Gene table of CNTNAP1 : contactin associated protein 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with CNTNAP1OMIM linkNumber of associated genesgenes
PS253310LETHAL CONGENITAL CONTRACTURE SYNDROMEClinVar, OMIM link to OMIM 9MYBPC1, ZBTB42, ERBB3, GLE1, ADGRG6, CNTNAP1, DNM2, PIP5K1C, ADCY6

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Annotation of the gene CNTNAP1

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
KEGG pathwayKEGG IDKEGG IC
Cell adhesion molecules (CAMs)hsa045145.36
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Neurofascin interactionsR-HSA-44704310.18
Axon guidanceR-HSA-4224753.93
L1CAM interactionsR-HSA-3737606.19
Developmental BiologyR-HSA-12667383.48
Associated GO terms for Molecular function
GO termGO IDGO IC
SH3/SH2 adaptor activityGO:00050705.79
protein binding, bridgingGO:00306744.68
molecular transducer activityGO:00600892.32
SH3 domain bindingGO:00171244.98
signaling adaptor activityGO:00355915.43
receptor activityGO:00048722.32
protein bindingGO:00055150.46
binding, bridgingGO:00600904.57
protein domain specific bindingGO:00199043.32
bindingGO:00054880.18