ERBB3, erb-b2 receptor tyrosine kinase 3, 2065

N. diseases: 318; N. variants: 16
Disease: Lethal Congenital Contracture Syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843478
Disease: Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 2 		0.600 Biomarker disease GENOMICS_ENGLAND Insulin-like Growth Factor Binding Protein-3 expression in the human corneal epithelium. 17709104 2007
CUI: C1843478
Disease: Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 2 		0.600 GermlineCausalMutation disease ORPHANET Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinaseAkt pathway. 17701904 2007
CUI: C1843478
Disease: Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 2 		0.600 Biomarker disease GENOMICS_ENGLAND Regulation of neuregulin/ErbB signaling by contractile activity in skeletal muscle. 12519750 2003
CUI: C1843478
Disease: Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 2 		0.600 Biomarker disease CTD_human