{ "url": "https://dantelabs.com/el/genes/lrp5", "gene": { "slug": "lrp5", "symbol": "LRP5", "name": "LDL receptor related protein 5", "hgnc": "HGNC:6697", "summary": null, "location": "11q13.2", "locusType": "gene with protein product", "aliases": [ "LR3", "BMND1", "HBM", "OPS", "OPTA1", "VBCH2", "EVR4" ], "previousSymbols": [ "LRP7", "OPPG", "EVR1" ], "ensemblId": "ENSG00000162337", "entrezId": 4041, "omim": [ "603506" ], "uniprot": [ "O75197" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 68312591, "end": 68449275, "strand": "+", "ensemblTranscript": "ENST00000294304.12", "refseqTranscript": "NM_002335.4", "ensemblProtein": "ENSP00000294304.6", "refseqProtein": "NP_002326.2", "exons": [ { "start": 68312591, "end": 68312805 }, { "start": 68347847, "end": 68348243 }, { "start": 68357650, "end": 68357847 }, { "start": 68363747, "end": 68363943 }, { "start": 68365571, "end": 68365702 }, { "start": 68386316, "end": 68386712 }, { "start": 68389881, "end": 68390052 }, { "start": 68403483, "end": 68403699 }, { "start": 68406524, "end": 68406813 }, { "start": 68409914, "end": 68410140 }, { "start": 68411436, "end": 68411620 }, { "start": 68413689, "end": 68414012 }, { "start": 68416328, "end": 68416527 }, { "start": 68423489, "end": 68423697 }, { "start": 68425102, "end": 68425292 }, { "start": 68425978, "end": 68426187 }, { "start": 68429575, "end": 68429700 }, { "start": 68433602, "end": 68433838 }, { "start": 68436889, "end": 68436999 }, { "start": 68438446, "end": 68438682 }, { "start": 68439777, "end": 68439916 }, { "start": 68446436, "end": 68446533 }, { "start": 68448809, "end": 68449275 } ], "cds": { "start": 68312715, "end": 68449070 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 68080077, "end": 68216743, "strand": "+" }, "neighbourhood": { "release": "116", "start": 67880933, "end": 68880932, "genes": [ { "symbol": "UNC93B1", "ensemblId": "ENSG00000110057", "biotype": "protein_coding", "start": 67991100, "end": 68004982, "strand": "-", "slug": "unc93b1" }, { "symbol": "ALDH3B1", "ensemblId": "ENSG00000006534", "biotype": "protein_coding", "start": 68008543, "end": 68029282, "strand": "+", "slug": "aldh3b1" }, { "symbol": "NDUFS8", "ensemblId": "ENSG00000110717", "biotype": "protein_coding", "start": 68030617, "end": 68036649, "strand": "+", "slug": "ndufs8" }, { "symbol": "TCIRG1", "ensemblId": "ENSG00000110719", "biotype": "protein_coding", "start": 68038977, "end": 68050899, "strand": "+", "slug": "tcirg1" }, { "symbol": "CHKA", "ensemblId": "ENSG00000110721", "biotype": "protein_coding", "start": 68052848, "end": 68121449, "strand": "-", "slug": "chka" }, { "symbol": "KMT5B", "ensemblId": "ENSG00000110066", "biotype": "protein_coding", "start": 68154863, "end": 68214134, "strand": "-", "slug": "kmt5b" }, { "symbol": "C11orf24", "ensemblId": "ENSG00000171067", "biotype": "protein_coding", "start": 68261335, "end": 68272001, "strand": "-", "slug": "c11orf24" }, { "symbol": "PPP6R3", "ensemblId": "ENSG00000110075", "biotype": "protein_coding", "start": 68460475, "end": 68615343, "strand": "+", "slug": "ppp6r3" }, { "symbol": "GAL", "ensemblId": "ENSG00000069482", "biotype": "protein_coding", "start": 68683020, "end": 68691205, "strand": "+", "slug": "gal" }, { "symbol": "TESMIN", "ensemblId": "ENSG00000132749", "biotype": "protein_coding", "start": 68705313, "end": 68751569, "strand": "-", "slug": "tesmin" }, { "symbol": "CPT1A", "ensemblId": "ENSG00000110090", "biotype": "protein_coding", "start": 68754620, "end": 68844410, "strand": "-", "slug": "cpt1a" }, { "symbol": "MRPL21", "ensemblId": "ENSG00000197345", "biotype": "protein_coding", "start": 68862382, "end": 68903841, "strand": "-", "slug": "mrpl21" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Οστεογένεση Ατελής", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Οστεογένεση Ατελής", "genes": 34, "inheritance": null, "description": "Μια ομάδα κληρονομικών διαταραχών του συνδετικού ιστού που προκαλούν εύθραυστα οστά που σπάνε εύκολα, συχνά με μπλε σκληρωτικούς χιτώνες, απώλεια ακοής και οδοντικά προβλήματα.", "management": "Κυκλικά ενδοφλέβια διφωσφονικά (παμιδρονάτη, ζολεδρονικό οξύ)· ορθοπεδική τοποθέτηση ράβδων στα μακρά οστά· φυσικοθεραπεία· δενοσουμάμπη (σε κλινική χρήση για την παιδική OI)· ρομοσοζουμάμπη (υπό ανάπτυξη)· παρακολούθηση της ακοής· οδοντιατρική φροντίδα για οδοντογένεση ατελή", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/el/conditions/osteogenesis-imperfecta" }, { "slug": "osteopetrosis", "name": "Οστεοπέτρωση", "diseases": [ { "mondoId": "MONDO:0017198", "name": "Οστεοπέτρωση", "genes": 14, "inheritance": null, "description": "Η οστεοπέτρωση, γνωστή και ως νόσος των μαρμάρινων οστών, είναι ένας περιγραφικός όρος που αναφέρεται σε μια ομάδα σπάνιων κληρονομικών παθήσεων του σκελετού, οι οποίες χαρακτηρίζονται από αυξημένη οστική πυκνότητα στις ακτινογραφίες.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/el/conditions/osteopetrosis" }, { "slug": "polycystic-liver-disease-1-and-2", "name": "Πολυκυστική νόσος του ήπατος (1 και 2)", "diseases": [ { "mondoId": "MONDO:0044327", "name": "Πολυκυστική νόσος του ήπατος 4", "genes": 1, "inheritance": "autosomal-dominant", "description": "Μια κυρίαρχα κληρονομούμενη πάθηση που προκαλείται από παραλλαγές του LRP5, με πολλαπλές κύστεις στο ήπαρ και περιστασιακά στους νεφρούς.", "management": "Η γνώση αυτή μπορεί να οδηγήσει σε απεικονιστικό έλεγχο του ήπατος και των νεφρών όταν εμφανιστούν συμπτώματα.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/polycystic-liver-disease-1-and-2" }, { "slug": "sclerosing-bone-dysplasias", "name": "Σκληρωτικές οστικές δυσπλασίες (υψηλή οστική μάζα)", "diseases": [ { "mondoId": "MONDO:0007764", "name": "Αυτοσωμική επικρατούσα οστική σκλήρυνση, τύπος Worth", "genes": 1, "inheritance": "autosomal-dominant", "description": "Πάθηση υψηλής οστικής μάζας που οφείλεται σε παραλλαγές του LRP5, συνήθως με λίγα συμπτώματα πέρα από μια έντονη γνάθο και οστικές προεξοχές στο στόμα.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/sclerosing-bone-dysplasias" }, { "slug": "vitreoretinopathy", "name": "Προλιferative Βιτρεοαμφιβληστροειδοπάθεια", "diseases": [ { "mondoId": "MONDO:0020248", "name": "Βιτρεοαμφιβληστροειδής Εκφύλιση", "genes": 21, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/vitreoretinopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-clavicle-morphology", "name": "Abnormal collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology" }, { "slug": "abnormal-cortical-bone-morphology", "name": "Abnormal cortical bone morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology" }, { "slug": "abnormal-heart-valve-morphology", "name": "Abnormal heart valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology" }, { "slug": "abnormal-macular-morphology", "name": "Abnormal macular morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-macular-morphology" }, { "slug": "abnormal-femoral-neck-head-morphology", "name": "Abnormal neck or head of thigh bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-femoral-neck-head-morphology" }, { "slug": "abnormal-optic-disc-morphology", "name": "Abnormal optic disc morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology" }, { "slug": "abnormal-lower-limb-bone-morphology", "name": "Abnormal shape of bones of the lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-lower-limb-bone-morphology" }, { "slug": "abnormal-pelvic-girdle-bone-morphology", "name": "Abnormal shape of pelvic girdle bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormal-vitreous-humor-morphology", "name": "Abnormal vitreous humor morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vitreous-humor-morphology" }, { "slug": "abnormal-retinal-vascular-morphology", "name": "Abnormality of retina blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology" }, { "slug": "abnormality-of-the-pancreas", "name": "Abnormality of the pancreas", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-pancreas" }, { "slug": "abnormality-of-the-respiratory-system", "name": "Abnormality of the respiratory system", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system" }, { "slug": "abnormal-rib-morphology", "name": "Abnormality of the ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-rib-morphology" }, { "slug": "abnormality-of-the-vertebral-column", "name": "Abnormality of the vertebral column", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormality-of-the-vertebral-column" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-anterior-chamber-of-the-eye", "name": "Absent anterior chamber of the eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/absent-anterior-chamber-of-the-eye" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "slug": "angle-closure-glaucoma", "name": "Angle closure glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/angle-closure-glaucoma" }, { "slug": "avascular-peripheral-retina", "name": "Avascular peripheral retina", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/avascular-peripheral-retina" }, { "slug": "back-pain", "name": "Back pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/back-pain" }, { "slug": "dental-malocclusion", "name": "Bad bite", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/dental-malocclusion" }, { "slug": "barrel-shaped-chest", "name": "Barrel-shaped chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/barrel-shaped-chest" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "biconcave-vertebral-bodies", "name": "Biconcave vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/biconcave-vertebral-bodies" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "congenital-blindness", "name": "Blindness present at birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/congenital-blindness" }, { "slug": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/blue-sclerae" }, { "slug": "hyperostosis", "name": "Bone overgrowth", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hyperostosis" }, { "slug": "tibial-bowing", "name": "Bowed shankbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tibial-bowing" }, { "slug": "dilatation-of-the-cerebral-artery", "name": "Brain aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "broad-jaw", "name": "Broad jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-jaw" }, { "slug": "metaphyseal-widening", "name": "Broad wide portion of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/metaphyseal-widening" }, { "slug": "calvarial-osteosclerosis", "name": "Calvarial osteosclerosis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/calvarial-osteosclerosis" }, { "slug": "chorioretinal-atrophy", "name": "Chorioretinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chorioretinal-atrophy" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "vertebral-compression-fracture", "name": "Compression fracture of a vertebral body", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vertebral-compression-fracture" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "congenital-nystagmus", "name": "Congenital nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-nystagmus" }, { "slug": "corneal-opacity", "name": "Corneal opacity", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/corneal-opacity" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "crumpled-long-bones", "name": "Crumpled long bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/crumpled-long-bones" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "decreased-circulating-calcitriol-concentration", "name": "Decreased circulating calcitriol concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-calcitriol-concentration" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/floppy-infant" }, { "slug": "craniosynostosis", "name": "Deformity of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/craniosynostosis" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "ectopic-fovea", "name": "Ectopic fovea", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ectopic-fovea" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "elevated-gamma-glutamyltransferase-level", "name": "Elevated gamma-glutamyltransferase level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "craniofacial-hyperostosis", "name": "Enlargement of craniofacial bones", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/craniofacial-hyperostosis" }, { "slug": "cranial-hyperostosis", "name": "Enlargement of skull bones", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cranial-hyperostosis" }, { "slug": "epiretinal-membrane", "name": "Epiretinal membrane", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epiretinal-membrane" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "exudative-vitreoretinopathy", "name": "Exudative vitreoretinopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exudative-vitreoretinopathy" }, { "slug": "vitreous-floaters", "name": "Eye floaters", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vitreous-floaters" }, { "slug": "falciform-retinal-fold", "name": "Falciform retinal fold", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/falciform-retinal-fold" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "early-satiety", "name": "Feeling full quickly when eating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/early-satiety" }, { "slug": "flat-forehead", "name": "Flat forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/flat-forehead" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "pedal-edema", "name": "Fluid accumulation in lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pedal-edema" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-abnormality", "name": "Growth abnormality", "systems": [], "url": "https://dantelabs.com/traits/growth-abnormality" }, { "slug": "osteopetrosis", "name": "Harder, denser, fracture-prone bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteopetrosis" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "increased-total-bilirubin", "name": "High bili total", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-total-bilirubin" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "horizontal-pendular-nystagmus", "name": "Horizontal pendular nystagmus", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/horizontal-pendular-nystagmus" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "clavicular-sclerosis", "name": "Increased bone density in collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/clavicular-sclerosis" }, { "slug": "generalized-osteosclerosis", "name": "Increased bone density in skeletal bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-osteosclerosis" }, { "slug": "increased-bone-mineral-density", "name": "Increased bone mineral density", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-bone-mineral-density" }, { "slug": "increased-susceptibility-to-fractures", "name": "Increased susceptibility to fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures" }, { "slug": "thickened-calvaria", "name": "Increased thickness of skull cap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thickened-calvaria" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "esotropia", "name": "Inward turning cross eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/esotropia" }, { "slug": "iris-atrophy", "name": "Iris degeneration", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/iris-atrophy" }, { "slug": "isosexual-precocious-puberty", "name": "Isosexual precocious puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/isosexual-precocious-puberty" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "leukocoria", "name": "Leukocoria", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/leukocoria" }, { "slug": "hepatic-cysts", "name": "Liver cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-cysts" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "mandibular-pain", "name": "Lower jaw pain", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mandibular-pain" }, { "slug": "macular-edema", "name": "Macular edema", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macular-edema" }, { "slug": "macular-exudate", "name": "Macular exudate", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macular-exudate" }, { "slug": "macular-telangiectasia", "name": "Macular telangiectasia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macular-telangiectasia" }, { "slug": "severely-reduced-visual-acuity", "name": "Marked vision impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity" }, { "slug": "metacarpal-diaphyseal-endosteal-sclerosis", "name": "Metacarpal diaphyseal endosteal sclerosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/metacarpal-diaphyseal-endosteal-sclerosis" }, { "slug": "metatarsal-diaphyseal-endosteal-sclerosis", "name": "Metatarsal diaphyseal endosteal sclerosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/metatarsal-diaphyseal-endosteal-sclerosis" }, { "slug": "mild-global-developmental-delay", "name": "Mild global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-global-developmental-delay" }, { "slug": "moderately-reduced-visual-acuity", "name": "Moderate visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/moderately-reduced-visual-acuity" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "multiple-renal-cysts", "name": "Multiple kidney cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-renal-cysts" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "phthisis-bulbi", "name": "Phthisis bulbi", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/phthisis-bulbi" }, { "slug": "polycystic-liver-disease", "name": "Polycystic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/polycystic-liver-disease" }, { "slug": "posterior-vitreous-detachment", "name": "Posterior vitreous detachment", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/posterior-vitreous-detachment" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "pseudoglioma", "name": "Pseudoglioma", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pseudoglioma" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "remnants-of-the-hyaloid-vascular-system", "name": "Remnants of the hyaloid vascular system", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/remnants-of-the-hyaloid-vascular-system" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "retinal-arteriolar-tortuosity", "name": "Retinal arteriolar tortuosity", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-arteriolar-tortuosity" }, { "slug": "retinal-calcification", "name": "Retinal calcification", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-calcification" }, { "slug": "retinal-detachment", "name": "Retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/retinal-detachment" }, { "slug": "retinal-exudate", "name": "Retinal exudate", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-exudate" }, { "slug": "retinal-hole", "name": "Retinal hole", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-hole" }, { "slug": "retinal-neovascularization", "name": "Retinal neovascularization", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-neovascularization" }, { "slug": "retinopathy-of-prematurity", "name": "Retinopathy of prematurity", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/retinopathy-of-prematurity" }, { "slug": "rhegmatogenous-retinal-detachment", "name": "Rhegmatogenous retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rhegmatogenous-retinal-detachment" }, { "slug": "increased-intracranial-pressure", "name": "Rise in pressure inside skull", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-intracranial-pressure" }, { "slug": "sclerotic-vertebral-body", "name": "Sclerotic vertebral body", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sclerotic-vertebral-body" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "serous-retinal-detachment", "name": "Serous retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/serous-retinal-detachment" }, { "slug": "severe-platyspondyly", "name": "Severe platyspondyly", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-platyspondyly" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "preauricular-skin-tag", "name": "Skin tag in front of the ear", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/preauricular-skin-tag" }, { "slug": "slender-long-bone", "name": "Slender long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slender-long-bone" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "pathologic-fracture", "name": "Spontaneous fracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pathologic-fracture" }, { "slug": "subcapsular-cataract", "name": "Subcapsular cataract", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/subcapsular-cataract" }, { "slug": "subretinal-fluid", "name": "Subretinal fluid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/subretinal-fluid" }, { "slug": "lymphedema", "name": "Swelling caused by excess lymph fluid under skin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphedema" }, { "slug": "thickened-cortex-of-long-bones", "name": "Thickened cortex of long bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thickened-cortex-of-long-bones" }, { "slug": "diaphyseal-undertubulation", "name": "Thickening of shaft or central part of long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/diaphyseal-undertubulation" }, { "slug": "torus-palatinus", "name": "Torus palatinus", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/torus-palatinus" }, { "slug": "tractional-retinal-detachment", "name": "Tractional retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tractional-retinal-detachment" }, { "slug": "visual-acuity-light-perception-with-projection", "name": "Visual acuity light perception with projection", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-acuity-light-perception-with-projection" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "vitreoretinopathy", "name": "Vitreoretinopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vitreoretinopathy" }, { "slug": "vitreous-hemorrhage", "name": "Vitreous hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vitreous-hemorrhage" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/waddling-gait" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "amer1", "symbol": "AMER1", "name": "APC membrane recruitment protein 1", "shared": 1, "url": "https://dantelabs.com/el/genes/amer1" }, { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/el/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/el/genes/atp6v0a2" }, { "slug": "best1", "symbol": "BEST1", "name": "bestrophin 1", "shared": 1, "url": "https://dantelabs.com/el/genes/best1" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/el/genes/bmp1" }, { "slug": "ca2", "symbol": "CA2", "name": "carbonic anhydrase 2", "shared": 1, "url": "https://dantelabs.com/el/genes/ca2" }, { "slug": "capn5", "symbol": "CAPN5", "name": "calpain 5", "shared": 1, "url": "https://dantelabs.com/el/genes/capn5" }, { "slug": "clcn7", "symbol": "CLCN7", "name": "Cl-/H+ antiporter 7", "shared": 1, "url": "https://dantelabs.com/el/genes/clcn7" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/el/genes/col11a1" }, { "slug": "col18a1", "symbol": "COL18A1", "name": "collagen type XVIII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/el/genes/col18a1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/el/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/el/genes/col1a2" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }