Gene-disease associations table
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Gene Associated with JOUBERT SYNDROME in Link to HGNC Cytogenetic band Number of associated diseases Associated diseases AHI1 ClinVar, OMIM, HUMSAVAR HGNC link 6q23.3 1 PS213300 ARL13B ClinVar, OMIM, HUMSAVAR HGNC link 3q11.1 1 PS213300 C5orf42 ClinVar, OMIM, HUMSAVAR HGNC link 5p13.2 2 PS213300 , 277170 CC2D2A ClinVar, OMIM, HUMSAVAR HGNC link 4p15.32 3 PS213300 , 216360 , PS249000 CEP104 ClinVar, OMIM HGNC link 1p36.32 1 PS213300 CEP290 ClinVar, OMIM, HUMSAVAR HGNC link 12q21.32 5 PS249000 , PS213300 , PS204000 , 610189 , PS209900 CEP41 ClinVar, OMIM HGNC link 7q32.2 1 PS213300 CSPP1 ClinVar, OMIM HGNC link 8q13.1 1 PS213300 EXOC8 ClinVar HGNC link 1q42.2 1 PS213300 INPP5E ClinVar, OMIM, HUMSAVAR HGNC link 9q34.3 2 PS213300 , 610156
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Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
By band
By region
By arm
By chromosome
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from BIOGRID - genetic
Interactions from STRING
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - molecular function annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - biological process annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - cellular component annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment