Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1832
Gene name Gene Name - the full gene name approved by the HGNC.	Desmoplakin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DSP
Synonyms (NCBI Gene) Gene synonyms aliases	DCWHKTA, DP
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woo

Show/Hide all(243)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28763965	C>A,G,T	Uncertain-significance, likely-pathogenic, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, stop gained, coding sequence variant, missense variant, synonymous variant
rs28931610	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs34239595	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs41302885	G>A,C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs113726158	A>G,T	Likely-pathogenic	Splice acceptor variant
rs113967308	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121912991	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs121912992	C>G,T	Benign, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121912993	T>G	Pathogenic	Missense variant, coding sequence variant
rs121912994	T>A	Pathogenic	Stop gained, coding sequence variant
rs121912995	C>T	Pathogenic	Stop gained, coding sequence variant
rs121912996	C>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs121912997	C>G,T	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs121912999	G>A	Pathogenic	Missense variant, coding sequence variant
rs138329459	A>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs138599871	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs139509870	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs139969658	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs140474226	C>T	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs141026028	C>A,T	Likely-pathogenic, pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs142429411	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs142494121	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign	Missense variant, coding sequence variant
rs142717240	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs142885240	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs145933612	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs146617683	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147000526	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147315869	G>A	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147415451	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, missense variant
rs147484870	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148041814	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Intron variant, coding sequence variant, missense variant
rs148894066	C>A,T	Likely-pathogenic, likely-benign, benign	Coding sequence variant, stop gained, synonymous variant
rs149701627	C>G,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs150339369	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185367490	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant
rs188516326	A>G	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs193922668	ATT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs193922669	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs193922671	C>G	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs199795359	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs200243976	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, intron variant, missense variant
rs201397978	T>C	Benign, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201826850	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, missense variant
rs202232360	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs370550974	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs372014020	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375327581	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs375891215	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs387906618	G>A	Pathogenic	Missense variant, coding sequence variant
rs397514039	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs397514040	TT>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs397514045	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397516913	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397516915	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs397516919	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397516923	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397516924	->A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397516927	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516929	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs397516932	AAGAACAAAT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs397516933	C>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs397516940	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs397516943	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs397516945	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516946	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397516955	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs397516956	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397516971	ATCTCGCTCCGG>-,ATCTCGCTCCGGATCTCGCTCCGG	Likely-benign, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant, inframe insertion
rs397516973	C>A,T	Likely-benign, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs557263443	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs562015789	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs587782927	AG>-	Likely-pathogenic, pathogenic	Splice acceptor variant, coding sequence variant
rs606231293	->GGAAAATACAGTCTCAGTTCACCGATGCCC	Pathogenic	Inframe insertion, coding sequence variant
rs606231294	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs606231295	C>T	Pathogenic	Missense variant, coding sequence variant
rs727502993	->AC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727502994	->AG	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs727503000	->A	Pathogenic	Frameshift variant, coding sequence variant
rs727503001	T>A	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant
rs727503003	->A	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs727504443	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs727504498	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs727504738	CC>AGCTCGAGTCCCTCG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727505077	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727505115	G>A,C	Likely-pathogenic	Splice donor variant
rs727505260	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727505271	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs730880023	AGGTA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs730880024	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs730880081	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs730880082	C>G,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs730880092	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs730880093	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs746877365	C>G,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs749730642	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs750289780	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs754354190	TG>-	Likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs767643821	C>A,G,T	Pathogenic, likely-benign, likely-pathogenic	Intron variant, coding sequence variant, stop gained, synonymous variant, missense variant
rs768521444	C>T	Pathogenic	Coding sequence variant, stop gained
rs768858918	G>A	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant
rs770873593	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs772646601	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs774514264	T>C	Likely-pathogenic	Splice donor variant
rs774763657	AGTC>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs778178956	C>T	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs778856526	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs794727381	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs794728106	G>A	Pathogenic	Splice donor variant
rs794728111	A>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs794728113	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728119	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs794728121	A>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs794728124	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs794728130	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728131	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728135	CTTGATGCG>-	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs794728136	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728137	->G	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728139	CAATT>-	Pathogenic	Stop gained, coding sequence variant
rs794728140	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728141	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794728142	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs794728143	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728146	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728147	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794728148	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs794728149	->A	Pathogenic	Frameshift variant, coding sequence variant
rs794728157	->TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025392	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs869025395	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs869025398	T>G	Likely-pathogenic	Splice donor variant
rs869025399	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs876657638	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs879255521	C>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs886038929	C>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs886039009	GAGAC>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039178	C>G	Pathogenic	Stop gained, coding sequence variant
rs886039343	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517903	G>C	Likely-pathogenic	Splice acceptor variant
rs1057518101	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057518920	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057523629	G>A	Likely-pathogenic	Splice donor variant
rs1060500607	->T	Pathogenic	Stop gained, coding sequence variant
rs1060500609	G>T	Likely-pathogenic	Splice acceptor variant
rs1060500610	C>A,T	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1060500613	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060500618	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064793435	GACACT>CA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793890	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1064794616	TAT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1131691561	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691673	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1135401735	A>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1184921987	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs1194358112	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1227662860	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1231490307	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1236464864	T>C,G	Likely-pathogenic, pathogenic	Intron variant, stop gained, synonymous variant, coding sequence variant
rs1238227166	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1249913357	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1267435790	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1304410089	G>A,T	Pathogenic	Splice acceptor variant
rs1394836623	AGAG>-,AG	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1464253797	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1487814687	GAGA>-,GA	Pathogenic	Coding sequence variant, frameshift variant
rs1554105614	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1554105911	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554106742	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554106743	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554106756	T>C	Likely-pathogenic	Splice donor variant
rs1554106830	A>G	Likely-pathogenic	Splice acceptor variant
rs1554107096	A>C	Pathogenic	Missense variant, coding sequence variant
rs1554107097	C>A	Pathogenic	Stop gained, coding sequence variant
rs1554107098	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1554107107	G>C	Likely-pathogenic	Splice donor variant
rs1554107624	T>A	Pathogenic	Stop gained, coding sequence variant
rs1554107651	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1554107741	G>T	Likely-pathogenic	Splice donor variant
rs1554107839	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554107916	->GGTT	Pathogenic	Coding sequence variant, frameshift variant
rs1554108012	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1554108050	G>T	Pathogenic	Stop gained, coding sequence variant
rs1554108152	->AAATCGA	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108170	->CC	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108172	G>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1554108280	TGA>G	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108283	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1554108287	CACTG>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108410	AGGAG>TTCT	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554108431	C>T	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant
rs1554108477	C>T	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant
rs1554108609	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1554108610	AGTCCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554108621	ACAGCGCC>GTG	Pathogenic	Coding sequence variant, frameshift variant
rs1554108854	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554108859	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554108929	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554109181	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554109247	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561680649	GT>AA	Pathogenic	Coding sequence variant, stop gained
rs1561686893	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1561687796	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1561690319	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1561693779	C>T	Pathogenic	Coding sequence variant, stop gained
rs1561694696	C>T	Pathogenic	Coding sequence variant, stop gained
rs1561696970	AC>T	Pathogenic	Coding sequence variant, frameshift variant
rs1561697181	->TA	Pathogenic	Coding sequence variant, stop gained
rs1561698345	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1561698362	ATGAA>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1561698714	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1561698750	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1561701401	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561701721	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561702549	G>CT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561702640	TCAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561702771	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561703331	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1561703363	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561703922	ACAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561704475	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581792793	TTTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581792832	->AT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581794029	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1581799453	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581799477	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581800307	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581802715	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1581805658	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581805788	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581809567	C>T	Pathogenic	Stop gained, coding sequence variant
rs1581813420	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581813564	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581815603	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581815654	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1581816089	C>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1581816570	->GGTC	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581817513	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581818649	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581819043	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581823904	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581823931	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581824066	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581825892	->T	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(140)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001637	hsa-let-7b-5p	pSILAC	18668040
MIRT021319	hsa-miR-9-5p	Microarray	17612493
MIRT025251	hsa-miR-34a-5p	Proteomics	21566225
MIRT031374	hsa-miR-16-5p	Proteomics	18668040
MIRT001637	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT001637	hsa-let-7b-5p	CLASH	23622248
MIRT001637	hsa-let-7b-5p	CLASH	23622248
MIRT051650	hsa-let-7e-5p	CLASH	23622248
MIRT045149	hsa-miR-186-5p	CLASH	23622248
MIRT440774	hsa-miR-544a	HITS-CLIP	24374217
MIRT440774	hsa-miR-544a	HITS-CLIP	24374217
MIRT946215	hsa-miR-1245	CLIP-seq
MIRT946216	hsa-miR-1253	CLIP-seq
MIRT946217	hsa-miR-1275	CLIP-seq
MIRT946218	hsa-miR-1290	CLIP-seq
MIRT946219	hsa-miR-186	CLIP-seq
MIRT946220	hsa-miR-2115	CLIP-seq
MIRT946221	hsa-miR-217	CLIP-seq
MIRT946222	hsa-miR-2276	CLIP-seq
MIRT946223	hsa-miR-3074-3p	CLIP-seq
MIRT946224	hsa-miR-3133	CLIP-seq
MIRT946225	hsa-miR-340	CLIP-seq
MIRT946226	hsa-miR-34c-3p	CLIP-seq
MIRT946227	hsa-miR-3607-3p	CLIP-seq
MIRT946228	hsa-miR-3613-3p	CLIP-seq
MIRT946229	hsa-miR-3686	CLIP-seq
MIRT946230	hsa-miR-3688-3p	CLIP-seq
MIRT946231	hsa-miR-374c	CLIP-seq
MIRT946232	hsa-miR-3940-5p	CLIP-seq
MIRT946233	hsa-miR-4276	CLIP-seq
MIRT946234	hsa-miR-4418	CLIP-seq
MIRT946235	hsa-miR-4428	CLIP-seq
MIRT946236	hsa-miR-4507	CLIP-seq
MIRT946237	hsa-miR-4509	CLIP-seq
MIRT946238	hsa-miR-4639-3p	CLIP-seq
MIRT946239	hsa-miR-4652-3p	CLIP-seq
MIRT946240	hsa-miR-4665-5p	CLIP-seq
MIRT946241	hsa-miR-4698	CLIP-seq
MIRT946242	hsa-miR-4714-5p	CLIP-seq
MIRT946243	hsa-miR-4738-3p	CLIP-seq
MIRT946244	hsa-miR-4742-3p	CLIP-seq
MIRT946245	hsa-miR-4760-5p	CLIP-seq
MIRT946246	hsa-miR-4766-5p	CLIP-seq
MIRT946247	hsa-miR-4775	CLIP-seq
MIRT946248	hsa-miR-509-3-5p	CLIP-seq
MIRT946249	hsa-miR-509-5p	CLIP-seq
MIRT946250	hsa-miR-515-5p	CLIP-seq
MIRT946251	hsa-miR-548a-3p	CLIP-seq
MIRT946252	hsa-miR-548c-3p	CLIP-seq
MIRT946253	hsa-miR-548e	CLIP-seq
MIRT946254	hsa-miR-548f	CLIP-seq
MIRT946255	hsa-miR-548g	CLIP-seq
MIRT946256	hsa-miR-590-3p	CLIP-seq
MIRT946257	hsa-miR-640	CLIP-seq
MIRT946258	hsa-miR-655	CLIP-seq
MIRT946259	hsa-miR-676	CLIP-seq
MIRT946260	hsa-miR-27a	CLIP-seq
MIRT946261	hsa-miR-27b	CLIP-seq
MIRT946262	hsa-miR-3146	CLIP-seq
MIRT946263	hsa-miR-3684	CLIP-seq
MIRT946231	hsa-miR-374c	CLIP-seq
MIRT946264	hsa-miR-412	CLIP-seq
MIRT946265	hsa-miR-4659a-3p	CLIP-seq
MIRT946266	hsa-miR-4659b-3p	CLIP-seq
MIRT946267	hsa-miR-4678	CLIP-seq
MIRT946268	hsa-miR-513a-5p	CLIP-seq
MIRT946252	hsa-miR-548c-3p	CLIP-seq
MIRT946258	hsa-miR-655	CLIP-seq
MIRT946215	hsa-miR-1245	CLIP-seq
MIRT946216	hsa-miR-1253	CLIP-seq
MIRT946217	hsa-miR-1275	CLIP-seq
MIRT946218	hsa-miR-1290	CLIP-seq
MIRT1980161	hsa-miR-138	CLIP-seq
MIRT1980162	hsa-miR-150	CLIP-seq
MIRT946221	hsa-miR-217	CLIP-seq
MIRT946222	hsa-miR-2276	CLIP-seq
MIRT1980163	hsa-miR-2681	CLIP-seq
MIRT946223	hsa-miR-3074-3p	CLIP-seq
MIRT1980164	hsa-miR-3192	CLIP-seq
MIRT946226	hsa-miR-34c-3p	CLIP-seq
MIRT946227	hsa-miR-3607-3p	CLIP-seq
MIRT946228	hsa-miR-3613-3p	CLIP-seq
MIRT1980165	hsa-miR-3646	CLIP-seq
MIRT946229	hsa-miR-3686	CLIP-seq
MIRT946230	hsa-miR-3688-3p	CLIP-seq
MIRT1980166	hsa-miR-3689a-3p	CLIP-seq
MIRT1980167	hsa-miR-3689c	CLIP-seq
MIRT946231	hsa-miR-374c	CLIP-seq
MIRT1980168	hsa-miR-3907	CLIP-seq
MIRT946232	hsa-miR-3940-5p	CLIP-seq
MIRT1980169	hsa-miR-425	CLIP-seq
MIRT946233	hsa-miR-4276	CLIP-seq
MIRT1980170	hsa-miR-4279	CLIP-seq
MIRT946234	hsa-miR-4418	CLIP-seq
MIRT946235	hsa-miR-4428	CLIP-seq
MIRT1980171	hsa-miR-4492	CLIP-seq
MIRT1980172	hsa-miR-4498	CLIP-seq
MIRT946236	hsa-miR-4507	CLIP-seq
MIRT946237	hsa-miR-4509	CLIP-seq
MIRT1980173	hsa-miR-4517	CLIP-seq
MIRT946238	hsa-miR-4639-3p	CLIP-seq
MIRT946239	hsa-miR-4652-3p	CLIP-seq
MIRT946240	hsa-miR-4665-5p	CLIP-seq
MIRT946241	hsa-miR-4698	CLIP-seq
MIRT1980174	hsa-miR-4705	CLIP-seq
MIRT1980175	hsa-miR-4728-5p	CLIP-seq
MIRT1980176	hsa-miR-4731-5p	CLIP-seq
MIRT1980177	hsa-miR-4760-3p	CLIP-seq
MIRT946245	hsa-miR-4760-5p	CLIP-seq
MIRT1980178	hsa-miR-4761-5p	CLIP-seq
MIRT1980179	hsa-miR-4773	CLIP-seq
MIRT946247	hsa-miR-4775	CLIP-seq
MIRT946248	hsa-miR-509-3-5p	CLIP-seq
MIRT946249	hsa-miR-509-5p	CLIP-seq
MIRT946252	hsa-miR-548c-3p	CLIP-seq
MIRT1980180	hsa-miR-548p	CLIP-seq
MIRT1980181	hsa-miR-548q	CLIP-seq
MIRT946256	hsa-miR-590-3p	CLIP-seq
MIRT946257	hsa-miR-640	CLIP-seq
MIRT946258	hsa-miR-655	CLIP-seq
MIRT946259	hsa-miR-676	CLIP-seq
MIRT1980182	hsa-miR-762	CLIP-seq
MIRT946221	hsa-miR-217	CLIP-seq
MIRT2215309	hsa-miR-324-5p	CLIP-seq
MIRT2215310	hsa-miR-3691-3p	CLIP-seq
MIRT946247	hsa-miR-4775	CLIP-seq
MIRT2215311	hsa-miR-521	CLIP-seq
MIRT1980180	hsa-miR-548p	CLIP-seq
MIRT946256	hsa-miR-590-3p	CLIP-seq
MIRT946217	hsa-miR-1275	CLIP-seq
MIRT946232	hsa-miR-3940-5p	CLIP-seq
MIRT946235	hsa-miR-4428	CLIP-seq
MIRT946236	hsa-miR-4507	CLIP-seq
MIRT946237	hsa-miR-4509	CLIP-seq
MIRT946240	hsa-miR-4665-5p	CLIP-seq
MIRT946241	hsa-miR-4698	CLIP-seq
MIRT946243	hsa-miR-4738-3p	CLIP-seq
MIRT946235	hsa-miR-4428	CLIP-seq
MIRT946237	hsa-miR-4509	CLIP-seq
MIRT946241	hsa-miR-4698	CLIP-seq

Show/Hide all(61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA
GO:0001533	Component	Cornified envelope	TAS
GO:0002934	Process	Desmosome organization	IEA
GO:0002934	Process	Desmosome organization	ISS	16917092
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS	16917092
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005080	Function	Protein kinase C binding	IPI	18474624
GO:0005198	Function	Structural molecule activity	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	9887343
GO:0005515	Function	Protein binding	IPI	10852826, 11790773, 12482924, 16917092, 19136012, 21062920, 23444369, 25225338, 25852190, 32707033
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	ISS	16917092
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11790773, 16917092
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0005916	Component	Fascia adherens	IEA
GO:0008544	Process	Epidermis development	TAS	9887343
GO:0014704	Component	Intercalated disc	IBA
GO:0014704	Component	Intercalated disc	IDA	22781308, 22889254, 23381804
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0018149	Process	Peptide cross-linking	IDA
GO:0030057	Component	Desmosome	IDA	18343367, 20859650
GO:0030057	Component	Desmosome	IEA
GO:0030057	Component	Desmosome	ISS
GO:0030216	Process	Keratinocyte differentiation	IDA
GO:0034332	Process	Adherens junction organization	IEA
GO:0042060	Process	Wound healing	IBA
GO:0043588	Process	Skin development	IBA
GO:0043588	Process	Skin development	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045109	Process	Intermediate filament organization	ISS	16917092
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337
GO:0070161	Component	Anchoring junction	IEA
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	12373648
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	12373648
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	12373648
GO:0090136	Process	Epithelial cell-cell adhesion	IMP	27892606
GO:0097110	Function	Scaffold protein binding	IPI	10852826
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	12373648
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:0150105	Process	Protein localization to cell-cell junction	IEA
GO:0150105	Process	Protein localization to cell-cell junction	ISS	16917092

MIM	HGNC	e!Ensembl
125647	3052	ENSG00000096696

Protein

UniProt ID

P15924

Protein name

Desmoplakin (DP) (250/210 kDa paraneoplastic pemphigus antigen)

Protein function

Major high molecular weight protein of desmosomes. Regulates profibrotic gene expression in cardiomyocytes via activation of the MAPK14/p38 MAPK signaling cascade and increase in TGFB1 protein abundance (By similarity). {ECO:0000250|UniProtKB:F1

PDB

1LM5 , 1LM7 , 3R6N , 5DZZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17902	SH3_10	447 → 513	SH3 domain	Domain
PF18373	Spectrin_like	548 → 625	Spectrin like domain	Domain
PF00681	Plectin	2047 → 2086	Plectin repeat	Repeat
PF00681	Plectin	2123 → 2163	Plectin repeat	Repeat
PF00681	Plectin	2252 → 2292	Plectin repeat	Repeat
PF00681	Plectin	2290 → 2330	Plectin repeat	Repeat
PF00681	Plectin	2366 → 2406	Plectin repeat	Repeat
PF00681	Plectin	2467 → 2497	Plectin repeat	Repeat
PF00681	Plectin	2649 → 2689	Plectin repeat	Repeat
PF00681	Plectin	2725 → 2765	Plectin repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in oral mucosa (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528). Expressed in the heart in the heart (at protein level) (PubMed:18662195). {ECO:0000269|PubMed:186621

Sequence

MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITDQNSDGYCQTG
TMSRHQNQNTIQELLQNCSDCLMRAELIVQPELKYGDGIQLTRSRELDECFAQANDQMEI
LDSLIREMRQMGQPCDAYQKRLLQLQEQMRALYKAISVPRVRRASSKGGGGYTCQSGSGW
DEFTKHVTSECLGWMRQQRAEMDMVAWGVDLASVEQHINSHRGIHNSIGDYRWQLDKIKA
DLREKSAIYQLEEEYENLLKASFERMDHLRQLQNIIQATSREIMWINDCEEEELLYDWSD
KNTNIAQKQEAFSIRMSQLEVKEKELNKLKQESDQLVLNQHPASDKIEAYMDTLQTQWSW
ILQITKCIDVHLKENAAYFQFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKE
LEKEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGD
ECILKDNNERSKWYVTGPGGVDMLVPSVGLIIPPPNPLAVDLSCKIEQYYEAILALWNQL
YINMKSLVSWHYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMF
GDDDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVNHNKVIETNRE
NDKQETWMLMELQKIRRQIEHCEGRMTLKNLPLADQGSSHHITVKINELKSVQNDSQAIA
EVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTVRALLQAILQT
EDMLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHS
QTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDKQIDFRLWDLEKQIKQLRNYRDNYQAFCK
WLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKD
YELQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEM
LKSLEDLKLKNTKIEVLEEELRLARDANSENCNKNKFLDQNLQKYQAECSQFKAKLASLE
ELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIEDEKRRRKSVEDRFDQQKNDYD
QLQKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKVRNHYN
EEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLKDEIVRLNDSI
LQATEQRRRAEENALQQKACGSEIMQKKQHLEIELKQVMQQRSEDNARHKQSLEEAAKTI
QDKNKEIERLKAEFQEEAKRRWEYENELSKVRNNYDEEIISLKNQFETEINITKTTIHQL
TMQKEEDTSGYRAQIDNLTRENRSLSEEIKRLKNTLTQTTENLRRVEEDIQQQKATGSEV
SQRKQQLEVELRQVTQMRTEESVRYKQSLDDAAKTIQDKNKEIERLKQLIDKETNDRKCL
EDENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRIDYERVSQERTVKDQDITRFQ
NSLKELQLQKQKVEEELNRLKRTASEDSCKRKKLEEELEGMRRSLKEQAIKITNLTQQLE
QASIVKKRSEDDLRQQRDVLDGHLREKQRTQEELRRLSSEVEALRRQLLQEQESVKQAHL
RNEHFQKAIEDKSRSLNESKIEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSE
ADSDKNATILELRSQLQISNNRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQE
SKNQCTQVVQERESLLVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQI
QNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAEIKRIEERCRRKLEDS
TRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQL
YECQLIDKTTLDKLLKGKKSVEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLI
SPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPF
SGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYR
SLNDPRDSQKNFVDPVTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVT
ELVDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKI
GLVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYN
DPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEE
LSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNT
LRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLV
DRKTGSQYDIQDAIDKGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDD
VFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERG
IVDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEG
VKGKKKMSAAEAVKEKWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRA
AQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGLRLLEAASVSSKGLPSPYNMS
SAPGSRSGSRSGSRSGSRSGSRSGSRRGSFDATGNSSYSYSYSFSSSSIGH

Sequence length

2871

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy		Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (12)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	rs869025395, rs397516943, rs1057517903, rs794728146, rs397516919, rs876657638, rs1581816089, rs397516923, rs727502993, rs794728137, rs140474226, rs397516946, rs397516955, rs1554108152, rs397516929 View all (16 more)	N/A
Arrhythmogenic right ventricular cardiomyopathy	Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 9	rs397516915, rs1057517903, rs1581799453, rs1060500607, rs1554108477, rs1561703331, rs794728146, rs1060500613, rs1554107839, rs1236464864, rs121912992, rs1554107916, rs794728111, rs777573018, rs727504443 View all (15 more)	N/A
cardiomyopathy	Cardiomyopathy	rs28763965, rs397516915, rs1561694696, rs794727381, rs794728124, rs1581813564, rs1060500610, rs1554105911, rs869025395, rs1561702640, rs794728106, rs1249913357, rs727505115, rs397516943, rs1057517903 View all (31 more)	N/A
Cardiomyopathy	Primary dilated cardiomyopathy	rs727504738, rs727505115, rs397516943, rs148894066, rs397516945, rs397516927, rs727502994, rs121912996, rs1554108012, rs879255521, rs727504498, rs1561703922, rs869025398, rs397516956, rs730880093, rs397516973, rs869025399, rs587782927 View all (3 more)	N/A
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	rs606231293, rs606231294, rs606231295, rs879254352, rs397516927, rs1184921987, rs1554107096, rs1554107098	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1A	rs770873593	N/A
Keratosis Palmoplantaris Striata	Keratosis palmoplantaris striata 2	rs121912991, rs727504443	N/A
Long QT Syndrome	long qt syndrome 1	rs746877365	N/A
Palmoplantar Keratoderma And Woolly Hair	Woolly hair-skin fragility syndrome	rs1554108431	N/A
cardiac arrhythmia	Cardiac arrhythmia	rs794728146, rs1581823931, rs397516955	N/A
Heart Block	Progressive familial heart block	rs1135401735	N/A
Myocarditis	myocarditis	rs28763965	N/A

Show/Hide Unknown Diseases (16)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Brugada Syndrome	brugada syndrome 1	N/A	N/A	ClinVar
Catecholaminergic Polymorphic Ventricular Tachycardia	Catecholaminergic polymorphic ventricular tachycardia 1	N/A	N/A	ClinVar
chronic obstructive pulmonary disease	Chronic obstructive pulmonary disease	N/A	N/A	ClinVar
Epidermolysis Bullosa	lethal acantholytic epidermolysis bullosa	N/A	N/A	GenCC
Epidermolysis Bullosa Simplex	Epidermolysis bullosa simplex due to plakophilin deficiency	N/A	N/A	ClinVar
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 2	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar, GenCC
Interstitial Lung Disease	Interstitial lung disease 2	N/A	N/A	ClinVar
Left Ventricular Hypertrophy	left ventricular hypertrophy	N/A	N/A	ClinVar
Left ventricular noncompaction	left ventricular noncompaction	N/A	N/A	ClinVar
Myopathy	arrhythmogenic cardiomyopathy with wooly hair and keratoderma	N/A	N/A	GenCC
Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	N/A	N/A	GWAS
Restrictive cardiomyopathy	restrictive cardiomyopathy	N/A	N/A	ClinVar
Ventricular Fibrillation	ventricular fibrillation, Ventricular fibrillation, paroxysmal familial, type 1	N/A	N/A	ClinVar
ventricular tachycardia	Ventricular tachycardia	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (114)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abrikosov's tumor	Inhibit	28323918
Acrocephalosyndactylia	Associate	39523938
Alveolitis Extrinsic Allergic	Associate	34996848
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	33076992
Arrhythmias Cardiac	Associate	31484862, 32005173, 32062131, 32410525, 32706220, 34132777, 34343150, 34352074, 35445468, 35470109, 37632291, 39551029
Arrhythmogenic Right Ventricular Dysplasia	Associate	12373648, 12875771, 16175511, 16415378, 16698823, 17033975, 17924338, 18596851, 18632414, 20124997, 20152563, 21636032, 22214898, 22949226, 24503780 View all (40 more)
Arrhythmogenic Right Ventricular Dysplasia Familial 2	Associate	34087998
Blister	Associate	35008956
Bohring syndrome	Associate	32969603
Brain Neoplasms	Associate	31610812
Breast Neoplasms	Associate	15084247, 9195978
Brugada Syndrome	Associate	26585738
Bundle Branch Block	Associate	31484862
Carcinoma Hepatocellular	Associate	22132232
Carcinoma Non Small Cell Lung	Associate	23369236
Carcinoma Squamous Cell	Stimulate	16489176
Cardiac Conduction System Disease	Associate	39551029
Cardiomyopathies	Associate	12373648, 12875771, 16467215, 19924139, 21789513, 26604139, 28359509, 32005173, 32372669, 32942234, 33684294, 33874732, 34338756, 34343150, 35325485, 35445468, 36768812 View all (2 more)
Cardiomyopathy Dilated	Associate	11841538, 16698823, 24503780, 31024045, 31770195, 31983221, 32005173, 32969603, 34213952, 34343150, 35445468, 36129056, 36672924, 36768812, 37562008, 37632291 View all (1 more)
Cardiomyopathy Dilated	Inhibit	28934278
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	30371277
Cardiomyopathy dilated with woolly hair and keratoderma	Associate	16175511, 21789513, 22949226, 30944905, 34343150, 35210635, 37143080
Cardiomyopathy Hypertrophic	Associate	28699631, 32344918
Cardiomyopathy Right Ventricular Dilated	Associate	32372669, 32942234, 35445468
Chemical and Drug Induced Liver Injury	Associate	32372669
COVID 19	Associate	40076669
Crohn Disease	Associate	28490445
Darier Disease	Associate	14675181, 22277942
Death	Associate	35470109
Death Sudden	Associate	26585738
Death Sudden Cardiac	Associate	20435227, 32942234, 37885024
Dentinogenesis Imperfecta	Associate	17686168
Dermatitis	Associate	26073755
Disease	Associate	39369039
Disease Progression	Associate	32706220
Drug Hypersensitivity	Associate	26073755
Drug Related Side Effects and Adverse Reactions	Associate	22132232
Dystonic Disorders	Associate	12875771
Early Onset Glaucoma	Associate	26585738
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	11841538, 16175511
Ectrodactyly cardiopathy dysmorphism	Associate	35819174
Edema	Associate	32005173
Ehlers Danlos syndrome type 3	Associate	27518164
Emphysema	Associate	31324189
Eosinophilic Esophagitis	Associate	34815391
Epidermolysis bullosa lethal acantholytic	Associate	16175511
Erythrokeratodermia Variabilis	Associate	34343150
Erythrokeratodermia with ataxia	Associate	26604139
Esophageal Squamous Cell Carcinoma	Associate	24568510
Fibrosis	Associate	19924139
Genetic Diseases Inborn	Associate	11841538
Heart Arrest	Associate	36631170
Heart Defects Congenital	Associate	37632291
Heart Diseases	Associate	22949226, 30944905, 32062131, 32410525, 32706220, 34343150, 34815391, 35325485
Heart Failure	Associate	16467215, 21789513, 32942234, 35470109, 39523938
Heart Failure	Stimulate	34352074
Hodgkin Disease	Stimulate	32372669
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	39523938
Idiopathic Pulmonary Fibrosis	Associate	26669357, 29066090, 31324189, 31339356, 32551799, 33076992, 34515605, 35816432
Inflammation	Associate	32005173
Insulin Resistance	Associate	22132232
Intracranial Arteriovenous Malformations	Associate	32281240
Isolated Noncompaction of the Ventricular Myocardium	Associate	21789513, 33478057
Keratoderma Palmoplantar	Associate	10594734, 11841538, 12373648, 16698823, 21789513, 35325485, 35445468
Keratosis palmoplantaris striata 1	Associate	10594734, 11841538, 11982762, 19157795
LEOPARD Syndrome	Associate	26604139
Low Tension Glaucoma	Associate	35075201
Lymphoma	Associate	24260260
Lymphoma B Cell Marginal Zone	Associate	26850880
Metabolic Syndrome	Associate	26073755
Microscopic Polyangiitis	Associate	33076992
Myocarditis	Associate	32410525, 36768812
Naxos disease	Associate	16175511, 16698823, 22949226, 34343150, 35210635
Neoplasm Metastasis	Associate	25295583, 34455760, 35003328
Neoplasms	Associate	16489176, 24260260, 33106375, 34455760
Neoplastic Syndromes Hereditary	Associate	34343150
Neuroectodermal Tumors Primitive	Associate	15920547
Neurologic Manifestations	Associate	35445468
Non alcoholic Fatty Liver Disease	Associate	22132232
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	34343150
Osteoarthritis	Associate	23546957
Ovarian Neoplasms	Associate	7527220
Paroxysmal ventricular fibrillation	Associate	37949661
Pathological Conditions Anatomical	Associate	11841538
Pemphigus	Associate	25010392
Polycythemia Vera	Associate	35819174
Post Acute COVID 19 Syndrome	Associate	40076669
Primary Ovarian Insufficiency	Associate	25084053
Pulmonary Arterial Hypertension	Associate	40483843
Pulmonary Disease Chronic Obstructive	Associate	31324189, 35857525, 36698131, 36780661
Pulmonary Fibrosis	Associate	28166215
Sarcoma Ewing	Associate	15920547
Sarcoma Synovial	Associate	1704194
Scleroderma Systemic	Associate	26792595
Sick Sinus Syndrome	Associate	32062131
Skin Abnormalities	Associate	19924139, 30944905
Skin Diseases	Associate	12875771, 34343150
Slow Virus Diseases	Associate	32706220
Status Asthmaticus	Associate	31889146
Sudden Unexpected Death in Epilepsy	Associate	27135274
Syncope	Associate	37143080
Syndrome	Associate	35325485
Tachycardia Ventricular	Associate	38206261, 39551029
Tricuspid Valve Insufficiency	Associate	31770195
Varicose Veins	Associate	15744037
Vascular Remodeling	Associate	32706220
Vasculitis	Associate	33076992
Vasculitis Leukocytoclastic Cutaneous	Associate	37143080
Vasospasm Intracranial	Associate	36631170
Ventricular Dysfunction Left	Associate	16698823, 32005173, 32372669, 35470109, 35819174, 36768812
Ventricular Dysfunction Right	Associate	35470109
Ventricular Fibrillation	Associate	31484862, 36631170
Ventricular Premature Complexes	Associate	35445468
Woolly hair congenital	Associate	11841538, 16175511

DSP (desmoplakin)