ichthyosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008064
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Genes

117 genes associated with the ichthyosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABHD5 abhydrolase domain containing 5
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANOS1 anosmin 1
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
ARSE arylsulfatase E (chondrodysplasia punctata 1)
BLM Bloom syndrome, RecQ helicase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
CARD14 caspase recruitment domain family, member 14
CERS3 ceramide synthase 3
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CLDN1 claudin 1
COL4A5 collagen, type IV, alpha 5
COX1
COX2
COX3
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DOLK dolichol kinase
DST dystonin
DUSP6 dual specificity phosphatase 6
EBP emopamil binding protein (sterol isomerase)
ELOVL4 ELOVL fatty acid elongase 4
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
FERMT1 fermitin family member 1
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FLG filaggrin
FLRT3 fibronectin leucine rich transmembrane protein 3
GBA glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HESX1 HESX homeobox 1
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IL17RD interleukin 17 receptor D
KISS1R KISS1 receptor
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT2 keratin 2, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT9 keratin 9, type I
LIPN lipase, family member N
LOR loricrin
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NIPAL4 NIPA-like domain containing 4
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PNPLA1 patatin-like phospholipase domain containing 1
POMP proteasome maturation protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PSAT1 phosphoserine aminotransferase 1
RIN2 Ras and Rab interactor 2
SAT1 spermidine/spermine N1-acetyltransferase 1
SBDS Shwachman-Bodian-Diamond syndrome
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLURP1 secreted LY6/PLAUR domain containing 1
SNAP29 synaptosomal-associated protein, 29kDa
SOX10 SRY (sex determining region Y)-box 10
SPINK5 serine peptidase inhibitor, Kazal type 5
SPRY4 sprouty homolog 4 (Drosophila)
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STIM1 stromal interaction molecule 1
STS steroid sulfatase (microsomal), isozyme S
SUMF1 sulfatase modifying factor 1
TACR3 tachykinin receptor 3
TGM1 transglutaminase 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR11 WD repeat domain 11