Gene table of DIABLO : diablo IAP-binding mitochondrial protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DIABLO	OMIM link	Number of associated genes	genes
PS124900	DEAFNESS, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	33	GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
SMAC-mediated apoptotic response	R-HSA-111469	10.66
SMAC-mediated dissociation of IAP:caspase complexes	R-HSA-111464	10.66
SMAC binds to IAPs	R-HSA-111463	10.66
Programmed Cell Death	R-HSA-5357801	5.65
Apoptotic factor-mediated response	R-HSA-111471	10.18
Intrinsic Pathway for Apoptosis	R-HSA-109606	7.73
Apoptosis	R-HSA-109581	5.68
Release of apoptotic factors from the mitochondria	R-HSA-111457	11.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46