LCA5, lebercilin LCA5, 167691

N. diseases: 4; N. variants: 6
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1858301
Disease: LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 5 		disease Eye Diseases Disease or Syndrome 1 3 0.910 None 1.000 5 3 2007 2017
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 28 90 0.680 strong 1.000 2 5 2003 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 4 1 2000 2007
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 78 218 0.100 None 1.000 2 2 2013 2015