{ "url": "https://dantelabs.com/tr/genes/gipc1", "gene": { "slug": "gipc1", "symbol": "GIPC1", "name": "GIPC PDZ domain containing family member 1", "hgnc": "HGNC:1226", "summary": null, "location": "19p13.12", "locusType": "gene with protein product", "aliases": [ "TIP-2", "Hs.6454", "GIPC", "SEMCAP", "GLUT1CBP", "SYNECTIN", "NIP" ], "previousSymbols": [ "C19orf3", "RGS19IP1" ], "ensemblId": "ENSG00000123159", "entrezId": 10755, "omim": [ "605072" ], "uniprot": [ "O14908" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 14477762, "end": 14496127, "strand": "-", "ensemblTranscript": "ENST00000393033.9", "refseqTranscript": "NM_005716.4", "ensemblProtein": "ENSP00000376753.3", "refseqProtein": "NP_005707.1", "exons": [ { "start": 14477762, "end": 14478567 }, { "start": 14478684, "end": 14478765 }, { "start": 14479412, "end": 14479524 }, { "start": 14480305, "end": 14480485 }, { "start": 14480593, "end": 14480778 }, { "start": 14482689, "end": 14483006 }, { 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14147743, "end": 14206852, "strand": "-", "slug": "adgrl1" }, { "symbol": "ADGRE5", "ensemblId": "ENSG00000123146", "biotype": "protein_coding", "start": 14380501, "end": 14408729, "strand": "+", "slug": "adgre5" }, { "symbol": "DDX39A", "ensemblId": "ENSG00000123136", "biotype": "protein_coding", "start": 14408798, "end": 14419385, "strand": "-", "slug": "ddx39a" }, { "symbol": "PKN1", "ensemblId": "ENSG00000123143", "biotype": "protein_coding", "start": 14433053, "end": 14471872, "strand": "+", "slug": "pkn1" }, { "symbol": "PTGER1", "ensemblId": "ENSG00000160951", "biotype": "protein_coding", "start": 14472466, "end": 14477272, "strand": "-", "slug": "ptger1" }, { "symbol": "DNAJB1", "ensemblId": "ENSG00000132002", "biotype": "protein_coding", "start": 14513789, "end": 14560391, "strand": "-", "slug": "dnajb1" }, { "symbol": "TECR", "ensemblId": "ENSG00000099797", "biotype": "protein_coding", "start": 14517085, "end": 14565988, "strand": "+", "slug": "tecr" }, { "symbol": "NDUFB7", "ensemblId": "ENSG00000099795", "biotype": "protein_coding", "start": 14566078, "end": 14572079, "strand": "-", "slug": "ndufb7" }, { "symbol": "CLEC17A", "ensemblId": "ENSG00000187912", "biotype": "protein_coding", "start": 14583084, "end": 14612035, "strand": "+", "slug": "clec17a" }, { "symbol": "ADGRE3", "ensemblId": "ENSG00000131355", "biotype": "protein_coding", "start": 14599080, "end": 14690027, "strand": "-", "slug": "adgre3" }, { "symbol": "ZNF333", "ensemblId": "ENSG00000160961", "biotype": "protein_coding", "start": 14689801, "end": 14733746, "strand": "+", "slug": "znf333" }, { "symbol": "ADGRE2", "ensemblId": "ENSG00000127507", "biotype": "protein_coding", "start": 14731152, "end": 14778560, "strand": "-", "slug": "adgre2" }, { "symbol": "OR7C1", "ensemblId": "ENSG00000127530", "biotype": "protein_coding", "start": 14789260, "end": 14835376, "strand": "-", "slug": "or7c1" }, { "symbol": "OR7A5", "ensemblId": "ENSG00000188269", "biotype": "protein_coding", "start": 14826241, "end": 14835285, "strand": "-", "slug": "or7a5" }, { "symbol": "OR7A10", "ensemblId": "ENSG00000127515", "biotype": "protein_coding", "start": 14840466, "end": 14848922, "strand": "-", "slug": "or7a10" }, { "symbol": "OR7A17", "ensemblId": "ENSG00000185385", "biotype": "protein_coding", "start": 14878203, "end": 14886132, "strand": "-", "slug": "or7a17" }, { "symbol": "OR7C2", "ensemblId": "ENSG00000127529", "biotype": "protein_coding", "start": 14941489, "end": 14942448, "strand": "+", "slug": "or7c2" }, { "symbol": "SLC1A6", "ensemblId": "ENSG00000105143", "biotype": "protein_coding", "start": 14950024, "end": 15022990, "strand": "-", "slug": "slc1a6" } ], "truncated": false }, "reports": [ { "slug": "distal-myopathies", "name": "Distal Miyopatiler", "diseases": [ { "mondoId": "MONDO:0018949", "name": "Distal miyopati", "genes": 16, "inheritance": null, "description": "Zayıflığın el, ön kol, alt bacak veya ayaklarda başladığı, TTN, DYSF, FLNC, MYH7, ADSS1, SMPX ve MATR3 gibi genlerden kaynaklanan, kalıtsal kas hastalıkları grubudur.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/distal-myopathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-morphology-of-musculature-of-pharynx", "name": "Abnormal morphology of musculature of pharynx", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-morphology-of-musculature-of-pharynx" }, { "slug": "abnormality-of-facial-musculature", "name": "Abnormality of facial muscles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-facial-musculature" }, { "slug": "abnormality-of-masseter-muscle", "name": "Abnormality of masseter muscle", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-masseter-muscle" }, { "slug": "abnormality-of-orbicularis-oris-muscle", "name": "Abnormality of orbicularis oris muscle", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-orbicularis-oris-muscle" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "bowing-of-the-vocal-cords", "name": "Bowing of the vocal cords", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bowing-of-the-vocal-cords" }, { "slug": "nasal-dysarthria", "name": "Breathy speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nasal-dysarthria" }, { "slug": "bulbar-palsy", "name": "Bulbar palsy", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bulbar-palsy" }, { "slug": "respiratory-insufficiency-due-to-muscle-weakness", "name": "Decreased lung function due to weak breathing muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "distal-lower-limb-amyotrophy", "name": "Distal lower limb amyotrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy" }, { "slug": "distal-lower-limb-muscle-weakness", "name": "Distal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness" }, { "slug": "distal-upper-limb-amyotrophy", "name": "Distal upper limb amyotrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy" }, { "slug": "distal-upper-limb-muscle-weakness", "name": "Distal upper limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "fatigable-weakness-of-bulbar-muscles", "name": "Fatigable weakness of bulbar muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fatigable-weakness-of-bulbar-muscles" }, { "slug": "fatty-replacement-of-skeletal-muscle", "name": "Fatty replacement of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "high-narrow-palate", "name": "High, narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-narrow-palate" }, { "slug": "impaired-oropharyngeal-swallow-response", "name": "Impaired oropharyngeal swallow response", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-oropharyngeal-swallow-response" }, { "slug": "increased-endomysial-connective-tissue", "name": "Increased endomysial connective tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "paraplegia", "name": "Leg paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/paraplegia" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "myopathic-facies", "name": "Myopathic facies", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopathic-facies" }, { "slug": "oral-pharyngeal-dysphagia", "name": "Oral-pharyngeal dysphagia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oral-pharyngeal-dysphagia" }, { "slug": "external-ophthalmoplegia", "name": "Paralysis or weakness of muscles within or surrounding outer part of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/external-ophthalmoplegia" }, { "slug": "progressive-distal-muscle-weakness", "name": "Progressive distal muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-distal-muscle-weakness" }, { "slug": "progressive-ptosis", "name": "Progressive drooping of upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-ptosis" }, { "slug": "progressive-external-ophthalmoplegia", "name": "Progressive external ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia" }, { "slug": "progressive-proximal-muscle-weakness", "name": "Progressive proximal muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-proximal-muscle-weakness" }, { "slug": "progressive-sensorineural-hearing-impairment", "name": "Progressive sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment" }, { "slug": "proximal-upper-limb-muscle-weakness", "name": "Proximal upper limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness" }, { "slug": "recurrent-aspiration-pneumonia", "name": "Recurrent aspiration pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-aspiration-pneumonia" }, { "slug": "rimmed-vacuoles", "name": "Rimmed vacuoles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rimmed-vacuoles" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "tibialis-muscle-weakness", "name": "Tibialis muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tibialis-muscle-weakness" }, { "slug": "tongue-muscle-weakness", "name": "Tongue muscle weakness", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tongue-muscle-weakness" }, { "slug": "weakness-of-facial-musculature", "name": "Weakness of facial musculature", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/weakness-of-facial-musculature" }, { "slug": "ophthalmoparesis", "name": "Weakness of muscles controlling eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ophthalmoparesis" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-muscle-weakness" }, { "slug": "vocal-cord-paresis", "name": "Weakness of the vocal cords", "systems": [ "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vocal-cord-paresis" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "adss1", "symbol": "ADSS1", "name": "adenylosuccinate synthase 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/adss1" }, { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/tr/genes/ano5" }, { "slug": "cryab", "symbol": "CRYAB", "name": "crystallin alpha B", "shared": 1, "url": "https://dantelabs.com/tr/genes/cryab" }, { "slug": "dnajb4", "symbol": "DNAJB4", "name": "DnaJ heat shock protein family (Hsp40) member B4", "shared": 1, "url": "https://dantelabs.com/tr/genes/dnajb4" }, { "slug": "dysf", "symbol": "DYSF", "name": "dysferlin", "shared": 1, "url": "https://dantelabs.com/tr/genes/dysf" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 1, "url": "https://dantelabs.com/tr/genes/flnc" }, { "slug": "gne", "symbol": "GNE", "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase", "shared": 1, "url": "https://dantelabs.com/tr/genes/gne" }, { "slug": "ldb3", "symbol": "LDB3", "name": "LIM domain binding 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/ldb3" }, { "slug": "lrp12", "symbol": "LRP12", "name": "LDL receptor related protein 12", "shared": 1, "url": "https://dantelabs.com/tr/genes/lrp12" }, { "slug": "matr3", "symbol": "MATR3", "name": "matrin 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/matr3" }, { "slug": "myh7", "symbol": "MYH7", "name": "myosin heavy chain 7", "shared": 1, "url": "https://dantelabs.com/tr/genes/myh7" }, { "slug": "myot", "symbol": "MYOT", "name": "myotilin", "shared": 1, "url": "https://dantelabs.com/tr/genes/myot" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }