Disease table of ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE OMIM ID: PS242300

Gene-disease associations table

GeneAssociated with ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CYP4F22ClinVar, OMIM, HUMSAVARHGNC link19p13.121PS242300
ABCA12ClinVar, OMIM, HUMSAVARHGNC link2q351PS242300
NIPAL4ClinVar, OMIM, HUMSAVARHGNC link5q33.31PS242300
CERS3ClinVar, OMIMHGNC link15q26.31PS242300
TGM1ClinVar, OMIM, HUMSAVARHGNC link14q121PS242300
ALOXE3ClinVar, OMIM, HUMSAVARHGNC link17p13.11PS242300
ST14ClinVar, OMIM, HUMSAVARHGNC link11q24.31PS242300
LIPNOMIMHGNC link10q23.311PS242300
PNPLA1ClinVar, OMIM, HUMSAVARHGNC link6p21.311PS242300
ALOX12BClinVar, OMIM, HUMSAVARHGNC link17p13.11PS242300

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 7342ALOXE3, ALOX12B
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
17p13.12ALOXE3, ALOX12B
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
17p132ALOXE3, ALOX12B
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
17p12ALOXE3, ALOX12B
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
17p2ALOXE3, ALOX12B
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
172ALOXE3, ALOX12B
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TGM1ALOXE3No2B3GALNT1, DPPA4
TGM1ALOX12BNo5B3GALNT1, CCDC51, GMCL1, GPANK1, DPPA4
ALOXE3ALOX12BNo2B3GALNT1, DPPA4

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.492CERS3, ALOX12B
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of lipids and lipoproteinsR-HSA-5568333.793CYP4F22, CERS3, ALOX12B
MetabolismR-HSA-14307282.343CYP4F22, CERS3, ALOX12B
Arachidonic acid metabolismR-HSA-21427537.342CYP4F22, ALOX12B

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism of lipids and lipoproteins (R-HSA-556833) -3.790.029CYP4F22, CERS3, ALOX12B
Arachidonic acid metabolism (R-HSA-2142753) -7.340.004CYP4F22, ALOX12B
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.059CYP4F22, CERS3, PNPLA1, ALOXE3, ABCA12, TGM1, ST14, LIPN, ALOX12B
binding (GO:0005488) 0.186CYP4F22, CERS3, ALOXE3, ABCA12, TGM1, ALOX12B
hydrolase activity (GO:0016787) 1.94PNPLA1, ABCA12, ST14, LIPN
ion binding (GO:0043167) 1.364CYP4F22, ALOX12B, TGM1, ALOXE3
metal ion binding (GO:0046872) 1.414CYP4F22, ALOX12B, TGM1, ALOXE3
protein binding (GO:0005515) 0.464ALOX12B, ABCA12, TGM1, ALOXE3
cation binding (GO:0043169) 1.44CYP4F22, ALOX12B, TGM1, ALOXE3
organic cyclic compound binding (GO:0097159) 1.053CYP4F22, ABCA12, CERS3
iron ion binding (GO:0005506) 4.653CYP4F22, ALOX12B, ALOXE3
heterocyclic compound binding (GO:1901363) 1.063CYP4F22, ABCA12, CERS3
transition metal ion binding (GO:0046914) 2.483CYP4F22, ALOX12B, ALOXE3
oxidoreductase activity (GO:0016491) 3.123CYP4F22, ALOX12B, ALOXE3
substrate-specific transporter activity (GO:0022892) 2.722ABCA12, NIPAL4
dioxygenase activity (GO:0051213) 5.252ALOX12B, ALOXE3
transporter activity (GO:0005215) 2.572ABCA12, NIPAL4
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702) 6.442ALOX12B, ALOXE3
transmembrane transporter activity (GO:0022857) 2.822ABCA12, NIPAL4
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701) 6.412ALOX12B, ALOXE3
transferase activity (GO:0016740) 1.952CERS3, TGM1
transferase activity, transferring acyl groups (GO:0016746) 4.22CERS3, TGM1

NET-GE enrichment

Term New enriched termICP valueGenes
catalytic activity (GO:0003824) -1.050.041CYP4F22, CERS3, PNPLA1, ALOXE3, ABCA12, TGM1, ST14, LIPN, ALOX12B
iron ion binding (GO:0005506) -4.650.01CYP4F22, ALOX12B, ALOXE3
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702) -6.440.008ALOX12B, ALOXE3
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701) -6.410.009ALOX12B, ALOXE3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism process (GO:0044699) 0.489CYP4F22, CERS3, PNPLA1, ALOXE3, ABCA12, TGM1, ST14, LIPN, ALOX12B
organic substance metabolic process (GO:0071704) 0.638CYP4F22, CERS3, ALOXE3, PNPLA1, TGM1, ST14, LIPN, ALOX12B
metabolic process (GO:0008152) 0.588CYP4F22, CERS3, ALOXE3, PNPLA1, TGM1, ST14, LIPN, ALOX12B
primary metabolic process (GO:0044238) 0.697CERS3, ALOXE3, PNPLA1, TGM1, ST14, LIPN, ALOX12B
cellular process (GO:0009987) 0.267CYP4F22, CERS3, ALOXE3, ABCA12, TGM1, ST14, ALOX12B
single-organism cellular process (GO:0044763) 0.657CYP4F22, CERS3, ALOXE3, ABCA12, TGM1, ST14, ALOX12B
single-organism metabolic process (GO:0044710) 1.636CYP4F22, CERS3, ALOXE3, PNPLA1, LIPN, ALOX12B
multicellular organismal process (GO:0032501) 1.455ALOX12B, ABCA12, TGM1, ALOXE3, LIPN
lipid metabolic process (GO:0006629) 2.685PNPLA1, CERS3, ALOX12B, ALOXE3, LIPN
single-multicellular organism process (GO:0044707) 1.785ALOX12B, ABCA12, TGM1, ALOXE3, LIPN
cellular developmental process (GO:0048869) 1.825ABCA12, CERS3, TGM1, ALOXE3, ST14
cell differentiation (GO:0030154) 2.145TGM1, ABCA12, CERS3, ST14, ALOXE3
cellular metabolic process (GO:0044237) 0.695CYP4F22, TGM1, CERS3, ALOX12B, ALOXE3
epidermal cell differentiation (GO:0009913) 5.134ABCA12, CERS3, ST14, TGM1
biological regulation (GO:0065007) 0.394ALOX12B, ABCA12, TGM1, ALOXE3
regulation of biological process (GO:0050789) 0.454ALOX12B, ABCA12, TGM1, ALOXE3
keratinocyte differentiation (GO:0030216) 5.374ABCA12, CERS3, ST14, TGM1
epithelial cell differentiation (GO:0030855) 3.984ABCA12, CERS3, ST14, TGM1
carboxylic acid metabolic process (GO:0019752) 3.123CYP4F22, ALOX12B, ALOXE3
homeostatic process (GO:0042592) 2.613ABCA12, ALOX12B, ALOXE3
cellular biosynthetic process (GO:0044249) 1.373CERS3, ALOX12B, ALOXE3
cellular nitrogen compound metabolic process (GO:0034641) 1.223CERS3, ALOX12B, ALOXE3
nitrogen compound metabolic process (GO:0006807) 1.133CERS3, ALOX12B, ALOXE3
establishment of skin barrier (GO:0061436) 6.93ABCA12, ALOX12B, ALOXE3
small molecule metabolic process (GO:0044281) 2.383CYP4F22, ALOX12B, ALOXE3
macromolecule metabolic process (GO:0043170) 0.833ALOX12B, ST14, TGM1
organonitrogen compound biosynthetic process (GO:1901566) 2.853CERS3, ALOX12B, ALOXE3
cellular component organization or biogenesis (GO:0071840) 1.223ABCA12, ST14, TGM1
organic substance biosynthetic process (GO:1901576) 1.343CERS3, ALOX12B, ALOXE3
single-organism biosynthetic process (GO:0044711) 2.83CERS3, ALOX12B, ALOXE3
water homeostasis (GO:0030104) 5.483ABCA12, ALOX12B, ALOXE3
regulation of water loss via skin (GO:0033561) 6.783ABCA12, ALOX12B, ALOXE3
cellular component organization (GO:0016043) 1.243ABCA12, ST14, TGM1
organic acid metabolic process (GO:0006082) 3.013CYP4F22, ALOX12B, ALOXE3
positive regulation of biological process (GO:0048518) 1.23ABCA12, ALOX12B, TGM1
membrane lipid biosynthetic process (GO:0046467) 4.993CERS3, ALOX12B, ALOXE3
regulation of biological quality (GO:0065008) 1.683ABCA12, ALOX12B, ALOXE3
sphingolipid metabolic process (GO:0006665) 4.793CERS3, ALOX12B, ALOXE3
sphingolipid biosynthetic process (GO:0030148) 5.383CERS3, ALOX12B, ALOXE3
membrane lipid metabolic process (GO:0006643) 4.513CERS3, ALOX12B, ALOXE3
regulation of body fluid levels (GO:0050878) 3.763ABCA12, ALOX12B, ALOXE3
regulation of cellular process (GO:0050794) 0.53ALOX12B, TGM1, ALOXE3
biosynthetic process (GO:0009058) 1.323CERS3, ALOX12B, ALOXE3
oxoacid metabolic process (GO:0043436) 3.123CYP4F22, ALOX12B, ALOXE3
cellular nitrogen compound biosynthetic process (GO:0044271) 1.593CERS3, ALOX12B, ALOXE3
cellular lipid metabolic process (GO:0044255) 2.923CERS3, ALOX12B, ALOXE3
oxidation-reduction process (GO:0055114) 2.913CYP4F22, ALOX12B, ALOXE3
lipid biosynthetic process (GO:0008610) 3.493CERS3, ALOX12B, ALOXE3
amide biosynthetic process (GO:0043604) 3.63CERS3, ALOX12B, ALOXE3
organonitrogen compound metabolic process (GO:1901564) 2.323CERS3, ALOX12B, ALOXE3
cellular amide metabolic process (GO:0043603) 3.233CERS3, ALOX12B, ALOXE3
multicellular organismal homeostasis (GO:0048871) 5.073ABCA12, ALOX12B, ALOXE3
protein metabolic process (GO:0019538) 1.453ALOX12B, ST14, TGM1
multicellular organismal water homeostasis (GO:0050891) 5.73ABCA12, ALOX12B, ALOXE3
chemical homeostasis (GO:0048878) 2.973ABCA12, ALOX12B, ALOXE3
icosanoid metabolic process (GO:0006690) 5.23CYP4F22, ALOX12B, ALOXE3
ceramide metabolic process (GO:0006672) 5.413CERS3, ALOX12B, ALOXE3
ceramide biosynthetic process (GO:0046513) 5.943CERS3, ALOX12B, ALOXE3
fatty acid biosynthetic process (GO:0006633) 5.012ALOX12B, ALOXE3
fatty acid metabolic process (GO:0006631) 4.032ALOX12B, ALOXE3
(GO:0051122) 8.122ALOX12B, ALOXE3
(GO:0051121) 8.122ALOX12B, ALOXE3
regulation of transport (GO:0051049) 2.242ABCA12, ALOX12B
small molecule biosynthetic process (GO:0044283) 3.792ALOX12B, ALOXE3
localization (GO:0051179) 1.42ABCA12, NIPAL4
monocarboxylic acid biosynthetic process (GO:0072330) 4.742ALOX12B, ALOXE3
single-organism catabolic process (GO:0044712) 3.212PNPLA1, LIPN
cellular protein metabolic process (GO:0044267) 1.632ALOX12B, TGM1
organic substance catabolic process (GO:1901575) 2.452PNPLA1, LIPN
regulation of localization (GO:0032879) 1.942ABCA12, ALOX12B
cellular macromolecule metabolic process (GO:0044260) 0.932ALOX12B, TGM1
linoleic acid metabolic process (GO:0043651) 7.092ALOX12B, ALOXE3
lipid catabolic process (GO:0016042) 4.212PNPLA1, LIPN
lipoxygenase pathway (GO:0019372) 7.162ALOX12B, ALOXE3
developmental process (GO:0032502) 1.362ABCA12, ST14
positive regulation of transport (GO:0051050) 2.92ABCA12, ALOX12B
transport (GO:0006810) 1.512ABCA12, NIPAL4
cellular protein modification process (GO:0006464) 1.792ALOX12B, TGM1
monocarboxylic acid metabolic process (GO:0032787) 3.572ALOX12B, ALOXE3
single-organism developmental process (GO:0044767) 1.492ABCA12, ST14
macromolecule modification (GO:0043412) 1.732ALOX12B, TGM1
protein modification process (GO:0036211) 1.792ALOX12B, TGM1
long-chain fatty acid metabolic process (GO:0001676) 5.272ALOX12B, ALOXE3
long-chain fatty acid biosynthetic process (GO:0042759) 7.532ALOX12B, ALOXE3
establishment of localization (GO:0051234) 1.482ABCA12, NIPAL4
catabolic process (GO:0009056) 2.382PNPLA1, LIPN
transmembrane transport (GO:0055085) 2.722ABCA12, NIPAL4
carboxylic acid biosynthetic process (GO:0046394) 4.322ALOX12B, ALOXE3
organic acid biosynthetic process (GO:0016053) 4.262ALOX12B, ALOXE3
keratinization (GO:0031424) 5.862ABCA12, TGM1
arachidonic acid metabolic process (GO:0019369) 5.82ALOX12B, ALOXE3
unsaturated fatty acid metabolic process (GO:0033559) 5.12ALOX12B, ALOXE3
positive regulation of cellular process (GO:0048522) 1.32ALOX12B, TGM1

NET-GE enrichment

Term New enriched termICP valueGenes
sphingolipid biosynthetic process (GO:0030148) -5.380.006CERS3, ALOX12B, ALOXE3
lipid metabolic process (GO:0006629) -2.680.042PNPLA1, CERS3, ALOX12B, ALOXE3, LIPN
hepoxilin metabolic process (GO:0051121) -8.120.001ALOX12B, ALOXE3
hepoxilin biosynthetic process (GO:0051122) -8.120.001ALOX12B, ALOXE3
keratinocyte differentiation (GO:0030216) -5.370.001CERS3, ST14, TGM1
epidermal cell differentiation (GO:0009913) -5.130.036CERS3, ST14, TGM1
regulation of water loss via skin (GO:0033561) -6.780.0ABCA12, ALOX12B, ALOXE3
linoleic acid metabolic process (GO:0043651) -7.090.012ALOX12B, ALOXE3
multicellular organismal water homeostasis (GO:0050891) -5.70.003ABCA12, ALOX12B, ALOXE3
ceramide metabolic process (GO:0006672) -5.410.004CERS3, ALOX12B, ALOXE3
establishment of skin barrier (GO:0061436) -6.90.0ABCA12, ALOX12B, ALOXE3
long-chain fatty acid biosynthetic process (GO:0042759) -7.530.003ALOX12B, ALOXE3
water homeostasis (GO:0030104) -5.480.006ABCA12, ALOX12B, ALOXE3
membrane lipid biosynthetic process (GO:0046467) -4.990.004CERS3, ALOX12B, ALOXE3
ceramide biosynthetic process (GO:0046513) -5.940.0CERS3, ALOX12B, ALOXE3
lipoxygenase pathway (GO:0019372) -7.160.005ALOX12B, ALOXE3
sphingolipid metabolic process (GO:0006665) -4.790.01CERS3, ALOX12B, ALOXE3
membrane lipid metabolic process (GO:0006643) -4.510.022CERS3, ALOX12B, ALOXE3
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.119NIPAL4, CYP4F22, CERS3, PNPLA1, ALOXE3, ABCA12, TGM1, ST14, ALOX12B
intracellular part (GO:0044424) 0.287NIPAL4, CYP4F22, CERS3, ABCA12, ALOXE3, PNPLA1, ALOX12B
membrane part (GO:0044425) 0.956NIPAL4, CYP4F22, CERS3, TGM1, ABCA12, ST14
membrane (GO:0016020) 0.686NIPAL4, CYP4F22, CERS3, TGM1, ABCA12, ST14
cytoplasm (GO:0005737) 1.015PNPLA1, ABCA12, NIPAL4, ALOX12B, ALOXE3
membrane-bounded organelle (GO:0043227) 0.475CYP4F22, ABCA12, CERS3, TGM1, ST14
organelle (GO:0043226) 0.45CYP4F22, ABCA12, CERS3, TGM1, ST14
intrinsic component of membrane (GO:0031224) 1.135ABCA12, NIPAL4, CERS3, ST14, TGM1
intracellular organelle part (GO:0044446) 0.814CYP4F22, ABCA12, CERS3, NIPAL4
integral component of membrane (GO:0016021) 1.144ABCA12, CERS3, NIPAL4, ST14
cytoplasmic part (GO:0044444) 0.824CYP4F22, ABCA12, CERS3, ALOX12B
organelle part (GO:0044422) 0.794CYP4F22, ABCA12, CERS3, NIPAL4
intracellular membrane-bounded organelle (GO:0043231) 0.63CYP4F22, ABCA12, CERS3
vesicle (GO:0031982) 1.643ABCA12, ST14, TGM1
membrane-bounded vesicle (GO:0031988) 1.713ABCA12, ST14, TGM1
intracellular organelle (GO:0043229) 0.513CYP4F22, ABCA12, CERS3
plasma membrane (GO:0005886) 1.393ABCA12, ST14, TGM1
organelle membrane (GO:0031090) 1.973CYP4F22, ABCA12, CERS3
extracellular organelle (GO:0043230) 1.892ST14, TGM1
endoplasmic reticulum (GO:0005783) 2.562CYP4F22, CERS3
cytosol (GO:0005829) 1.682ABCA12, ALOX12B
endoplasmic reticulum membrane (GO:0005789) 2.952CYP4F22, CERS3
endoplasmic reticulum part (GO:0044432) 2.732CYP4F22, CERS3
extracellular region (GO:0005576) 2.182LIPN, ST14
nuclear part (GO:0044428) 1.552NIPAL4, CERS3
extracellular vesicle (GO:1903561) 1.892ST14, TGM1
extracellular region part (GO:0044421) 1.572ST14, TGM1
extracellular exosome (GO:0070062) 1.892ST14, TGM1