ichthyosis Gene Set
Dataset
GeneRIF Biological Term Annotations
Category
structural or functional annotations
Type
biological term
Description
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. (Human Phenotype Ontology , HP_0008064 )
Similar Terms
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Genes
27 genes co-occuring with the biological term ichthyosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Symbol
Name
ABCA12
ATP-binding cassette, sub-family A (ABC1), member 12
ALOX12
arachidonate 12-lipoxygenase
ALOX12B
arachidonate 12-lipoxygenase, 12R type
ALOXE3
arachidonate lipoxygenase 3
CERS3
ceramide synthase 3
CLDN1
claudin 1
CST6
cystatin E/M
CSTA
cystatin A (stefin A)
CYP4F22
cytochrome P450, family 4, subfamily F, polypeptide 22
CYP4V2
cytochrome P450, family 4, subfamily V, polypeptide 2
FLG
filaggrin
GJB2
gap junction protein, beta 2, 26kDa
GTF2H4
general transcription factor IIH, polypeptide 4, 52kDa
KRT1
keratin 1, type II
KRT10
keratin 10, type I
KRT2
keratin 2, type II
LIPN
lipase, family member N
MBTPS2
membrane-bound transcription factor peptidase, site 2
NIPAL4
NIPA-like domain containing 4
PNPLA2
patatin-like phospholipase domain containing 2
SLC27A4
solute carrier family 27 (fatty acid transporter), member 4
SNAP29
synaptosomal-associated protein, 29kDa
ST14
suppression of tumorigenicity 14 (colon carcinoma)
STS
steroid sulfatase (microsomal), isozyme S
TGM1
transglutaminase 1
TGM5
transglutaminase 5
VPS33B
vacuolar protein sorting 33 homolog B (yeast)