{ "atlas_id": "crv-labs-disease-genes-atlas-v1", "total_duration_ms": 2, "total_panels": 32, "total_panel_gene_assignments": 953, "unique_gene_count": 630, "pleiotropic_gene_count_ge_2": 224, "high_pleiotropy_hubs_ge_4": 22, "panels": [ { "panel_id": "alzheimers_disease_and_tauopathies", "display_name": "Alzheimer's Disease & Tauopathies", "clinical_domain": "Neurology & Neurodegeneration", "primary_bio_suite_pipeline": "chrom-condensate / pan-cryptic", "mechanistic_modality": "Amyloid/tau proteostasis, TREM2/CD33 microglial signaling & APOE lipid transport", "gene_count": 35, "genes": [ "APOE", "APP", "PSEN1", "PSEN2", "MAPT", "TREM2", "SORL1", "ABCA7", "BIN1", "CLU", "CR1", "PICALM", "CD33", "MS4A4A", "MS4A6A", "PLCG2", "ABI3", "INPP5D", "SPI1", "PILRA", "CASS4", "PTK2B", "EPHA1", "CD2AP", "FERMT2", "SLC24A4", "ADAM10", "ACE", "KANSL1", "CTSB", "CTSD", "BACE1", "BACE2", "GRN", "TMEM106B" ], "lab_verified_anchors": [ "APOE", "APP" ] }, { "panel_id": "parkinsons_disease_and_synucleinopathies", "display_name": "Parkinson's Disease & Synucleinopathies", "clinical_domain": "Neurology & Neurodegeneration", "primary_bio_suite_pipeline": "pan-cryptic / co-evo", "mechanistic_modality": "Alpha-synuclein clearance, PRKN/PINK1 mitophagy & GBA1/LRRK2 endolysosomal flux", "gene_count": 13, "genes": [ "SNCA", "LRRK2", "GBA1", "PRKN", "PINK1", "PARK7", "VPS35", "VPS13C", "TMEM175", "GAK", "MAPT", "CTSB", "CTSD" ], "lab_verified_anchors": [] }, { "panel_id": "als_frontotemporal_dementia_and_motor_neuron", "display_name": "ALS, Frontotemporal Dementia & Motor Neuron Disease", "clinical_domain": "Neurology & Neurodegeneration", "primary_bio_suite_pipeline": "chrom-condensate", "mechanistic_modality": "C9orf72 G-quadruplex hexanucleotide repeat condensates, TDP-43/FUS RNP phase separation & SMN1/SMN2 splicing", "gene_count": 17, "genes": [ "C9orf72", "SOD1", "TARDBP", "FUS", "TBK1", "OPTN", "NEK1", "UNC13A", "ATXN2", "STMN2", "GRN", "TMEM106B", "MAPT", "SMN1", "SMN2", "PMP22", "HTT" ], "lab_verified_anchors": [ "SMN1", "SMN2" ] }, { "panel_id": "autism_spectrum_and_neurodevelopmental", "display_name": "Autism Spectrum & Neurodevelopmental Disorders", "clinical_domain": "Neuropsychiatry & Synaptic Signaling", "primary_bio_suite_pipeline": "pan-cryptic / chrom-condensate", "mechanistic_modality": "Postsynaptic SHANK/NRXN scaffolds, SWI/SNF chromatin remodelers (ARID1B/CHD8) & voltage-gated Ca2+/Na+ channels", "gene_count": 38, "genes": [ "SHANK3", "SHANK2", "NRXN1", "NLGN3", "NLGN4X", "SYNGAP1", "CHD8", "SCN2A", "SCN1A", "MECP2", "FMR1", "PTEN", "TSC1", "TSC2", "UBE3A", "ADNP", "ARID1B", "DYRK1A", "FOXP1", "FOXP2", "GRIN2B", "GRIN2A", "CNTNAP2", "RELN", "CACNA1C", "KANSL1", "KMT2A", "CACNA1H", "GABRB3", "OXTR", "POGZ", "KMT5B", "ASH1L", "DEAF1", "KDM5B", "BCL11A", "TBR1", "GIGYF1" ], "lab_verified_anchors": [ "ARID1B", "CACNA1C" ] }, { "panel_id": "adhd_and_dopaminergic_catecholamine_signaling", "display_name": "ADHD & Dopaminergic Catecholamine Signaling", "clinical_domain": "Neuropsychiatry & Synaptic Signaling", "primary_bio_suite_pipeline": "pan-cryptic", "mechanistic_modality": "Dopamine/norepinephrine transporters (SLC6A3/SLC6A2), DRD4 VNTR polymorphism & COMT/MAOA catabolism", "gene_count": 24, "genes": [ "DRD4", "DRD5", "DRD2", "SLC6A3", "SLC6A2", "SLC6A4", "COMT", "DBH", "MAOA", "SNAP25", "ADRA2A", "BDNF", "HTR1B", "HTR2A", "FOXP2", "ST3GAL3", "PTPRF", "SORCS3", "CADPS2", "LPHN3", "ADGRL3", "GIT1", "TPH2", "CHRNA7" ], "lab_verified_anchors": [] }, { "panel_id": "schizophrenia_and_bipolar_psychosis", "display_name": "Schizophrenia & Bipolar Psychosis", "clinical_domain": "Neuropsychiatry & Synaptic Signaling", "primary_bio_suite_pipeline": "pan-cryptic / chrom-condensate", "mechanistic_modality": "CACNA1C intronic G4 VNTR splicing, complement C4A synaptic pruning & NMDA/AMPA glutamatergic signaling", "gene_count": 41, "genes": [ "C4A", "DRD2", "CACNA1C", "CACNB2", "CACNA1G", "GRIN2A", "GRIA1", "GRIA3", "GRM3", "ZNF804A", "DISC1", "NRG1", "ERBB4", "TCF4", "ANK3", "FURIN", "SETD1A", "TRIO", "RBFOX1", "CSMD1", "MIR137", "COMT", "BDNF", "HTR2A", "SHANK3", "NRXN1", "CHD8", "SYNGAP1", "SLC39A8", "RBM12", "AKAP11", "SRD5A2", "CUL1", "XPO7", "SP4", "RB1CC1", "HERC1", "STAG1", "FAM120A", "ZMYM2", "SRRM2" ], "lab_verified_anchors": [ "CACNA1C" ] }, { "panel_id": "depression_anxiety_and_circadian_sleep", "display_name": "Depression, Anxiety & Circadian Sleep Regulation", "clinical_domain": "Neuropsychiatry & Synaptic Signaling", "primary_bio_suite_pipeline": "pan-cryptic", "mechanistic_modality": "Serotonergic/orexinergic GPCRs, HPA-axis glucocorticoid chaperones (FKBP5/NR3C1) & CLOCK/ARNTL transcriptional loops", "gene_count": 33, "genes": [ "HCRTR1", "HCRTR2", "HCRT", "SLC6A4", "HTR1A", "HTR2A", "HTR2C", "TPH2", "MAOA", "MAOB", "BDNF", "FKBP5", "NR3C1", "CRHR1", "GABRA1", "GABRA2", "GABRB2", "GABRG2", "GRM2", "GRM5", "GRIN2B", "CLOCK", "ARNTL", "PER1", "PER2", "PER3", "CRY1", "CRY2", "MTNR1A", "MTNR1B", "OLFM4", "NEGR1", "DRD2" ], "lab_verified_anchors": [] }, { "panel_id": "pain_migraine_and_nociception", "display_name": "Pain, Migraine & Nociceptive Channelopathies", "clinical_domain": "Neurology & Ion Channelopathies", "primary_bio_suite_pipeline": "pan-cryptic / co-evo", "mechanistic_modality": "Nociceptive Nav1.7–1.9 (SCN9A–11A), TRP thermosensors, CGRP (CALCA/RAMP1) & mu/delta/kappa opioid receptors", "gene_count": 28, "genes": [ "CALCA", "CALCB", "RAMP1", "CALCRL", "SCN9A", "SCN10A", "SCN11A", "TRPV1", "TRPA1", "TRPM8", "OPRM1", "OPRD1", "OPRK1", "COMT", "FAAH", "NGF", "NTRK1", "CACNA1A", "ATP1A2", "SCN1A", "KCNK18", "PRDM16", "HTR1F", "ADCYAP1", "VIPR1", "VIPR2", "P2RX3", "P2RX7" ], "lab_verified_anchors": [] }, { "panel_id": "asthma_airway_hyperresponsiveness_and_atopy", "display_name": "Asthma, Airway Hyperresponsiveness & Atopy", "clinical_domain": "Immunology & Pulmonary Medicine", "primary_bio_suite_pipeline": "pan-cryptic", "mechanistic_modality": "Epithelial alarmins (TSLP/IL33), Th2 cytokines (IL4R/IL13), 17q21 ORMDL3/GSDMB locus & leukotriene synthesis", "gene_count": 30, "genes": [ "TSLP", "IL33", "IL1RL1", "IL4R", "IL13", "IL4", "IL5", "IL5RA", "ORMDL3", "GSDMB", "ADAM33", "ADRB2", "ALOX5", "LTC4S", "CYSLTR1", "HLA-DQB1", "HLA-DRB1", "SMAD3", "RORA", "STAT6", "FCER1A", "FLG", "SPINK5", "CDHR3", "TLR2", "TLR4", "TGFB1", "DPP10", "CHI3L1", "PDE4D" ], "lab_verified_anchors": [] }, { "panel_id": "neuroinflammation_and_microglial_signaling", "display_name": "Neuroinflammation & Microglial Innate Signaling", "clinical_domain": "Neurology & Immunology", "primary_bio_suite_pipeline": "co-evo / pan-cryptic", "mechanistic_modality": "DAM microglial checkpoints (TREM2/PLCG2/CD33), cGAS-STING1 cytosolic DNA sensing & NLRP3 inflammasome activation", "gene_count": 26, "genes": [ "TREM2", "CD33", "MS4A4A", "MS4A6A", "PLCG2", "ABI3", "INPP5D", "SPI1", "PILRA", "CR1", "CLU", "ABCA7", "EPHA1", "TBK1", "OPTN", "GRN", "LRRK2", "NLRP3", "STING1", "CGAS", "TLR4", "IL6", "TNF", "C4A", "CSMD1", "P2RX7" ], "lab_verified_anchors": [] }, { "panel_id": "endolysosomal_autophagy_and_proteostasis", "display_name": "Endolysosomal Trafficking, Autophagy & Proteostasis", "clinical_domain": "Cell Biology & Neurodegeneration", "primary_bio_suite_pipeline": "pan-cryptic", "mechanistic_modality": "Retromer sorting (SORL1/VPS35), lysosomal hydrolases (GBA1/GLA/GAA/CTSD) & ubiquitin-autophagy adaptors (SQSTM1/OPTN/TBK1)", "gene_count": 29, "genes": [ "SORL1", "BIN1", "PICALM", "CD2AP", "GBA1", "LRRK2", "VPS35", "VPS13C", "TMEM175", "GAK", "PRKN", "PINK1", "PARK7", "GRN", "TMEM106B", "TBK1", "OPTN", "CTSB", "CTSD", "C9orf72", "GLA", "GAA", "NPC1", "SMPD1", "SQSTM1", "VCP", "UBE3A", "RB1CC1", "HERC1" ], "lab_verified_anchors": [] }, { "panel_id": "amyloid_processing_and_lipid_metabolism", "display_name": "Amyloid Precursor Processing & Brain Lipid Metabolism", "clinical_domain": "Neurology & Lipidomics", "primary_bio_suite_pipeline": "pan-cryptic / pseudo-loss", "mechanistic_modality": "Alpha/beta/gamma-secretase cleavage (ADAM10/BACE1/PSEN1) & APOE/ABCA7/CLU lipoprotein clearance", "gene_count": 12, "genes": [ "APOE", "APP", "PSEN1", "PSEN2", "ABCA7", "CLU", "SORL1", "ADAM10", "BACE1", "BACE2", "ACE", "GBA1" ], "lab_verified_anchors": [ "APOE", "APP" ] }, { "panel_id": "cytoskeletal_and_axonal_transport", "display_name": "Cytoskeletal Dynamics & Axonal Transport", "clinical_domain": "Neurology & Structural Cell Biology", "primary_bio_suite_pipeline": "chrom-condensate", "mechanistic_modality": "Microtubule stabilization (MAPT/STMN2), focal adhesion signaling (PTK2B/FERMT2) & mitochondrial axonal fusion (MFN2)", "gene_count": 13, "genes": [ "MAPT", "BIN1", "CASS4", "FERMT2", "PTK2B", "CD2AP", "EPHA1", "STMN2", "NEK1", "PMP22", "HTT", "SNCA", "MFN2" ], "lab_verified_anchors": [] }, { "panel_id": "rna_metabolism_and_repeat_expansions", "display_name": "RNA Metabolism, Splicing & Tandem Repeat Expansions", "clinical_domain": "Structural Genomics & RNA Biology", "primary_bio_suite_pipeline": "chrom-condensate / pan-cryptic", "mechanistic_modality": "Non-B DNA G4/hairpin repeat expansions (C9orf72/FMR1/HTT/FXN/ATXN2) & cryptic exon splicing (UNC13A/STMN2/SMN2)", "gene_count": 13, "genes": [ "C9orf72", "TARDBP", "FUS", "ATXN2", "SMN1", "SMN2", "FMR1", "HTT", "UNC13A", "STMN2", "RBFOX1", "SRRM2", "FXN" ], "lab_verified_anchors": [ "SMN1", "SMN2" ] }, { "panel_id": "synaptic_transmission_channelopathies_and_ion_flux", "display_name": "Synaptic Transmission, Channelopathies & Ion Flux", "clinical_domain": "Neuropsychiatry & Ion Channelopathies", "primary_bio_suite_pipeline": "pan-cryptic", "mechanistic_modality": "Voltage-gated Na+/K+/Ca2+ channels, ionotropic glutamate/GABA receptors & presynaptic vesicle release machinery", "gene_count": 63, "genes": [ "SCN1A", "SCN2A", "SCN9A", "SCN10A", "SCN11A", "KCNQ2", "KCNK18", "CACNA1A", "CACNA1C", "CACNB2", "CACNA1G", "CACNA1H", "ATP1A2", "GRIN2A", "GRIN2B", "GRIA1", "GRIA3", "GRM2", "GRM3", "GRM5", "GABRA1", "GABRA2", "GABRB2", "GABRB3", "GABRG2", "CHRNA7", "TRPV1", "TRPA1", "TRPM8", "P2RX3", "P2RX7", "SLC24A4", "BDNF", "COMT", "DRD2", "DRD4", "DRD5", "HTR1A", "HTR1B", "HTR1F", "HTR2A", "HTR2C", "SHANK3", "SHANK2", "NRXN1", "NLGN3", "NLGN4X", "MECP2", "FMR1", "KANSL1", "UNC13A", "SNCA", "LRRK2", "APP", "SYNGAP1", "ANK3", "SLC6A2", "SLC6A3", "SLC6A4", "SNAP25", "OPRM1", "OPRD1", "OPRK1" ], "lab_verified_anchors": [ "CACNA1C", "APP" ] }, { "panel_id": "mitochondrial_bioenergetics_and_neuropathies", "display_name": "Mitochondrial Bioenergetics, OXPHOS & Neuropathies", "clinical_domain": "Mitochondrial Genomics & Bioenergetics", "primary_bio_suite_pipeline": "coi-barcode / co-evo", "mechanistic_modality": "MtDNA replication/maintenance (POLG/TWNK/OPA1), OXPHOS complexes (MT-CO1/MT-ND4/SURF1) & MT-RNR1 aminoglycoside safety", "gene_count": 26, "genes": [ "POLG", "TWNK", "OPA1", "MFN2", "DNM1L", "SURF1", "NDUFS1", "NDUFV1", "SDHA", "SDHB", "UQCRC2", "COX10", "SCO2", "FXN", "MT-ND1", "MT-ND4", "MT-ND6", "MT-TL1", "MT-TK", "MT-ATP6", "MT-CO1", "MT-CYB", "MT-RNR1", "PRKN", "PINK1", "PARK7" ], "lab_verified_anchors": [ "MT-CO1", "MT-RNR1" ] }, { "panel_id": "oncology_receptor_tyrosine_kinases_and_mapk_signaling", "display_name": "Oncology: Receptor Tyrosine Kinases & RAS-MAPK-PI3K", "clinical_domain": "Oncology & Precision Medicine", "primary_bio_suite_pipeline": "clonal-synth / co-evo", "mechanistic_modality": "RTK driver fusions/amplifications (EGFR/ERBB2/ALK/MET/RET), KRAS/BRAF MAPK cascade & PTEN/PIK3CA/MTOR axis", "gene_count": 33, "genes": [ "EGFR", "ERBB2", "ERBB3", "ERBB4", "MET", "ALK", "ROS1", "RET", "FGFR1", "FGFR2", "FGFR3", "KIT", "PDGFRA", "FLT3", "NTRK1", "NTRK2", "NTRK3", "KRAS", "NRAS", "HRAS", "BRAF", "MAP2K1", "PIK3CA", "PTEN", "AKT1", "MTOR", "TSC1", "TSC2", "PTK2B", "EPHA1", "NF1", "NF2", "STK11" ], "lab_verified_anchors": [ "EGFR", "KRAS", "STK11" ] }, { "panel_id": "oncology_dna_damage_repair_and_cell_cycle", "display_name": "Oncology: DNA Damage Repair (DDR) & Cell Cycle Checkpoints", "clinical_domain": "Oncology & Synthetic Lethality", "primary_bio_suite_pipeline": "clonal-synth", "mechanistic_modality": "Homologous recombination (BRCA1/2, PALB2, RAD51C/D), mismatch repair (MLH1/MSH2) & PARP1/POLQ/WRN/USP1 synthetic lethality", "gene_count": 34, "genes": [ "TP53", "BRCA1", "BRCA2", "ATM", "ATR", "PALB2", "CHEK1", "CHEK2", "RAD51C", "RAD51D", "BARD1", "BRIP1", "MLH1", "MSH2", "MSH6", "PMS2", "POLE", "POLD1", "PARP1", "POLQ", "USP1", "WRN", "WEE1", "RB1", "CDKN2A", "CDK4", "CDK6", "CCND1", "CCNE1", "MDM2", "NEK1", "AURKA", "AURKB", "PLK1" ], "lab_verified_anchors": [ "TP53", "BRCA1", "BRCA2", "PARP1", "WRN" ] }, { "panel_id": "oncology_epigenetics_chromatin_and_transcription", "display_name": "Oncology: Epigenetics, Chromatin Remodeling & Transcription", "clinical_domain": "Oncology & Epigenomics", "primary_bio_suite_pipeline": "clonal-synth / chrom-condensate", "mechanistic_modality": "SWI/SNF paralog synthetic lethality (SMARCA4/ARID1A/ARID1B), clonal hematopoiesis (DNMT3A/TET2/ASXL1) & oncogenic fusions", "gene_count": 36, "genes": [ "MYC", "MYCN", "ARID1A", "ARID1B", "SMARCA4", "SMARCB1", "EZH2", "DNMT3A", "TET2", "ASXL1", "IDH1", "IDH2", "KMT2A", "KMT2D", "KMT5B", "SETD1A", "KDM5B", "CREBBP", "EP300", "MEN1", "NPM1", "PML", "RARA", "TMPRSS2", "ERG", "BCR", "ABL1", "EWSR1", "FLI1", "SPI1", "MECP2", "CHD8", "KANSL1", "ADNP", "POGZ", "STAG1" ], "lab_verified_anchors": [ "ARID1A", "ARID1B", "SMARCA4" ] }, { "panel_id": "oncology_hormone_receptors_hypoxia_and_synthetic_lethality", "display_name": "Oncology: Hormone Receptors, Hypoxia & Metabolic Synthetic Lethality", "clinical_domain": "Oncology & Synthetic Lethality", "primary_bio_suite_pipeline": "clonal-synth / pan-cryptic", "mechanistic_modality": "MTAP-codeleted PRMT5/MAT2A synthetic lethality, VHL-HIF2A (EPAS1) hypoxia signaling & BCL2/MCL1 apoptotic switches", "gene_count": 31, "genes": [ "ESR1", "AR", "PGR", "VHL", "HIF1A", "EPAS1", "KEAP1", "NFE2L2", "MTAP", "PRMT5", "MAT2A", "WRN", "USP1", "POLQ", "WEE1", "CHEK1", "XPO1", "BCL2", "BCL2L1", "MCL1", "BIRC5", "NOTCH1", "SMO", "PTCH1", "CTNNB1", "APC", "SMAD4", "CDH1", "STK11", "NF1", "NF2" ], "lab_verified_anchors": [ "MTAP", "PRMT5", "WRN", "STK11" ] }, { "panel_id": "immuno_oncology_and_checkpoint_signaling", "display_name": "Immuno-Oncology, T-Cell Checkpoints & B-Cell Lineage Targets", "clinical_domain": "Oncology & Immunology", "primary_bio_suite_pipeline": "clonal-synth / co-evo", "mechanistic_modality": "Coinhibitory checkpoints (PDCD1/CD274/CTLA4/LAG3/TIGIT), myeloid CD47-SIRPA axis & CAR-T/bispecific antigens (CD19/BCMA/CD38)", "gene_count": 22, "genes": [ "CD274", "PDCD1", "CTLA4", "LAG3", "TIGIT", "HAVCR2", "IDO1", "CD47", "SIRPA", "BTK", "SYK", "PIK3CD", "BCL2", "CD19", "MS4A1", "CD38", "TNFRSF17", "B2M", "JAK1", "JAK2", "PLCG2", "INPP5D" ], "lab_verified_anchors": [] }, { "panel_id": "autoimmune_and_autoinflammatory_disorders", "display_name": "Autoimmune & Autoinflammatory Disorders", "clinical_domain": "Immunology & Rheumatology", "primary_bio_suite_pipeline": "pan-cryptic / co-evo", "mechanistic_modality": "JAK-STAT/TYK2 cytokine signaling, IL-23/IL-17/TNF axes, MHC class I/II alleles (HLA-B/DRB1/DQB1) & inflammasome sensors", "gene_count": 43, "genes": [ "TNF", "IL6", "IL6R", "IL23A", "IL12B", "IL17A", "IL4R", "IL13", "IL4", "IL5", "IL33", "TSLP", "IL1B", "IFNAR1", "TYK2", "JAK1", "JAK2", "JAK3", "STAT3", "STAT4", "STAT6", "NOD2", "ATG16L1", "IL23R", "PTPN22", "CTLA4", "HLA-B", "HLA-DRB1", "HLA-DQB1", "MEFV", "NLRP3", "TNFSF15", "ITGA4", "ITGB7", "S1PR1", "BTK", "TLR7", "STING1", "CR1", "C4A", "ORMDL3", "GSDMB", "P2RX7" ], "lab_verified_anchors": [ "HLA-B" ] }, { "panel_id": "cardiovascular_lipid_metabolism_and_atherosclerosis", "display_name": "Cardiovascular Lipid Metabolism, Lipoproteins & Coagulation", "clinical_domain": "Cardiometabolic & Vascular Medicine", "primary_bio_suite_pipeline": "pseudo-loss / pan-cryptic", "mechanistic_modality": "Convergent human knockout cardioprotective targets (PCSK9/ANGPTL3/APOC3), LPA kringle-IV VNTR & coagulation cascade factors", "gene_count": 31, "genes": [ "PCSK9", "LDLR", "APOB", "APOE", "LPA", "ANGPTL3", "ANGPTL4", "APOC3", "CETP", "HMGCR", "NPC1L1", "ABCA1", "ABCA7", "SCARB1", "LPL", "SORT1", "CLU", "ACE", "AGT", "AGTR1", "ADRB1", "ADRB2", "NPPA", "NPPB", "F2", "F5", "F9", "F10", "F11", "F12", "SERPINC1" ], "lab_verified_anchors": [ "PCSK9", "APOE", "LPA", "ANGPTL3" ] }, { "panel_id": "cardiomyopathies_and_cardiac_channelopathies", "display_name": "Cardiomyopathies & Cardiac Arrhythmia Channelopathies", "clinical_domain": "Cardiometabolic & Vascular Medicine", "primary_bio_suite_pipeline": "pan-cryptic", "mechanistic_modality": "Sarcomeric thick/thin filaments (MYBPC3/MYH7/TTN), desmosomal plakophilin (PKP2/DSP) & long-QT channels (KCNQ1/KCNH2/SCN5A)", "gene_count": 19, "genes": [ "MYBPC3", "MYH7", "TNNT2", "TNNI3", "TTN", "LMNA", "DSP", "PKP2", "PLN", "RYR2", "KCNQ1", "KCNH2", "SCN5A", "CACNA1C", "BAG3", "TTR", "GLA", "DMD", "FXN" ], "lab_verified_anchors": [ "CACNA1C" ] }, { "panel_id": "metabolic_endocrine_obesity_and_masld", "display_name": "Metabolic, Endocrine, Obesity & MASLD/MASH Hepatology", "clinical_domain": "Cardiometabolic & Endocrine Medicine", "primary_bio_suite_pipeline": "pseudo-loss / pan-cryptic", "mechanistic_modality": "Incretin GPCRs (GLP1R/GIPR/GCGR), hypothalamic MC4R/GPR75 satiety & hepatoprotective LoF targets (HSD17B13/PNPLA3/MARC1/INHBE)", "gene_count": 50, "genes": [ "GLP1R", "GIPR", "GCGR", "MC4R", "LEP", "LEPR", "POMC", "PCSK1", "GPR75", "SIM1", "SH2B1", "AGRP", "NPY", "GHRL", "FTO", "INSR", "IRS1", "PPARG", "KCNJ11", "ABCC8", "GCK", "HNF1A", "HNF4A", "SLC5A2", "DPP4", "FGF19", "FGF21", "FGFR1", "KLB", "THRB", "PNPLA3", "HSD17B13", "TM6SF2", "MBOAT7", "MARC1", "INHBE", "GDF15", "GFRAL", "ACACA", "FASN", "DGAT2", "SCD", "ADRB3", "UCP1", "ALK", "APOE", "APOC3", "ANGPTL3", "BDNF", "NTRK2" ], "lab_verified_anchors": [ "HSD17B13", "APOE", "ANGPTL3" ] }, { "panel_id": "pulmonary_and_renal_fibrosis_and_glomerulopathies", "display_name": "Pulmonary & Renal Fibrosis, Telomeropathies & Glomerulopathies", "clinical_domain": "Pulmonary & Renal Medicine", "primary_bio_suite_pipeline": "chrom-condensate / pan-cryptic", "mechanistic_modality": "Telomere maintenance (TERT/TERC/RTEL1), mucin/surfactant homeostasis (MUC5B/SFTPC) & podocyte/complement nephropathy (APOL1/COL4A3–5)", "gene_count": 31, "genes": [ "MUC5B", "TERT", "TERC", "RTEL1", "PARN", "SFTPC", "SFTPA2", "ABCA3", "TGFB1", "CTGF", "SERPINE1", "LOXL2", "IL11", "NPHS1", "NPHS2", "WT1", "ACTN4", "TRPC6", "INF2", "COL4A3", "COL4A4", "COL4A5", "PKD1", "PKD2", "UMOD", "APOL1", "PLA2R1", "CFH", "CFB", "C3", "C5" ], "lab_verified_anchors": [] }, { "panel_id": "bone_skeletal_and_connective_tissue_homeostasis", "display_name": "Bone, Skeletal & Connective Tissue Homeostasis", "clinical_domain": "Musculoskeletal & Connective Tissue", "primary_bio_suite_pipeline": "pseudo-loss / pan-cryptic", "mechanistic_modality": "Wnt/sclerostin bone anabolism (SOST/LRP5), RANKL-OPG osteoclast axis (TNFSF11) & fibrillar collagen/TGF-beta matrices", "gene_count": 26, "genes": [ "SOST", "TNFSF11", "TNFRSF11A", "TNFRSF11B", "LRP5", "LRP6", "WNT1", "WNT16", "CTSK", "PTH1R", "CASR", "FGF23", "PHEX", "DMP1", "ENPP1", "ALPL", "COL1A1", "COL1A2", "COL3A1", "RUNX2", "FGFR3", "ACVR1", "FBN1", "TGFBR1", "TGFBR2", "SMAD3" ], "lab_verified_anchors": [] }, { "panel_id": "hematology_hemoglobinopathies_and_complement", "display_name": "Hematology, Hemoglobinopathies, Coagulation & Complement", "clinical_domain": "Hematology & Complement Biology", "primary_bio_suite_pipeline": "chrom-condensate / pan-cryptic", "mechanistic_modality": "Subtelomeric alpha/beta-globin & BCL11A fetal hemoglobin switch, myeloproliferative JAK2/CALR & alternative complement (C3/C5/CFB)", "gene_count": 36, "genes": [ "HBB", "HBA1", "HBA2", "BCL11A", "GATA1", "KLF1", "JAK2", "CALR", "MPL", "CSF3R", "EPO", "EPOR", "HFE", "HAMP", "TMPRSS6", "F2", "F5", "F8", "F9", "F10", "F11", "F12", "VWF", "ADAMTS13", "SERPINC1", "PROC", "PROS1", "PIGA", "C3", "C5", "CFB", "CFD", "CFH", "ITGA2B", "ITGB3", "GP1BA" ], "lab_verified_anchors": [ "HBA1", "HBA2" ] }, { "panel_id": "monogenic_rare_diseases_and_ion_transport", "display_name": "Monogenic Rare Diseases, Lysosomal Storage & Ion Transport", "clinical_domain": "Medical Genetics & Rare Diseases", "primary_bio_suite_pipeline": "pan-cryptic / chrom-condensate", "mechanistic_modality": "CFTR chloride channel gating, SMN2 exon 7 splicing, dystrophin (DMD), lysosomal enzymes & repeat-expansion neuropathies", "gene_count": 40, "genes": [ "CFTR", "SMN1", "SMN2", "DMD", "HTT", "FMR1", "MECP2", "UBE3A", "TSC1", "TSC2", "PMP22", "GBA1", "GLA", "GAA", "IDUA", "IDS", "NPC1", "SMPD1", "PAH", "ATP7B", "SERPINA1", "HBB", "BCL11A", "F8", "F9", "TTR", 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"display_name": "Ophthalmology, Macular Degeneration & Retinal Dystrophies", "clinical_domain": "Ophthalmology & Sensory Genetics", "primary_bio_suite_pipeline": "pseudo-loss / coi-barcode", "mechanistic_modality": "Complement factor H/HTRA1 macular degeneration, photoreceptor visual cycle (ABCA4/RPE65/RHO) & mitochondrial LHON (MT-ND4/OPA1)", "gene_count": 21, "genes": [ "CFH", "ARMS2", "HTRA1", "C3", "C2", "CFB", "C5", "ABCA4", "RPE65", "USH2A", "RPGR", "CEP290", "RHO", "VEGFA", "ANGPT2", "MYOC", "OPTN", "LOXL1", "APOE", "OPA1", "MT-ND4" ], "lab_verified_anchors": [ "ABCA4", "APOE" ] }, { "panel_id": "pharmacogenomics_adme_and_toxicity", "display_name": "Pharmacogenomics: Cytochrome P450 ADME, HLA & Drug Toxicity", "clinical_domain": "Pharmacogenomics & Clinical Safety", "primary_bio_suite_pipeline": "pan-cryptic / co-evo", "mechanistic_modality": "CYP2D6/CYP2C19 star-allele metabolizers, DPYD/TPMT/NUDT15 chemotherapy toxicity, SLCO1B1 statin myopathy & MT-RNR1 ototoxicity", 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Neurodegeneration", "Medical Genetics & Rare Diseases" ], "bio_suite_target_class": "Dual/Multi-Pathway Shared Mechanism Locus" }, { "gene_symbol": "HBB", "panel_count": 3, "pleiotropy_entropy_bits": 1.585, "panels": [ "Hematology, Hemoglobinopathies, Coagulation & Complement", "Monogenic Rare Diseases, Lysosomal Storage & Ion Transport", "Infectious Disease Host Entry Factors & Antiviral Innate Immunity" ], "clinical_domains": [ "Hematology & Complement Biology", "Infectious Disease & Host-Pathogen Genetics", "Medical Genetics & Rare Diseases" ], "bio_suite_target_class": "Dual/Multi-Pathway Shared Mechanism Locus" }, { "gene_symbol": "INPP5D", "panel_count": 3, "pleiotropy_entropy_bits": 1.585, "panels": [ "Alzheimer's Disease & Tauopathies", "Neuroinflammation & Microglial Innate Signaling", "Immuno-Oncology, T-Cell Checkpoints & B-Cell Lineage Targets" ], "clinical_domains": [ "Neurology & Immunology", "Neurology & Neurodegeneration", "Oncology & Immunology" ], "bio_suite_target_class": "Dual/Multi-Pathway Shared Mechanism Locus" }, { "gene_symbol": "JAK2", "panel_count": 3, "pleiotropy_entropy_bits": 1.585, "panels": [ "Immuno-Oncology, T-Cell Checkpoints & B-Cell Lineage Targets", "Autoimmune & Autoinflammatory Disorders", "Hematology, Hemoglobinopathies, Coagulation & Complement" ], "clinical_domains": [ "Hematology & Complement Biology", "Immunology & Rheumatology", "Oncology & Immunology" ], "bio_suite_target_class": "Dual/Multi-Pathway Shared Mechanism Locus" }, { "gene_symbol": "NEK1", "panel_count": 3, "pleiotropy_entropy_bits": 1.585, "panels": [ "ALS, Frontotemporal Dementia & Motor Neuron Disease", "Cytoskeletal Dynamics & Axonal Transport", "Oncology: DNA Damage Repair (DDR) & Cell Cycle Checkpoints" ], "clinical_domains": [ "Neurology & Neurodegeneration", "Neurology & Structural Cell Biology", "Oncology & Synthetic Lethality" ], "bio_suite_target_class": "Dual/Multi-Pathway Shared Mechanism Locus" }, { "gene_symbol": "NPC1", "panel_count": 3, "pleiotropy_entropy_bits": 1.585, "panels": [ "Endolysosomal Trafficking, Autophagy & Proteostasis", "Monogenic Rare Diseases, Lysosomal Storage & Ion Transport", "Infectious Disease Host Entry Factors & Antiviral Innate Immunity" ], "clinical_domains": [ "Cell Biology & Neurodegeneration", "Infectious Disease & Host-Pathogen Genetics", "Medical Genetics & Rare Diseases" ], "bio_suite_target_class": "Dual/Multi-Pathway Shared Mechanism Locus" }, { "gene_symbol": "OPRM1", "panel_count": 3, "pleiotropy_entropy_bits": 1.585, "panels": [ "Pain, Migraine & Nociceptive Channelopathies", "Synaptic Transmission, Channelopathies & Ion Flux", "Pharmacogenomics: Cytochrome P450 ADME, HLA & Drug Toxicity" ], "clinical_domains": [ "Neurology & Ion Channelopathies", "Neuropsychiatry & Ion Channelopathies", "Pharmacogenomics & Clinical Safety" ], "bio_suite_target_class": "Dual/Multi-Pathway Shared Mechanism Locus" } ], "top_panel_overlaps": [ { "panel_a": "ALS, Frontotemporal Dementia & Motor Neuron Disease", "panel_b": "RNA Metabolism, Splicing & Tandem Repeat Expansions", "shared_gene_count": 9, "jaccard_similarity": 0.4286, "shared_genes": [ "ATXN2", "C9orf72", "FUS", "HTT", "SMN1", "SMN2", "STMN2", "TARDBP", "UNC13A" ] }, { "panel_a": "Parkinson's Disease & Synucleinopathies", "panel_b": "Endolysosomal Trafficking, Autophagy & Proteostasis", "shared_gene_count": 11, "jaccard_similarity": 0.3548, "shared_genes": [ "CTSB", "CTSD", "GAK", "GBA1", "LRRK2", "PARK7", "PINK1", "PRKN", "TMEM175", "VPS13C", "VPS35" ] }, { "panel_a": "Alzheimer's Disease & Tauopathies", "panel_b": "Amyloid Precursor Processing & Brain Lipid Metabolism", "shared_gene_count": 11, "jaccard_similarity": 0.3056, "shared_genes": [ "ABCA7", "ACE", "ADAM10", "APOE", "APP", "BACE1", "BACE2", "CLU", "PSEN1", "PSEN2", "SORL1" ] }, { "panel_a": "Alzheimer's Disease & Tauopathies", "panel_b": "Neuroinflammation & Microglial Innate Signaling", "shared_gene_count": 14, "jaccard_similarity": 0.2979, "shared_genes": [ "ABCA7", "ABI3", "CD33", "CLU", "CR1", "EPHA1", "GRN", "INPP5D", "MS4A4A", "MS4A6A", "PILRA", "PLCG2", "SPI1", "TREM2" ] }, { "panel_a": "Pain, Migraine & Nociceptive Channelopathies", "panel_b": "Synaptic Transmission, Channelopathies & Ion Flux", "shared_gene_count": 17, "jaccard_similarity": 0.2297, "shared_genes": [ "ATP1A2", "CACNA1A", "COMT", "HTR1F", "KCNK18", "OPRD1", "OPRK1", "OPRM1", "P2RX3", "P2RX7", "SCN10A", "SCN11A", "SCN1A", "SCN9A", "TRPA1", "TRPM8", "TRPV1" ] }, { "panel_a": "ALS, Frontotemporal Dementia & Motor Neuron Disease", "panel_b": "Cytoskeletal Dynamics & Axonal Transport", "shared_gene_count": 5, "jaccard_similarity": 0.2, "shared_genes": [ "HTT", "MAPT", "NEK1", "PMP22", "STMN2" ] }, { "panel_a": "Autism Spectrum & Neurodevelopmental Disorders", "panel_b": "Synaptic Transmission, Channelopathies & Ion Flux", "shared_gene_count": 16, "jaccard_similarity": 0.1882, "shared_genes": [ "CACNA1C", "CACNA1H", "FMR1", "GABRB3", "GRIN2A", "GRIN2B", "KANSL1", "MECP2", "NLGN3", "NLGN4X", "NRXN1", "SCN1A", "SCN2A", "SHANK2", "SHANK3", "SYNGAP1" ] }, { "panel_a": "Asthma, Airway Hyperresponsiveness & Atopy", "panel_b": "Autoimmune & Autoinflammatory Disorders", "shared_gene_count": 11, "jaccard_similarity": 0.1774, "shared_genes": [ "GSDMB", "HLA-DQB1", "HLA-DRB1", "IL13", "IL33", "IL4", "IL4R", "IL5", "ORMDL3", "STAT6", "TSLP" ] }, { "panel_a": "Alzheimer's Disease & Tauopathies", "panel_b": "Cytoskeletal Dynamics & Axonal Transport", "shared_gene_count": 7, "jaccard_similarity": 0.1707, "shared_genes": [ "BIN1", "CASS4", "CD2AP", "EPHA1", "FERMT2", "MAPT", "PTK2B" ] }, { "panel_a": "Schizophrenia & Bipolar Psychosis", "panel_b": "Synaptic Transmission, Channelopathies & Ion Flux", "shared_gene_count": 15, "jaccard_similarity": 0.1685, "shared_genes": [ "ANK3", "BDNF", "CACNA1C", "CACNA1G", "CACNB2", "COMT", "DRD2", "GRIA1", "GRIA3", "GRIN2A", "GRM3", "HTR2A", "NRXN1", "SHANK3", "SYNGAP1" ] }, { "panel_a": "ADHD & Dopaminergic Catecholamine Signaling", "panel_b": "Synaptic Transmission, Channelopathies & Ion Flux", "shared_gene_count": 12, "jaccard_similarity": 0.16, "shared_genes": [ "BDNF", "CHRNA7", "COMT", "DRD2", "DRD4", "DRD5", "HTR1B", "HTR2A", "SLC6A2", "SLC6A3", "SLC6A4", "SNAP25" ] }, { "panel_a": "Depression, Anxiety & Circadian Sleep Regulation", "panel_b": "Synaptic Transmission, Channelopathies & Ion Flux", "shared_gene_count": 13, "jaccard_similarity": 0.1566, "shared_genes": [ "BDNF", "DRD2", "GABRA1", "GABRA2", "GABRB2", "GABRG2", "GRIN2B", "GRM2", "GRM5", "HTR1A", "HTR2A", "HTR2C", "SLC6A4" ] }, { "panel_a": "Alzheimer's Disease & Tauopathies", "panel_b": "Endolysosomal Trafficking, Autophagy & Proteostasis", "shared_gene_count": 8, "jaccard_similarity": 0.1429, "shared_genes": [ "BIN1", "CD2AP", "CTSB", "CTSD", "GRN", "PICALM", "SORL1", "TMEM106B" ] }, { "panel_a": "Autism Spectrum & Neurodevelopmental Disorders", "panel_b": "Oncology: Epigenetics, Chromatin Remodeling & Transcription", "shared_gene_count": 9, "jaccard_similarity": 0.1385, "shared_genes": [ "ADNP", "ARID1B", "CHD8", "KANSL1", "KDM5B", "KMT2A", "KMT5B", "MECP2", "POGZ" ] }, { "panel_a": "ALS, Frontotemporal Dementia & Motor Neuron Disease", "panel_b": "Endolysosomal Trafficking, Autophagy & Proteostasis", "shared_gene_count": 5, "jaccard_similarity": 0.122, "shared_genes": [ "C9orf72", "GRN", "OPTN", "TBK1", "TMEM106B" ] }, { "panel_a": "ADHD & Dopaminergic Catecholamine Signaling", "panel_b": "Depression, Anxiety & Circadian Sleep Regulation", "shared_gene_count": 6, "jaccard_similarity": 0.1176, "shared_genes": [ "BDNF", "DRD2", "HTR2A", "MAOA", "SLC6A4", "TPH2" ] }, { "panel_a": "Cardiovascular Lipid Metabolism, Lipoproteins & Coagulation", "panel_b": "Hematology, Hemoglobinopathies, Coagulation & Complement", "shared_gene_count": 7, "jaccard_similarity": 0.1167, "shared_genes": [ "F10", "F11", "F12", "F2", "F5", "F9", "SERPINC1" ] }, { "panel_a": "Neuroinflammation & Microglial Innate Signaling", "panel_b": "Autoimmune & Autoinflammatory Disorders", "shared_gene_count": 7, "jaccard_similarity": 0.1129, "shared_genes": [ "C4A", "CR1", "IL6", "NLRP3", "P2RX7", "STING1", "TNF" ] }, { "panel_a": "Pulmonary & Renal Fibrosis, Telomeropathies & Glomerulopathies", "panel_b": "Monogenic Rare Diseases, Lysosomal Storage & Ion Transport", "shared_gene_count": 7, "jaccard_similarity": 0.1094, "shared_genes": [ "APOL1", "COL4A3", "COL4A4", "COL4A5", "PKD1", "PKD2", "UMOD" ] }, { "panel_a": "RNA Metabolism, Splicing & Tandem Repeat Expansions", "panel_b": "Monogenic Rare Diseases, Lysosomal Storage & Ion Transport", "shared_gene_count": 5, "jaccard_similarity": 0.1042, "shared_genes": [ "FMR1", "FXN", "HTT", "SMN1", "SMN2" ] }, { "panel_a": "Amyloid Precursor Processing & Brain Lipid Metabolism", "panel_b": "Cardiovascular Lipid Metabolism, Lipoproteins & Coagulation", "shared_gene_count": 4, "jaccard_similarity": 0.1026, "shared_genes": [ "ABCA7", "ACE", "APOE", "CLU" ] }, { "panel_a": "Bone, Skeletal & Connective Tissue Homeostasis", "panel_b": "Monogenic Rare Diseases, Lysosomal Storage & Ion Transport", "shared_gene_count": 6, "jaccard_similarity": 0.1, "shared_genes": [ "ACVR1", "COL1A1", "COL1A2", "COL3A1", "FBN1", "FGFR3" ] }, { "panel_a": "Endolysosomal Trafficking, Autophagy & Proteostasis", "panel_b": "Monogenic Rare Diseases, Lysosomal Storage & Ion Transport", "shared_gene_count": 6, "jaccard_similarity": 0.0952, "shared_genes": [ "GAA", "GBA1", "GLA", "NPC1", "SMPD1", "UBE3A" ] }, { "panel_a": "Autism Spectrum & Neurodevelopmental Disorders", "panel_b": "Monogenic Rare Diseases, Lysosomal Storage & Ion Transport", "shared_gene_count": 6, "jaccard_similarity": 0.0833, "shared_genes": [ "BCL11A", "FMR1", "MECP2", "TSC1", "TSC2", "UBE3A" ] }, { "panel_a": "Oncology: DNA Damage Repair (DDR) & Cell Cycle Checkpoints", "panel_b": "Oncology: Hormone Receptors, Hypoxia & Metabolic Synthetic Lethality", "shared_gene_count": 5, "jaccard_similarity": 0.0833, "shared_genes": [ "CHEK1", "POLQ", "USP1", "WEE1", "WRN" ] } ] }