Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		0.020 Biomarker BEFREE We recommend liver function tests and array-CGH in the management of patients with Phelan-McDermid syndrome. 20635403

2010
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		0.020 GeneticVariation BEFREE This study underscores the utility of array CGH for characterising the size and nature of subtelomeric deletions, such as monosomy 22q13, and underlines the considerable variability in deletion size in the 22q13 deletion syndrome regardless of the clinical phenotype. 15986041

2005