Disease table of RETICULATE PIGMENT DISORDERS OMIM ID: PS179850

Gene-disease associations table

GeneAssociated with RETICULATE PIGMENT DISORDERS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ADAM10OMIM, HUMSAVARHGNC link15q21.32615590, PS179850
POGLUT1ClinVar, OMIMHGNC link3q13.331PS179850
ADARClinVar, OMIM, HUMSAVARHGNC link1q21.32PS179850, PS225750
KRT5ClinVar, OMIMHGNC link12q13.137601001, 131800, 131900, 131960, 609352, 131760, PS179850
POFUT1ClinVar, OMIMHGNC link20q11.211PS179850

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SP1NO460ITGB3, KRT14, CDK4, UGCG, PGR, GAST, PSIP1, ITGA5, PTHLH, ITGB2, CD44, HLA-G, LTF, IGFBP4, NF1, ACVRL1, GSTP1, CYP2F1, CA9, MMRN1, HSD17B2, STK11, FGFR3, CD28, UGT1A4, FASLG, DNASE2, KRT19, SLC39A1, ALOX5, PDGFB, PTGS2, CYP7A1, TNF, TPMT, HSD11B2, FMR1, CHI3L1, PCK1, DMRT1, RARA, RASSF1, CYP3A7, BRD7, CYP17A1, LPL, CXADR, PADI3, ABCA1, NR5A1, COL11A2, IRF5, XIAP, BACE1, STAR, TBX21, BSG, APP, MDM2, COMP, ALOX12, CHRNB4, SNAP25, MTA1, CCK, DDB2, CIC, ACAN, KIT, MAT2A, SERPINB5, CDH2, ICAM1, SLC29A1, USP7, SLC5A8, HTR1A, REST, IGF2, APOC3, APAF1, ABCG2, IFNGR1, CRMP1, SLC7A5, PDGFC, HNF4A, ATP2C1, MICA, EAPP, TNFRSF10B, KRT5, MACROD1, ERVW-1, CD151, ELF4, MMP28, POLD2, DNMT1, MAOB, CBS, E2F1, KCNQ3, COL18A1, HIST2H4A, RPS3A, IL10, C4A, CYP3A5, ST6GAL1, CD99, BCL2, SLC15A1, IL6, ADAM10, KRT16, POLE2, MUC6, CBFB, ACO1, DCK, CAV1, MIF, DNMT3A, HMGA2, PDIA2, B4GALT1, GJA1, PPL, SLC13A4, AGTR1, PTGIR, CETP, SLC2A2, CYP27A1, F2R, BLMH, ADIPOQ, CENPH, OPRM1, BAG2, MPO, WRN, CDK6, PTTG1, YY1, CD2AP, TBXA2R, TGM4, PRSS50, HSD17B11, HCN2, MYCN, F3, ID4, CDKN1A, SLC5A1, SERPINE1, C1QBP, SOX3, EGR1, TF, RETN, SYP, RORA, NDUFV1, C4B, SNAPC1, TGFBR2, MME, GATA3, DPYSL2, CXCL14, SPRY2, ABCB8, COX4I1, SCTR, UGDH, HBEGF, PLAT, FOS, XPC, MUC5AC, HYAL1, BRCA1, NOS1, KCTD11, HCN4, ASPN, OXTR, COL1A1, TLR2, ALOX15B, ITGAV, IL5, SLC9A2, SIRT1, FGL2, KLF8, KCNQ2, UGT2B15, FOXM1, TEC, CHST4, TINF2, SLC19A3, KIF2C, ADAM23, PTGES, DNMT3B, GCLC, THBD, GFER, ADRBK1, TGFB1, SLC25A20, TK1, PRM1, CXCL1, APOE, PDE6A, TICAM1, KCNH2, TERF2, CENPW, NFKB1, ITGA2, PCYT1A, SIGIRR, IRS2, SP3, GIPR, SCNN1B, PTN, PTEN, NDUFV2, INSR, AGT, ME1, ATP2A2, HAS2, CYP19A1, HTT, MAT2B, PRNP, MNDA, SLC9A3, ADAM17, BAX, SLC3A2, UTRN, SPN, PAX6, SMARCA1, IL2, CREM, MMP9, ENG, CHGA, MUC4, ESR1, AHR, ATM, NFKB2, COL7A1, CD97, EPO, TFPI2, POR, DRG2, ELMO3, CAT, CYP3A4, LOXL4, BDKRB1, WAS, PNOC, LDHC, ADH6, CDC42BPG, NKX2-1, CYP1B1, TAF7, PLAUR, MMP2, MMP11, APLNR, UBC, GM2A, FGFR1, PLAA, TIMP1, TNFSF14, PTK6, KISS1, CDKN2B, COL2A1, BTK, ITGAX, HBZ, CREB1, MMP14, MICB, LEP, FOLR1, ATP2A3, SNRPN, ADA, PSEN1, SPP1, TNNI3, NOL7, VEGFA, CSNK2A1, VAMP2, NQO2, LOR, EPOR, HSD3B1, ISG20, MET, F10, CD1D, FBLN1, APLP1, CCL5, FAS, ERBB2, COPS5, MYBL1, RECQL4, CD83, SOD1, HOXB7, WIF1, SLC39A8, CES1, IL5RA, APEX1, ITGAD, TNC, KDR, CLDN3, NR4A1, MYC, RELA, RECK, PGLYRP2, LRP5, MYBL2, ADRA2B, VIM, EGFR, GDA, SOD2, FES, LDHA, CD14, AMACR, IGFBP1, SLC19A1, IMPDH2, PDE6B, LCAT, PPP2R2B, FBN1, CERS2, EPAS1, KLK3, FLNA, CCL2, HMGA1, BACE2, EDNRB, FABP6, HPR, IGFBP3, PON1, APOA1, NPY, B4GALT5, FXR2, CCND2, STARD3, IL2RB, DDB1, SQSTM1, TERT, HGF, TNFSF10, KRT18, TYMP, MUC2, MPG, ABCC3, HDAC4, TCN2, TYMS, DBF4, CASP3, SGPL1, GH2, EGF, CCND1, GPR39, IVL, AR, NT5E, LYZ, SMPD1, PHGDH, CDKN2A, MGST1, CCNA2, POLD1, NOS3, ABCB1, DHCR24, LDLR, HSD17B1, SOCS1, FBP1, LTC4S, CTSL, BIRC5, HRAS, PDHA1, TIMP2, P4HA1, TMPO, ARF6, CDKN1B, SLC31A1, SOX9, PLAU, RGN, CTSB, EZR, TIMP3, F7, SREBF1, SKP2, SCT, VDR, ADRB3, CXCL5, LMO4, CD163, MCTS1, ATF2, CTGF, SRC, P2RX4, TGFA, IL3, CYP7B1, ADRA1A, GRIN1, SRY, ODC12KRT5, ADAM10
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ADAM10YES2SP1, PAX20
KRT5YES3SP1, BRCA1, TFAP2A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ADAM10POGLUT1No2TAZ, FBXO6
ADAM10ADARNo1FBXO6
ADAM10KRT5No1GRB2
ADAM10POFUT1No1FBXO6
POGLUT1ADARNo1FBXO6
POGLUT1POFUT1No1FBXO6
ADARKRT5No5OBSL1, CUL3, HNRNPA1, CAND1, CUL7
ADARPOFUT1No1FBXO6

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
ADAM10POGLUT1No-1NOTCH1
ADAM10ADARNo-1UBC
ADAM10KRT5No-1UBC
ADAM10POFUT1No-4NOTCH1, NOTCH4, DLL1, NOTCH3
POGLUT1POFUT1No-1NOTCH1
ADARKRT5No-1UBC

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Other types of O-glycan biosynthesishsa005147.722POGLUT1, POFUT1

NET-GE enrichment

Term New enriched termICP valueGenes
Other types of O-glycan biosynthesis (hsa00514) -7.720.01POGLUT1, POFUT1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.783POGLUT1, POFUT1, ADAM10
Signaling by NOTCHR-HSA-1571186.23POGLUT1, POFUT1, ADAM10
Pre-NOTCH Expression and ProcessingR-HSA-19124227.492POGLUT1, POFUT1
Pre-NOTCH Processing in the Endoplasmic ReticulumR-HSA-191239910.42POGLUT1, POFUT1

NET-GE enrichment

Term New enriched termICP valueGenes
Pre-NOTCH Expression and Processing (R-HSA-1912422) -7.490.032POGLUT1, POFUT1
Pre-NOTCH Processing in the Endoplasmic Reticulum (R-HSA-1912399) -10.40.0POGLUT1, POFUT1
Signaling by NOTCH (R-HSA-157118) -6.20.001POGLUT1, POFUT1, ADAM10
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.054POGLUT1, POFUT1, ADAR, ADAM10
binding (GO:0005488) 0.183KRT5, ADAR, ADAM10
protein binding (GO:0005515) 0.463KRT5, ADAR, ADAM10
hydrolase activity (GO:0016787) 1.92ADAR, ADAM10
cation binding (GO:0043169) 1.42ADAR, ADAM10
ion binding (GO:0043167) 1.362ADAR, ADAM10
transferase activity (GO:0016740) 1.952POGLUT1, POFUT1
transferase activity, transferring glycosyl groups (GO:0016757) 4.082POGLUT1, POFUT1
transferase activity, transferring hexosyl groups (GO:0016758) 4.432POGLUT1, POFUT1
metal ion binding (GO:0046872) 1.412ADAR, ADAM10
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.365POGLUT1, KRT5, POFUT1, ADAR, ADAM10
cellular process (GO:0009987) 0.265POGLUT1, KRT5, POFUT1, ADAR, ADAM10
single-organism cellular process (GO:0044763) 0.655POGLUT1, KRT5, POFUT1, ADAR, ADAM10
single-organism process (GO:0044699) 0.485POGLUT1, KRT5, POFUT1, ADAR, ADAM10
anatomical structure development (GO:0048856) 1.585POGLUT1, KRT5, POFUT1, ADAR, ADAM10
primary metabolic process (GO:0044238) 0.694POGLUT1, POFUT1, ADAR, ADAM10
cellular macromolecule metabolic process (GO:0044260) 0.934POGLUT1, POFUT1, ADAR, ADAM10
cellular metabolic process (GO:0044237) 0.694POGLUT1, POFUT1, ADAR, ADAM10
regulation of cellular process (GO:0050794) 0.54POGLUT1, POFUT1, ADAR, ADAM10
organic substance metabolic process (GO:0071704) 0.634POGLUT1, POFUT1, ADAR, ADAM10
macromolecule modification (GO:0043412) 1.734POGLUT1, POFUT1, ADAR, ADAM10
biological regulation (GO:0065007) 0.394POGLUT1, POFUT1, ADAR, ADAM10
metabolic process (GO:0008152) 0.584POGLUT1, POFUT1, ADAR, ADAM10
macromolecule metabolic process (GO:0043170) 0.834POGLUT1, POFUT1, ADAR, ADAM10
regulation of biological process (GO:0050789) 0.454POGLUT1, POFUT1, ADAR, ADAM10
cellular protein metabolic process (GO:0044267) 1.633POGLUT1, POFUT1, ADAM10
multicellular organismal process (GO:0032501) 1.453POFUT1, ADAR, ADAM10
single-multicellular organism process (GO:0044707) 1.783POFUT1, ADAR, ADAM10
protein metabolic process (GO:0019538) 1.453POGLUT1, POFUT1, ADAM10
regulation of response to stimulus (GO:0048583) 1.543POGLUT1, ADAR, ADAM10
cellular component organization (GO:0016043) 1.243KRT5, ADAR, ADAM10
single-organism developmental process (GO:0044767) 1.493POFUT1, ADAR, ADAM10
embryo development (GO:0009790) 4.23POFUT1, ADAR, ADAM10
protein modification process (GO:0036211) 1.793POGLUT1, POFUT1, ADAM10
signal transduction (GO:0007165) 1.283POFUT1, ADAR, ADAM10
cell surface receptor signaling pathway (GO:0007166) 2.093POFUT1, ADAR, ADAM10
cellular protein modification process (GO:0006464) 1.793POGLUT1, POFUT1, ADAM10
positive regulation of biological process (GO:0048518) 1.23POGLUT1, ADAR, ADAM10
multicellular organism development (GO:0007275) 2.543POFUT1, ADAR, ADAM10
cellular component organization or biogenesis (GO:0071840) 1.223KRT5, ADAR, ADAM10
positive regulation of cellular process (GO:0048522) 1.33POGLUT1, ADAR, ADAM10
cellular component assembly (GO:0022607) 2.142KRT5, ADAR
regulation of primary metabolic process (GO:0080090) 1.082POFUT1, ADAR
regulation of metabolic process (GO:0019222) 1.022POFUT1, ADAR
in utero embryonic development (GO:0001701) 4.42ADAR, ADAM10
positive regulation of response to stimulus (GO:0048584) 2.182POGLUT1, ADAM10
regulation of cellular metabolic process (GO:0031323) 1.072POFUT1, ADAR
embryo development ending in birth or egg hatching (GO:0009792) 4.352ADAR, ADAM10
regulation of signaling (GO:0023051) 1.722POGLUT1, ADAR
regulation of cell communication (GO:0010646) 1.732POGLUT1, ADAR
carbohydrate metabolic process (GO:0005975) 3.262POGLUT1, POFUT1
single-organism metabolic process (GO:0044710) 1.632POGLUT1, POFUT1
Notch signaling pathway (GO:0007219) 4.992POFUT1, ADAM10
protein glycosylation (GO:0006486) 4.22POGLUT1, POFUT1
regulation of signal transduction (GO:0009966) 1.842POGLUT1, ADAR
animal organ development (GO:0048513) 2.532POFUT1, ADAR
regulation of immune system process (GO:0002682) 2.52ADAR, ADAM10
negative regulation of biological process (GO:0048519) 1.332ADAR, ADAM10
chordate embryonic development (GO:0043009) 4.382ADAR, ADAM10
regulation of gene expression (GO:0010468) 1.372POFUT1, ADAR
response to cytokine (GO:0034097) 3.842ADAR, ADAM10
regulation of macromolecule metabolic process (GO:0060255) 1.082POFUT1, ADAR
glycosylation (GO:0070085) 4.162POGLUT1, POFUT1
macromolecule glycosylation (GO:0043413) 4.22POGLUT1, POFUT1
single-organism carbohydrate metabolic process (GO:0044723) 3.422POGLUT1, POFUT1
response to chemical (GO:0042221) 1.982ADAR, ADAM10
response to organic substance (GO:0010033) 2.22ADAR, ADAM10
protein O-linked glycosylation (GO:0006493) 5.132POGLUT1, POFUT1
response to stimulus (GO:0050896) 1.222ADAR, ADAM10
immune system process (GO:0002376) 2.292ADAR, ADAM10
system development (GO:0048731) 2.922POGLUT1, POFUT1
negative regulation of cellular process (GO:0048523) 1.412ADAR, ADAM10

NET-GE enrichment

Term New enriched termICP valueGenes
embryo development (GO:0009790) -4.20.01POFUT1, ADAR, ADAM10
Notch signaling pathway (GO:0007219) -4.990.032POGLUT1, POFUT1, ADAM10
anatomical structure development (GO:0048856) -1.580.018POGLUT1, KRT5, POFUT1, ADAR, ADAM10
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.65POGLUT1, KRT5, POFUT1, ADAR, ADAM10
cell part (GO:0044464) 0.115POGLUT1, KRT5, POFUT1, ADAR, ADAM10
intracellular organelle (GO:0043229) 0.515POGLUT1, KRT5, POFUT1, ADAR, ADAM10
intracellular part (GO:0044424) 0.285POGLUT1, KRT5, POFUT1, ADAR, ADAM10
membrane-bounded organelle (GO:0043227) 0.475POGLUT1, KRT5, POFUT1, ADAR, ADAM10
organelle (GO:0043226) 0.45POGLUT1, KRT5, POFUT1, ADAR, ADAM10
intracellular organelle part (GO:0044446) 0.814POGLUT1, KRT5, ADAR, ADAM10
cytoplasmic part (GO:0044444) 0.824POGLUT1, KRT5, POFUT1, ADAM10
membrane (GO:0016020) 0.684KRT5, POFUT1, ADAR, ADAM10
organelle part (GO:0044422) 0.794POGLUT1, KRT5, ADAR, ADAM10
cytoplasm (GO:0005737) 1.013KRT5, ADAR, ADAM10
extracellular organelle (GO:0043230) 1.893POGLUT1, KRT5, ADAM10
extracellular exosome (GO:0070062) 1.893POGLUT1, KRT5, ADAM10
nucleus (GO:0005634) 1.073KRT5, ADAR, ADAM10
membrane-bounded vesicle (GO:0031988) 1.713POGLUT1, KRT5, ADAM10
extracellular vesicle (GO:1903561) 1.893POGLUT1, KRT5, ADAM10
extracellular region part (GO:0044421) 1.573POGLUT1, KRT5, ADAM10
vesicle (GO:0031982) 1.643POGLUT1, KRT5, ADAM10
endoplasmic reticulum part (GO:0044432) 2.732POGLUT1, ADAM10
non-membrane-bounded organelle (GO:0043228) 1.762ADAR, ADAM10
endoplasmic reticulum (GO:0005783) 2.562POGLUT1, POFUT1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762ADAR, ADAM10
plasma membrane (GO:0005886) 1.392KRT5, ADAM10