Table 1.

Twenty candidate risk genes for stenosis of the proximal airway. Results of Online Mendelian Inheritance in Man (OMIM) database search for following phenotypic terms: “subglottic stenosis,” “tracheal stenosis,” and “laryngotracheal stenosis.”

Gene	Gene/Locus Name	MIM ID	Location	Phenotype	Inheritance	PMID
AFF4	AF4/FMR2 family, member 4	604417	5q31.1	CHOPS syndrome	AD	31058441
ELN	Elastin	130160	7q11.23	Cutis laxa, autosomal dominant	AD	9873040
FGFR1	Fibroblast growth factor receptor-1	136350	8p11.23	Pfeiffer syndrome	AD	2208766
FGFR2	Fibroblast growth factor receptor-2	176943	10q26.13	Apert syndrome	AD	1519659
FLNB	Filamin B	603381	3p14.3	Larsen syndrome	AD	9185735
GMNN	Geminin DNA replication inhibitor	602842	6p22.3	Meier-Gorlin syndrome 6	AD	26637980
LTBP3	Latent TGFB binding protein-3	602090	11q13.1	Geleophysic dysplasia 3	AD	27068007
MAP3K7	MAPK kinase 7	602614	6q15	Frontometaphyseal dysplasia 2	AD	28498505
SMAD4	SMAD family member 4	600993	18q21.2	Myhre syndrome	AD	31539271
TBX3	T-box 3	601621	12q24.21	Ulnar-mammary syndrome	AD	3430557
ZEB2	Zinc finger E box-binding homeobox 2	605802	2q22.3	Mowat-Wilson syndrome	AD	17567886
ADAMTSL2	ADAMTS-like protein 2	612277	9q34.2	Geleophysic dysplasia 1	AR	33082559
EFL1	Elongation factor-like GTPase 1	617538	15q25.2	Shwachman-Diamond syndrome 2	AR	28331068
HYLS1	HYLS1 gene	610693	11q24.2	Hydrolethalus syndrome	AR	7028327
IDUA	Iduronidase, alpha-L	252800	4p16.3	Mucopolysaccharidosis Ih	AR	24767144
PISD	Phosphatidylserine decarboxylase	612770	22q12.2	Liberfarb syndrome	AR	30858161
SNIP1	SMAD nuclear interacting protein 1	608241	1p34.3	Craniofacial dysmorphism	AR	34570759
TONSL	Tonsoku-like DNA repair protein	604546	8q24.3	Spondyloepimetaphyseal dysplasia	AR	30773277
EBP	Emopamil-binding protein	300205	Xp11.23	Chondrodysplasia punctata	XLD	21634086
FLNA	Filamin A, alpha	300017	Xq28	Melnick-Needles syndrome	XLD	16835913