Disease table of LEBER CONGENITAL AMAUROSIS OMIM ID: PS204000
Gene-disease associations table
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Gene Associated with LEBER CONGENITAL AMAUROSIS in Link to HGNC Cytogenetic band Number of associated diseases Associated diseases AIPL1 ClinVar, OMIM, HUMSAVAR HGNC link 17p13.2 1 PS204000 CEP290 ClinVar, OMIM HGNC link 12q21.32 5 PS249000 , PS213300 , PS204000 , 610189 , PS209900 CRB1 ClinVar, OMIM, HUMSAVAR HGNC link 1q31.3 3 PS204000 , PS268000 , 172870 CRX ClinVar, OMIM, HUMSAVAR HGNC link 19q13.33 4 PS204000 , PS268000 , 120970 , 153870 GDF6 ClinVar, OMIM, HUMSAVAR HGNC link 8q22.1 4 PS300345 , PS118100 , PS204000 , PS251600 GUCY2D ClinVar, OMIM, HUMSAVAR HGNC link 17p13.1 2 601777 , PS204000 IMPDH1 ClinVar, OMIM, HUMSAVAR HGNC link 7q32.1 2 PS204000 , PS268000 KCNJ13 ClinVar, OMIM, HUMSAVAR HGNC link 2q37.1 2 PS204000 , 193230 LCA5 ClinVar, OMIM HGNC link 6q14.1 1 PS204000 LRAT OMIM, HUMSAVAR HGNC link 4q32.1 2 PS204000 , PS268000
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Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
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
Shared terms
NET-GE enrichment
REACTOME pathways annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - molecular function annotation: shared terms (no NET-GE enrichment)
Shared terms
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