Deletions of chromosomal regulatory boundaries are associated with congenital disease

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

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%)

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.

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