{ "url": "https://dantelabs.com/el/genes/man1b1", "gene": { "slug": "man1b1", "symbol": "MAN1B1", "name": "mannosidase alpha class 1B member 1", "hgnc": "HGNC:6823", "summary": null, "location": "9q34.3", "locusType": "gene with protein product", "aliases": [ "MANA-ER", "MRT15", "ERManI", "ERMan1" ], "previousSymbols": [], "ensemblId": "ENSG00000177239", "entrezId": 11253, "omim": [ "604346" ], "uniprot": [ "Q9UKM7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 137086985, "end": 137109183, "strand": "+", "ensemblTranscript": "ENST00000371589.9", "refseqTranscript": "NM_016219.5", "ensemblProtein": "ENSP00000360645.4", "refseqProtein": "NP_057303.2", "exons": [ { "start": 137086985, "end": 137087218 }, { "start": 137088075, "end": 137088183 }, { "start": 137088869, "end": 137089005 }, { "start": 137096237, "end": 137096391 }, { "start": 137097828, "end": 137097937 }, { "start": 137099696, "end": 137099881 }, { "start": 137101005, "end": 137101153 }, { 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"strand": "+", "slug": "rnf229" }, { "symbol": "RNF208", "ensemblId": "ENSG00000212864", "biotype": "protein_coding", "start": 137219577, "end": 137222312, "strand": "-", "slug": "rnf208" }, { "symbol": "CYSRT1", "ensemblId": "ENSG00000197191", "biotype": "protein_coding", "start": 137225174, "end": 137226315, "strand": "+", "slug": "cysrt1" }, { "symbol": "RNF224", "ensemblId": "ENSG00000233198", "biotype": "protein_coding", "start": 137226908, "end": 137229640, "strand": "+", "slug": "rnf224" }, { "symbol": "SLC34A3", "ensemblId": "ENSG00000198569", "biotype": "protein_coding", "start": 137230757, "end": 137236555, "strand": "+", "slug": "slc34a3" }, { "symbol": "TUBB4B", "ensemblId": "ENSG00000188229", "biotype": "protein_coding", "start": 137241278, "end": 137243713, "strand": "+", "slug": "tubb4b" }, { "symbol": "CIMIP2A", "ensemblId": "ENSG00000188163", "biotype": "protein_coding", "start": 137243584, "end": 137247770, "strand": "-", "slug": "cimip2a" }, { "symbol": "STPG3", "ensemblId": "ENSG00000197768", "biotype": "protein_coding", "start": 137250608, "end": 137253483, "strand": "+", "slug": "stpg3" }, { "symbol": "NELFB", "ensemblId": "ENSG00000188986", "biotype": "protein_coding", "start": 137255210, "end": 137273542, "strand": "+", "slug": "nelfb" }, { "symbol": "TOR4A", "ensemblId": "ENSG00000198113", "biotype": "protein_coding", "start": 137274854, "end": 137282641, "strand": "+", "slug": "tor4a" }, { "symbol": "NRARP", "ensemblId": "ENSG00000198435", "biotype": "protein_coding", "start": 137299631, "end": 137302271, "strand": "-", "slug": "nrarp" }, { "symbol": "EXD3", "ensemblId": "ENSG00000187609", "biotype": "protein_coding", "start": 137306894, "end": 137423911, "strand": "-", "slug": "exd3" }, { "symbol": "NOXA1", "ensemblId": "ENSG00000188747", "biotype": "protein_coding", "start": 137422752, "end": 137434451, "strand": "+", "slug": "noxa1" }, { "symbol": "ENTPD8", "ensemblId": "ENSG00000188833", "biotype": "protein_coding", "start": 137434362, "end": 137441881, "strand": "-", "slug": "entpd8" }, { "symbol": "NSMF", "ensemblId": "ENSG00000165802", "biotype": "protein_coding", "start": 137447570, "end": 137459576, "strand": "-", "slug": "nsmf" }, { "symbol": "PNPLA7", "ensemblId": "ENSG00000130653", "biotype": "protein_coding", "start": 137459952, "end": 137550560, "strand": "-", "slug": "pnpla7" }, { "symbol": "MRPL41", "ensemblId": "ENSG00000182154", "biotype": "protein_coding", "start": 137550424, "end": 137552555, "strand": "+", "slug": "mrpl41" }, { "symbol": "DPH7", "ensemblId": "ENSG00000148399", "biotype": "protein_coding", "start": 137554436, "end": 137578936, "strand": "-", "slug": "dph7" }, { "symbol": "ZMYND19", "ensemblId": "ENSG00000165724", "biotype": "protein_coding", "start": 137582066, "end": 137590520, "strand": "-", "slug": "zmynd19" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "Συγγενείς διαταραχές της γλυκοζυλίωσης", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Συγγενείς διαταραχές της γλυκοζυλίωσης (CDG)", "genes": 98, "inheritance": null, "description": "Μια μεγάλη ομάδα κληρονομικών παθήσεων κατά τις οποίες οι αλυσίδες σακχάρων (γλυκάνες) δεν σχηματίζονται ή δεν προσδένονται σωστά στις πρωτεΐνες και στα λιπίδια, συχνά επηρεάζοντας τον εγκέφαλο, το ήπαρ, την πήξη του αίματος, την ανάπτυξη και πολλά άλλα συστήματα του οργανισμού. Οι περισσότερες είναι αυτοσωματικές υπολειπόμενες, ενώ ορισμένες είναι συνδεδεμένες με το X ή αυτοσωματικές επικρατούσες.", "management": null, "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/el/conditions/disorder-of-glycosylation" }, { "slug": "intellectual-disability", "name": "Νοητική αναπηρία", "diseases": [ { "mondoId": "MONDO:0001071", "name": "νοητική αναπηρία", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/el/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "abnormal-position-of-hair-whorl", "name": "Abnormal position of hair whorl", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-position-of-hair-whorl" }, { "slug": "abnormal-brain-morphology", "name": "Abnormal shape of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-brain-morphology" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autism" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "broad-eyebrow", "name": "Broad eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-eyebrow" }, { "slug": "bulbous-nose", "name": "Bulbous nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bulbous-nose" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/floppy-infant" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "flat-occiput", "name": "Flat back of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flat-occiput" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "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": "thick-vermilion-border", "name": "Full lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/thick-vermilion-border" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "cutis-laxa", "name": "Hanging skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cutis-laxa" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "slug": "polyphagia", "name": "Increased appetite", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polyphagia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "inverted-nipples", "name": "Inverted nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inverted-nipples" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "sparse-lateral-eyebrow", "name": "Limited hair on end of eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-lateral-eyebrow" }, { "slug": "long-eyebrows", "name": "Long eyebrows", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-eyebrows" }, { "slug": "long-eyelashes", "name": "Long eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/long-eyelashes" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "multiple-cafe-au-lait-spots", "name": "Multiple birthmarks", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "eclabion", "name": "Outward turned lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/eclabion" }, { "slug": "periventricular-heterotopia", "name": "Periventricular heterotopia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/periventricular-heterotopia" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "pointed-chin", "name": "Pointed chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pointed-chin" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "resting-tremor", "name": "Resting tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/resting-tremor" }, { "slug": "short-chin", "name": "Short chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-chin" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-philtrum", "name": "Short philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-philtrum" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "truncal-obesity", "name": "Truncal obesity", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/truncal-obesity" }, { "slug": "type-ii-transferrin-isoform-profile", "name": "Type II transferrin isoform profile", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/type-ii-transferrin-isoform-profile" }, { "slug": "underdeveloped-nasolabial-fold", "name": "Underdeveloped nasolabial fold", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/underdeveloped-nasolabial-fold" }, { "slug": "2-3-toe-syndactyly", "name": "Webbed 2nd and 3rd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/2-3-toe-syndactyly" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-based-gait" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "wide-nose", "name": "Wide nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-nose" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 2, "url": "https://dantelabs.com/el/genes/atp6ap2" }, { "slug": "nus1", "symbol": "NUS1", "name": "NUS1 dehydrodolichyl diphosphate synthase subunit", "shared": 2, "url": "https://dantelabs.com/el/genes/nus1" }, { "slug": "pigg", "symbol": "PIGG", "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)", "shared": 2, "url": "https://dantelabs.com/el/genes/pigg" }, { "slug": "pigl", "symbol": "PIGL", "name": "phosphatidylinositol glycan anchor biosynthesis class L", "shared": 2, "url": "https://dantelabs.com/el/genes/pigl" }, { "slug": "st3gal3", "symbol": "ST3GAL3", "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3", "shared": 2, "url": "https://dantelabs.com/el/genes/st3gal3" }, { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/el/genes/a4galt" }, { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/el/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/el/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/el/genes/adnp" }, { "slug": "aff2", "symbol": "AFF2", "name": "ALF transcription elongation factor 2", "shared": 1, "url": "https://dantelabs.com/el/genes/aff2" }, { "slug": "ahdc1", "symbol": "AHDC1", "name": "AT-hook DNA binding motif containing 1", "shared": 1, "url": "https://dantelabs.com/el/genes/ahdc1" }, { "slug": "alg1", "symbol": "ALG1", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/el/genes/alg1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }