Disease table of HYPOTRICHOSIS OMIM ID: PS605389

Gene-disease associations table

GeneAssociated with HYPOTRICHOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KRT74ClinVar, OMIM, HUMSAVARHGNC link12q13.133PS605389, PS305100, 194300
KRT71ClinVar, OMIM, HUMSAVARHGNC link12q13.131PS605389
HRClinVar, OMIMHGNC link8p21.33PS605389, PS203655, 209500
LIPHOMIM, HUMSAVARHGNC link3q27.21PS605389
RPL21ClinVar, OMIM, HUMSAVARHGNC link13q12.21PS605389
KRT25ClinVarHGNC link17q21.22PS605389, 616760
CDSNClinVar, OMIMHGNC link6p21.332PS605389, PS270300
APCDD1ClinVar, OMIM, HUMSAVARHGNC link18p11.221PS605389
LPAR6ClinVar, OMIM, HUMSAVARHGNC link13q14.21PS605389
DSG4ClinVar, OMIMHGNC link18q12.11PS605389
SNRPEClinVar, OMIM, HUMSAVARHGNC link1q32.11PS605389

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 5732KRT71, KRT74
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
12q13.132KRT71, KRT74
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
12q132KRT71, KRT74
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
12q12KRT71, KRT74
13q12LPAR6, RPL21
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
12q2KRT71, KRT74
13q2LPAR6, RPL21
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
132LPAR6, RPL21
122KRT71, KRT74
182DSG4, APCDD1
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
HRYES1OLR10
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
HRYES2RAD51, TP530
DSG4YES3FOXN1, HOXC13, LEF10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KRT71RPL21No5COPS5, CUL2, CUL4B, EIF4A3, CUL3
KRT71SNRPENo4COPS5, CUL2, CUL4B, CUL3
HRLIPHNo1HDAC3
RPL21SNRPENo11FN1, YWHAQ, CUL1, CUL4B, CUL5, CAND1, COPS5, CUL3, CUL2, UBL4A, CUL7
CDSNLPAR6No1ZDHHC17

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

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
KRT74KRT71No-1UBC
KRT74RPL21No-1UBC
KRT74SNRPENo-1UBC
KRT71RPL21No-1UBC
KRT71SNRPENo-1UBC
RPL21LPAR6No-1NPSR1
RPL21SNRPENo-8NCBP1, MAGOH, RNPS1, NHP2L1, UPF3B, UBC, EEF2, NCBP2

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
RPL21SNRPENo-9SNU13, HNRNPA1, HNRNPM, U2AF1, U2AF2, HNRNPU, YBX1, DHX9, MOV10

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

Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Gene ExpressionR-HSA-741602.722SNRPE, RPL21
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.189LIPH, RPL21, CDSN, HR, SNRPE, APCDD1, DSG4, KRT71, KRT74
protein binding (GO:0005515) 0.467APCDD1, RPL21, CDSN, HR, SNRPE, KRT71, KRT74
structural molecule activity (GO:0005198) 3.14KRT74, KRT25, KRT71, RPL21
organic cyclic compound binding (GO:0097159) 1.053HR, SNRPE, RPL21
heterocyclic compound binding (GO:1901363) 1.063HR, SNRPE, RPL21
nucleic acid binding (GO:0003676) 1.443HR, SNRPE, RPL21
cation binding (GO:0043169) 1.42HR, DSG4
catalytic activity (GO:0003824) 1.052HR, LIPH
metal ion binding (GO:0046872) 1.412HR, DSG4
RNA binding (GO:0003723) 2.362SNRPE, RPL21
ion binding (GO:0043167) 1.362HR, DSG4

NET-GE enrichment

Term New enriched termICP valueGenes
structural molecule activity (GO:0005198) -3.10.027KRT74, KRT25, KRT71, RPL21
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism process (GO:0044699) 0.4810LIPH, KRT25, CDSN, RPL21, HR, SNRPE, APCDD1, DSG4, KRT71, KRT74
cellular process (GO:0009987) 0.269APCDD1, KRT25, RPL21, CDSN, HR, SNRPE, DSG4, KRT71, KRT74
single-organism cellular process (GO:0044763) 0.657APCDD1, KRT25, RPL21, CDSN, DSG4, KRT71, KRT74
multicellular organismal process (GO:0032501) 1.456LIPH, KRT25, SNRPE, APCDD1, DSG4, KRT71
single-multicellular organism process (GO:0044707) 1.786LIPH, KRT25, SNRPE, APCDD1, DSG4, KRT71
cellular component organization or biogenesis (GO:0071840) 1.226KRT25, RPL21, HR, SNRPE, KRT71, KRT74
cellular component organization (GO:0016043) 1.246KRT25, RPL21, HR, SNRPE, KRT71, KRT74
developmental process (GO:0032502) 1.365CDSN, APCDD1, KRT25, DSG4, KRT71
single-organism developmental process (GO:0044767) 1.495DSG4, APCDD1, KRT25, CDSN, KRT71
primary metabolic process (GO:0044238) 0.694HR, SNRPE, LIPH, RPL21
regulation of cellular process (GO:0050794) 0.54DSG4, HR, APCDD1, LPAR6
organic substance metabolic process (GO:0071704) 0.634HR, SNRPE, LIPH, RPL21
molting cycle process (GO:0022404) 5.544APCDD1, KRT25, DSG4, KRT71
hair cycle process (GO:0022405) 5.544APCDD1, KRT25, DSG4, KRT71
biological regulation (GO:0065007) 0.394DSG4, HR, APCDD1, LPAR6
metabolic process (GO:0008152) 0.584HR, SNRPE, LIPH, RPL21
regulation of biological process (GO:0050789) 0.454DSG4, HR, APCDD1, LPAR6
RNA biosynthetic process (GO:0032774) 1.843HR, SNRPE, RPL21
nucleic acid metabolic process (GO:0090304) 1.463HR, SNRPE, RPL21
cellular biosynthetic process (GO:0044249) 1.373HR, SNRPE, RPL21
cellular nitrogen compound metabolic process (GO:0034641) 1.223HR, SNRPE, RPL21
nitrogen compound metabolic process (GO:0006807) 1.133HR, SNRPE, RPL21
signal transduction (GO:0007165) 1.283APCDD1, DSG4, LPAR6
anatomical structure morphogenesis (GO:0009653) 2.533KRT25, CDSN, KRT71
organic cyclic compound biosynthetic process (GO:1901362) 1.663HR, SNRPE, RPL21
organic cyclic compound metabolic process (GO:1901360) 1.263HR, SNRPE, RPL21
nucleobase-containing compound metabolic process (GO:0006139) 1.353HR, SNRPE, RPL21
cellular macromolecule metabolic process (GO:0044260) 0.933HR, SNRPE, RPL21
heterocycle biosynthetic process (GO:0018130) 1.73HR, SNRPE, RPL21
organelle organization (GO:0006996) 2.023KRT74, KRT25, KRT71
organic substance biosynthetic process (GO:1901576) 1.343HR, SNRPE, RPL21
cellular aromatic compound metabolic process (GO:0006725) 1.33HR, SNRPE, RPL21
biosynthetic process (GO:0009058) 1.323HR, SNRPE, RPL21
macromolecule biosynthetic process (GO:0009059) 1.613HR, SNRPE, RPL21
nucleobase-containing compound biosynthetic process (GO:0034654) 1.723HR, SNRPE, RPL21
cytoskeleton organization (GO:0007010) 3.223KRT74, KRT25, KRT71
intermediate filament-based process (GO:0045103) 6.023KRT74, KRT25, KRT71
heterocycle metabolic process (GO:0046483) 1.313HR, SNRPE, RPL21
RNA metabolic process (GO:0016070) 1.593HR, SNRPE, RPL21
cellular nitrogen compound biosynthetic process (GO:0044271) 1.593HR, SNRPE, RPL21
intermediate filament cytoskeleton organization (GO:0045104) 6.043KRT74, KRT25, KRT71
anatomical structure development (GO:0048856) 1.583APCDD1, DSG4, CDSN
cellular metabolic process (GO:0044237) 0.693HR, SNRPE, RPL21
macromolecule metabolic process (GO:0043170) 0.833HR, SNRPE, RPL21
single-organism organelle organization (GO:1902589) 2.683KRT74, KRT25, KRT71
aromatic compound biosynthetic process (GO:0019438) 1.73HR, SNRPE, RPL21
cellular component assembly (GO:0022607) 2.142HR, SNRPE
single organismal cell-cell adhesion (GO:0016337) 3.692DSG4, CDSN
regulation of primary metabolic process (GO:0080090) 1.082HR, DSG4
regulation of metabolic process (GO:0019222) 1.022HR, DSG4
macromolecular complex subunit organization (GO:0043933) 2.142HR, SNRPE
regulation of cellular biosynthetic process (GO:0031326) 1.382HR, DSG4
cell differentiation (GO:0030154) 2.142DSG4, CDSN
regulation of cellular metabolic process (GO:0031323) 1.072HR, DSG4
cell adhesion (GO:0007155) 2.822DSG4, CDSN
cell surface receptor signaling pathway (GO:0007166) 2.092APCDD1, DSG4
catabolic process (GO:0009056) 2.382LIPH, RPL21
single-organism metabolic process (GO:0044710) 1.632HR, LIPH
establishment of localization in cell (GO:0051649) 2.472SNRPE, RPL21
cellular developmental process (GO:0048869) 1.822DSG4, CDSN
hair follicle development (GO:0001942) 6.022APCDD1, DSG4
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462HR, DSG4
localization (GO:0051179) 1.42SNRPE, RPL21
macromolecular complex assembly (GO:0065003) 2.552HR, SNRPE
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432HR, DSG4
epithelial cell differentiation (GO:0030855) 3.982DSG4, CDSN
negative regulation of biological process (GO:0048519) 1.332HR, APCDD1
biological adhesion (GO:0022610) 2.812DSG4, CDSN
regulation of gene expression (GO:0010468) 1.372HR, DSG4
single organism cell adhesion (GO:0098602) 3.632DSG4, CDSN
keratinocyte differentiation (GO:0030216) 5.372DSG4, CDSN
regulation of macromolecule metabolic process (GO:0060255) 1.082HR, DSG4
transport (GO:0006810) 1.512SNRPE, RPL21
regulation of biosynthetic process (GO:0009889) 1.372HR, DSG4
organic substance catabolic process (GO:1901575) 2.452LIPH, RPL21
regulation of nucleic acid-templated transcription (GO:1903506) 1.552HR, DSG4
cellular macromolecule biosynthetic process (GO:0034645) 1.662HR, RPL21
regulation of nitrogen compound metabolic process (GO:0051171) 1.362HR, DSG4
regulation of RNA biosynthetic process (GO:2001141) 1.552HR, DSG4
hair cycle (GO:0042633) 6.962KRT25, SNRPE
establishment of localization (GO:0051234) 1.482SNRPE, RPL21
molting cycle (GO:0042303) 6.962KRT25, SNRPE
hair follicle morphogenesis (GO:0031069) 6.472KRT25, KRT71
cellular localization (GO:0051641) 2.322SNRPE, RPL21
mRNA metabolic process (GO:0016071) 3.332SNRPE, RPL21
intermediate filament organization (GO:0045109) 6.732KRT25, KRT71
intracellular transport (GO:0046907) 2.672SNRPE, RPL21
epidermal cell differentiation (GO:0009913) 5.132DSG4, CDSN
regulation of RNA metabolic process (GO:0051252) 1.522HR, DSG4
regulation of transcription, DNA-templated (GO:0006355) 1.562HR, DSG4
regulation of macromolecule biosynthetic process (GO:0010556) 1.432HR, DSG4
RNA processing (GO:0006396) 3.012SNRPE, RPL21
cell-cell adhesion (GO:0098609) 3.342DSG4, CDSN
negative regulation of cellular process (GO:0048523) 1.412HR, APCDD1

NET-GE enrichment

Term New enriched termICP valueGenes
intermediate filament cytoskeleton organization (GO:0045104) -6.040.041KRT74, KRT25
intermediate filament-based process (GO:0045103) -6.020.043KRT74, KRT25
molting cycle process (GO:0022404) -5.540.002APCDD1, KRT25, KRT71
hair cycle process (GO:0022405) -5.540.002APCDD1, KRT25, KRT71
hair cycle (GO:0042633) -6.960.006KRT25, SNRPE
molting cycle (GO:0042303) -6.960.006KRT25, SNRPE
hair follicle morphogenesis (GO:0031069) -6.470.028KRT25, KRT71
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.1111LIPH, KRT25, CDSN, RPL21, HR, SNRPE, APCDD1, LPAR6, DSG4, KRT71, KRT74
organelle (GO:0043226) 0.47KRT25, RPL21, CDSN, HR, SNRPE, KRT71, KRT74
membrane (GO:0016020) 0.686LIPH, RPL21, CDSN, APCDD1, LPAR6, DSG4
intracellular organelle part (GO:0044446) 0.816KRT25, RPL21, HR, SNRPE, KRT71, KRT74
intracellular part (GO:0044424) 0.286KRT25, RPL21, HR, SNRPE, KRT71, KRT74
membrane-bounded organelle (GO:0043227) 0.476KRT25, CDSN, HR, SNRPE, KRT71, KRT74
extracellular region part (GO:0044421) 1.576LIPH, KRT25, CDSN, SNRPE, KRT71, KRT74
organelle part (GO:0044422) 0.796KRT25, RPL21, HR, SNRPE, KRT71, KRT74
cytoplasm (GO:0005737) 1.015KRT74, SNRPE, KRT25, KRT71, RPL21
extracellular organelle (GO:0043230) 1.895KRT74, KRT25, SNRPE, CDSN, KRT71
vesicle (GO:0031982) 1.645KRT74, SNRPE, KRT25, CDSN, KRT71
membrane-bounded vesicle (GO:0031988) 1.715KRT74, SNRPE, KRT25, CDSN, KRT71
plasma membrane (GO:0005886) 1.395DSG4, APCDD1, CDSN, LPAR6, LIPH
extracellular vesicle (GO:1903561) 1.895KRT74, KRT25, SNRPE, CDSN, KRT71
extracellular exosome (GO:0070062) 1.895KRT74, SNRPE, KRT25, CDSN, KRT71
intracellular organelle (GO:0043229) 0.514HR, SNRPE, KRT71, RPL21
intermediate filament (GO:0005882) 4.483KRT74, KRT25, KRT71
supramolecular fiber (GO:0099512) 3.313KRT74, KRT25, KRT71
polymeric cytoskeletal fiber (GO:0099513) 3.313KRT74, KRT25, KRT71
integral component of membrane (GO:0016021) 1.143APCDD1, DSG4, LPAR6
cytoskeletal part (GO:0044430) 2.493KRT74, KRT25, KRT71
nuclear part (GO:0044428) 1.553HR, SNRPE, RPL21
membrane part (GO:0044425) 0.953APCDD1, DSG4, LPAR6
macromolecular complex (GO:0032991) 1.353HR, SNRPE, RPL21
intrinsic component of membrane (GO:0031224) 1.133APCDD1, DSG4, LPAR6
protein complex (GO:0043234) 1.512HR, SNRPE
cytosol (GO:0005829) 1.682SNRPE, RPL21
anchoring junction (GO:0070161) 3.612DSG4, CDSN
intracellular membrane-bounded organelle (GO:0043231) 0.62HR, SNRPE
intracellular non-membrane-bounded organelle (GO:0043232) 1.762RPL21, KRT71
nucleus (GO:0005634) 1.072HR, SNRPE
keratin filament (GO:0045095) 5.212KRT74, KRT71
ribonucleoprotein complex (GO:1990904) 3.192SNRPE, RPL21
intracellular ribonucleoprotein complex (GO:0030529) 3.192SNRPE, RPL21
nucleoplasm (GO:0005654) 1.892HR, SNRPE
cytoplasmic part (GO:0044444) 0.822SNRPE, RPL21
non-membrane-bounded organelle (GO:0043228) 1.762KRT71, RPL21
cell-cell junction (GO:0005911) 3.852DSG4, CDSN
desmosome (GO:0030057) 6.582DSG4, CDSN
cell junction (GO:0030054) 2.752DSG4, CDSN
extracellular region (GO:0005576) 2.182LIPH, CDSN

NET-GE enrichment

Term New enriched termICP valueGenes
intermediate filament (GO:0005882) -4.480.011KRT74, KRT25, KRT71
desmosome (GO:0030057) -6.580.014DSG4, CDSN