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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5317
Gene name	Plakophilin 1
Gene symbol	PKP1
Synonyms (NCBI Gene)	B6PEDSFS
Chromosome	1
Chromosome location	1q32.1
Summary	This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121918354	C>T	Pathogenic	Stop gained, coding sequence variant
rs483352688	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1131691647	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553275192	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1558193923	A>G,T	Pathogenic	Splice acceptor variant
rs1571557821	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571564381	G>A	Pathogenic	Splice donor variant

224

Show/Hide all (224)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019417	hsa-miR-148b-3p	Microarray	17612493
MIRT639435	hsa-miR-3973	HITS-CLIP	23824327
MIRT639434	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT639433	hsa-miR-520h	HITS-CLIP	23824327
MIRT639432	hsa-miR-4328	HITS-CLIP	23824327
MIRT639431	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT639430	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT639429	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT639428	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT639427	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT639426	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT639425	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT639424	hsa-miR-4264	HITS-CLIP	23824327
MIRT639423	hsa-miR-4749-3p	HITS-CLIP	23824327
MIRT639422	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT639421	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT639420	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT625974	hsa-miR-8485	HITS-CLIP	23824327
MIRT625973	hsa-miR-4643	HITS-CLIP	23824327
MIRT625972	hsa-miR-3939	HITS-CLIP	23824327
MIRT625971	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT625970	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT625969	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT528864	hsa-miR-124-3p	PAR-CLIP	22012620
MIRT528863	hsa-miR-483-3p	PAR-CLIP	22012620
MIRT528862	hsa-miR-4690-5p	PAR-CLIP	22012620
MIRT528861	hsa-miR-6736-3p	PAR-CLIP	22012620
MIRT528860	hsa-miR-4650-5p	PAR-CLIP	22012620
MIRT528859	hsa-miR-3921	PAR-CLIP	22012620
MIRT528858	hsa-miR-4653-5p	PAR-CLIP	22012620
MIRT528857	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT528856	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT528855	hsa-miR-605-3p	PAR-CLIP	22012620
MIRT528854	hsa-miR-4468	PAR-CLIP	22012620
MIRT528853	hsa-miR-767-5p	PAR-CLIP	22012620
MIRT528852	hsa-miR-593-5p	PAR-CLIP	22012620
MIRT528851	hsa-miR-6780a-3p	PAR-CLIP	22012620
MIRT528850	hsa-miR-4303	PAR-CLIP	22012620
MIRT639435	hsa-miR-3973	HITS-CLIP	23824327
MIRT639434	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT639433	hsa-miR-520h	HITS-CLIP	23824327
MIRT639432	hsa-miR-4328	HITS-CLIP	23824327
MIRT639431	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT639430	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT639429	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT639428	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT639427	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT639426	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT639425	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT639424	hsa-miR-4264	HITS-CLIP	23824327
MIRT639423	hsa-miR-4749-3p	HITS-CLIP	23824327
MIRT639422	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT639421	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT639420	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT625974	hsa-miR-8485	HITS-CLIP	23824327
MIRT625973	hsa-miR-4643	HITS-CLIP	23824327
MIRT625972	hsa-miR-3939	HITS-CLIP	23824327
MIRT625971	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT625970	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT625969	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT528864	hsa-miR-124-3p	PAR-CLIP	22012620
MIRT528863	hsa-miR-483-3p	PAR-CLIP	22012620
MIRT528862	hsa-miR-4690-5p	PAR-CLIP	22012620
MIRT528861	hsa-miR-6736-3p	PAR-CLIP	22012620
MIRT528860	hsa-miR-4650-5p	PAR-CLIP	22012620
MIRT528859	hsa-miR-3921	PAR-CLIP	22012620
MIRT528858	hsa-miR-4653-5p	PAR-CLIP	22012620
MIRT528857	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT528856	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT528855	hsa-miR-605-3p	PAR-CLIP	22012620
MIRT528854	hsa-miR-4468	PAR-CLIP	22012620
MIRT528853	hsa-miR-767-5p	PAR-CLIP	22012620
MIRT528852	hsa-miR-593-5p	PAR-CLIP	22012620
MIRT528851	hsa-miR-6780a-3p	PAR-CLIP	22012620
MIRT528850	hsa-miR-4303	PAR-CLIP	22012620
MIRT1238024	hsa-miR-125a-5p	CLIP-seq
MIRT1238025	hsa-miR-125b	CLIP-seq
MIRT1238026	hsa-miR-1271	CLIP-seq
MIRT1238027	hsa-miR-1284	CLIP-seq
MIRT1238028	hsa-miR-182	CLIP-seq
MIRT1238029	hsa-miR-3156-3p	CLIP-seq
MIRT1238030	hsa-miR-370	CLIP-seq
MIRT1238031	hsa-miR-4301	CLIP-seq
MIRT1238032	hsa-miR-4319	CLIP-seq
MIRT1238033	hsa-miR-4324	CLIP-seq
MIRT1238034	hsa-miR-4419a	CLIP-seq
MIRT1238035	hsa-miR-4470	CLIP-seq
MIRT1238036	hsa-miR-4510	CLIP-seq
MIRT1238037	hsa-miR-4693-3p	CLIP-seq
MIRT1238038	hsa-miR-4732-3p	CLIP-seq
MIRT1238039	hsa-miR-4775	CLIP-seq
MIRT1238040	hsa-miR-548l	CLIP-seq
MIRT1238041	hsa-miR-579	CLIP-seq
MIRT1238042	hsa-miR-670	CLIP-seq
MIRT1238043	hsa-miR-96	CLIP-seq
MIRT1238044	hsa-miR-1288	CLIP-seq
MIRT1238045	hsa-miR-1299	CLIP-seq
MIRT1238046	hsa-miR-214	CLIP-seq
MIRT1238047	hsa-miR-3120-5p	CLIP-seq
MIRT1238048	hsa-miR-3125	CLIP-seq
MIRT1238049	hsa-miR-3194-3p	CLIP-seq
MIRT1238050	hsa-miR-3615	CLIP-seq
MIRT1238051	hsa-miR-3619-5p	CLIP-seq
MIRT1238052	hsa-miR-3679-3p	CLIP-seq
MIRT1238030	hsa-miR-370	CLIP-seq
MIRT1238053	hsa-miR-378g	CLIP-seq
MIRT1238054	hsa-miR-3909	CLIP-seq
MIRT1238055	hsa-miR-3916	CLIP-seq
MIRT1238056	hsa-miR-3917	CLIP-seq
MIRT1238057	hsa-miR-4257	CLIP-seq
MIRT1238058	hsa-miR-4258	CLIP-seq
MIRT1238059	hsa-miR-4330	CLIP-seq
MIRT1238060	hsa-miR-4437	CLIP-seq
MIRT1238061	hsa-miR-4469	CLIP-seq
MIRT1238062	hsa-miR-4674	CLIP-seq
MIRT1238038	hsa-miR-4732-3p	CLIP-seq
MIRT1238063	hsa-miR-603	CLIP-seq
MIRT1238064	hsa-miR-626	CLIP-seq
MIRT1238065	hsa-miR-760	CLIP-seq
MIRT1238066	hsa-miR-761	CLIP-seq
MIRT1238067	hsa-miR-767-3p	CLIP-seq
MIRT1238068	hsa-miR-875-3p	CLIP-seq
MIRT2069997	hsa-miR-1205	CLIP-seq
MIRT2069998	hsa-miR-1207-3p	CLIP-seq
MIRT2069999	hsa-miR-1233	CLIP-seq
MIRT2070000	hsa-miR-1238	CLIP-seq
MIRT2070001	hsa-miR-124	CLIP-seq
MIRT2070002	hsa-miR-1286	CLIP-seq
MIRT2070003	hsa-miR-1289	CLIP-seq
MIRT2070004	hsa-miR-1298	CLIP-seq
MIRT2070005	hsa-miR-1343	CLIP-seq
MIRT2070006	hsa-miR-1976	CLIP-seq
MIRT2070007	hsa-miR-27a	CLIP-seq
MIRT2070008	hsa-miR-27b	CLIP-seq
MIRT2070009	hsa-miR-2861	CLIP-seq
MIRT2070010	hsa-miR-3121-5p	CLIP-seq
MIRT2070011	hsa-miR-3124-3p	CLIP-seq
MIRT2070012	hsa-miR-3190	CLIP-seq
MIRT2070013	hsa-miR-3198	CLIP-seq
MIRT2070014	hsa-miR-3202	CLIP-seq
MIRT2070015	hsa-miR-326	CLIP-seq
MIRT2070016	hsa-miR-328	CLIP-seq
MIRT2070017	hsa-miR-330-5p	CLIP-seq
MIRT2070018	hsa-miR-331-3p	CLIP-seq
MIRT2070019	hsa-miR-3609	CLIP-seq
MIRT2070020	hsa-miR-361-3p	CLIP-seq
MIRT2070021	hsa-miR-3616-3p	CLIP-seq
MIRT2070022	hsa-miR-3649	CLIP-seq
MIRT2070023	hsa-miR-3657	CLIP-seq
MIRT2070024	hsa-miR-3667-3p	CLIP-seq
MIRT2070025	hsa-miR-377	CLIP-seq
MIRT2070026	hsa-miR-3908	CLIP-seq
MIRT2070027	hsa-miR-3911	CLIP-seq
MIRT2070028	hsa-miR-3918	CLIP-seq
MIRT2070029	hsa-miR-3943	CLIP-seq
MIRT2070030	hsa-miR-4253	CLIP-seq
MIRT2070031	hsa-miR-4254	CLIP-seq
MIRT1238057	hsa-miR-4257	CLIP-seq
MIRT2070032	hsa-miR-4271	CLIP-seq
MIRT2070033	hsa-miR-4283	CLIP-seq
MIRT2070034	hsa-miR-4294	CLIP-seq
MIRT2070035	hsa-miR-4302	CLIP-seq
MIRT2070036	hsa-miR-4309	CLIP-seq
MIRT2070037	hsa-miR-4418	CLIP-seq
MIRT2070038	hsa-miR-4436b-5p	CLIP-seq
MIRT2070039	hsa-miR-4446-3p	CLIP-seq
MIRT2070040	hsa-miR-4476	CLIP-seq
MIRT2070041	hsa-miR-4481	CLIP-seq
MIRT2070042	hsa-miR-4512	CLIP-seq
MIRT2070043	hsa-miR-4520a-3p	CLIP-seq
MIRT2070044	hsa-miR-4533	CLIP-seq
MIRT2070045	hsa-miR-4649-3p	CLIP-seq
MIRT2070046	hsa-miR-466	CLIP-seq
MIRT2070047	hsa-miR-4660	CLIP-seq
MIRT2070048	hsa-miR-4669	CLIP-seq
MIRT2070049	hsa-miR-4670-3p	CLIP-seq
MIRT2070050	hsa-miR-4691-5p	CLIP-seq
MIRT2070051	hsa-miR-4711-3p	CLIP-seq
MIRT2070052	hsa-miR-4721	CLIP-seq
MIRT2070053	hsa-miR-4722-5p	CLIP-seq
MIRT2070054	hsa-miR-4723-5p	CLIP-seq
MIRT2070055	hsa-miR-4725-3p	CLIP-seq
MIRT2070056	hsa-miR-4745-5p	CLIP-seq
MIRT2070057	hsa-miR-4789-3p	CLIP-seq
MIRT2070058	hsa-miR-4797-5p	CLIP-seq
MIRT2070059	hsa-miR-506	CLIP-seq
MIRT2070060	hsa-miR-509-3-5p	CLIP-seq
MIRT2070061	hsa-miR-509-5p	CLIP-seq
MIRT2070062	hsa-miR-513a-5p	CLIP-seq
MIRT2070063	hsa-miR-520g	CLIP-seq
MIRT2070064	hsa-miR-548ah	CLIP-seq
MIRT2070065	hsa-miR-556-5p	CLIP-seq
MIRT2070066	hsa-miR-570	CLIP-seq
MIRT1238041	hsa-miR-579	CLIP-seq
MIRT2070067	hsa-miR-581	CLIP-seq
MIRT2070068	hsa-miR-592	CLIP-seq
MIRT2070069	hsa-miR-596	CLIP-seq
MIRT2070070	hsa-miR-599	CLIP-seq
MIRT2070071	hsa-miR-646	CLIP-seq
MIRT2070072	hsa-miR-648	CLIP-seq
MIRT2070073	hsa-miR-671-5p	CLIP-seq
MIRT2070074	hsa-miR-759	CLIP-seq
MIRT2070075	hsa-miR-873	CLIP-seq
MIRT2070076	hsa-miR-935	CLIP-seq
MIRT2070077	hsa-miR-939	CLIP-seq
MIRT2297292	hsa-miR-1228	CLIP-seq
MIRT1238045	hsa-miR-1299	CLIP-seq
MIRT2297293	hsa-miR-1909	CLIP-seq
MIRT2070014	hsa-miR-3202	CLIP-seq
MIRT2070025	hsa-miR-377	CLIP-seq
MIRT1238054	hsa-miR-3909	CLIP-seq
MIRT2070037	hsa-miR-4418	CLIP-seq
MIRT2070044	hsa-miR-4533	CLIP-seq
MIRT2297294	hsa-miR-4690-3p	CLIP-seq
MIRT2070060	hsa-miR-509-3-5p	CLIP-seq
MIRT2070061	hsa-miR-509-5p	CLIP-seq
MIRT1238068	hsa-miR-875-3p	CLIP-seq
MIRT2392585	hsa-miR-425	CLIP-seq
MIRT2456572	hsa-miR-204	CLIP-seq
MIRT2456573	hsa-miR-211	CLIP-seq
MIRT2456574	hsa-miR-4707-5p	CLIP-seq
MIRT2456575	hsa-miR-4755-5p	CLIP-seq
MIRT2456576	hsa-miR-623	CLIP-seq
MIRT1238042	hsa-miR-670	CLIP-seq

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0002159	Process	Desmosome assembly	IEA
GO:0002159	Process	Desmosome assembly	ISS
GO:0002160	Process	Desmosome maintenance	IEA
GO:0003677	Function	DNA binding	IDA	20613778
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	10852826, 11790773, 19136012, 20156963, 23444369, 25225333, 25416956, 26275350, 29678907, 31835537, 32296183
GO:0005521	Function	Lamin binding	IDA	10852826
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20613778
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9369526
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20613778, 23444369
GO:0005737	Component	Cytoplasm	IEA
GO:0005882	Component	Intermediate filament	TAS	7527055
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20156963, 30949721
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	10852826
GO:0007165	Process	Signal transduction	NAS	7527055, 9326952
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	25225333
GO:0016020	Component	Membrane	IEA
GO:0019215	Function	Intermediate filament binding	NAS	10852826
GO:0022409	Process	Positive regulation of cell-cell adhesion	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IMP	23444369, 29678907
GO:0022409	Process	Positive regulation of cell-cell adhesion	ISS
GO:0030057	Component	Desmosome	IDA	20613778, 23444369
GO:0030057	Component	Desmosome	IEA
GO:0030057	Component	Desmosome	NAS	7527055
GO:0030280	Function	Structural constituent of skin epidermis	NAS	7527055
GO:0035377	Process	Transepithelial water transport	IEA
GO:0036305	Process	Ameloblast differentiation	IEA
GO:0036305	Process	Ameloblast differentiation	ISS
GO:0045110	Process	Intermediate filament bundle assembly	IDA	10852826
GO:0045296	Function	Cadherin binding	IBA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20156963
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	20156963
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0097165	Component	Nuclear stress granule	IDA	20156963
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902373	Process	Negative regulation of mRNA catabolic process	IMP	25225333
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	ISS
GO:1903676	Process	Positive regulation of cap-dependent translational initiation	IMP	23444369
GO:1905477	Process	Positive regulation of protein localization to membrane	IEA
GO:1905477	Process	Positive regulation of protein localization to membrane	IMP	31835537

MIM	HGNC	e!Ensembl
601975	9023	ENSG00000081277

Q13835

Protein name

Plakophilin-1 (Band 6 protein) (B6P)

Protein function

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:23444369). Plays a role in desmosome protein expression regulation and localization to the desmosomal plaque, thereby maintainin

PDB

1XM9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00514	Arm	276 → 316	Armadillo/beta-catenin-like repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in stratified squamous, complex, glandular duct and bladder epithelia (at protein level). {ECO:0000269|PubMed:9369526}.; TISSUE SPECIFICITY: [Isoform 2]: Widely expressed (at protein level). {ECO:0000269|PubMed:9

Sequence

MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSS
TLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSY
SQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTT
QNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDI
ECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPN
QNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSST
DELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRKRLGMRELL
ALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLH
NLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGS
GWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQI
ARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSS
ACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGV
LRQQGFDRNMLGTLAGANSLRNFTSRF

Sequence length

747

Interactions

View interactions

	Reactome
			Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization Formation of the cornified envelope

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epidermolysis bullosa simplex due to plakophilin deficiency	Likely pathogenic; Pathogenic	rs2102154917, rs121918354, rs2526762309, rs1558193923, rs1553275192, rs1571564381, rs1571557821	RCV001823495 RCV000008041 RCV000008042 RCV000008043 RCV000585663 RCV001003403 RCV001003404 RCV001003405 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA-SKIN FRAGILITY SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PKP1-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (52)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31809668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	22170739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	22170739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	22170739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32495884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	9008225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30946843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31809668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19016709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	10233227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	BEFREE	10635620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	10379701, 10635620, 11180229, 11994137, 19945625		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia-skin fragility syndrome	Ectodermal dysplasia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia/ skin fragility syndrome	Ectodermal Dysplasia	BEFREE	10951270, 12839569, 15086548, 16159729, 16781314, 19016709, 22309335, 9326952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia/ skin fragility syndrome	Ectodermal Dysplasia	ORPHANET_DG	19945625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia/ skin fragility syndrome	Ectodermal Dysplasia	GENOMICS_ENGLAND_DG	22309335, 24073657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia/ skin fragility syndrome	Ectodermal Dysplasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia/ skin fragility syndrome	Ectodermal Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19472401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19472401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	22170739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	26399581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30946843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30946843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23881279, 26138584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23881279, 30946843		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30841437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32869947	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32869947	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30841437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18056173, 30841437, 30946843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	BEFREE	19945625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	GWASDB_DG	19165232		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic Disorder	GWASCAT_DG	19165232		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus	Pemphigus	Pubtator	24056861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23881279, 26138584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20348237, 26138584, 36380691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	26138584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	19945625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17593084, 31809668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17668353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17668353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31822797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21194493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16159729		★★★★★ ★☆☆☆☆ Found in Text Mining only

PKP1 (plakophilin 1)