Table 1.
Distribution of URDVs and genes in five biological ontology groups among MMC subjects.
| Categories | EA | MA | ||||||
|---|---|---|---|---|---|---|---|---|
| #URDV | #gene | #URDV/ gene | #subjects | #URDV | #gene | #URDV/ gene | Ð#subjects | |
| Cilium | 63 (20.3%) | 35 (17.2%) | 1.80 | 54 (21.3%) | 53 (16.1%) | 33 (16.3%) | 1.61 | 49 (19.4%) |
| Cytoskeleton | 72 (23.2% | 42 (20.6%) | 1.71 | 61 (24.0%) | 76 (23.0%) | 48 (23.6%) | 1.58 | 65 (25.8%) |
| ECM | 46 (14.8%) | 22 (10.8%) | 2.09 | 40 (15.7%) | 38 (11.5%) | 16 (7.9%) | 2.38 | 35 (13.9%) |
| WNT-signaling | 44 (14.1%) | 31 (15.2%) | 1.42 | 41 (16.1%) | 51 (15.5%) | 32 (15.8%) | 1.59 | 46 (18.3%) |
| Cell migration | 77 (24.8%) | 52 (25.5%) | 1.48 | 70 (27.6%) | 66 (20.0%) | 44 (21.7%) | 1.50 | 55 (21.8%) |
| Unique subtotal | 185 (59.4%) | 113 (55.4%) | 1.63 | 128 (50.4%) | 181 (54.8%) | 110 (54.2%) | 1.65 | 125 (49.6%) |
| Other ontologies | 125 (40.6%) | 89 (44.1%) | 1.36 | 48 (18.9%) | 150 (45.2%) | 93 (45.8%) | 1.61 | 60 (23.8%) |
| No URDVs | – | – | – | 78 (30.7%) | – | – | – | 67 (26.6%) |
| Total | 310 | 202 | 1.56 | 254 | 331 | 203 | 1.63 | 252 |
Note. Count of URDV, or neural tube defect candidate gene, or subjects with myelomeningocele are shown with the percentage to the total count of each column in bracket. Some genes are classified to more than one category. Count of URDVs, or gene or individual are presented follow by the percentage of the count presented in bracket. Some genes can be assigned to more than one ontology categories. A unique subtotal count shows the subtotal number of the URDV, or gene, or subject without double counting when a gene has multiple ontology groups assigned. Not in above – represent URDVs, genes or subjects outside the five ontologies. URDV—ultra-rare deleterious variant, EA—European American subject, MA—Mexican American subject. ECM – extracellular matrix.