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Table 2 Tissue-specific enhancers and corresponding HPO terms for ten tissue types

From: Deletions of chromosomal regulatory boundaries are associated with congenital disease

Tissue HPO term name Term ID Descendant terms Genes Cases
Fetal adrenal gland Abnormality of the adrenal glands HP:0000834 65 75 2 (0.217%)
Fetal brain Abnormality of the forebrain HP:0100547 213 640 276 (29.9%)
Fetal heart Abnormality of the heart HP:0001627 273 491 236 (25.6%)
Fetal intestine Abnormality of the intestine HP:0002242 121 260 17 (1.84%)
Fetal kidney Abnormality of the kidney HP:0000077 184 383 77 (8.35%)
Fetal lung Abnormality of the lung HP:0002088 149 529 9 (0.976%)
Fetal muscle Abnormality of the musculature HP:0003011 667 1079 291 (31.6%)
Fetal stomach Abnormality of the stomach HP:0002577 24 116 10 (1.08%)
Fetal thymus Abnormality of the thymus HP:0000777 9 26 0 (0.0%)
White blood cells Abnormality of leukocytes HP:0001881 195 256 4 (0.434%)
  1. For each tissue type, a corresponding HPO term was chosen, and CNV cases were assigned to the HPO term if the term itself or any of its descendant terms was used to annotate the CNV in the DECIPHER database (See Materials and methods for details). The column `Genes’ shows the number of genes associated with monogenic diseases that display the corresponding feature in the main HPO database. The column `Cases’ shows the number of individuals in the 922 DECIPHER deletions investigated in this work that were annotated to have the HPO term in question. CNV, copy-number variation/variant; HPO, Human Phenotype Ontology.