CRMP1, collapsin response mediator protein 1, 1400

N. diseases: 148; N. variants: 42
Disease: Ellis-Van Creveld Syndrome ×
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: rs896581899
rs896581899 		1.000 0.120 4 5810377 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0