UIC ACE Exome Sequencing Analysis
Ancestry (1)
- Ancestry - Array Ancestry and Self-Reported Race/Ethnicity as a single variable (array taking precedent) (phv00200145.v1.p1)
Anthropometry (3)
- ChgPE_head_circum - Head Circumference (cm) (phv00200167.v1.p1)
- ChgPE_height_met - Height (cm) (phv00200168.v1.p1)
- ChgPE_weight_met - Weight (kg) (phv00200169.v1.p1)
Biomarkers (1)
- WB5HT - WB5HT ng/ml (phv00200150.v1.p1)
Demographics (22)
- ABC_interview_age - Chronological Age at Aberrant Behavior Checklist, Community Version (ABC-CV) Completion (phv00200240.v1.p1)
- ADI_interview_age - Chronological Age at Autism Diagnostic Interview - Revised (ADI-R) Completion (phv00200175.v1.p1)
- ADOS_interview_age - Chronological Age (in months) at ADOS (phv00200202.v1.p1)
- BAPQ_interview_age - Chronological Age at Broad Autism Phenotype Questionnaire (BAPQ) Completion (phv00200281.v1.p1)
- celf_interview_age - Chronological Age at Clinical Evaluation of Language Fundamentals (CELF) Completion (phv00200233.v1.p1)
- ChgPE_interview_age - Age in Months at Completion of CHARGE Physical Exam (phv00200166.v1.p1)
- Cog_Age - Age (months) when Cognitive Testing completed (phv00200214.v1.p1)
- CRI_interview_age - Chronological Age at Childhood Routines Inventory (CRI) Evaluation (phv00200277.v1.p1)
- Draw_Age_Months - Age (in months) at Blood Draw (phv00200143.v1.p1)
- eowpvt_interview_age - Chronological Age at Expressive One-Word Picture Vocabulary Test (EOWPVT) Completion (phv00200229.v1.p1)
- Maternal_AgePB - Mother's Age in Months at Proband's birth (phv00200149.v1.p1)
- OCI_R_interview_age - Chronological Age Obsessive Complusive Inventory - Revised (OCI-R) Completion (phv00200269.v1.p1)
- Paternal_AgePB - Father's Age in Months at Proband's birth (phv00200148.v1.p1)
- PLS4_interview_age - Chronological Age at Preschool Language Scale, 4th Edition (PLS-4) Completion (phv00200236.v1.p1)
- PPVT4_interview_age - Chronological Age at Peabody Picture Vocabulary Test, 4th Edition (PPVT-4) Completion (phv00200225.v1.p1)
- RBSR_interview_age - Chronological Age at Repetitive Behavior Scale - Revised (RBS-R) Completion (phv00200260.v1.p1)
- SCQ_interview_age - Chronological Age at Social Communication Questionnaire (SCQ) Completion (phv00200246.v1.p1)
- Sex - Gender (phv00200138.v1.p1)
- SEX - Sex (phv00200129.v1.p1)
- SRS_interview_age - Chronological Age at Social Responsiveness Scale (SRS) Completion (phv00200249.v1.p1)
- Tanner_interview_age - Age in Months at Tanner Stage (phv00200160.v1.p1)
- VABSII_interview_age - Chronological Age at Vineland Adaptive Behavior Scales, 2nd Edition (VABS-II) Survey Interview Completion (phv00200196.v1.p1)
Disease Events (1)
- Final_Dx - Overall/Best Estimate Dx (phv00200144.v1.p1)
Imaging (1)
- MRI - MRI Completed (phv00200292.v1.p1)
Mental Health (30)
- celf_cl_ss - CELF Core Language Standard Score (phv00200235.v1.p1)
- eowpvt_ae - EWOPVT Age Equivalent (months) (phv00200232.v1.p1)
- eowpvt_ss - EWOPVT Standard Score (SS) (phv00200231.v1.p1)
- FSIQ - Full-Scale IQ Level (Standard Scores) (phv00200215.v1.p1)
- NVIQ - Non-Verbal IQ Level (Standard Scores) (phv00200219.v1.p1)
- NVMA - Non-Verbal Mental Age (months) (phv00200222.v1.p1)
- OCI_R_Checking - OCI-R Checking Subscale (phv00200275.v1.p1)
- OCI_R_Hoarding - OCI-R Hoarding Subscale (phv00200273.v1.p1)
- OCI_R_Neutralizing - OCI-R Neutralizing Subscale (phv00200276.v1.p1)
- OCI_R_Obsessing - OCI-R Obsessing Subscale (phv00200272.v1.p1)
- OCI_R_Ordering - OCI-R Ordering Subscale (phv00200274.v1.p1)
- OCI_R_total - OCI-R Total (phv00200270.v1.p1)
- OCI_R_Washing - OCI-R Washing Subscale (phv00200271.v1.p1)
- ratioNVIQ - Ratio Non-Verbal IQ (phv00200224.v1.p1)
- ratioVIQ - Ratio Verbal IQ (phv00200223.v1.p1)
- SCQ_total_score - SCQ Total (phv00200248.v1.p1)
- SRS2_Awr_TScore - SRS-2 Social Awareness T-score (phv00200253.v1.p1)
- SRS2_Cog_TScore - SRS-2 Social Cognition T-score (phv00200254.v1.p1)
- SRS2_Com_TScore - SRS-2 Social Communication T-score (phv00200255.v1.p1)
- SRS2_Mot_TScore - SRS-2 Social Motivation T-score (phv00200256.v1.p1)
- SRS2_RRB_TScore - SRS-2 Restricted and Repetitive Behavior T-score (phv00200257.v1.p1)
- SRS2_SCI_Tscore - SRS-2 Social Communication and Interaction (SCI) T-score (phv00200259.v1.p1)
- SRS2_TScore - SRS-2 total T-score (phv00200251.v1.p1)
- VABSII_ABC_SS - VABS-II Adpative Behavior Composite Standard Score (phv00200201.v1.p1)
- VABSII_Communication_SS - VABS-II Communication Domain Standard Score (phv00200197.v1.p1)
- VABSII_DailyLiving_SS - VABS-II Living Skills Domain Standard Score (phv00200198.v1.p1)
- VABSII_Motor_SS - VABS-II Motor Skills Domain Standard Score (phv00200200.v1.p1)
- VABSII_Socialization_SS - VABS-II Socialization Domain Standard Score (phv00200199.v1.p1)
- VIQ - Verbal IQ Level (Standard Scores) (phv00200217.v1.p1)
- VMA - Verbal Mental Age (months) (phv00200221.v1.p1)
Race and Ethnicity (2)
- Ethnicity - Reported Ethnicity (phv00200146.v1.p1)
- Race - Reported Race (phv00200147.v1.p1)
Other (133)
- ABC_Hyperactivity - ABC Hyperactivity subscale total (phv00200244.v1.p1)
- ABC_Inappropriate_Speech - ABC Inappropriate Speech subscale total (phv00200245.v1.p1)
- ABC_Irritability - ABC Irritability subscale total (phv00200241.v1.p1)
- ABC_Lethargy - ABC Lethargy subscale total (phv00200242.v1.p1)
- ABC_Stereotypy - ABC Stereotypy subscale total (phv00200243.v1.p1)
- ADOS_CSS - ADOS: Calibrated Severity Score (CSS) (phv00200207.v1.p1)
- ADOS_Module - ADOS Module these Scores from (phv00200203.v1.p1)
- ADOS_RRB_CSS - ADOS Restricted & Repetitive Behaviors Domain Calibrated Severity Score (Hus & Lord 2012) (phv00200209.v1.p1)
- ADOS_SA_CSS - ADOS Social Affect Domain Calibrated Severity Score (Hus & Lord 2012) (phv00200208.v1.p1)
- AFFECTION_STATUS - Case control status of the subject (phv00200124.v1.p1)
- AGP_Dx_rev_ADOS_algo - AGP: Overall Phenotype Dx Classification based on the ADI algo Dx and Revised ADOS algo Dx (phv00200213.v1.p1)
- Analyte Type - Analyte Type (phv00200308.v1.p1)
- BAPQ_Aloof - BAPQ Aloof Subscale (phv00200283.v1.p1)
- BAPQ_Aloof_Ave - BAPQ Aloof Subscale Average (phv00200287.v1.p1)
- BAPQ_Informant - Relationship of Informant to individual BAPQ is about (phv00200282.v1.p1)
- BAPQ_IS - BAPQ Insistence on Sameness (IS) factor (phv00200291.v1.p1)
- BAPQ_Prag_Lang - BAPQ Pragmatic Language Subscale (phv00200284.v1.p1)
- BAPQ_Prag_Lang_Ave - BAPQ Pragmatic Language Subscale Average (phv00200288.v1.p1)
- BAPQ_Rigid - BAPQ Rigid Subscale (phv00200285.v1.p1)
- BAPQ_Rigid_Ave - BAPQ Rigid Subscale Average (phv00200289.v1.p1)
- BAPQ_total - Total BAPQ score (phv00200286.v1.p1)
- BAPQ_Total_Ave - BAPQ Total Average (phv00200290.v1.p1)
- Bishop_ADI_IS - Bishop, et.al. ADI-R Insistence on Sameness (IS) factor (mx 12) (phv00200194.v1.p1)
- Bishop_ADI_RSM - Bishop, et.al. ADI-R Repetitive Sensory Motor factor (mx 10) (phv00200195.v1.p1)
- Bishop_ADOS_RSM_factor - Bishop, et.al. ADOS Repetitive Sensory Motor (RSM) factor (mx 6) (phv00200210.v1.p1)
- Body_Site - Body site where sample was collected (phv00200307.v1.p1)
- celf_form - CELF Form Used (phv00200234.v1.p1)
- ChgFamChar_completed - CHARGE Family Characteristics questionnaire completed (phv00200172.v1.p1)
- ChgFamMedHx_completed - Modified CHARGE Family Medical History completed (phv00200173.v1.p1)
- ChgMedHx_completed - CHARGE Medical History completed (phv00200174.v1.p1)
- ChgPE_head_circum_maternal - Mother's Head Circumference (cm) (phv00200171.v1.p1)
- ChgPE_head_circum_paternal - Father's Head Circumference (cm) (phv00200170.v1.p1)
- Citbinding - Citalopram binding (5HT transporter protein) (phv00200155.v1.p1)
- CONSENT - Consent group as determined by DAC (phv00200121.v1.p1)
- CRI_JR_intensity_mean - CRI JR intensity MEAN (phv00200280.v1.p1)
- CRI_RRB_intensity_mean - CRI RRB intensity MEAN (phv00200279.v1.p1)
- CRI_total_intensity_mean - CRI total intensity MEAN (phv00200278.v1.p1)
- DNA_ExtMethod - DNA extraction method used at RUCDR (phv00200311.v1.p1)
- Dup_Abnormality - 15Q Duplication Testing Type of Abnormality Detected (phv00200159.v1.p1)
- eowpvt_edition - EOWPVT Edition (phv00200230.v1.p1)
- FAMILY_ID - Family ID (phv00200125.v1.p1)
- FATHER - Father's Subject ID (phv00200127.v1.p1)
- FiveHT2A_specific_binding - 5HT2A specific binding (phv00200156.v1.p1)
- FraX_Test_Abnormality - FragileX Testing Type of Abnormal Result (phv00200158.v1.p1)
- FSIQ_Measure - FSIQ Measure Used (phv00200216.v1.p1)
- GENOTYPING_CENTER - Name of the center which conducted genotyping (phv00200312.v1.p1)
- HISTOLOGICAL_TYPE - Cell or tissue type or subtype of sample (phv00200310.v1.p1)
- Karyotype_Abnormality - Karyotype Testing Type of Abnormality Detected (phv00200157.v1.p1)
- Km - Km-3H-5HT Transporter (phv00200154.v1.p1)
- MATID - Maternal NDAR src_subject_id (phv00200140.v1.p1)
- MOTHER - Mother's Subject ID (phv00200128.v1.p1)
- NDAR_GUID - NDAR GUID (subjectkey) (phv00200142.v1.p1)
- NVIQ_Measure - NVIQ Measure Used (phv00200220.v1.p1)
- Orig_ADOS_Class_Dx - ADOS: Original algorithm Dx Classification (phv00200212.v1.p1)
- PATID - Paternal NDAR src_subject_id (phv00200139.v1.p1)
- PLS4_AC_SS - PLS-4 Auditory Comprehension: Standard Score (SS) (phv00200237.v1.p1)
- PLS4_EC_SS - PLS-4 Expressive Communication: Standard Score (SS) (phv00200238.v1.p1)
- PLS4_TLS_SS - PLS-4 Total Language Score: Standard Score (SS) (phv00200239.v1.p1)
- PPVT4_AE - Age Equivalent (AE) in months (phv00200228.v1.p1)
- PPVT4_Form - PPVT-4_Form Used (phv00200226.v1.p1)
- PPVT4_SS - PPVT-4_Standard Score (phv00200227.v1.p1)
- PRL_n.lose.shift.acquisition.accurate - PRL (Probabilistic Reversal Learning): Number of Lose Shift Acquisition Trials following Accurate Feedback (phv00200293.v1.p1)
- PRL_n.lose.shift.acquisition.inaccurate - PRL: Number of Lose Shift Acquisition Trials following Inaccurate Feedback (phv00200294.v1.p1)
- PRL_n.lose.shift.reversal.inaccurate - PRL: Number of Lose Shift Reversal Trials following Inaccurate Feedback (phv00200295.v1.p1)
- PRL_n.perseverative.error - PRL: Number of Perseverative Errors (phv00200298.v1.p1)
- PRL_n.possible.lose.shift.acquisition.inaccurate - PRL: Number of Lose Shift Acquisition Trials following Inaccurate Feedback (phv00200296.v1.p1)
- PRL_n.possible.lose.shift.reversal.inaccurate - PRL: Number of Lose Shift Reversal Trials following Inaccurate Feedback (phv00200297.v1.p1)
- PRL_n.regressive.error - PRL: Number of Regressive Errors (phv00200299.v1.p1)
- PRL_n.total.a - PRL: Total Number of Reversal Acquisition (phv00200300.v1.p1)
- PRL_n.total.r - PRL: Total Number of Reversal (phv00200301.v1.p1)
- RBSR_5subscale_1_tot - RBS-R 5-Factor subscale: Stereoytped Behavior (phv00200261.v1.p1)
- RBSR_5subscale_2_tot - RBS-R 5-Factor subscale: Self-Injurious Behavior (phv00200262.v1.p1)
- RBSR_5subscale_3_tot - RBS-R 5-Factor subscale: Compulsive Behavior (phv00200263.v1.p1)
- RBSR_5subscale_4_tot - RBS-R -Factor5 subscale: Ritualistic/Sameness Behavior (phv00200264.v1.p1)
- RBSR_5subscale_5_tot - RBS-R 5-Factor subscale: Restricted Interests Behavior (phv00200265.v1.p1)
- RBSR_5total_score - RBS-R 5-Factor subscale: Overall Total (phv00200266.v1.p1)
- RBSR_CRS - RBS-R CRS (Lam 5-Factor) Compulsive and Ritualistic/Sameness subscales totaled (phv00200267.v1.p1)
- RBSR_CRS_change - Difference between Baseline and End of Study RBS-R CRS (summed subscales: Compulsive Behavior and Ritualistic/Sameness Behavior) totals (phv00200268.v1.p1)
- Rel_to_Proband - Relationship to Proband (phv00200137.v1.p1)
- Rev_ADOS_Class_Dx - ADOS: Revised algorithm Dx Classification (phv00200211.v1.p1)
- Rev_ADOS_RRB_Ttl - ADOS: Revised algorithm Restricted and Repetitive Behavior Total (phv00200205.v1.p1)
- Rev_ADOS_SocAff_RRB_Ttl - ADOS: Revised algorithm Social Affect and Restricted and Repetitive Behavior Total (phv00200206.v1.p1)
- Rev_ADOS_SocAff_Ttl - ADOS: Revised algorithm Social Affect Total (phv00200204.v1.p1)
- RUCDR_Cell_Line_# - Rutger's biorepository ID# (phv00200141.v1.p1)
- SAMPLE_ID - De-identified Sample ID (phv00200306.v1.p1)
- SAMPLE_ID - Sample ID (phv00200131.v1.p1)
- SAMPLE_SOURCE - Source repository where samples originate (phv00200132.v1.p1)
- SAMPLE_USE - Sample use. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing (phv00200134.v1.p1)
- SCQ_Type - SCQ Version (phv00200247.v1.p1)
- SEQUENCING_CENTER - Name of the center which conducted sequencing (phv00200313.v1.p1)
- SOURCE_SAMPLE_ID - Sample ID used in the Source Repository (phv00200133.v1.p1)
- SOURCE_SUBJECT_ID - Subject ID used in the Source Repository (phv00200123.v1.p1)
- src_subject_id - National Database for Autism Research (NDAR) site subject identification (phv00200136.v1.p1)
- SRS_Version - SRS Version Used (phv00200250.v1.p1)
- SRS2_Class - SRS-2 T-Score Classification Range (phv00200252.v1.p1)
- SRS2_SCI_raw - SRS-2 Social Communication and Interaction (SCI) raw score (phv00200258.v1.p1)
- SST_go.correct.lat.1.baseline - SST: mean latency (in ms) of go correct trials at baseline (phv00200303.v1.p1)
- SST_go.correct.lat.difference - SST: mean latency (in ms) difference of go correct trials between timepoint 1 task and baseline (phv00200305.v1.p1)
- SST_go.correct.latx1 - SST: mean latency (in ms) of go correct trials at timepoint 1 task (phv00200304.v1.p1)
- SST_percentage.of.correct.stop.trials - SST (Stop Signal Task): percentage of correct stop trials (phv00200302.v1.p1)
- SUBJECT_ID - Unique Subject ID (phv00200135.v1.p1)
- SUBJECT_ID - Subject ID (phv00200120.v1.p1)
- SUBJECT_ID - Unique Subject ID (phv00200126.v1.p1)
- SUBJECT_ID - Subject ID (phv00200130.v1.p1)
- SUBJECT_SOURCE - Source repository where subjects originate (phv00200122.v1.p1)
- ts_breasts - Tanner Stage: Breasts (females only) (phv00200163.v1.p1)
- ts_penis - Tanner Stage: Penis (males only) (phv00200164.v1.p1)
- ts_pubic_hair - Tanner Stage: Pubic Hair (phv00200162.v1.p1)
- ts_stage_devel - Tanner Stage of Development (phv00200161.v1.p1)
- ts_testes - Tanner Stage: Testes (males only) (phv00200165.v1.p1)
- Tumor status - Tumor status (phv00200309.v1.p1)
- VIQ_Measure - VIQ Measure Used (phv00200218.v1.p1)
- Vmax - Maximal velocity (Vmax 3H-5HT transporter pmol/10<7> platelets/min) (phv00200153.v1.p1)
- WB5HT_Mat - Maternal WB5HT ng/ml (phv00200152.v1.p1)
- WB5HT_Pat - Paternal WB5HT ng/ml (phv00200151.v1.p1)
- WPS_ADI_Algorithm_A1total - ADI Diagnostic Algo: Total A1 (phv00200176.v1.p1)
- WPS_ADI_Algorithm_A2total - ADI Diagnostic Algo: Total A2 (phv00200177.v1.p1)
- WPS_ADI_Algorithm_A3total - ADI Diagnostic Algo: Total A3 (phv00200178.v1.p1)
- WPS_ADI_Algorithm_A4total - ADI Diagnostic Algo: Total A4 (phv00200179.v1.p1)
- WPS_ADI_Algorithm_Atotal - ADI Diagnostic Algo: Total A (phv00200180.v1.p1)
- WPS_ADI_Algorithm_B1total - ADI Diagnostic Algo: Total B1 (phv00200181.v1.p1)
- WPS_ADI_Algorithm_B2vtotal - ADI Diagnostic Algo: Total B2 (phv00200182.v1.p1)
- WPS_ADI_Algorithm_B3vtotal - ADI Diagnostic Algo: Total B3 (phv00200183.v1.p1)
- WPS_ADI_Algorithm_B4total - ADI Diagnostic Algo: Total B4 (phv00200184.v1.p1)
- WPS_ADI_Algorithm_Bnvtotal - ADI Diagnostic Algo: Total B (non-verbal) (phv00200185.v1.p1)
- WPS_ADI_Algorithm_Bvtotal - ADI Diagnostic Algo: Total B (verbal) (phv00200186.v1.p1)
- WPS_ADI_Algorithm_C1total - ADI Diagnostic Algo: Total C1 (phv00200187.v1.p1)
- WPS_ADI_Algorithm_C2total - ADI Diagnostic Algo: Total C2 (phv00200188.v1.p1)
- WPS_ADI_Algorithm_C3total - ADI Diagnostic Algo: Total C3 (phv00200189.v1.p1)
- WPS_ADI_Algorithm_C4total - ADI Diagnostic Algo: Total C4 (phv00200190.v1.p1)
- WPS_ADI_Algorithm_Ctotal - ADI Diagnostic Algo: Total C (phv00200191.v1.p1)
- WPS_ADI_Algorithm_Dtotal - ADI Diagnostic Algo: Total D (phv00200192.v1.p1)
- WPS_ADIR_Algorithm_Dx - ADI-R Algorithm Dx (based on Risi, et al.) (phv00200193.v1.p1)