Congenital Ichthyosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0020758
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Genes

78 genes associated with the disease Congenital Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABHD5 abhydrolase domain containing 5
ACE angiotensin I converting enzyme
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
AMY2B amylase, alpha 2B (pancreatic)
ANOS1 anosmin 1
AP1B1 adaptor-related protein complex 1, beta 1 subunit
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AQP6 aquaporin 6, kidney specific
ARSA arylsulfatase A
ASPRV1 aspartic peptidase, retroviral-like 1
BGN biglycan
CAPN12 calpain 12
CERS3 ceramide synthase 3
CLDN1 claudin 1
CLDN7 claudin 7
CST6 cystatin E/M
CYB5A cytochrome b5 type A (microsomal)
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DGAT1 diacylglycerol O-acyltransferase 1
DMD dystrophin
DMKN dermokine
DSP desmoplakin
EBP emopamil binding protein (sterol isomerase)
ELOVL4 ELOVL fatty acid elongase 4
FITM2 fat storage-inducing transmembrane protein 2
FLG filaggrin
FLT4 fms-related tyrosine kinase 4
FMR1 fragile X mental retardation 1
GATA3 GATA binding protein 3
GBA glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
HLA-DOA major histocompatibility complex, class II, DO alpha
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
IFNG interferon, gamma
IL17A interleukin 17A
IL23A interleukin 23, alpha subunit p19
IL36G interleukin 36, gamma
JUN jun proto-oncogene
KIF22 kinesin family member 22
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
LBR lamin B receptor
LOX lysyl oxidase
LPIN2 lipin 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MPDU1 mannose-P-dolichol utilization defect 1
MX1 MX dynamin-like GTPase 1
NIPAL4 NIPA-like domain containing 4
NLGN4X neuroligin 4, X-linked
PKD2L1 polycystic kidney disease 2-like 1
PLIN1 perilipin 1
PNPLA1 patatin-like phospholipase domain containing 1
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
PUDP pseudouridine 5'-phosphatase
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7
SGPL1 sphingosine-1-phosphate lyase 1
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC27A1 solute carrier family 27 (fatty acid transporter), member 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SNAP29 synaptosomal-associated protein, 29kDa
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STS steroid sulfatase (microsomal), isozyme S
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1
TGM1 transglutaminase 1
TGM5 transglutaminase 5
TNF tumor necrosis factor
TXNRD1 thioredoxin reductase 1
VCX3A variable charge, X-linked 3A
VPS33B vacuolar protein sorting 33 homolog B (yeast)