cutis marmorata Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather. (Human Phenotype Ontology, HP_0000965)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000965
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Genes

34 genes associated with the cutis marmorata phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGXT alanine-glyoxylate aminotransferase
AKT3 v-akt murine thymoma viral oncogene homolog 3
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
CBS cystathionine-beta-synthase
CECR1 cat eye syndrome chromosome region, candidate 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
FTO fat mass and obesity associated
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HDAC8 histone deacetylase 8
LIG4 ligase IV, DNA, ATP-dependent
MYD88 myeloid differentiation primary response 88
NIPBL Nipped-B homolog (Drosophila)
NOTCH1 notch 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
RAD21 RAD21 homolog (S. pombe)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
TMEM173 transmembrane protein 173