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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:erythrokeratodermia variabilis
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Accession:DOID:0050467 term browser browse the term
Definition:A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. (DO)
Synonyms:exact_synonym: EKV;   EKVP;   Mendes De Costa syndrome;   PSEK;   erythro et keratodermia variabilis;   erythrokeratodermia figurata variabilis;   erythrokeratodermia variabilis et progressiva;   progressive symmetric erythrokeratodermia
 primary_id: MESH:D056266
 xref: MIM:PS133200;   NCI:C84696;   ORDO:317


show annotations for term's descendants           Sort by:
erythrokeratodermia variabilis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:mutations:cds:p.E227D,p.A44V(human) RGD PMID:25398053 RGD:11568612 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO
ISS 		DNA:missense mutations:cds:p.G12D, p.L209F (human)
ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
DNA:missense mutation:exon:p.T202N (c.605C>A) (human)
DNA:missense mutation:exon:p.G45E (c.134G>A)(human)
DNA:missense mutation:exon:p.L135V (c.403C>G) (human)
DNA:missense mutation:exon:p.R42P (125G>C) (human)
DNA:missense mutation:exon:p.L209F (625C>T) (human)
DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human)
DNA:missense mutation:cds:p.R42P (human)
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:9843209 PMID:9843210 PMID:12019212 PMID:19050930 PMID:24033266 More... RGD:1578480, RGD:11251416, RGD:12437067, RGD:12436734, RGD:11097171, RGD:12436731, RGD:12436729, RGD:12050153 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO DNA:missense mutations:exon:multiple
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
DNA:missense mutation: :p.F137L (human) 		RGD PMID:12648223 PMID:23037955 PMID:11017804 RGD:1598970, RGD:12437072, RGD:1598971 NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
erythrokeratodermia variabilis et progressiva 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 OMIM
ClinVar		 PMID:9843209 PMID:9843210 PMID:10587579 PMID:10594760 PMID:10798362 More... NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640 		JBrowse link
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 | ClinVar Annotator: match by term: GJB4-related condition OMIM
ClinVar		 PMID:148984 PMID:6437964 PMID:11017804 PMID:11933201 PMID:12648223 More... NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 OMIM
ClinVar		 PMID:25398053 PMID:28492532 PMID:30628963 PMID:30631135 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575652 PMID:28774589 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 | ClinVar Annotator: match by term: KRT83-related condition OMIM
ClinVar		 PMID:25741868 PMID:27965375 PMID:28492532 NCBI chr 7:132,604,180...132,610,869
Ensembl chr 7:132,604,128...132,610,799 		JBrowse link
G Krt87 keratin 87 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 | ClinVar Annotator: match by term: KRT83-related condition OMIM
ClinVar		 PMID:25741868 PMID:27965375 PMID:28492532 NCBI chr 7:132,547,388...132,555,005
Ensembl chr 7:132,548,141...132,554,978 		JBrowse link
erythrokeratodermia variabilis et progressiva 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25299611 PMID:25741868 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
Erythrokeratodermia Variabilis et Progressiva 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Perp p53 apoptosis effector related to PMP22 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 | ClinVar Annotator: match by term: PERP-related condition OMIM
ClinVar		 PMID:30321533 PMID:31898316 NCBI chr 1:15,361,784...15,374,230
Ensembl chr 1:13,542,067...13,554,511 		JBrowse link
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO DNA:missense mutation:CDS:p.L34P (101T>C) (human)
DNA:missense mutation:exon:p.V30I (c.G88A) (human) 		RGD PMID:12019212 PMID:21564177 RGD:12050155, RGD:12436733 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
Keratoderma Palmoplantaris Transgrediens term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS ClinVar PMID:9843210 PMID:12019212 PMID:19050930 PMID:24033266 PMID:25741868 More... NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
MEDNIK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO ClinVar Annotator: match by term: AP1S1-related condition | ClinVar Annotator: match by term: MEDNIK syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction: 		OMIM
ClinVar
CTD
RGD		 PMID:1905767 PMID:16199547 PMID:19057675 PMID:23423674 PMID:25741868 More... RGD:9684947 NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      skin disease 4308
        Erythema 76
          erythrokeratodermia variabilis 10
            Erythrokeratodermia Variabilis et Progressiva 7 1
            Erythrokeratodermia Variabilis, Autosomal Recessive 1
            Keratoderma Palmoplantaris Transgrediens 1
            MEDNIK syndrome 1
            erythrokeratodermia variabilis et progressiva 1 3
            erythrokeratodermia variabilis et progressiva 2 1
            erythrokeratodermia variabilis et progressiva 3 1
            erythrokeratodermia variabilis et progressiva 4 1
            erythrokeratodermia variabilis et progressiva 5 2
            erythrokeratodermia variabilis et progressiva 6 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Erythema 76
                erythrokeratodermia variabilis 10
                  Erythrokeratodermia Variabilis et Progressiva 7 1
                  Erythrokeratodermia Variabilis, Autosomal Recessive 1
                  Keratoderma Palmoplantaris Transgrediens 1
                  MEDNIK syndrome 1
                  erythrokeratodermia variabilis et progressiva 1 3
                  erythrokeratodermia variabilis et progressiva 2 1
                  erythrokeratodermia variabilis et progressiva 3 1
                  erythrokeratodermia variabilis et progressiva 4 1
                  erythrokeratodermia variabilis et progressiva 5 2
                  erythrokeratodermia variabilis et progressiva 6 1
paths to the root