Gene table of DSP : desmoplakin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DSP	OMIM link	Number of associated genes	genes
615821	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	DSP
PS107970	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	TGFB3, DSP, TMEM43, DSC2, PKP2, CTNNA3, RYR2, DSG2, JUP
607655	SKIN FRAGILITY-WOOLLY HAIR SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	DSP
605676	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA	ClinVar, OMIM	link to OMIM	1	DSP
PS604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	ClinVar	link to OMIM	15	TRDN, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, DSP, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2
612908	KERATOSIS PALMOPLANTARIS STRIATA II	ClinVar, OMIM	link to OMIM	1	DSP
609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC	ClinVar, OMIM	link to OMIM	1	DSP
603829	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	ClinVar	link to OMIM	13	DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP

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
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	hsa05412	6.32

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Apoptotic cleavage of cellular proteins	R-HSA-111465	7.73
Apoptotic execution phase	R-HSA-75153	7.28
Apoptotic cleavage of cell adhesion proteins	R-HSA-351906	9.52
Programmed Cell Death	R-HSA-5357801	5.65
Apoptosis	R-HSA-109581	5.68

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	GO:0086083	7.95
protein binding, bridging	GO:0030674	4.68
structural constituent of cytoskeleton	GO:0005200	5.12
protein binding involved in cell adhesion	GO:0098631	6.91
protein binding involved in cell-cell adhesion	GO:0098632	7.34
protein binding	GO:0005515	0.46
protein kinase C binding	GO:0005080	5.83
poly(A) RNA binding	GO:0044822	2.69
enzyme binding	GO:0019899	2.27
structural molecule activity	GO:0005198	3.1
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
scaffold protein binding	GO:0097110	5.93
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
organic cyclic compound binding	GO:0097159	1.05
RNA binding	GO:0003723	2.36
cell adhesion molecule binding	GO:0050839	4.5
protein binding involved in heterotypic cell-cell adhesion	GO:0086080	7.54
heterocyclic compound binding	GO:1901363	1.06
binding, bridging	GO:0060090	4.57