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- NCIT_C201106 IAO_0000115 "Human EVC wild-type allele is located in the vicinity of 4p16.2 and is approximately 118 kb in length. This allele, which encodes EvC complex member EVC protein, is involved in mediating signal transduction between ciliary proteins and the hedgehog signaling pathway. Mutations in the gene are associated with both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis." @default.
- NCIT_C201106 NCIT_NHC0 "C201106" @default.
- NCIT_C201106 NCIT_P100 "604831" @default.
- NCIT_C201106 NCIT_P102 "AF216184" @default.
- NCIT_C201106 NCIT_P106 "Gene or Genome" @default.
- NCIT_C201106 NCIT_P108 "EVC wt Allele" @default.
- NCIT_C201106 NCIT_P321 "2121" @default.
- NCIT_C201106 NCIT_P98 "The human EVC and EVC2 genes are arranged in a head-to-head configuration with transcription start sites separated by approximately 2.6 kb. (OMIM)" @default.
- NCIT_C201106 NCIT_R130 NCIT_C17132 @default.
- NCIT_C201106 NCIT_R130 NCIT_C20633 @default.
- NCIT_C201106 NCIT_R130 NCIT_C91516 @default.
- NCIT_C201106 NCIT_R37 NCIT_C16649 @default.
- NCIT_C201106 NCIT_R37 NCIT_C17133 @default.
- NCIT_C201106 NCIT_R37 NCIT_C17729 @default.
- NCIT_C201106 NCIT_R37 NCIT_C17828 @default.
- NCIT_C201106 NCIT_R37 NCIT_C18100 @default.
- NCIT_C201106 NCIT_R37 NCIT_C19988 @default.
- NCIT_C201106 NCIT_R37 NCIT_C20138 @default.
- NCIT_C201106 NCIT_R37 NCIT_C20480 @default.
- NCIT_C201106 NCIT_R37 NCIT_C21124 @default.
- NCIT_C201106 NCIT_R37 NCIT_C21128 @default.
- NCIT_C201106 NCIT_R37 NCIT_C21147 @default.
- NCIT_C201106 NCIT_R37 NCIT_C40918 @default.
- NCIT_C201106 NCIT_R37 NCIT_C41480 @default.
- NCIT_C201106 NCIT_R41 NCIT_C14182 @default.
- NCIT_C201106 NCIT_R41 NCIT_C14225 @default.
- NCIT_C201106 NCIT_R41 NCIT_C14234 @default.
- NCIT_C201106 NCIT_R41 NCIT_C14250 @default.
- NCIT_C201106 NCIT_R41 NCIT_C14262 @default.
- NCIT_C201106 NCIT_R41 NCIT_C14282 @default.
- NCIT_C201106 NCIT_R41 NCIT_C25796 @default.
- NCIT_C201106 NCIT_R41 NCIT_C79740 @default.
- NCIT_C201106 normalizedInformationContent "100" @default.
- NCIT_C201106 referenceCount "1" @default.
- NCIT_C201106 hasExactSynonym "DWF-1" @default.
- NCIT_C201106 hasExactSynonym "EVC wt Allele" @default.
- NCIT_C201106 hasExactSynonym "EVC1" @default.
- NCIT_C201106 hasExactSynonym "EVCL" @default.
- NCIT_C201106 hasExactSynonym "Ellis Van Creveld Protein Gene" @default.
- NCIT_C201106 hasExactSynonym "Ellis Van Creveld Syndrome Gene" @default.
- NCIT_C201106 hasExactSynonym "EvC Ciliary Complex Subunit 1 wt Allele" @default.
- NCIT_C201106 type Class @default.
- NCIT_C201106 isDefinedBy ncit.owl @default.
- NCIT_C201106 label "EVC wt Allele" @default.
- NCIT_C201106 subClassOf B33957493e8883c41d5c2b936ecc7ec7a @default.
- NCIT_C201106 subClassOf B65017eb22d3b1309dc1164ae0511cfbf @default.
- NCIT_C201106 subClassOf NCIT_C16612 @default.
- NCIT_C201106 subClassOf NCIT_C201105 @default.
- NCIT_C201106 subClassOf NCIT_C201106 @default.
- NCIT_C201106 subClassOf NCIT_C20921 @default.