Gene table of DST : dystonin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DST	OMIM link	Number of associated genes	genes
PS162400	HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	OMIM	link to OMIM	14	DST, WNK1, NTRK1, PRDM12, DNMT1, IKBKAP, FAM134B, NGF, ATL1, KIF1A, SCN11A, ATL3, SPTLC2, SPTLC1
615425	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2	ClinVar, OMIM	link to OMIM	1	DST

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
Cell junction organization	R-HSA-446728	6.51
Cell-Cell communication	R-HSA-1500931	5.87
Extracellular matrix organization	R-HSA-1474244	4.91
Collagen formation	R-HSA-1474290	6.56
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2
Type I hemidesmosome assembly	R-HSA-446107	9.52

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
hydrolase activity	GO:0016787	1.9
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
cation binding	GO:0043169	1.4
ion binding	GO:0043167	1.36
actin binding	GO:0003779	3.74
calcium ion binding	GO:0005509	3.17
protein complex binding	GO:0032403	3.09
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
integrin binding	GO:0005178	5.07
tubulin binding	GO:0015631	4.1
microtubule binding	GO:0008017	4.42
microtubule plus-end binding	GO:0051010	7.44
nucleoside-triphosphatase activity	GO:0017111	3.09
catalytic activity	GO:0003824	1.05
cell adhesion molecule binding	GO:0050839	4.5
protein dimerization activity	GO:0046983	2.72
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
cytoskeletal protein binding	GO:0008092	3.02
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43