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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: NCI:C84696;   OMIM:PS133200;   ORDO:317
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO DNA:missense mutations:cds:p.G12D, p.L209F (human)
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
CTD PMID:9843209 PMID:16297190 PMID:25556823 PMID:22681493 PMID:21188847 More... RGD:1578480, RGD:11251416, RGD:12437067, RGD:12436734, RGD:11097171, RGD:12436731, RGD:12436729, RGD:12050153 NCBI chr 5:139,649,227...139,655,083
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 OMIM
ClinVar
PMID:9843209 PMID:9843210 PMID:10587579 PMID:10594760 PMID:10798362 More... NCBI chr 5:139,649,227...139,655,083
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
OMIM
PMID:148984 PMID:6437964 PMID:11017804 PMID:12648223 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 ClinVar
OMIM
PMID:25398053 PMID:28492532 NCBI chr20:35,756,007...35,768,481
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 ClinVar
OMIM
PMID:28575652 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
OMIM
PMID:27965375 NCBI chr 7:132,547,388...132,554,978
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:28492532 PMID:30528822 NCBI chr 1:95,781,805...95,812,095
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 OMIM
ClinVar
PMID:30321533 PMID:31898316 NCBI chr 1:13,542,067...13,554,514
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...139,655,083
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: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
DNA:mutation:splice junction:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19057675 PMID:23423674 PMID:25741868 PMID:30244301 PMID:19057675 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 17205
    sensory system disease 5611
      skin disease 2954
        Erythema 60
          erythrokeratodermia variabilis 9
            Erythrokeratodermia Variabilis et Progressiva 7 1
            Erythrokeratodermia Variabilis, Autosomal Recessive 1
            Keratoderma Palmoplantaris Transgrediens 0
            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 1
            erythrokeratodermia variabilis et progressiva 6 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            Erythema 60
              erythrokeratodermia variabilis 9
                Erythrokeratodermia Variabilis et Progressiva 7 1
                Erythrokeratodermia Variabilis, Autosomal Recessive 1
                Keratoderma Palmoplantaris Transgrediens 0
                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 1
                erythrokeratodermia variabilis et progressiva 6 1
paths to the root