{ "url": "https://dantelabs.com/tr/genes/nudcd3", "gene": { "slug": "nudcd3", "symbol": "NUDCD3", "name": "NudC domain containing 3", "hgnc": "HGNC:22208", "summary": null, "location": "7p13", "locusType": "gene with protein product", "aliases": [ "KIAA1068", "NudCL" ], "previousSymbols": [], "ensemblId": "ENSG00000015676", "entrezId": 23386, "omim": [ "610296" ], "uniprot": [ "Q8IVD9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 44379119, "end": 44490658, "strand": "-", "ensemblTranscript": "ENST00000355451.8", "refseqTranscript": "NM_015332.4", "ensemblProtein": "ENSP00000347626.6", "refseqProtein": "NP_056147.2", "exons": [ { "start": 44379119, "end": 44386121 }, { "start": 44392297, "end": 44392485 }, { "start": 44404440, "end": 44404583 }, { "start": 44427571, "end": 44427703 }, { "start": 44484968, "end": 44485284 }, { "start": 44490409, "end": 44490658 } ], "cds": { "start": 44386011, "end": 44490600 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 44418720, "end": 44530479, "strand": "-" }, "neighbourhood": { "release": "116", "start": 43934889, "end": 44934888, "genes": [ { "symbol": "UBE2D4", "ensemblId": "ENSG00000078967", "biotype": "protein_coding", "start": 43925799, "end": 43956136, "strand": "+", "slug": "ube2d4" }, { "symbol": "SPDYE1", "ensemblId": "ENSG00000136206", "biotype": "protein_coding", "start": 43997897, "end": 44010124, "strand": "+", "slug": "spdye1" }, { "symbol": "DBNL", "ensemblId": "ENSG00000136279", "biotype": "protein_coding", "start": 44044628, "end": 44069456, "strand": "+", "slug": "dbnl" }, { "symbol": "PGAM2", "ensemblId": "ENSG00000164708", "biotype": "protein_coding", "start": 44062724, "end": 44065736, "strand": "-", "slug": "pgam2" }, { "symbol": "POLM", "ensemblId": "ENSG00000122678", "biotype": "protein_coding", "start": 44070915, "end": 44082985, "strand": "-", "slug": "polm" }, { "symbol": "AEBP1", "ensemblId": "ENSG00000106624", "biotype": "protein_coding", "start": 44104286, "end": 44114565, "strand": "+", "slug": "aebp1" }, { "symbol": "POLD2", "ensemblId": "ENSG00000106628", "biotype": "protein_coding", "start": 44114631, "end": 44124407, "strand": "-", "slug": "pold2" }, { "symbol": "MYL7", "ensemblId": "ENSG00000106631", "biotype": "protein_coding", "start": 44138857, "end": 44143179, "strand": "-", "slug": "myl7" }, { "symbol": "GCK", "ensemblId": "ENSG00000106633", "biotype": "protein_coding", "start": 44143213, "end": 44198170, "strand": "-", "slug": "gck" }, { "symbol": "YKT6", "ensemblId": "ENSG00000106636", "biotype": "protein_coding", "start": 44200959, "end": 44214294, "strand": "+", "slug": "ykt6" }, { "symbol": "CAMK2B", "ensemblId": "ENSG00000058404", "biotype": "protein_coding", "start": 44209993, "end": 44334577, "strand": "-", "slug": "camk2b" }, { "symbol": "NPC1L1", "ensemblId": "ENSG00000015520", "biotype": "protein_coding", "start": 44512442, "end": 44541330, "strand": "-", "slug": "npc1l1" }, { "symbol": "DDX56", "ensemblId": "ENSG00000136271", "biotype": "protein_coding", "start": 44565416, "end": 44575388, "strand": "-", "slug": "ddx56" }, { "symbol": "TMED4", "ensemblId": "ENSG00000158604", "biotype": "protein_coding", "start": 44576392, "end": 44582309, "strand": "-", "slug": "tmed4" }, { "symbol": "OGDH", "ensemblId": "ENSG00000105953", "biotype": "protein_coding", "start": 44606496, "end": 44710116, "strand": "+", "slug": "ogdh" }, { "symbol": "ZMIZ2", "ensemblId": "ENSG00000122515", "biotype": "protein_coding", "start": 44748548, "end": 44770112, "strand": "+", "slug": "zmiz2" }, { "symbol": "PPIA", "ensemblId": "ENSG00000196262", "biotype": "protein_coding", "start": 44796620, "end": 44824564, "strand": "+", "slug": "ppia" }, { "symbol": "H2AZ2", "ensemblId": "ENSG00000105968", "biotype": "protein_coding", "start": 44826791, "end": 44848146, "strand": "-", "slug": "h2az2" }, { "symbol": "PURB", "ensemblId": "ENSG00000146676", "biotype": "protein_coding", "start": 44876299, "end": 44885530, "strand": "-", "slug": "purb" } ], "truncated": false }, "reports": [ { "slug": "severe-combined-immunodeficiency", "name": "Ağır Kombine İmmün Yetmezlik", "diseases": [ { "mondoId": "MONDO:0015974", "name": "Ağır Kombine İmmün Yetmezlik", "genes": 31, "inheritance": "autosomal-recessive", "description": "Ağır kombine immün yetmezlik (SCID), fonksiyonel periferik T lenfositlerinin eksikliğiyle karakterize, erken başlangıçlı ağır solunum yolu enfeksiyonlarına ve gelişme geriliğine yol açan, nadir monogenik primer immün yetmezlik hastalıkları grubudur. İmmünolojik fenotipe göre, T hücrelerinin yokluğu ancak B hücrelerinin varlığıyla seyreden SCID (T-B+ SCID) veya her ikisinin de yokluğuyla seyreden SCID (T-B- SCID) olarak sınıflandırılır. Bu gruplardan her ikisi de doğal öldürücü (NK) hücrelerin varlığı veya yokluğuna bağlı olarak birkaç formu içerir.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/severe-combined-immunodeficiency" }, { "slug": "immunodeficiency-disease", "name": "Diğer Doğuştan İmmün Yetmezlikler", "diseases": [ { "mondoId": "MONDO:0021094", "name": "İmmün Yetmezlik Hastalığı", "genes": 170, "inheritance": null, "description": "Hücresel veya humoral bağışıklık mekanizmalarında eksiklik ya da bozukluk bulunan hastalık.", "management": "Ağır kombine immün yetmezlik (SCID) ve ağır primer immün yetmezlikler için HSCT; antikor eksikliklerinde immünoglobulin replasmanı (IVIG/SCIG); APDS için lenyolisib (Joenja, FDA 2023); ADA-SCID için gen tedavisi; CTLA4/LRBA eksikliği için abatasept; profilaktik antibiyotikler; KGH için G-CSF", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-lymphocyte-morphology", "name": "Abnormal lymphocyte morphology", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-lymphocyte-morphology" }, { "slug": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "slug": "autoimmunity", "name": "Autoimmunity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autoimmunity" }, { "slug": "lymphoma", "name": "Cancer of lymphatic system", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphoma" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "desquamation-of-skin-soon-after-birth", "name": "Desquamation of skin soon after birth", "systems": [ "abnormality-of-prenatal-development-or-birth", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/desquamation-of-skin-soon-after-birth" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "increased-total-leukocyte-count", "name": "Elevated white blood count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-leukocyte-count" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "increased-total-eosinophil-count", "name": "High blood eosinophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-eosinophil-count" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "nephrotic-syndrome", "name": "Nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephrotic-syndrome" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "erythroderma", "name": "Red scaly skin caused by inflammatory skin disease", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythroderma" }, { "slug": "severe-combined-immunodeficiency", "name": "Severe combined immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-combined-immunodeficiency" }, { "slug": "short-toe", "name": "Short toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-toe" }, { "slug": "aplasia-hypoplasia-of-the-eyebrow", "name": "Sparse or absent eyebrows", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "thickened-skin", "name": "Thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thickened-skin" }, { "slug": "thyroiditis", "name": "Thyroid gland inflammation", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thyroiditis" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 2, "url": "https://dantelabs.com/tr/genes/ada" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/ak2" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/tr/genes/bcl11b" }, { "slug": "card11", "symbol": "CARD11", "name": "caspase recruitment domain family member 11", "shared": 2, "url": "https://dantelabs.com/tr/genes/card11" }, { "slug": "carmil2", "symbol": "CARMIL2", "name": "capping protein regulator and myosin 1 linker 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/carmil2" }, { "slug": "cd247", "symbol": "CD247", "name": "CD247 molecule", "shared": 2, "url": "https://dantelabs.com/tr/genes/cd247" }, { "slug": "cd3d", "symbol": "CD3D", "name": "CD3 delta subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/tr/genes/cd3d" }, { "slug": "cd3e", "symbol": "CD3E", "name": "CD3 epsilon subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/tr/genes/cd3e" }, { "slug": "cd70", "symbol": "CD70", "name": "CD70 molecule", "shared": 2, "url": "https://dantelabs.com/tr/genes/cd70" }, { "slug": "ciita", "symbol": "CIITA", "name": "class II major histocompatibility complex transactivator", "shared": 2, "url": "https://dantelabs.com/tr/genes/ciita" }, { "slug": "coro1a", "symbol": "CORO1A", "name": "coronin 1A", "shared": 2, "url": "https://dantelabs.com/tr/genes/coro1a" }, { "slug": "dclre1c", "symbol": "DCLRE1C", "name": "DNA cross-link repair 1C", "shared": 2, "url": "https://dantelabs.com/tr/genes/dclre1c" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }