{"gene":"MDFIC","run_date":"2026-06-10T02:59:50","timeline":{"discoveries":[{"year":1995,"finding":"HIC-1 (MDFIC alias context: this paper is about HIC-1/MDFIC locus at 17p13.3) is transcriptionally activated by wild-type p53 via a p53 binding site in its 5' flanking region, and forced expression of HIC-1 suppresses G418 selectability (colony formation) of brain, breast, and colon cancer cells, establishing it as a p53-regulated candidate tumor suppressor.","method":"Reporter/expression assays with wild-type p53 transfection; colony suppression assay in cancer cell lines","journal":"Nature medicine","confidence":"Medium","confidence_rationale":"Tier 2 / Moderate — functional p53-binding site identified, p53 activation demonstrated, colony suppression shown; single lab but multiple orthogonal methods","pmids":["7585125"],"is_preprint":false},{"year":2006,"finding":"The HIC gene (MDFIC; alias MyoD family inhibitor domain containing) maps to chromosome 7q31.1 within a minimal region of loss in myeloid neoplasms, but mutation screening of the coding region and intron-exon boundaries in 15 patients with chromosome 7 deletions found no mutations in MDFIC, suggesting loss of function occurs by deletion rather than point mutation.","method":"Microsatellite mapping; mutation screening by sequencing of coding regions","journal":"Leukemia research","confidence":"Low","confidence_rationale":"Tier 3 / Weak — single lab, single method, negative result for mutation (deletion mechanism inferred)","pmids":["17064770"],"is_preprint":false},{"year":2020,"finding":"MDFIC interacts with the histone demethylase JMJD1A, inhibits growth of HCT116 colorectal cancer cells, and stimulates transcription of the HIC1 tumor suppressor gene; MDFIC overexpression phenocopies HIC1-mediated growth suppression, defining a MDFIC→HIC1 tumor-suppressive axis in colorectal cancer.","method":"Co-immunoprecipitation (interaction with JMJD1A); cell growth assays (overexpression/knockdown); gene expression analysis","journal":"Scientific reports","confidence":"Medium","confidence_rationale":"Tier 2-3 / Moderate — Co-IP for interaction, multiple functional readouts (growth, gene expression), single lab","pmids":["32457453"],"is_preprint":false},{"year":2022,"finding":"Biallelic pathogenic variants in MDFIC cause central conducting lymphatic anomaly (CCLA) with chylothorax and lymphedema in humans and mice. In a mouse model of human MDFIC truncation variants, homozygous mutants die perinatally with chylothorax and profoundly mispatterned lymphatic vasculature with major defects in lymphatic vessel valve development. Mechanistically, MDFIC controls collective cell migration during lymphatic valve formation by regulating integrin β1 activation and the interaction between lymphatic endothelial cells and their extracellular matrix.","method":"Human genetic mapping (biallelic variants in 7 individuals); mouse truncation knock-in model (perinatal lethality, lymphatic patterning defects); integrin β1 activation assays; cell-ECM interaction assays","journal":"Science translational medicine","confidence":"High","confidence_rationale":"Tier 2 / Strong — human genetics plus mouse model plus cellular mechanism (integrin β1, ECM interaction), multiple orthogonal methods, independently corroborated by human and mouse data","pmids":["35235341"],"is_preprint":false},{"year":2019,"finding":"miR-146b-3p directly targets MDFIC (confirmed by dual luciferase reporter assay), and MDFIC knockdown suppresses proliferation and differentiation while promoting apoptosis of chicken myoblasts, indicating MDFIC promotes myoblast proliferation and survival via the PI3K/AKT pathway.","method":"Dual luciferase reporter assay (miRNA target validation); siRNA knockdown; proliferation, differentiation, and apoptosis assays in chicken myoblasts","journal":"Cells","confidence":"Medium","confidence_rationale":"Tier 2-3 / Moderate — luciferase validation of direct targeting plus functional knockdown phenotype; single lab, ortholog (chicken) context","pmids":["31261950"],"is_preprint":false},{"year":2016,"finding":"gga-miR-130a directly targets MDFIC (chicken ortholog) as confirmed by dual luciferase reporter assay and western blot (protein but not mRNA level regulation), and both MDFIC and HOXA3 are involved in regulating MDV-transformed lymphoid cell proliferation.","method":"Dual luciferase reporter assay; western blot; qRT-PCR; proliferation and migration assays","journal":"Molecular biology reports","confidence":"Low","confidence_rationale":"Tier 3 / Weak — single lab, miRNA target validation for chicken MDFIC; functional consequence for proliferation shown but pathway mechanism not defined","pmids":["27178573"],"is_preprint":false}],"current_model":"MDFIC (HIC/MDFIC1) is a MyoD family inhibitor domain-containing protein that plays a critical role in lymphatic vascular development by regulating integrin β1 activation and lymphatic endothelial cell collective migration during valve formation; biallelic loss-of-function variants cause central conducting lymphatic anomaly in humans and mice. MDFIC also interacts with the histone demethylase JMJD1A and activates HIC1 tumor suppressor transcription to suppress colorectal cancer cell growth, and in muscle cells it promotes myoblast proliferation and differentiation through the PI3K/AKT pathway."},"narrative":{"mechanistic_narrative":"MDFIC is a MyoD family inhibitor domain-containing protein with roles spanning lymphatic vascular morphogenesis, transcriptional control of tumor suppression, and myogenic cell behavior [PMID:35235341, PMID:32457453, PMID:31261950]. Its best-defined function is in lymphatic development: biallelic loss-of-function variants cause central conducting lymphatic anomaly with chylothorax and lymphedema in humans, and a mouse truncation knock-in recapitulates perinatal lethality with mispatterned lymphatic vasculature and defective valve formation; mechanistically MDFIC governs collective endothelial cell migration during valve morphogenesis by regulating integrin β1 activation and lymphatic endothelial cell–extracellular matrix interaction [PMID:35235341]. In a transcriptional role, MDFIC physically associates with the histone demethylase JMJD1A and stimulates transcription of the HIC1 tumor suppressor, an axis that suppresses growth of colorectal cancer cells [PMID:32457453]. Independent work places MDFIC as a positive regulator of myoblast proliferation, survival, and differentiation downstream of the PI3K/AKT pathway, with its expression controlled by targeting miRNAs [PMID:31261950]. How these distinct activities are unified at the molecular level has not been characterized in the available corpus.","teleology":[{"year":1995,"claim":"Established the HIC-1/MDFIC locus as a p53-responsive candidate tumor suppressor, linking it to growth control via a defined regulatory input.","evidence":"p53 co-transfection reporter assays and colony suppression in brain, breast, and colon cancer lines","pmids":["7585125"],"confidence":"Medium","gaps":["Did not define the protein's molecular activity or partners","Colony suppression mechanism not resolved at the pathway level"]},{"year":2006,"claim":"Tested whether MDFIC is inactivated by point mutation in myeloid neoplasms with chromosome 7 loss, showing loss occurs by deletion rather than coding mutation.","evidence":"Microsatellite mapping and coding-region mutation screening in 15 patients with chromosome 7 deletions","pmids":["17064770"],"confidence":"Low","gaps":["Negative mutation result; haploinsufficiency role not functionally demonstrated","Small patient cohort, single method"]},{"year":2016,"claim":"Identified post-transcriptional control of MDFIC by a miRNA and a link to transformed lymphoid cell proliferation, beginning to place MDFIC in proliferation regulation.","evidence":"Dual luciferase reporter, western blot, and proliferation assays for gga-miR-130a targeting chicken MDFIC","pmids":["27178573"],"confidence":"Low","gaps":["Single lab, chicken ortholog; downstream pathway mechanism not defined","Direct molecular function of MDFIC not addressed"]},{"year":2019,"claim":"Placed MDFIC as a positive regulator of myoblast proliferation, survival, and differentiation through the PI3K/AKT pathway, and confirmed miRNA-mediated repression.","evidence":"miR-146b-3p luciferase target validation plus siRNA knockdown with proliferation, differentiation, and apoptosis assays in chicken myoblasts","pmids":["31261950"],"confidence":"Medium","gaps":["Mechanistic connection from MDFIC to PI3K/AKT not defined","Chicken ortholog context; human relevance not directly tested"]},{"year":2020,"claim":"Defined a transcriptional mechanism for MDFIC tumor suppression by linking it physically to JMJD1A and functionally to HIC1 activation.","evidence":"Co-immunoprecipitation with JMJD1A and overexpression/knockdown growth and gene-expression assays in HCT116 colorectal cancer cells","pmids":["32457453"],"confidence":"Medium","gaps":["Single Co-IP without structural or reciprocal partner mapping","Direct DNA-binding versus cofactor role at the HIC1 promoter not resolved"]},{"year":2022,"claim":"Established MDFIC as a disease gene for central conducting lymphatic anomaly and defined its cellular mechanism in lymphatic valve morphogenesis.","evidence":"Human biallelic-variant mapping in 7 individuals, mouse truncation knock-in, and integrin β1 activation and cell-ECM interaction assays","pmids":["35235341"],"confidence":"High","gaps":["Direct molecular link between MDFIC and integrin β1 activation not biochemically resolved","How MDFIC's transcriptional and lymphatic functions relate is unknown"]},{"year":null,"claim":"The unifying molecular activity of MDFIC that connects its lymphatic-developmental, transcriptional, and myogenic roles remains undefined.","evidence":"","pmids":[],"confidence":"Medium","gaps":["No structural model or defined enzymatic/binding activity in the corpus","Whether one molecular function underlies all reported phenotypes is unresolved"]}],"mechanism_profile":{"molecular_activity":[{"term_id":"GO:0140110","term_label":"transcription regulator activity","supporting_discovery_ids":[2]}],"localization":[],"pathway":[{"term_id":"R-HSA-1266738","term_label":"Developmental Biology","supporting_discovery_ids":[3]},{"term_id":"R-HSA-74160","term_label":"Gene expression (Transcription)","supporting_discovery_ids":[2]}],"complexes":[],"partners":["JMJD1A"],"other_free_text":[]}},"prefetch_data":{"uniprot":{"accession":"Q9P1T7","full_name":"MyoD family inhibitor domain-containing protein","aliases":["I-mfa domain-containing protein","hIC"],"length_aa":246,"mass_kda":25.8,"function":"Required to control the activity of various transcription factors through their sequestration in the cytoplasm. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm and inhibits their transcriptional activation (By similarity). Modulates the expression from cellular promoters. Binds to the axin complex, resulting in an increase in the level of free beta-catenin (PubMed:12192039). Affects axin regulation of the WNT and JNK signaling pathways (PubMed:12192039). Involved in the development of lymphatic vessel valves (By similarity). Required to promote lymphatic endothelial cell migration, in a process that involves down-regulation of integrin beta 1 activation and control of cell adhesion to the extracellular matrix (PubMed:35235341). Regulates the activity of mechanosensitive Piezo channel (PubMed:37590348) (Microbial infection) Modulates the expression from viral promoters. Down-regulates Tat-dependent transcription of the human immunodeficiency virus type 1 (HIV-1) LTR by interacting with HIV-1 Tat and Rev and impairing their nuclear import, probably by rendering the NLS domains inaccessible to importin-beta (PubMed:12944466, PubMed:16260749, Ref.6). Also stimulates activation of human T-cell leukemia virus type I (HTLV-I) LTR (PubMed:10671520)","subcellular_location":"Cytoplasm; Secreted","url":"https://www.uniprot.org/uniprotkb/Q9P1T7/entry"},"depmap":{"release":"DepMap","has_data":true,"is_common_essential":false,"resolved_as":"","url":"https://depmap.org/portal/gene/MDFIC","classification":"Not Classified","n_dependent_lines":1,"n_total_lines":1208,"dependency_fraction":0.0008278145695364238},"opencell":{"profiled":false,"resolved_as":"","ensg_id":"","cell_line_id":"","localizations":[],"interactors":[],"url":"https://opencell.sf.czbiohub.org/search/MDFIC","total_profiled":1310},"omim":[{"mim_id":"620014","title":"LYMPHATIC MALFORMATION 12; LMPHM12","url":"https://www.omim.org/entry/620014"},{"mim_id":"614511","title":"MYOD FAMILY INHIBITOR DOMAIN-CONTAINING PROTEIN; MDFIC","url":"https://www.omim.org/entry/614511"},{"mim_id":"605317","title":"FORKHEAD BOX P2; FOXP2","url":"https://www.omim.org/entry/605317"},{"mim_id":"602081","title":"SPEECH-LANGUAGE DISORDER 1; SPCH1","url":"https://www.omim.org/entry/602081"},{"mim_id":"153100","title":"LYMPHATIC MALFORMATION 1; LMPHM1","url":"https://www.omim.org/entry/153100"}],"hpa":{"profiled":true,"resolved_as":"","reliability":"Supported","locations":[{"location":"Nucleoplasm","reliability":"Supported"},{"location":"Golgi apparatus","reliability":"Supported"}],"tissue_specificity":"Low tissue specificity","tissue_distribution":"Detected in all","driving_tissues":[],"url":"https://www.proteinatlas.org/search/MDFIC"},"hgnc":{"alias_symbol":["HIC","MDFIC1"],"prev_symbol":[]},"alphafold":{"accession":"Q9P1T7","domains":[{"cath_id":"1.20.5","chopping":"164-190_223-241","consensus_level":"medium","plddt":69.8796,"start":164,"end":241}],"viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9P1T7","model_url":"https://alphafold.ebi.ac.uk/files/AF-Q9P1T7-F1-model_v6.cif","pae_url":"https://alphafold.ebi.ac.uk/files/AF-Q9P1T7-F1-predicted_aligned_error_v6.png","plddt_mean":52.91},"mouse_models":{"mgi_url":"https://www.informatics.jax.org/marker/summary?nomen=MDFIC","jax_strain_url":"https://www.jax.org/strain/search?query=MDFIC"},"sequence":{"accession":"Q9P1T7","fasta_url":"https://rest.uniprot.org/uniprotkb/Q9P1T7.fasta","uniprot_url":"https://www.uniprot.org/uniprotkb/Q9P1T7/entry","alphafold_viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9P1T7"}},"corpus_meta":[{"pmid":"36525368","id":"PMC_36525368","title":"YaHS: yet another Hi-C 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colony suppression assay in cancer cell lines\",\n      \"journal\": \"Nature medicine\",\n      \"confidence\": \"Medium\",\n      \"confidence_rationale\": \"Tier 2 / Moderate — functional p53-binding site identified, p53 activation demonstrated, colony suppression shown; single lab but multiple orthogonal methods\",\n      \"pmids\": [\"7585125\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2006,\n      \"finding\": \"The HIC gene (MDFIC; alias MyoD family inhibitor domain containing) maps to chromosome 7q31.1 within a minimal region of loss in myeloid neoplasms, but mutation screening of the coding region and intron-exon boundaries in 15 patients with chromosome 7 deletions found no mutations in MDFIC, suggesting loss of function occurs by deletion rather than point mutation.\",\n      \"method\": \"Microsatellite mapping; mutation screening by sequencing of coding regions\",\n      \"journal\": \"Leukemia research\",\n      \"confidence\": \"Low\",\n      \"confidence_rationale\": \"Tier 3 / Weak — single lab, single method, negative result for mutation (deletion mechanism inferred)\",\n      \"pmids\": [\"17064770\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2020,\n      \"finding\": \"MDFIC interacts with the histone demethylase JMJD1A, inhibits growth of HCT116 colorectal cancer cells, and stimulates transcription of the HIC1 tumor suppressor gene; MDFIC overexpression phenocopies HIC1-mediated growth suppression, defining a MDFIC→HIC1 tumor-suppressive axis in colorectal cancer.\",\n      \"method\": \"Co-immunoprecipitation (interaction with JMJD1A); cell growth assays (overexpression/knockdown); gene expression analysis\",\n      \"journal\": \"Scientific reports\",\n      \"confidence\": \"Medium\",\n      \"confidence_rationale\": \"Tier 2-3 / Moderate — Co-IP for interaction, multiple functional readouts (growth, gene expression), single lab\",\n      \"pmids\": [\"32457453\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2022,\n      \"finding\": \"Biallelic pathogenic variants in MDFIC cause central conducting lymphatic anomaly (CCLA) with chylothorax and lymphedema in humans and mice. In a mouse model of human MDFIC truncation variants, homozygous mutants die perinatally with chylothorax and profoundly mispatterned lymphatic vasculature with major defects in lymphatic vessel valve development. Mechanistically, MDFIC controls collective cell migration during lymphatic valve formation by regulating integrin β1 activation and the interaction between lymphatic endothelial cells and their extracellular matrix.\",\n      \"method\": \"Human genetic mapping (biallelic variants in 7 individuals); mouse truncation knock-in model (perinatal lethality, lymphatic patterning defects); integrin β1 activation assays; cell-ECM interaction assays\",\n      \"journal\": \"Science translational medicine\",\n      \"confidence\": \"High\",\n      \"confidence_rationale\": \"Tier 2 / Strong — human genetics plus mouse model plus cellular mechanism (integrin β1, ECM interaction), multiple orthogonal methods, independently corroborated by human and mouse data\",\n      \"pmids\": [\"35235341\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2019,\n      \"finding\": \"miR-146b-3p directly targets MDFIC (confirmed by dual luciferase reporter assay), and MDFIC knockdown suppresses proliferation and differentiation while promoting apoptosis of chicken myoblasts, indicating MDFIC promotes myoblast proliferation and survival via the PI3K/AKT pathway.\",\n      \"method\": \"Dual luciferase reporter assay (miRNA target validation); siRNA knockdown; proliferation, differentiation, and apoptosis assays in chicken myoblasts\",\n      \"journal\": \"Cells\",\n      \"confidence\": \"Medium\",\n      \"confidence_rationale\": \"Tier 2-3 / Moderate — luciferase validation of direct targeting plus functional knockdown phenotype; single lab, ortholog (chicken) context\",\n      \"pmids\": [\"31261950\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2016,\n      \"finding\": \"gga-miR-130a directly targets MDFIC (chicken ortholog) as confirmed by dual luciferase reporter assay and western blot (protein but not mRNA level regulation), and both MDFIC and HOXA3 are involved in regulating MDV-transformed lymphoid cell proliferation.\",\n      \"method\": \"Dual luciferase reporter assay; western blot; qRT-PCR; proliferation and migration assays\",\n      \"journal\": \"Molecular biology reports\",\n      \"confidence\": \"Low\",\n      \"confidence_rationale\": \"Tier 3 / Weak — single lab, miRNA target validation for chicken MDFIC; functional consequence for proliferation shown but pathway mechanism not defined\",\n      \"pmids\": [\"27178573\"],\n      \"is_preprint\": false\n    }\n  ],\n  \"current_model\": \"MDFIC (HIC/MDFIC1) is a MyoD family inhibitor domain-containing protein that plays a critical role in lymphatic vascular development by regulating integrin β1 activation and lymphatic endothelial cell collective migration during valve formation; biallelic loss-of-function variants cause central conducting lymphatic anomaly in humans and mice. MDFIC also interacts with the histone demethylase JMJD1A and activates HIC1 tumor suppressor transcription to suppress colorectal cancer cell growth, and in muscle cells it promotes myoblast proliferation and differentiation through the PI3K/AKT pathway.\"\n}\n```","stage2_raw":"{\n  \"mechanistic_narrative\": \"MDFIC is a MyoD family inhibitor domain-containing protein with roles spanning lymphatic vascular morphogenesis, transcriptional control of tumor suppression, and myogenic cell behavior [#3, #2, #4]. Its best-defined function is in lymphatic development: biallelic loss-of-function variants cause central conducting lymphatic anomaly with chylothorax and lymphedema in humans, and a mouse truncation knock-in recapitulates perinatal lethality with mispatterned lymphatic vasculature and defective valve formation; mechanistically MDFIC governs collective endothelial cell migration during valve morphogenesis by regulating integrin \\u03b21 activation and lymphatic endothelial cell\\u2013extracellular matrix interaction [#3]. In a transcriptional role, MDFIC physically associates with the histone demethylase JMJD1A and stimulates transcription of the HIC1 tumor suppressor, an axis that suppresses growth of colorectal cancer cells [#2]. Independent work places MDFIC as a positive regulator of myoblast proliferation, survival, and differentiation downstream of the PI3K/AKT pathway, with its expression controlled by targeting miRNAs [#4]. How these distinct activities are unified at the molecular level has not been characterized in the available corpus.\",\n  \"teleology\": [\n    {\n      \"year\": 1995,\n      \"claim\": \"Established the HIC-1/MDFIC locus as a p53-responsive candidate tumor suppressor, linking it to growth control via a defined regulatory input.\",\n      \"evidence\": \"p53 co-transfection reporter assays and colony suppression in brain, breast, and colon cancer lines\",\n      \"pmids\": [\"7585125\"],\n      \"confidence\": \"Medium\",\n      \"gaps\": [\n        \"Did not define the protein's molecular activity or partners\",\n        \"Colony suppression mechanism not resolved at the pathway level\"\n      ]\n    },\n    {\n      \"year\": 2006,\n      \"claim\": \"Tested whether MDFIC is inactivated by point mutation in myeloid neoplasms with chromosome 7 loss, showing loss occurs by deletion rather than coding mutation.\",\n      \"evidence\": \"Microsatellite mapping and coding-region mutation screening in 15 patients with chromosome 7 deletions\",\n      \"pmids\": [\"17064770\"],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"Negative mutation result; haploinsufficiency role not functionally demonstrated\",\n        \"Small patient cohort, single method\"\n      ]\n    },\n    {\n      \"year\": 2016,\n      \"claim\": \"Identified post-transcriptional control of MDFIC by a miRNA and a link to transformed lymphoid cell proliferation, beginning to place MDFIC in proliferation regulation.\",\n      \"evidence\": \"Dual luciferase reporter, western blot, and proliferation assays for gga-miR-130a targeting chicken MDFIC\",\n      \"pmids\": [\"27178573\"],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"Single lab, chicken ortholog; downstream pathway mechanism not defined\",\n        \"Direct molecular function of MDFIC not addressed\"\n      ]\n    },\n    {\n      \"year\": 2019,\n      \"claim\": \"Placed MDFIC as a positive regulator of myoblast proliferation, survival, and differentiation through the PI3K/AKT pathway, and confirmed miRNA-mediated repression.\",\n      \"evidence\": \"miR-146b-3p luciferase target validation plus siRNA knockdown with proliferation, differentiation, and apoptosis assays in chicken myoblasts\",\n      \"pmids\": [\"31261950\"],\n      \"confidence\": \"Medium\",\n      \"gaps\": [\n        \"Mechanistic connection from MDFIC to PI3K/AKT not defined\",\n        \"Chicken ortholog context; human relevance not directly tested\"\n      ]\n    },\n    {\n      \"year\": 2020,\n      \"claim\": \"Defined a transcriptional mechanism for MDFIC tumor suppression by linking it physically to JMJD1A and functionally to HIC1 activation.\",\n      \"evidence\": \"Co-immunoprecipitation with JMJD1A and overexpression/knockdown growth and gene-expression assays in HCT116 colorectal cancer cells\",\n      \"pmids\": [\"32457453\"],\n      \"confidence\": \"Medium\",\n      \"gaps\": [\n        \"Single Co-IP without structural or reciprocal partner mapping\",\n        \"Direct DNA-binding versus cofactor role at the HIC1 promoter not resolved\"\n      ]\n    },\n    {\n      \"year\": 2022,\n      \"claim\": \"Established MDFIC as a disease gene for central conducting lymphatic anomaly and defined its cellular mechanism in lymphatic valve morphogenesis.\",\n      \"evidence\": \"Human biallelic-variant mapping in 7 individuals, mouse truncation knock-in, and integrin \\u03b21 activation and cell-ECM interaction assays\",\n      \"pmids\": [\"35235341\"],\n      \"confidence\": \"High\",\n      \"gaps\": [\n        \"Direct molecular link between MDFIC and integrin \\u03b21 activation not biochemically resolved\",\n        \"How MDFIC's transcriptional and lymphatic functions relate is unknown\"\n      ]\n    },\n    {\n      \"year\": null,\n      \"claim\": \"The unifying molecular activity of MDFIC that connects its lymphatic-developmental, transcriptional, and myogenic roles remains undefined.\",\n      \"evidence\": \"\",\n      \"pmids\": [],\n      \"confidence\": \"Medium\",\n      \"gaps\": [\n        \"No structural model or defined enzymatic/binding activity in the corpus\",\n        \"Whether one molecular function underlies all reported phenotypes is unresolved\"\n      ]\n    }\n  ],\n  \"mechanism_profile\": {\n    \"molecular_activity\": [\n      {\"term_id\": \"GO:0140110\", \"supporting_discovery_ids\": [2]}\n    ],\n    \"localization\": [],\n    \"pathway\": [\n      {\"term_id\": \"R-HSA-1266738\", \"supporting_discovery_ids\": [3]},\n      {\"term_id\": \"R-HSA-74160\", \"supporting_discovery_ids\": [2]}\n    ],\n    \"complexes\": [],\n    \"partners\": [\"JMJD1A\"],\n    \"other_free_text\": []\n  }\n}","audit_flag":null,"evaluation":{"pairwise":"win","faith_supported":4,"faith_total":4,"faith_pct":100.0}}