{ "url": "https://dantelabs.com/et/genes/fzd5", "gene": { "slug": "fzd5", "symbol": "FZD5", "name": "frizzled class receptor 5", "hgnc": "HGNC:4043", "summary": null, "location": "2q33.3", "locusType": "gene with protein product", "aliases": [ "HFZ5", "DKFZP434E2135" ], "previousSymbols": [ "C2orf31" ], "ensemblId": "ENSG00000163251", "entrezId": 7855, "omim": [ "601723" ], "uniprot": [ "Q13467" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 207762598, "end": 207769906, "strand": "-", "ensemblTranscript": "ENST00000295417.4", "refseqTranscript": "NM_003468.4", "ensemblProtein": "ENSP00000354607.3", "refseqProtein": "NP_003459.2", "exons": [ { "start": 207762598, "end": 207768994 }, { "start": 207769265, "end": 207769906 } ], "cds": { "start": 207766982, "end": 207768739 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 208627310, "end": 208634287, "strand": "-" }, "neighbourhood": { "release": "116", "start": 207266252, "end": 208266251, "genes": [ { "symbol": "CREB1", "ensemblId": "ENSG00000118260", "biotype": "protein_coding", "start": 207529697, "end": 207605988, "strand": "+", "slug": "creb1" }, { "symbol": "METTL21A", "ensemblId": "ENSG00000144401", "biotype": "protein_coding", "start": 207579518, "end": 207626297, "strand": "-", "slug": "mettl21a" }, { "symbol": "CCNYL1", "ensemblId": "ENSG00000163249", "biotype": "protein_coding", "start": 207711515, "end": 207761839, "strand": "+", "slug": "ccnyl1" }, { "symbol": "PLEKHM3", "ensemblId": "ENSG00000178385", "biotype": "protein_coding", "start": 207821288, "end": 208025846, "strand": "-", "slug": "plekhm3" }, { "symbol": "CRYGD", "ensemblId": "ENSG00000118231", "biotype": "protein_coding", "start": 208121607, "end": 208124595, "strand": "-", "slug": "crygd" }, { "symbol": "CRYGC", "ensemblId": "ENSG00000163254", "biotype": "protein_coding", "start": 208128137, "end": 208129828, "strand": "-", "slug": "crygc" }, { "symbol": "CRYGB", "ensemblId": "ENSG00000182187", "biotype": "protein_coding", "start": 208142573, "end": 208146163, "strand": "-", "slug": "crygb" }, { "symbol": "CRYGA", "ensemblId": "ENSG00000168582", "biotype": "protein_coding", "start": 208160740, "end": 208163589, "strand": "-", "slug": "cryga" }, { "symbol": "C2orf80", "ensemblId": "ENSG00000188674", "biotype": "protein_coding", "start": 208165343, "end": 208190245, "strand": "-", "slug": "c2orf80" }, { "symbol": "IDH1", "ensemblId": "ENSG00000138413", "biotype": "protein_coding", "start": 208236224, "end": 208266095, "strand": "-", "slug": "idh1" }, { "symbol": "PIKFYVE", "ensemblId": "ENSG00000115020", "biotype": "protein_coding", "start": 208266229, "end": 208358755, "strand": "+", "slug": "pikfyve" } ], "truncated": false }, "reports": [ { "slug": "microphthalmia-anophthalmia-coloboma", "name": "Mikroftalmia, anoftalmia ja kolobooma", "diseases": [ { "mondoId": "MONDO:0016764", "name": "Isoleeritud anoftalmia, mikroftalmia ja kolobooma", "genes": 9, "inheritance": null, "description": "Silmamalformatsioonid ilma muude tunnusteta, sealhulgas nanoftalmos, mida põhjustavad muutused geenides nagu VSX2, RAX, MFRP, PRSS56 ja teised.", "management": "Nanoftalmosega inimestel (sageli MFRP või PRSS56) on suurenenud risk nurga sulgumise glaukoomi tekkeks ning nad vajavad regulaarset silmaarsti kontrolli; geneetiline diagnoos aitab hinnata ka kordumise riski.", "evidence": { "gencc": [ "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/microphthalmia-anophthalmia-coloboma" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "chorioretinal-coloboma", "name": "Birth defect that causes a hole in the innermost layer at the back of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chorioretinal-coloboma" }, { "slug": "iris-coloboma", "name": "Cat eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/iris-coloboma" }, { "slug": "cortical-cataract", "name": "Cortical cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cortical-cataract" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "retinal-coloboma", "name": "Hole in the back of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-coloboma" }, { "slug": "hypoplasia-of-the-fovea", "name": "Hypoplasia of the fovea", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "optic-disc-coloboma", "name": "Optic disc coloboma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-coloboma" }, { "slug": "optic-disc-hypoplasia", "name": "Optic disc hypoplasia", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-hypoplasia" }, { "slug": "retinal-detachment", "name": "Retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-detachment" }, { "slug": "high-hypermetropia", "name": "Severe farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-hypermetropia" }, { "slug": "high-myopia", "name": "Severe near sightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-myopia" } ], "related": [ { "slug": "aldh1a3", "symbol": "ALDH1A3", "name": "aldehyde dehydrogenase 1 family member A3", "shared": 1, "url": "https://dantelabs.com/et/genes/aldh1a3" }, { "slug": "mfrp", "symbol": "MFRP", "name": "membrane frizzled-related protein", "shared": 1, "url": "https://dantelabs.com/et/genes/mfrp" }, { "slug": "prss56", "symbol": "PRSS56", "name": "serine protease 56", "shared": 1, "url": "https://dantelabs.com/et/genes/prss56" }, { "slug": "rax", "symbol": "RAX", "name": "retina and anterior neural fold homeobox", "shared": 1, "url": "https://dantelabs.com/et/genes/rax" }, { "slug": "rbp4", "symbol": "RBP4", "name": "retinol binding protein 4", "shared": 1, "url": "https://dantelabs.com/et/genes/rbp4" }, { "slug": "shh", "symbol": "SHH", "name": "sonic hedgehog signaling molecule", "shared": 1, "url": "https://dantelabs.com/et/genes/shh" }, { "slug": "tmem98", "symbol": "TMEM98", "name": "transmembrane protein 98", "shared": 1, "url": "https://dantelabs.com/et/genes/tmem98" }, { "slug": "vsx2", "symbol": "VSX2", "name": "visual system homeobox 2", "shared": 1, "url": "https://dantelabs.com/et/genes/vsx2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }