{ "url": "https://dantelabs.com/ko/genes/ufm1", "gene": { "slug": "ufm1", "symbol": "UFM1", "name": "ubiquitin fold modifier 1", "hgnc": "HGNC:20597", "summary": null, "location": "13q13.3", "locusType": "gene with protein product", "aliases": [ "bA131P10.1" ], "previousSymbols": [ "C13orf20" ], "ensemblId": "ENSG00000120686", "entrezId": 51569, "omim": [ "610553" ], "uniprot": [ "P61960" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "13", "start": 38349851, "end": 38363619, "strand": "+", "ensemblTranscript": "ENST00000239878.9", "refseqTranscript": "NM_016617.4", "ensemblProtein": "ENSP00000239878.4", "refseqProtein": "NP_057701.1", "exons": [ { "start": 38349851, "end": 38349921 }, { "start": 38349999, "end": 38350055 }, { "start": 38354239, "end": 38354296 }, { "start": 38358093, "end": 38358132 }, { "start": 38359301, "end": 38359333 }, { "start": 38360711, "end": 38363619 } ], "cds": { "start": 38349920, "end": 38360778 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "13", "start": 38923986, "end": 38937140, "strand": "+" }, "neighbourhood": { "release": "116", "start": 37856735, "end": 38856734, "genes": [ { "symbol": "TRPC4", "ensemblId": "ENSG00000133107", "biotype": "protein_coding", "start": 37632063, "end": 37870344, "strand": "-", "slug": "trpc4" }, { "symbol": "FREM2", "ensemblId": "ENSG00000150893", "biotype": "protein_coding", "start": 38687070, "end": 38887131, "strand": "+", "slug": "frem2" } ], "truncated": false }, "reports": [ { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "펠리차이어스-메르츠바허병 및 저수초성 백질이상증", "diseases": [ { "mondoId": "MONDO:0033486", "name": "저수초성 백질이상증 14형(UFM1)", "genes": 1, "inheritance": "autosomal-recessive", "description": "뇌의 수초가 정상적으로 형성되지 않아 발달 지연과 운동 문제를 일으키는 드문 유전성 저수초성 백질이상증입니다.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "기타 유전성 백질이상증", "diseases": [ { "mondoId": "MONDO:0019046", "name": "백질이상증(기타 및 상세 불명형)", "genes": 80, "inheritance": null, "description": "뇌와 척수의 백질인 수초(myelin)의 정상적인 형성을 손상시키거나 방해하는 유전성 질환입니다. 관련된 유전자에 따라 유형마다 상염색체 열성, 상염색체 우성 또는 X-연관 유전 양상을 보입니다.", "management": "구체적인 유전적 원인을 알면 진단 과정을 마무리할 수 있고, 지지 치료와 경과 관찰의 방향을 정하는 데 도움이 되며, 특정 치료법이 있는지 확인할 수 있고, 가족 구성원에 대한 검사도 가능해집니다.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/ko/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/ko/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/ko/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/ko/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/ko/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/clcn2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }