Elig.phs000482.v1.p1.1
Item
Trios (Father, Mother, and Proband) (n=189)
boolean
C0026591 (UMLS CUI [1,1])
C0015671 (UMLS CUI [1,2])
C1948021 (UMLS CUI [1,3])
Elig.phs000482.v1.p1.2
Item
Exclusions:
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000482.v1.p1.3
Item
Known large CNVs as identified in Sanders et al., 2011. [PMID: 21658581]
boolean
C0680251 (UMLS CUI [1,1])
C1511518 (UMLS CUI [1,2])
Elig.phs000482.v1.p1.4
Item
Included:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000482.v1.p1.5
Item
86 males affected with ASD but not intellectual disability
boolean
C1512693 (UMLS CUI [1,1])
C0086582 (UMLS CUI [1,2])
C1510586 (UMLS CUI [1,3])
C1298908 (UMLS CUI [1,4])
C3714756 (UMLS CUI [1,5])
Elig.phs000482.v1.p1.6
Item
47 males affected with ASD and intellectual disability
boolean
C1512693 (UMLS CUI [1,1])
C0086582 (UMLS CUI [1,2])
C1510586 (UMLS CUI [1,3])
C3714756 (UMLS CUI [1,4])
Elig.phs000482.v1.p1.7
Item
30 females affected with ASD but not intellectual disability
boolean
C1512693 (UMLS CUI [1,1])
C0086287 (UMLS CUI [1,2])
C1510586 (UMLS CUI [1,3])
C1298908 (UMLS CUI [1,4])
C3714756 (UMLS CUI [1,5])
Elig.phs000482.v1.p1.8
Item
26 females with ASD and intellectual disability
boolean
C1512693 (UMLS CUI [1,1])
C0086287 (UMLS CUI [1,2])
C1510586 (UMLS CUI [1,3])
C3714756 (UMLS CUI [1,4])
Elig.phs000482.v1.p1.9
Item
Unaffected Siblings (n=50)
boolean
C1512693 (UMLS CUI [1,1])
C2986417 (UMLS CUI [1,2])
C0037047 (UMLS CUI [1,3])
Elig.phs000482.v1.p1.10
Item
Exclusions:
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000482.v1.p1.11
Item
None
boolean
C0680251 (UMLS CUI [1,1])
C0549184 (UMLS CUI [1,2])
Elig.phs000482.v1.p1.12
Item
Included:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000482.v1.p1.13
Item
19 siblings matching probands from O'Roak et al., 2011. [PMID: 21572417]
boolean
C1512693 (UMLS CUI [1,1])
C0037047 (UMLS CUI [1,2])
C0150103 (UMLS CUI [1,3])
C1948021 (UMLS CUI [1,4])
Elig.phs000482.v1.p1.14
Item
31 siblings matching the probands listed above.
boolean
C1512693 (UMLS CUI [1,1])
C0037047 (UMLS CUI [1,2])
C0150103 (UMLS CUI [1,3])
C1948021 (UMLS CUI [1,4])