Gene table of DIAPH3 : diaphanous related formin 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DIAPH3	OMIM link	Number of associated genes	genes
PS609129	AUDITORY NEUROPATHY	ClinVar, OMIM	link to OMIM	3	OTOF, AIFM1, DIAPH3

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

KEGG pathway	KEGG ID	KEGG IC
Regulation of actin cytoskeleton	hsa04810	4.9

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
RHO GTPase Effectors	R-HSA-195258	4.94
RHO GTPases Activate Formins	R-HSA-5663220	6.01
Signaling by Rho GTPases	R-HSA-194315	4.43
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
Rho GTPase binding	GO:0017048	5.36
cytoskeletal protein binding	GO:0008092	3.02
enzyme binding	GO:0019899	2.27
Ras GTPase binding	GO:0017016	4.2
actin binding	GO:0003779	3.74
small GTPase binding	GO:0031267	4.13
GTPase binding	GO:0051020	4.05
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46