JUP (junction plakoglobin)

Gene

• Entrez ID: 3728
• Gene name: Junction plakoglobin
• Gene symbol: JUP
• Synonyms (NCBI Gene): CTNNG, DP3, DPIII, PDGB, PG, PKGB
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994176	CTG>-,CTGCTG	Pathogenic, uncertain-significance	Inframe insertion, coding sequence variant, inframe deletion
rs113994177	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs193922705	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign-likely-benign, benign	Intron variant
rs199826380	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200740462	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs373761090	C>T	Likely-pathogenic	Splice donor variant
rs555499592	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs781900856	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs782058451	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs782392706	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs782440692	C>T	Pathogenic	Missense variant, coding sequence variant
rs782460555	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs782702266	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794729052	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs797046139	G>A	Pathogenic	Coding sequence variant, stop gained
rs886037753	C>A,T	Pathogenic	Coding sequence variant, synonymous variant
rs897549158	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1555606936	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597781765	C>T	Likely-pathogenic	Splice donor variant
rs1597782553	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597801392	GCTTCACG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016884	hsa-miR-335-5p	Microarray	18185580
MIRT020514	hsa-miR-155-5p	Proteomics	18668040
MIRT022247	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023549	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT028441	hsa-miR-30a-5p	Proteomics	18668040
MIRT047927	hsa-miR-30c-5p	CLASH	23622248
MIRT039967	hsa-miR-615-3p	CLASH	23622248
MIRT1078279	hsa-miR-103a	CLIP-seq
MIRT1078280	hsa-miR-107	CLIP-seq
MIRT1078281	hsa-miR-1207-3p	CLIP-seq
MIRT1078282	hsa-miR-1252	CLIP-seq
MIRT1078283	hsa-miR-1275	CLIP-seq
MIRT1078284	hsa-miR-127-5p	CLIP-seq
MIRT1078285	hsa-miR-1291	CLIP-seq
MIRT1078286	hsa-miR-1293	CLIP-seq
MIRT1078287	hsa-miR-129-3p	CLIP-seq
MIRT1078288	hsa-miR-1296	CLIP-seq
MIRT1078289	hsa-miR-1302	CLIP-seq
MIRT1078290	hsa-miR-1321	CLIP-seq
MIRT1078291	hsa-miR-147	CLIP-seq
MIRT1078292	hsa-miR-1908	CLIP-seq
MIRT1078293	hsa-miR-1912	CLIP-seq
MIRT1078294	hsa-miR-193a-5p	CLIP-seq
MIRT1078295	hsa-miR-197	CLIP-seq
MIRT1078296	hsa-miR-1972	CLIP-seq
MIRT1078297	hsa-miR-214	CLIP-seq
MIRT1078298	hsa-miR-2909	CLIP-seq
MIRT1078299	hsa-miR-296-5p	CLIP-seq
MIRT1078300	hsa-miR-3135b	CLIP-seq
MIRT1078301	hsa-miR-3150a-3p	CLIP-seq
MIRT1078302	hsa-miR-3157-5p	CLIP-seq
MIRT1078303	hsa-miR-3175	CLIP-seq
MIRT1078304	hsa-miR-3180	CLIP-seq
MIRT1078305	hsa-miR-3180-3p	CLIP-seq
MIRT1078306	hsa-miR-3184	CLIP-seq
MIRT1078307	hsa-miR-3196	CLIP-seq
MIRT1078308	hsa-miR-3197	CLIP-seq
MIRT1078309	hsa-miR-329	CLIP-seq
MIRT1078310	hsa-miR-335	CLIP-seq
MIRT1078311	hsa-miR-3591-5p	CLIP-seq
MIRT1078312	hsa-miR-3612	CLIP-seq
MIRT1078313	hsa-miR-3619-5p	CLIP-seq
MIRT1078314	hsa-miR-362-3p	CLIP-seq
MIRT1078315	hsa-miR-3652	CLIP-seq
MIRT1078316	hsa-miR-3667-5p	CLIP-seq
MIRT1078317	hsa-miR-3677-5p	CLIP-seq
MIRT1078318	hsa-miR-3689d	CLIP-seq
MIRT1078319	hsa-miR-3690	CLIP-seq
MIRT1078320	hsa-miR-3911	CLIP-seq
MIRT1078321	hsa-miR-3914	CLIP-seq
MIRT1078322	hsa-miR-3918	CLIP-seq
MIRT1078323	hsa-miR-3919	CLIP-seq
MIRT1078324	hsa-miR-3944-5p	CLIP-seq
MIRT1078325	hsa-miR-423-5p	CLIP-seq
MIRT1078326	hsa-miR-4254	CLIP-seq
MIRT1078327	hsa-miR-4270	CLIP-seq
MIRT1078328	hsa-miR-4292	CLIP-seq
MIRT1078329	hsa-miR-4298	CLIP-seq
MIRT1078330	hsa-miR-4308	CLIP-seq
MIRT1078331	hsa-miR-4430	CLIP-seq
MIRT1078332	hsa-miR-4435	CLIP-seq
MIRT1078333	hsa-miR-4436a	CLIP-seq
MIRT1078334	hsa-miR-4436b-3p	CLIP-seq
MIRT1078335	hsa-miR-4441	CLIP-seq
MIRT1078336	hsa-miR-4443	CLIP-seq
MIRT1078337	hsa-miR-4455	CLIP-seq
MIRT1078338	hsa-miR-4460	CLIP-seq
MIRT1078339	hsa-miR-4464	CLIP-seq
MIRT1078340	hsa-miR-4468	CLIP-seq
MIRT1078341	hsa-miR-4483	CLIP-seq
MIRT1078342	hsa-miR-4488	CLIP-seq
MIRT1078343	hsa-miR-4497	CLIP-seq
MIRT1078344	hsa-miR-4514	CLIP-seq
MIRT1078345	hsa-miR-4525	CLIP-seq
MIRT1078346	hsa-miR-4645-5p	CLIP-seq
MIRT1078347	hsa-miR-4648	CLIP-seq
MIRT1078348	hsa-miR-4650-5p	CLIP-seq
MIRT1078349	hsa-miR-4651	CLIP-seq
MIRT1078350	hsa-miR-4665-5p	CLIP-seq
MIRT1078351	hsa-miR-4667-5p	CLIP-seq
MIRT1078352	hsa-miR-4668-5p	CLIP-seq
MIRT1078353	hsa-miR-4673	CLIP-seq
MIRT1078354	hsa-miR-4685-5p	CLIP-seq
MIRT1078355	hsa-miR-4691-3p	CLIP-seq
MIRT1078356	hsa-miR-4692	CLIP-seq
MIRT1078357	hsa-miR-4697-5p	CLIP-seq
MIRT1078358	hsa-miR-4700-5p	CLIP-seq
MIRT1078359	hsa-miR-4706	CLIP-seq
MIRT1078360	hsa-miR-4722-5p	CLIP-seq
MIRT1078361	hsa-miR-4723-5p	CLIP-seq
MIRT1078362	hsa-miR-4727-3p	CLIP-seq
MIRT1078363	hsa-miR-4728-5p	CLIP-seq
MIRT1078364	hsa-miR-4731-5p	CLIP-seq
MIRT1078365	hsa-miR-4733-5p	CLIP-seq
MIRT1078366	hsa-miR-4739	CLIP-seq
MIRT1078367	hsa-miR-4748	CLIP-seq
MIRT1078368	hsa-miR-4749-5p	CLIP-seq
MIRT1078369	hsa-miR-4751	CLIP-seq
MIRT1078370	hsa-miR-4756-5p	CLIP-seq
MIRT1078371	hsa-miR-4761-3p	CLIP-seq
MIRT1078372	hsa-miR-485-5p	CLIP-seq
MIRT1078373	hsa-miR-490-3p	CLIP-seq
MIRT1078374	hsa-miR-516b	CLIP-seq
MIRT1078375	hsa-miR-541	CLIP-seq
MIRT1078376	hsa-miR-570	CLIP-seq
MIRT1078377	hsa-miR-608	CLIP-seq
MIRT1078378	hsa-miR-625	CLIP-seq
MIRT1078379	hsa-miR-627	CLIP-seq
MIRT1078380	hsa-miR-637	CLIP-seq
MIRT1078381	hsa-miR-644	CLIP-seq
MIRT1078382	hsa-miR-650	CLIP-seq
MIRT1078383	hsa-miR-654-5p	CLIP-seq
MIRT1078384	hsa-miR-663	CLIP-seq
MIRT1078385	hsa-miR-711	CLIP-seq
MIRT1078386	hsa-miR-761	CLIP-seq
MIRT1078387	hsa-miR-924	CLIP-seq
MIRT1078388	hsa-miR-939	CLIP-seq
MIRT1550384	hsa-miR-1299	CLIP-seq
MIRT1550385	hsa-miR-3182	CLIP-seq
MIRT1550386	hsa-miR-320e	CLIP-seq
MIRT1550387	hsa-miR-4642	CLIP-seq
MIRT1550388	hsa-miR-4720-5p	CLIP-seq
MIRT1550389	hsa-miR-4782-5p	CLIP-seq
MIRT1550390	hsa-miR-4799-3p	CLIP-seq
MIRT1078374	hsa-miR-516b	CLIP-seq
MIRT1078279	hsa-miR-103a	CLIP-seq
MIRT1078280	hsa-miR-107	CLIP-seq
MIRT1078281	hsa-miR-1207-3p	CLIP-seq
MIRT1078282	hsa-miR-1252	CLIP-seq
MIRT2019506	hsa-miR-125a-3p	CLIP-seq
MIRT1078283	hsa-miR-1275	CLIP-seq
MIRT1078285	hsa-miR-1291	CLIP-seq
MIRT1078286	hsa-miR-1293	CLIP-seq
MIRT2019507	hsa-miR-1294	CLIP-seq
MIRT1078288	hsa-miR-1296	CLIP-seq
MIRT1550384	hsa-miR-1299	CLIP-seq
MIRT1078289	hsa-miR-1302	CLIP-seq
MIRT1078290	hsa-miR-1321	CLIP-seq
MIRT1078291	hsa-miR-147	CLIP-seq
MIRT1078293	hsa-miR-1912	CLIP-seq
MIRT1078297	hsa-miR-214	CLIP-seq
MIRT2019508	hsa-miR-2355-5p	CLIP-seq
MIRT1078298	hsa-miR-2909	CLIP-seq
MIRT1078299	hsa-miR-296-5p	CLIP-seq
MIRT1078300	hsa-miR-3135b	CLIP-seq
MIRT1078302	hsa-miR-3157-5p	CLIP-seq
MIRT1550385	hsa-miR-3182	CLIP-seq
MIRT1078306	hsa-miR-3184	CLIP-seq
MIRT1078309	hsa-miR-329	CLIP-seq
MIRT2019509	hsa-miR-331-3p	CLIP-seq
MIRT1078310	hsa-miR-335	CLIP-seq
MIRT1078312	hsa-miR-3612	CLIP-seq
MIRT1078313	hsa-miR-3619-5p	CLIP-seq
MIRT1078314	hsa-miR-362-3p	CLIP-seq
MIRT1078315	hsa-miR-3652	CLIP-seq
MIRT2019510	hsa-miR-3665	CLIP-seq
MIRT2019511	hsa-miR-3680	CLIP-seq
MIRT1078318	hsa-miR-3689d	CLIP-seq
MIRT1078319	hsa-miR-3690	CLIP-seq
MIRT1078320	hsa-miR-3911	CLIP-seq
MIRT1078321	hsa-miR-3914	CLIP-seq
MIRT2019512	hsa-miR-3915	CLIP-seq
MIRT1078323	hsa-miR-3919	CLIP-seq
MIRT2019513	hsa-miR-3928	CLIP-seq
MIRT1078324	hsa-miR-3944-5p	CLIP-seq
MIRT1078325	hsa-miR-423-5p	CLIP-seq
MIRT1078326	hsa-miR-4254	CLIP-seq
MIRT2019514	hsa-miR-4267	CLIP-seq
MIRT1078327	hsa-miR-4270	CLIP-seq
MIRT2019515	hsa-miR-4276	CLIP-seq
MIRT2019516	hsa-miR-4279	CLIP-seq
MIRT1078328	hsa-miR-4292	CLIP-seq
MIRT1078329	hsa-miR-4298	CLIP-seq
MIRT1078330	hsa-miR-4308	CLIP-seq
MIRT2019517	hsa-miR-4316	CLIP-seq
MIRT1078331	hsa-miR-4430	CLIP-seq
MIRT1078334	hsa-miR-4436b-3p	CLIP-seq
MIRT1078335	hsa-miR-4441	CLIP-seq
MIRT1078336	hsa-miR-4443	CLIP-seq
MIRT1078337	hsa-miR-4455	CLIP-seq
MIRT1078339	hsa-miR-4464	CLIP-seq
MIRT1078341	hsa-miR-4483	CLIP-seq
MIRT1078342	hsa-miR-4488	CLIP-seq
MIRT1078343	hsa-miR-4497	CLIP-seq
MIRT1078344	hsa-miR-4514	CLIP-seq
MIRT1078345	hsa-miR-4525	CLIP-seq
MIRT1078346	hsa-miR-4645-5p	CLIP-seq
MIRT1078347	hsa-miR-4648	CLIP-seq
MIRT2019518	hsa-miR-4653-3p	CLIP-seq
MIRT1078350	hsa-miR-4665-5p	CLIP-seq
MIRT2019519	hsa-miR-4670-3p	CLIP-seq
MIRT1078353	hsa-miR-4673	CLIP-seq
MIRT1078355	hsa-miR-4691-3p	CLIP-seq
MIRT1078356	hsa-miR-4692	CLIP-seq
MIRT1078357	hsa-miR-4697-5p	CLIP-seq
MIRT2019520	hsa-miR-4707-5p	CLIP-seq
MIRT1078361	hsa-miR-4723-5p	CLIP-seq
MIRT1078364	hsa-miR-4731-5p	CLIP-seq
MIRT1078366	hsa-miR-4739	CLIP-seq
MIRT1078367	hsa-miR-4748	CLIP-seq
MIRT1078370	hsa-miR-4756-5p	CLIP-seq
MIRT1078371	hsa-miR-4761-3p	CLIP-seq
MIRT1550389	hsa-miR-4782-5p	CLIP-seq
MIRT2019521	hsa-miR-483-3p	CLIP-seq
MIRT1078372	hsa-miR-485-5p	CLIP-seq
MIRT1078374	hsa-miR-516b	CLIP-seq
MIRT2019522	hsa-miR-539	CLIP-seq
MIRT1078378	hsa-miR-625	CLIP-seq
MIRT1078380	hsa-miR-637	CLIP-seq
MIRT1078381	hsa-miR-644	CLIP-seq
MIRT1078382	hsa-miR-650	CLIP-seq
MIRT1078386	hsa-miR-761	CLIP-seq
MIRT1078279	hsa-miR-103a	CLIP-seq
MIRT1078280	hsa-miR-107	CLIP-seq
MIRT1078281	hsa-miR-1207-3p	CLIP-seq
MIRT2251334	hsa-miR-1225-5p	CLIP-seq
MIRT1078282	hsa-miR-1252	CLIP-seq
MIRT2251335	hsa-miR-125a-5p	CLIP-seq
MIRT2251336	hsa-miR-125b	CLIP-seq
MIRT1078283	hsa-miR-1275	CLIP-seq
MIRT1078285	hsa-miR-1291	CLIP-seq
MIRT2019507	hsa-miR-1294	CLIP-seq
MIRT1078288	hsa-miR-1296	CLIP-seq
MIRT1078289	hsa-miR-1302	CLIP-seq
MIRT1078290	hsa-miR-1321	CLIP-seq
MIRT2251337	hsa-miR-184	CLIP-seq
MIRT1078294	hsa-miR-193a-5p	CLIP-seq
MIRT1078295	hsa-miR-197	CLIP-seq
MIRT1078297	hsa-miR-214	CLIP-seq
MIRT1078298	hsa-miR-2909	CLIP-seq
MIRT1078300	hsa-miR-3135b	CLIP-seq
MIRT1078302	hsa-miR-3157-5p	CLIP-seq
MIRT1078306	hsa-miR-3184	CLIP-seq
MIRT1078308	hsa-miR-3197	CLIP-seq
MIRT1078309	hsa-miR-329	CLIP-seq
MIRT2019509	hsa-miR-331-3p	CLIP-seq
MIRT1078310	hsa-miR-335	CLIP-seq
MIRT1078312	hsa-miR-3612	CLIP-seq
MIRT1078313	hsa-miR-3619-5p	CLIP-seq
MIRT1078314	hsa-miR-362-3p	CLIP-seq
MIRT1078316	hsa-miR-3667-5p	CLIP-seq
MIRT2019511	hsa-miR-3680	CLIP-seq
MIRT1078319	hsa-miR-3690	CLIP-seq
MIRT1078321	hsa-miR-3914	CLIP-seq
MIRT2019512	hsa-miR-3915	CLIP-seq
MIRT1078323	hsa-miR-3919	CLIP-seq
MIRT2019513	hsa-miR-3928	CLIP-seq
MIRT1078324	hsa-miR-3944-5p	CLIP-seq
MIRT1078325	hsa-miR-423-5p	CLIP-seq
MIRT1078326	hsa-miR-4254	CLIP-seq
MIRT1078327	hsa-miR-4270	CLIP-seq
MIRT2019516	hsa-miR-4279	CLIP-seq
MIRT1078328	hsa-miR-4292	CLIP-seq
MIRT1078329	hsa-miR-4298	CLIP-seq
MIRT1078330	hsa-miR-4308	CLIP-seq
MIRT2019517	hsa-miR-4316	CLIP-seq
MIRT2251338	hsa-miR-4319	CLIP-seq
MIRT1078334	hsa-miR-4436b-3p	CLIP-seq
MIRT1078335	hsa-miR-4441	CLIP-seq
MIRT1078336	hsa-miR-4443	CLIP-seq
MIRT1078337	hsa-miR-4455	CLIP-seq
MIRT1078339	hsa-miR-4464	CLIP-seq
MIRT1078342	hsa-miR-4488	CLIP-seq
MIRT2251339	hsa-miR-4506	CLIP-seq
MIRT1078344	hsa-miR-4514	CLIP-seq
MIRT1078345	hsa-miR-4525	CLIP-seq
MIRT2251340	hsa-miR-4539	CLIP-seq
MIRT1550387	hsa-miR-4642	CLIP-seq
MIRT1078346	hsa-miR-4645-5p	CLIP-seq
MIRT1078347	hsa-miR-4648	CLIP-seq
MIRT1078350	hsa-miR-4665-5p	CLIP-seq
MIRT1078352	hsa-miR-4668-5p	CLIP-seq
MIRT2019519	hsa-miR-4670-3p	CLIP-seq
MIRT1078353	hsa-miR-4673	CLIP-seq
MIRT1078355	hsa-miR-4691-3p	CLIP-seq
MIRT1078356	hsa-miR-4692	CLIP-seq
MIRT1078357	hsa-miR-4697-5p	CLIP-seq
MIRT1550388	hsa-miR-4720-5p	CLIP-seq
MIRT1078361	hsa-miR-4723-5p	CLIP-seq
MIRT1078364	hsa-miR-4731-5p	CLIP-seq
MIRT2251341	hsa-miR-4732-3p	CLIP-seq
MIRT1078366	hsa-miR-4739	CLIP-seq
MIRT2251342	hsa-miR-4746-5p	CLIP-seq
MIRT1078367	hsa-miR-4748	CLIP-seq
MIRT2251343	hsa-miR-4749-3p	CLIP-seq
MIRT1078369	hsa-miR-4751	CLIP-seq
MIRT1078370	hsa-miR-4756-5p	CLIP-seq
MIRT1078371	hsa-miR-4761-3p	CLIP-seq
MIRT1550390	hsa-miR-4799-3p	CLIP-seq
MIRT2251344	hsa-miR-4804-5p	CLIP-seq
MIRT2019521	hsa-miR-483-3p	CLIP-seq
MIRT1078372	hsa-miR-485-5p	CLIP-seq
MIRT1078373	hsa-miR-490-3p	CLIP-seq
MIRT1078374	hsa-miR-516b	CLIP-seq
MIRT1078376	hsa-miR-570	CLIP-seq
MIRT1078378	hsa-miR-625	CLIP-seq
MIRT1078379	hsa-miR-627	CLIP-seq
MIRT1078380	hsa-miR-637	CLIP-seq
MIRT1078382	hsa-miR-650	CLIP-seq
MIRT2251345	hsa-miR-670	CLIP-seq
MIRT1078386	hsa-miR-761	CLIP-seq
MIRT1078387	hsa-miR-924	CLIP-seq
MIRT1078289	hsa-miR-1302	CLIP-seq
MIRT1078329	hsa-miR-4298	CLIP-seq
MIRT1078347	hsa-miR-4648	CLIP-seq
MIRT2452102	hsa-miR-1273f	CLIP-seq
MIRT1078303	hsa-miR-3175	CLIP-seq
MIRT2452103	hsa-miR-3689a-3p	CLIP-seq
MIRT2452104	hsa-miR-3689c	CLIP-seq
MIRT2452105	hsa-miR-4512	CLIP-seq
MIRT1078359	hsa-miR-4706	CLIP-seq
MIRT1078363	hsa-miR-4728-5p	CLIP-seq
MIRT1078368	hsa-miR-4749-5p	CLIP-seq
MIRT2452106	hsa-miR-4781-5p	CLIP-seq
MIRT2452107	hsa-miR-657	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DNMT3A	Unknown	17998942

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IGI	28115160
GO:0002159	Process	Desmosome assembly	IDA	9049256
GO:0002159	Process	Desmosome assembly	IEA
GO:0002159	Process	Desmosome assembly	IMP	20859650
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	14661054
GO:0005198	Function	Structural molecule activity	NAS	22889254
GO:0005515	Function	Protein binding	IPI	7650039, 7890674, 7983064, 10801826, 11790773, 12370829, 14661054, 16189514, 16917092, 17098867, 17924338, 19060904, 19136012, 20859650, 20936779, 24658140, 24965446, 25241761, 25416956, 26496610, 26871637, 28514442, 31515488, 31980649, 32296183, 33961781, 35384245, 39251607
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	14661054
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	14661054
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	ISS
GO:0005882	Component	Intermediate filament	IEA
GO:0005886	Component	Plasma membrane	IDA	14661054, 20859650
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	1639850, 7650039, 7983064, 10460003, 14661054
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	10403777
GO:0005912	Component	Adherens junction	IEA
GO:0005915	Component	Zonula adherens	ISS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0014704	Component	Intercalated disc	IDA	22781308, 22889254, 23381804
GO:0016020	Component	Membrane	IEA
GO:0016342	Component	Catenin complex	IBA
GO:0016342	Component	Catenin complex	IDA	7650039
GO:0016342	Component	Catenin complex	IEA
GO:0016477	Process	Cell migration	IMP	18937352
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0019903	Function	Protein phosphatase binding	IBA
GO:0019903	Function	Protein phosphatase binding	IPI	8663237
GO:0030018	Component	Z disc	IEA
GO:0030056	Component	Hemidesmosome	ISS
GO:0030057	Component	Desmosome	IDA	1639850, 2726765, 20859650
GO:0030057	Component	Desmosome	IEA
GO:0032993	Component	Protein-DNA complex	IDA	14661054
GO:0035580	Component	Specific granule lumen	TAS
GO:0042127	Process	Regulation of cell population proliferation	IDA	17924338
GO:0042307	Process	Positive regulation of protein import into nucleus	IDA	10825188, 14661054
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IGI	28115160
GO:0043588	Process	Skin development	IEA
GO:0045294	Function	Alpha-catenin binding	IBA
GO:0045294	Function	Alpha-catenin binding	IEA
GO:0045294	Function	Alpha-catenin binding	IPI	7650039, 7890674, 23136403
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IBA
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	IPI	1639850, 7650039
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IGI	28115160
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14661054
GO:0050839	Function	Cell adhesion molecule binding	IPI	17559062
GO:0050982	Process	Detection of mechanical stimulus	IDA	18937352
GO:0050982	Process	Detection of mechanical stimulus	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070161	Component	Anchoring junction	IEA
GO:0071603	Process	Endothelial cell-cell adhesion	ISS
GO:0071664	Component	Catenin-TCF7L2 complex	IEA
GO:0071665	Component	Gamma-catenin-TCF7L2 complex	IDA	14661054
GO:0071681	Process	Cellular response to indole-3-methanol	IDA	10868478
GO:0071681	Process	Cellular response to indole-3-methanol	IEA
GO:0072659	Process	Protein localization to plasma membrane	IMP	20859650
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	17924338
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	17924338
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	17924338
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IC	14661054
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IDA	18937352
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IMP	20859650
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	17924338
GO:0106006	Function	Cytoskeletal protein-membrane anchor activity	IDA	9049256
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 173325
• HGNC: 6207
• e!Ensembl: ENSG00000173801

Protein

• UniProt ID: P14923
• Protein name: Junction plakoglobin (Catenin gamma) (Desmoplakin III) (Desmoplakin-3)
• Protein function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of p
• PDB: 3IFQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	215 → 254	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	341 → 381	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	573 → 613	Armadillo/beta-catenin-like repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the heart (at protein level). {ECO:0000269|PubMed:33784018}.
• Sequence:

  MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTT
  YTQGVPPSQGDLEYQMSTTARAKRVREAMCPGVSGEDSSLLLATQVEGQATNLQRLAEPS
  QLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
  GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVE
  SVLFYAITTLHNLLLYQEGAKMAVRLADGLQKMVPLLNKNNPKFLAITTDCLQLLAYGNQ
  ESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
  LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTC
  NNSKNKTLVTQNSGVEALIHAILRAGDKDDITEPAVCALRHLTSRHPEAEMAQNSVRLNY
  GIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
  HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENI
  QRVAAGVLCELAQDKEAADAIDAEGASAPLMELLHSRNEGTATYAAAVLFRISEDKNPDY
  RKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDM
  DGDYPIDTYSDGLRPPYPTADHMLA

• Sequence length: 745

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arrhythmogenic right ventricular dysplasia 12	Likely pathogenic; Pathogenic	rs2143591648, rs2143651415, rs2143683612, rs2143697976, rs2143426682, rs2143456924, rs2143416425, rs2143680611, rs2544036992, rs2544179444, rs113994177, rs2544109573, rs1555602420, rs2544160342, rs2544050841, rs2544127550, rs1555606936, rs1597782553, rs1597801392, rs373761090, rs145592971	RCV001378185 RCV001386724 RCV001382051 RCV001999850 RCV001912788 RCV001959080 RCV001902132 RCV001918646 RCV002633309 RCV002993772 RCV001731287 RCV003783023 RCV003780349 RCV003787234 RCV003802076 RCV003810264 RCV001382209 RCV000795298 RCV000816517 RCV000821402 RCV001063665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy	Likely pathogenic	rs1915470891	RCV001170359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Naxos disease	Likely pathogenic; Pathogenic	rs2143591648, rs2143651415, rs2143683612, rs2143697976, rs2143426682, rs2143456924, rs2143416425, rs2143680611, rs2544036992, rs782460555, rs797046139, rs2544179444, rs113994177, rs2544109573, rs1555602420, rs2544160342, rs2544050841, rs2544127550, rs1340949974, rs1555602080, rs1555606936, rs1597782553, rs1597801392, rs373761090, rs145592971	RCV001378185 RCV001386724 RCV001382051 RCV001999850 RCV001912788 RCV001959080 RCV001902132 RCV001918646 RCV002633309 RCV000194470 RCV000193584 RCV002993772 RCV000014569 RCV003783023 RCV003780349 RCV003787234 RCV003802076 RCV003810264 RCV004018071 RCV004018072 RCV000531029 RCV000795298 RCV000816517 RCV000821402 RCV001063665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic	rs2544109091	RCV003233329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INHERITED EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUP-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular hypertrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
non-syndromic arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation, paroxysmal familial, type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	23110151		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	LHGDN	11984022, 17924338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	20124997, 20130592, 25445213, 25837155, 31275992, 33303784, 33831308, 37418234, 37995437, 39180012	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	20130592, 21245375, 22214898, 23871674, 25087486, 29802319, 31386562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Arrhythmogenic right ventricular cardiomyopathy	UNIPROT_DG	17924338, 20031617		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	23500315, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	23110151		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23110151		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23110151	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15942628		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27654269		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15187990	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33591636	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	33303784	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	20130592	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	21668431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24504536, 36036768, 38069408, 38203664	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23110151		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	36686464	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	LHGDN	16537559		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	12068170		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	39684780	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa, lethal acantholytic	Epidermolysis Bullosa	ORPHANET_DG	21320868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	36578035	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	31087453		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	25205790	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20130592, 33303784	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	21320868		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	23071139		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33591636	Inhibit	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	21320868		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33591636	Associate	★☆☆☆☆ Found in Text Mining only
Lethal acantholytic erosive disorder	Lethal Acantholytic Erosive Disorder	Orphanet			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33533127	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27654269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30171725		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15187990		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37924160	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Naxos disease	Naxos Disease	GENOMICS_ENGLAND_DG	19067702, 20130592, 21668431, 23500315, 27532257		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Naxos disease	Naxos Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Naxos disease	Naxos Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Naxos disease	Naxos Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasms	Neoplasms	BEFREE	14670177, 15187990		★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39684780	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23430405		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	31655798	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15781623		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33533127	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	40483843	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28185567	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	15701841		★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	20130592	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15916880		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	31420988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	37409971	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	26679092	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	14670177		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	14670177	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	15187990		★☆☆☆☆ Found in Text Mining only
Ulcer of esophagus	Ulcer Of Esophagus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34402716	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only