Gene-disease associations table
Gene | Associated with NEPHRONOPHTHISIS in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
ANKS6 | ClinVar, OMIM, HUMSAVAR | HGNC link | 9q22.33 | 1 | PS256100 |
CEP164 | ClinVar, OMIM, HUMSAVAR | HGNC link | 11q23.3 | 1 | PS256100 |
CEP83 | ClinVar, OMIM, HUMSAVAR | HGNC link | 12q22 | 1 | PS256100 |
DCDC2 | ClinVar, OMIM | HGNC link | 6p22.3 | 2 | PS220290, PS256100 |
GLIS2 | ClinVar, OMIM | HGNC link | 16p13.3 | 1 | PS256100 |
INVS | ClinVar, OMIM, HUMSAVAR | HGNC link | 9q31.1 | 1 | PS256100 |
NEK8 | ClinVar, OMIM, HUMSAVAR | HGNC link | 17q11.2 | 2 | PS256100, PS208540 |
NPHP1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 2q13 | 3 | PS213300, 266900, PS256100 |
NPHP3 | ClinVar, OMIM, HUMSAVAR | HGNC link | 3q22.1 | 3 | PS249000, PS208540, PS256100 |
NPHP4 | ClinVar, OMIM, HUMSAVAR | HGNC link | 1p36.31 | 2 | PS256100, 606996 |
Showing 1 to 10 of 15 entries
Download the disease annotation in CSV format
Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
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 (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