Disease table of SKIN/HAIR/EYE PIGMENTATION, VARIATION IN OMIM ID: PS227220
Gene-disease associations table
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Gene Associated with SKIN/HAIR/EYE PIGMENTATION, VARIATION IN in Link to HGNC Cytogenetic band Number of associated diseases Associated diseases ASIP ClinVar, OMIM HGNC link 20q11.22 1 PS227220 HERC2 ClinVar, OMIM HGNC link 15q13.1 2 PS227220 , PS249500 IRF4 ClinVar, OMIM HGNC link 6p25.3 1 PS227220 KITLG ClinVar, OMIM HGNC link 12q21.32 3 PS227220 , PS124900 , 145250 MC1R OMIM HGNC link 16q24.3 4 PS227220 , 613098 , PS155600 , PS203100 OCA2 ClinVar, OMIM HGNC link 15q13.1 2 PS227220 , PS203100 SLC24A4 ClinVar, OMIM HGNC link 14q32.12 2 PS227220 , PS104500 SLC24A5 ClinVar, OMIM HGNC link 15q21.1 2 PS227220 , PS203100 SLC45A2 ClinVar, OMIM HGNC link 5p13.2 2 PS227220 , PS203100 TPCN2 ClinVar, OMIM HGNC link 11q13.3 1 PS227220
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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
Shared terms
NET-GE enrichment
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