Disease table of HERMANSKY-PUDLAK SYNDROME OMIM ID: PS203300
Gene-disease associations table
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Gene Associated with HERMANSKY-PUDLAK SYNDROME in Link to HGNC Cytogenetic band Number of associated diseases Associated diseases AP3B1 ClinVar, OMIM, HUMSAVAR HGNC link 5q14.1 1 PS203300 BLOC1S3 OMIM HGNC link 19q13.32 1 PS203300 BLOC1S6 ClinVar, OMIM HGNC link 15q21.1 1 PS203300 DTNBP1 ClinVar, OMIM HGNC link 6p22.3 2 181500 , PS203300 HPS1 ClinVar, OMIM HGNC link 10q24.2 1 PS203300 HPS3 ClinVar, OMIM, HUMSAVAR HGNC link 3q24 1 PS203300 HPS4 ClinVar, OMIM HGNC link 22q12.1 1 PS203300 HPS5 ClinVar, OMIM, HUMSAVAR HGNC link 11p15.1 1 PS203300 HPS6 ClinVar, OMIM HGNC link 10q24.32 1 PS203300
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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
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
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