Extended Data Fig. 1. PTV burden-based phenome-wide association analysis (3,150 phenotypes) for KDM5B in the UK Biobank unrelated European samples (N = 321,843).

FEV1 Z-score is Inverted GLI 2012 z-score for FEV1. Phenotypes were grouped and color-coded from left to right in the following categories: biomarker; composite phenotypes; family history; ICD-10 cause of death, ICD-10 congenital malformations; deformations and chromosomal abnormalities; ICD-10 diseases of the circulatory system; ICD-10 diseases of the digestive system; ICD-10 diseases of the eye and adnexa; ICD-10 diseases of the genitourinary system; ICD-10 diseases of the musculoskeletal system and connective tissue; ICD-10 diseases of the nervous system; ICD-10 diseases of the respiratory system; ICD-10 diseases of the skin and subcutaneous tissue; ICD-10 endocrine, nutritional and metabolic diseases; ICD-10 mental, behavioral and neurodevelopmental disorders; ICD-10 neoplasms; ICD-10 pregnancy, childbirth and the puerperium; ICD-10 symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified; operation code; self-reported illness: cancer; self-reported illness: non−cancer; self-reported medication. Bonferroni corrected p-value (two-sided t-test) significance threshold was 0.05/3150 = 1.59×10⁻⁵.