ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Disease: Cerebrooculofacioskeletal Syndrome 3 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs760232640
rs760232640 		1.000 0.160 13 102872283 frameshift variant -/A delins
CUI: C1851443
Disease: Cerebrooculofacioskeletal Syndrome 3
Cerebrooculofacioskeletal Syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0