Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.310 GeneticVariation BEFREE We describe four patients with mutations in CHD7, who had clinical features of CHARGE syndrome and who had T-B + NK + SCID (two patients) or clinical features consistent with Omenn syndrome (two patients). 18505430

2008
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.310 GermlineCausalMutation ORPHANET