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. Author manuscript; available in PMC: 2022 Sep 18.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2022 Apr 28;23:383–412. doi: 10.1146/annurev-genom-120121-102607

Figure 1.

Figure 1

Genes and pathways mutated in rare craniofacial disorders with Mendelian inheritance. The genes were identified by curating hits for the search term craniofacial from the OMIM database, which were then organized into broad functional categories based partly on their PANTHER protein classes. Associations with GWASs were defined by aggregating the candidate genes and loci from studies listed in Table 1. Genes that cause craniofacial phenotypes when mutated in mice (red) were found by querying the Mouse Phenome Database. Blue shading indicates genes that GWASs have implicated in facial shape or nsCL/P. Abbreviations: GWAS, genome-wide association study; nsCL/P, nonsyndromic cleft lip with or without cleft palate; OMIM, Online Mendelian Inheritance in Man; PANTHER, Protein Annotation Through Evolutionary Relationship.