protein_coding", "start": 63347228, "end": 63351332, "strand": "-", "slug": "spin4" }, { "symbol": "", "ensemblId": "ENSG00000288661", "biotype": "protein_coding", "start": 63754485, "end": 63754664, "strand": "-" }, { "symbol": "AMER1", "ensemblId": "ENSG00000184675", "biotype": "protein_coding", "start": 64185117, "end": 64205708, "strand": "-", "slug": "amer1" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsia (täielik paneel)", "diseases": [ { "mondoId": "MONDO:0100148", "name": "X-seotud kompleksne neurodevelopmentaalne häire", "genes": 25, "inheritance": null, "description": "Kompleksne neurodevelopmentaalne häire, mis pärandub X-seotult ning mida iseloomustavad intellektipuue, autism ja epilepsia.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0005027", "name": "Epilepsia", "genes": 171, "inheritance": null, "description": "Ajuhaigus, mida iseloomustavad ebanormaalselt suurenenud neuronite aktiivsuse episoodid, mis põhjustavad ajutisi sensoorse või motoorse neuroloogilise talitlushäire või psüühilise talitlushäire episoode. Need episoodid võivad olla seotud teadvuse kaotuse või krampidega, aga ei pruugi.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/et/conditions/epilepsy-report" }, { "slug": "intellectual-disability", "name": "Intellektipuue", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intellektipuue", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/et/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "eeg-with-temporal-focal-spikes", "name": "EEG with temporal focal spikes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-with-temporal-focal-spikes" }, { "slug": "epileptic-encephalopathy", "name": "Epileptic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "exaggerated-startle-response", "name": "Exaggerated startle response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exaggerated-startle-response" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "frontal-polymicrogyria", "name": "Frontal polymicrogyria", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frontal-polymicrogyria" }, { "slug": "overgrowth", "name": "General overgrowth", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/overgrowth" }, { "slug": "generalized-tonic-seizure", "name": "Generalized tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-tonic-seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tonic-seizure" }, { "slug": "trigonocephaly", "name": "Triangular head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/trigonocephaly" }, { "slug": "hypoplasia-of-the-frontal-lobes", "name": "Underdeveloped frontal lobe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes" } ], "related": [ { "slug": "pcdh19", "symbol": "PCDH19", "name": "protocadherin 19", "shared": 3, "url": "https://dantelabs.com/et/genes/pcdh19" }, { "slug": "syn1", "symbol": "SYN1", "name": "synapsin I", "shared": 3, "url": "https://dantelabs.com/et/genes/syn1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 2, "url": "https://dantelabs.com/et/genes/arx" }, { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 2, "url": "https://dantelabs.com/et/genes/atp6ap2" }, { "slug": "clcn4", "symbol": "CLCN4", "name": "Cl-/H+ antiporter 4", "shared": 2, "url": "https://dantelabs.com/et/genes/clcn4" }, { "slug": "cnksr2", "symbol": "CNKSR2", "name": "connector enhancer of kinase suppressor of Ras 2", "shared": 2, "url": "https://dantelabs.com/et/genes/cnksr2" }, { "slug": "fgf13", "symbol": "FGF13", "name": "fibroblast growth factor 13", "shared": 2, "url": "https://dantelabs.com/et/genes/fgf13" }, { "slug": "frmpd4", "symbol": "FRMPD4", "name": "FERM and PDZ domain containing 4", "shared": 2, "url": "https://dantelabs.com/et/genes/frmpd4" }, { "slug": "ftsj1", "symbol": "FTSJ1", "name": "FtsJ RNA 2'-O-methyltransferase 1", "shared": 2, "url": "https://dantelabs.com/et/genes/ftsj1" }, { "slug": "gria3", "symbol": "GRIA3", "name": "glutamate ionotropic receptor AMPA type subunit 3", "shared": 2, "url": "https://dantelabs.com/et/genes/gria3" }, { "slug": "grin1", "symbol": "GRIN1", "name": "glutamate ionotropic receptor NMDA type subunit 1", "shared": 2, "url": "https://dantelabs.com/et/genes/grin1" }, { "slug": "grin2b", "symbol": "GRIN2B", "name": "glutamate ionotropic receptor NMDA type subunit 2B", "shared": 2, "url": "https://dantelabs.com/et/genes/grin2b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }