{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Although none of the studies focused on C1orf74 as a primary disease‐causing gene, the collective evidence from these investigations suggests that its role in the reported disorders appears to be minimal. In the study of Van der Woude syndrome, for example, a deletion in the 1q32.2 region encompassed several genes in addition to the well‐established IRF6, yet no additional phenotype was observed. This finding implies that genes in the deleted interval—including C1orf74—may be insensitive to copy number variations or haploinsufficiency (1). Similarly, in a transcriptomic analysis of myasthenia gravis, although distinct dysregulated long non‐coding RNAs and mRNA networks were identified, C1orf74 was not highlighted as a key functional player, suggesting that it does not contribute significantly to the aberrant molecular processes underlying the disease (2). In an integrative multi‐omics study focused on cleft lip with or without cleft palate, while several novel candidate genes were discovered through network analyses, C1orf74 was not underscored as one of the prominent candidates driving the phenotype (3). Finally, in a genome‐wide association study of fasting plasma glucose levels in a Chinese twin cohort, although numerous genetic variants in functional regions were implicated in glucose homeostasis and diabetes risk, C1orf74 did not emerge as a notable contributor (4). Collectively, these findings indicate that although C1orf74 may be present within regions of genomic interest in diverse clinical contexts, its functional contribution to the respective phenotypes appears to be subtle or secondary.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Citations:."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ene-Choo Tan, Eileen Cp Lim, Seng-Teik Lee "}, {"type": "b", "children": [{"type": "t", "text": "De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cytogenet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1755-8166-6-31"}], "href": "https://doi.org/10.1186/1755-8166-6-31"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23915469"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23915469"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "ZhaoHui Luo, Ye Li, XiaoFang Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systems biology of myasthenia gravis, integration of aberrant lncRNA and mRNA expression changes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12920-015-0087-z"}], "href": "https://doi.org/10.1186/s12920-015-0087-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25889429"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25889429"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Fangfang Yan, Yulin Dai, Junichi Iwata, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12920-020-0675-4"}], "href": "https://doi.org/10.1186/s12920-020-0675-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32241273"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32241273"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Weijing Wang, Caixia Zhang, Hui Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heritability and genome-wide association analyses of fasting plasma glucose in Chinese adult twins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12864-020-06898-z"}], "href": "https://doi.org/10.1186/s12864-020-06898-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32682390"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32682390"}]}]}]}