{ "url": "https://dantelabs.com/hu/genes/deaf1", "gene": { "slug": "deaf1", "symbol": "DEAF1", "name": "DEAF1 transcription factor", "hgnc": "HGNC:14677", "summary": null, "location": "11p15.5", "locusType": "gene with protein product", "aliases": [ "NUDR", "SPN", "ZMYND5" ], "previousSymbols": [], "ensemblId": "ENSG00000177030", "entrezId": 10522, "omim": [ "602635" ], "uniprot": [ "O75398" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 644233, "end": 695222, "strand": "-", "ensemblTranscript": "ENST00000382409.4", "refseqTranscript": "NM_021008.4", "ensemblProtein": "ENSP00000371846.3", "refseqProtein": "NP_066288.2", "exons": [ { "start": 644233, "end": 644654 }, { "start": 653962, "end": 654051 }, { "start": 674536, "end": 674783 }, { "start": 678694, "end": 678822 }, { "start": 679688, "end": 679816 }, { "start": 680963, "end": 681089 }, { "start": 684898, "end": 684963 }, { "start": 686858, "end": 686997 }, { "start": 687911, "end": 688057 }, { "start": 688331, "end": 688460 }, { "start": 691501, "end": 691598 }, { "start": 694759, "end": 695222 } ], "cds": { "start": 644550, "end": 695047 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 644233, "end": 706715, "strand": "-" }, "neighbourhood": { "release": "116", "start": 169728, "end": 1169727, "genes": [ { "symbol": "BET1L", "ensemblId": "ENSG00000177951", "biotype": "protein_coding", "start": 167784, "end": 208695, "strand": "-", "slug": "bet1l" }, { "symbol": "SCGB1C1", "ensemblId": "ENSG00000188076", "biotype": "protein_coding", "start": 193078, "end": 194575, "strand": "+", "slug": "scgb1c1" }, { "symbol": "CIMAP1A", "ensemblId": "ENSG00000177947", "biotype": "protein_coding", "start": 196761, "end": 200261, "strand": "+", "slug": "cimap1a" }, { "symbol": "RIC8A", "ensemblId": "ENSG00000177963", "biotype": "protein_coding", "start": 207478, "end": 215164, "strand": "+", "slug": "ric8a" }, { "symbol": "SIRT3", "ensemblId": "ENSG00000142082", "biotype": "protein_coding", "start": 215026, "end": 236931, "strand": "-", "slug": "sirt3" }, { "symbol": "PSMD13", "ensemblId": "ENSG00000185627", "biotype": "protein_coding", "start": 236948, "end": 252986, "strand": "+", "slug": "psmd13" }, { "symbol": "NLRP6", "ensemblId": "ENSG00000174885", "biotype": "protein_coding", "start": 278407, "end": 286691, "strand": "+", "slug": "nlrp6" }, { "symbol": "PGGHG", "ensemblId": "ENSG00000142102", "biotype": "protein_coding", "start": 289078, "end": 297510, "strand": "+", "slug": "pgghg" }, { "symbol": "IFITM5", "ensemblId": "ENSG00000206013", "biotype": "protein_coding", "start": 298200, "end": 299533, "strand": "-", "slug": "ifitm5" }, { "symbol": "IFITM2", "ensemblId": "ENSG00000185201", "biotype": "protein_coding", "start": 303655, "end": 309410, "strand": "+", "slug": "ifitm2" }, { "symbol": "", "ensemblId": "ENSG00000288681", "biotype": "protein_coding", "start": 308408, "end": 315272, "strand": "+" }, { "symbol": "IFITM3", "ensemblId": "ENSG00000142089", "biotype": "protein_coding", "start": 309010, "end": 329475, "strand": "-", "slug": "ifitm3" }, { "symbol": "IFITM1", "ensemblId": "ENSG00000185885", "biotype": "protein_coding", "start": 309997, "end": 315275, "strand": "+", "slug": "ifitm1" }, { "symbol": "B4GALNT4", "ensemblId": "ENSG00000182272", "biotype": "protein_coding", "start": 369457, "end": 382117, "strand": "+", "slug": "b4galnt4" }, { "symbol": "PKP3", "ensemblId": "ENSG00000184363", "biotype": "protein_coding", "start": 392574, "end": 404908, "strand": "+", "slug": "pkp3" }, { "symbol": "SIGIRR", "ensemblId": "ENSG00000185187", "biotype": "protein_coding", "start": 405711, "end": 417473, "strand": "-", "slug": "sigirr" }, { "symbol": "ANO9", "ensemblId": "ENSG00000185101", "biotype": "protein_coding", "start": 417921, "end": 442072, "strand": "-", "slug": "ano9" }, { "symbol": "PTDSS2", "ensemblId": "ENSG00000174915", "biotype": "protein_coding", "start": 448268, "end": 501142, "strand": "+", "slug": "ptdss2" }, { "symbol": "RNH1", "ensemblId": "ENSG00000023191", "biotype": "protein_coding", "start": 494510, "end": 507395, "strand": "-", "slug": "rnh1" }, { "symbol": "HRAS", "ensemblId": "ENSG00000174775", "biotype": "protein_coding", "start": 532242, "end": 537343, "strand": "-", "slug": "hras" }, { "symbol": "LRRC56", "ensemblId": "ENSG00000161328", "biotype": "protein_coding", "start": 536841, "end": 554925, "strand": "+", "slug": "lrrc56" }, { "symbol": "LMNTD2", "ensemblId": "ENSG00000185522", "biotype": "protein_coding", "start": 554850, "end": 560743, "strand": "-", "slug": "lmntd2" }, { "symbol": "RASSF7", "ensemblId": "ENSG00000099849", "biotype": "protein_coding", "start": 560207, "end": 564067, "strand": "+", "slug": "rassf7" }, { "symbol": "PHRF1", "ensemblId": "ENSG00000070047", "biotype": "protein_coding", "start": 576170, "end": 612263, "strand": "+", "slug": "phrf1" }, { "symbol": "IRF7", "ensemblId": "ENSG00000185507", "biotype": "protein_coding", "start": 612551, "end": 615983, "strand": "-", "slug": "irf7" }, { "symbol": "CDHR5", "ensemblId": "ENSG00000099834", "biotype": "protein_coding", "start": 616405, "end": 626078, "strand": "-", "slug": "cdhr5" }, { "symbol": "SCT", "ensemblId": "ENSG00000070031", "biotype": "protein_coding", "start": 626309, "end": 627236, "strand": "-", "slug": "sct" }, { "symbol": "DRD4", "ensemblId": "ENSG00000069696", "biotype": "protein_coding", "start": 637269, "end": 640706, "strand": "+", "slug": "drd4" }, { "symbol": "EPS8L2", "ensemblId": "ENSG00000177106", "biotype": "protein_coding", "start": 694438, "end": 727729, "strand": "+", "slug": "eps8l2" }, { "symbol": "TMEM80", "ensemblId": "ENSG00000177042", "biotype": "protein_coding", "start": 695011, "end": 705028, "strand": "+", "slug": "tmem80" }, { "symbol": "TALDO1", "ensemblId": "ENSG00000177156", "biotype": "protein_coding", "start": 747399, "end": 765035, "strand": "+", "slug": "taldo1" }, { "symbol": "GATD1", "ensemblId": "ENSG00000177225", "biotype": "protein_coding", "start": 767061, "end": 777507, "strand": "-", "slug": "gatd1" }, { "symbol": "CEND1", "ensemblId": "ENSG00000184524", "biotype": "protein_coding", "start": 785900, "end": 790113, "strand": "-", "slug": "cend1" }, { "symbol": "SLC25A22", "ensemblId": "ENSG00000177542", "biotype": "protein_coding", "start": 790474, "end": 798321, "strand": "-", "slug": "slc25a22" }, { "symbol": "PANO1", "ensemblId": "ENSG00000288675", "biotype": "protein_coding", "start": 797511, "end": 799190, "strand": "+", "slug": "pano1" }, { "symbol": "PIDD1", "ensemblId": "ENSG00000177595", "biotype": "protein_coding", "start": 798938, "end": 809753, "strand": "-", "slug": "pidd1" }, { "symbol": "RPLP2", "ensemblId": "ENSG00000177600", "biotype": "protein_coding", "start": 799414, "end": 812891, "strand": "+", "slug": "rplp2" }, { "symbol": "", "ensemblId": "ENSG00000293685", "biotype": "protein_coding", "start": 803398, "end": 804419, "strand": "-" }, { "symbol": "PNPLA2", "ensemblId": "ENSG00000177666", "biotype": "protein_coding", "start": 818907, "end": 825573, "strand": "+", "slug": "pnpla2" }, { "symbol": "CRACR2B", "ensemblId": "ENSG00000177685", "biotype": "protein_coding", "start": 826137, "end": 831993, "strand": "+", "slug": "cracr2b" }, { "symbol": "CD151", "ensemblId": "ENSG00000177697", "biotype": "protein_coding", "start": 832702, "end": 839831, "strand": "+", "slug": "cd151" }, { "symbol": "POLR2L", "ensemblId": "ENSG00000177700", "biotype": "protein_coding", "start": 837356, "end": 842727, "strand": "-", "slug": "polr2l" }, { "symbol": "TSPAN4", "ensemblId": "ENSG00000214063", "biotype": "protein_coding", "start": 840686, "end": 867120, "strand": "+", "slug": "tspan4" }, { "symbol": "CHID1", "ensemblId": "ENSG00000177830", "biotype": "protein_coding", "start": 866873, "end": 915579, "strand": "-", "slug": "chid1" }, { "symbol": "AP2A2", "ensemblId": "ENSG00000183020", "biotype": "protein_coding", "start": 924881, "end": 1012245, "strand": "+", "slug": "ap2a2" }, { "symbol": "MUC6", "ensemblId": "ENSG00000184956", "biotype": "protein_coding", "start": 1012823, "end": 1036718, "strand": "-", "slug": "muc6" }, { "symbol": "MUC2", "ensemblId": "ENSG00000198788", "biotype": "protein_coding", "start": 1074875, "end": 1110511, "strand": "+", "slug": "muc2" }, { "symbol": "MUC5AC", "ensemblId": "ENSG00000215182", "biotype": "protein_coding", "start": 1157953, "end": 1201138, "strand": "+", "slug": "muc5ac" } ], "truncated": false }, "reports": [ { "slug": "intellectual-disability", "name": "Intellectual Disability", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intellectual disability", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "gait-imbalance", "name": "Abnormality of balance", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-imbalance" }, { "slug": "abnormality-of-pain-sensation", "name": "Abnormality of pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-pain-sensation" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "agitation", "name": "Agitation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/agitation" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "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": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "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": "frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "brain-imaging-abnormality", "name": "Brain imaging abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/brain-imaging-abnormality" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clumsiness" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/constipation" }, { "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": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "dyskinesia", "name": "Disorder of involuntary muscle movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dyskinesia" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "drooling", "name": "Drooling", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/drooling" }, { "slug": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "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": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "fine-hair", "name": "Fine hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fine-hair" }, { "slug": "flat-face", "name": "Flat face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flat-face" }, { "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-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion" }, { "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": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "horizontal-eyebrow", "name": "Horizontal eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/horizontal-eyebrow" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "involuntary-movements", "name": "Involuntary movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/involuntary-movements" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "pain-insensitivity", "name": "Pain insensitivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pain-insensitivity" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "prominent-fingertip-pads", "name": "Prominent fingertip pads", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-fingertip-pads" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "motor-stereotypy", "name": "Repetitive movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-stereotypy" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "sacral-dimple", "name": "Spinal dimple", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sacral-dimple" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/waddling-gait" }, { "slug": "2-3-toe-cutaneous-syndactyly", "name": "Webbed skin of 2nd-3rd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/2-3-toe-cutaneous-syndactyly" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-based-gait" }, { "slug": "widow-s-peak", "name": "Widow's peak", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/widow-s-peak" } ], "related": [ { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/hu/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/hu/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/hu/genes/adnp" }, { "slug": "aff2", "symbol": "AFF2", "name": "ALF transcription elongation factor 2", "shared": 1, "url": "https://dantelabs.com/hu/genes/aff2" }, { "slug": "ahdc1", "symbol": "AHDC1", "name": "AT-hook DNA binding motif containing 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/ahdc1" }, { "slug": "alkbh8", "symbol": "ALKBH8", "name": "alkB homolog 8, tRNA methyltransferase", "shared": 1, "url": "https://dantelabs.com/hu/genes/alkbh8" }, { "slug": "ank3", "symbol": "ANK3", "name": "ankyrin 3", "shared": 1, "url": "https://dantelabs.com/hu/genes/ank3" }, { "slug": "ankrd11", "symbol": "ANKRD11", "name": "ankyrin repeat domain 11", "shared": 1, "url": "https://dantelabs.com/hu/genes/ankrd11" }, { "slug": "ap1s2", "symbol": "AP1S2", "name": "adaptor related protein complex 1 subunit sigma 2", "shared": 1, "url": "https://dantelabs.com/hu/genes/ap1s2" }, { "slug": "ap2m1", "symbol": "AP2M1", "name": "adaptor related protein complex 2 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/ap2m1" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/hu/genes/arhgef9" }, { "slug": "arid1a", "symbol": "ARID1A", "name": "AT-rich interaction domain 1A", "shared": 1, "url": "https://dantelabs.com/hu/genes/arid1a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }