GJD2, gap junction protein delta 2, 57369

N. diseases: 29; N. variants: 1
Disease: Hypothalamic hamartomas ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		0.010 AlteredExpression disease BEFREE Immunohistochemistry demonstrated that Cx36 and Cx43 are expressed in HH tissue, but Cx36 was mainly expressed within neuron clusters while Cx43 was mainly expressed outside of neuron clusters. 27428422 2016