Gene table of EVC2 : EvC ciliary complex subunit 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with EVC2OMIM linkNumber of associated genesgenes
193530WEYERS ACROFACIAL DYSOSTOSISClinVar, OMIM link to OMIM 2EVC2, EVC
PS208500SHORT-RIB THORACIC DYSPLASIAClinVar, OMIM, HUMSAVAR link to OMIM 14CEP120, DYNC2H1, IFT80, IFT172, EVC, EVC2, IFT140, TTC21B, KIAA0586, WDR35, WDR19, WDR34, WDR60, NEK1

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Annotation of the gene EVC2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Hedgehog 'on' stateR-HSA-56326846.62
Activation of SMOR-HSA-56358389.66
Signal TransductionR-HSA-1625821.78
Signaling by HedgehogR-HSA-53583515.79
Associated GO terms for Molecular function