Disease table of AMELOGENESIS IMPERFECTA OMIM ID: PS104500

Gene-disease associations table

GeneAssociated with AMELOGENESIS IMPERFECTA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
WDR72ClinVar, OMIMHGNC link15q21.31PS104500
ITGB6ClinVar, OMIM, HUMSAVARHGNC link2q24.21PS104500
FAM20AClinVar, OMIM, HUMSAVARHGNC link17q24.21PS104500
SLC24A4ClinVar, OMIM, HUMSAVARHGNC link14q32.122PS227220, PS104500
ENAMClinVar, OMIM, HUMSAVARHGNC link4q13.31PS104500
FAM83HClinVar, OMIM, HUMSAVARHGNC link8q24.31PS104500
KLK4ClinVar, OMIMHGNC link19q13.411PS104500
LAMB3ClinVar, OMIMHGNC link1q32.23226650, PS104500, 226700
C4orf26ClinVar, OMIMHGNC link4q21.11PS104500
MMP20ClinVar, OMIMHGNC link11q22.21PS104500
AMELXClinVar, OMIM, HUMSAVARHGNC linkXp22.21PS104500
DLX3OMIMHGNC link17q21.332PS104500, 190320

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
17q22DLX3, FAM20A
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
4q2ENAM, C4orf26
17q2DLX3, FAM20A
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
172DLX3, FAM20A
42ENAM, C4orf26
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
DLX3YES1CGA0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
KLK4YES2AR, PGR0
MMP20YES1JUN0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
ITGB6LAMB3Yesactivation28ITGA3, ITGA2B, PXN, ITGAV, ITGA11, ITGA9, ITGA6, ITGA5, LAMB1, LAMA3, PTK2, LAMA2, LAMC3, ITGA4, MMP20, LAMA5, ITGA7, LAMB2, SRC, ITGB7, ITGB4, ITGA2, ITGB8, ITGB1, ITGA8, LAMC2, ITGA1, LAMC1
ITGB6MMP20Yesactivation3LAMB3, LAMA3, LAMC2
LAMB3MMP20Yescatalysis3ITGB6, LAMA3, LAMC2

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
ECM-receptor interactionhsa045126.092LAMB3, ITGB6
Focal adhesionhsa045104.922LAMB3, ITGB6
PI3K-Akt signaling pathwayhsa041514.212LAMB3, ITGB6

NET-GE enrichment

Term New enriched termICP valueGenes
ECM-receptor interaction (hsa04512) -6.090.006LAMB3, ITGB6
Focal adhesion (hsa04510) -4.920.025LAMB3, ITGB6
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Extracellular matrix organizationR-HSA-14742444.913MMP20, LAMB3, ITGB6
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.22MMP20, LAMB3
Collagen formationR-HSA-14742906.562MMP20, LAMB3
Degradation of the extracellular matrixR-HSA-14742286.112MMP20, LAMB3

NET-GE enrichment

Term New enriched termICP valueGenes
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.015MMP20, LAMB3
Extracellular matrix organization (R-HSA-1474244) -4.910.017MMP20, LAMB3, ITGB6
Collagen formation (R-HSA-1474290) -6.560.031MMP20, LAMB3
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.024MMP20, LAMB3
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.1810FAM83H, MMP20, ITGB6, SLC24A4, FAM20A, AMELX, C4orf26, LAMB3, DLX3, KLK4
protein binding (GO:0005515) 0.468FAM83H, MMP20, ITGB6, FAM20A, AMELX, C4orf26, LAMB3, KLK4
macromolecular complex binding (GO:0044877) 2.614LAMB3, ITGB6, DLX3, FAM83H
protein complex binding (GO:0032403) 3.093LAMB3, ITGB6, FAM83H
catalytic activity (GO:0003824) 1.053MMP20, FAM20A, KLK4
ion binding (GO:0043167) 1.363MMP20, KLK4, SLC24A4
metal ion binding (GO:0046872) 1.413MMP20, KLK4, SLC24A4
cation binding (GO:0043169) 1.43MMP20, KLK4, SLC24A4
serine-type endopeptidase activity (GO:0004252) 4.42MMP20, KLK4
endopeptidase activity (GO:0004175) 3.632MMP20, KLK4
hydrolase activity (GO:0016787) 1.92MMP20, KLK4
serine hydrolase activity (GO:0017171) 4.262MMP20, KLK4
structural molecule activity (GO:0005198) 3.12LAMB3, AMELX
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.262MMP20, KLK4
calcium ion binding (GO:0005509) 3.172MMP20, SLC24A4
peptidase activity (GO:0008233) 3.232MMP20, KLK4
receptor binding (GO:0005102) 2.432ITGB6, AMELX
serine-type peptidase activity (GO:0008236) 4.272MMP20, KLK4
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism process (GO:0044699) 0.4811FAM83H, MMP20, ITGB6, ENAM, SLC24A4, FAM20A, AMELX, LAMB3, WDR72, DLX3, KLK4
developmental process (GO:0032502) 1.3610FAM83H, MMP20, ENAM, SLC24A4, FAM20A, AMELX, LAMB3, WDR72, DLX3, KLK4
single-organism developmental process (GO:0044767) 1.498MMP20, ENAM, SLC24A4, FAM20A, AMELX, DLX3, WDR72, KLK4
cellular process (GO:0009987) 0.268FAM83H, MMP20, ITGB6, SLC24A4, AMELX, LAMB3, DLX3, KLK4
single-organism cellular process (GO:0044763) 0.658FAM83H, MMP20, ITGB6, SLC24A4, AMELX, LAMB3, DLX3, KLK4
anatomical structure development (GO:0048856) 1.588FAM83H, ENAM, FAM20A, AMELX, LAMB3, WDR72, DLX3, KLK4
biological regulation (GO:0065007) 0.397FAM83H, MMP20, ITGB6, SLC24A4, FAM20A, AMELX, DLX3
tissue development (GO:0009888) 3.277FAM83H, ENAM, FAM20A, AMELX, LAMB3, WDR72, KLK4
organ morphogenesis (GO:0009887) 3.556MMP20, SLC24A4, ENAM, AMELX, DLX3, KLK4
odontogenesis of dentin-containing tooth (GO:0042475) 5.526MMP20, SLC24A4, ENAM, AMELX, DLX3, KLK4
odontogenesis (GO:0042476) 5.196MMP20, SLC24A4, ENAM, AMELX, DLX3, KLK4
cellular component organization (GO:0016043) 1.246FAM83H, MMP20, ITGB6, AMELX, LAMB3, KLK4
biomineral tissue development (GO:0031214) 5.416FAM83H, ENAM, FAM20A, AMELX, WDR72, KLK4
anatomical structure morphogenesis (GO:0009653) 2.536MMP20, SLC24A4, ENAM, AMELX, DLX3, KLK4
regulation of biological process (GO:0050789) 0.456FAM83H, MMP20, ITGB6, FAM20A, AMELX, DLX3
cellular component organization or biogenesis (GO:0071840) 1.226FAM83H, MMP20, ITGB6, AMELX, LAMB3, KLK4
regulation of cellular process (GO:0050794) 0.55AMELX, FAM20A, ITGB6, DLX3, FAM83H
multicellular organismal process (GO:0032501) 1.454MMP20, DLX3, AMELX, SLC24A4
amelogenesis (GO:0097186) 7.534MMP20, ENAM, KLK4, SLC24A4
extracellular matrix organization (GO:0030198) 4.014MMP20, LAMB3, ITGB6, KLK4
extracellular structure organization (GO:0043062) 4.04MMP20, LAMB3, ITGB6, KLK4
positive regulation of biological process (GO:0048518) 1.24FAM20A, DLX3, AMELX, FAM83H
anatomical structure formation involved in morphogenesis (GO:0048646) 3.014MMP20, ENAM, KLK4, SLC24A4
tooth mineralization (GO:0034505) 7.093FAM20A, WDR72, AMELX
positive regulation of metabolic process (GO:0009893) 1.743FAM20A, DLX3, AMELX
regulation of metabolic process (GO:0019222) 1.023FAM20A, DLX3, AMELX
ion homeostasis (GO:0050801) 3.423FAM20A, AMELX, SLC24A4
cell differentiation (GO:0030154) 2.143LAMB3, DLX3, AMELX
homeostatic process (GO:0042592) 2.613FAM20A, AMELX, SLC24A4
macromolecule metabolic process (GO:0043170) 0.833MMP20, DLX3, KLK4
positive regulation of macromolecule metabolic process (GO:0010604) 1.813FAM20A, DLX3, AMELX
cellular developmental process (GO:0048869) 1.823LAMB3, DLX3, AMELX
organic substance metabolic process (GO:0071704) 0.633MMP20, DLX3, KLK4
biological adhesion (GO:0022610) 2.813LAMB3, ITGB6, AMELX
extracellular matrix disassembly (GO:0022617) 5.383MMP20, LAMB3, KLK4
regulation of macromolecule metabolic process (GO:0060255) 1.083FAM20A, DLX3, AMELX
enamel mineralization (GO:0070166) 7.333FAM20A, WDR72, AMELX
cellular component disassembly (GO:0022411) 3.523MMP20, LAMB3, KLK4
metabolic process (GO:0008152) 0.583MMP20, DLX3, KLK4
cell adhesion (GO:0007155) 2.823LAMB3, ITGB6, AMELX
primary metabolic process (GO:0044238) 0.693MMP20, DLX3, KLK4
regulation of biological quality (GO:0065008) 1.683FAM20A, AMELX, SLC24A4
single-multicellular organism process (GO:0044707) 1.783MMP20, DLX3, AMELX
response to stimulus (GO:0050896) 1.223MMP20, ITGB6, SLC24A4
chemical homeostasis (GO:0048878) 2.973FAM20A, AMELX, SLC24A4
positive regulation of cellular process (GO:0048522) 1.33FAM20A, DLX3, FAM83H
regulation of multicellular organismal process (GO:0051239) 1.872MMP20, AMELX
regulation of anatomical structure morphogenesis (GO:0022603) 2.792MMP20, AMELX
regulation of tooth mineralization (GO:0070170) 7.782MMP20, AMELX
positive regulation of cellular metabolic process (GO:0031325) 1.812FAM20A, DLX3
regulation of cellular metabolic process (GO:0031323) 1.072FAM20A, DLX3
calcium ion homeostasis (GO:0055074) 3.972FAM20A, SLC24A4
inorganic ion homeostasis (GO:0098771) 3.432FAM20A, SLC24A4
multicellular organism development (GO:0007275) 2.542DLX3, AMELX
regulation of primary metabolic process (GO:0080090) 1.082FAM20A, DLX3
divalent inorganic cation homeostasis (GO:0072507) 3.92FAM20A, SLC24A4
organic substance catabolic process (GO:1901575) 2.452MMP20, KLK4
regulation of odontogenesis (GO:0042481) 6.552MMP20, AMELX
positive regulation of biosynthetic process (GO:0009891) 2.292DLX3, AMELX
localization (GO:0051179) 1.42FAM83H, SLC24A4
proteolysis (GO:0006508) 2.732MMP20, KLK4
regulation of developmental process (GO:0050793) 2.12MMP20, AMELX
regulation of biosynthetic process (GO:0009889) 1.372DLX3, AMELX
regulation of biomineral tissue development (GO:0070167) 5.412MMP20, AMELX
defense response (GO:0006952) 2.782MMP20, ITGB6
response to stress (GO:0006950) 1.82MMP20, ITGB6
protein catabolic process (GO:0030163) 3.932MMP20, KLK4
inflammatory response (GO:0006954) 3.642MMP20, ITGB6
metal ion homeostasis (GO:0055065) 3.612FAM20A, SLC24A4
cation homeostasis (GO:0055080) 3.462FAM20A, SLC24A4
catabolic process (GO:0009056) 2.382MMP20, KLK4
macromolecule catabolic process (GO:0009057) 3.02MMP20, KLK4
protein metabolic process (GO:0019538) 1.452MMP20, KLK4
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392DLX3, AMELX
regulation of macromolecule biosynthetic process (GO:0010556) 1.432DLX3, AMELX
regulation of multicellular organismal development (GO:2000026) 2.312MMP20, AMELX
regulation of organ morphogenesis (GO:2000027) 4.222MMP20, AMELX
signal transduction (GO:0007165) 1.282ITGB6, AMELX

NET-GE enrichment

Term New enriched termICP valueGenes
developmental process (GO:0032502) -1.360.0FAM83H, MMP20, ITGB6, ENAM, SLC24A4, FAM20A, AMELX, LAMB3, DLX3, KLK4
tooth mineralization (GO:0034505) -7.090.005FAM20A, AMELX
organ morphogenesis (GO:0009887) -3.550.007MMP20, SLC24A4, ENAM, AMELX, DLX3, KLK4
odontogenesis of dentin-containing tooth (GO:0042475) -5.520.0MMP20, SLC24A4, ENAM, AMELX, DLX3, KLK4
amelogenesis (GO:0097186) -7.530.0MMP20, ENAM, KLK4, SLC24A4
odontogenesis (GO:0042476) -5.190.0MMP20, SLC24A4, ENAM, AMELX, DLX3, KLK4
regulation of tooth mineralization (GO:0070170) -7.780.001MMP20, AMELX
biomineral tissue development (GO:0031214) -5.410.0FAM20A, AMELX, FAM83H, ENAM
enamel mineralization (GO:0070166) -7.330.001FAM20A, AMELX
tissue development (GO:0009888) -3.270.002AMELX, FAM20A, LAMB3, FAM83H, ENAM
single-organism developmental process (GO:0044767) -1.490.002MMP20, ITGB6, ENAM, SLC24A4, FAM20A, AMELX, LAMB3, DLX3, KLK4
extracellular matrix organization (GO:0030198) -4.010.014MMP20, LAMB3, ITGB6, AMELX, KLK4
extracellular structure organization (GO:0043062) -4.00.014MMP20, LAMB3, ITGB6, AMELX, KLK4
anatomical structure morphogenesis (GO:0009653) -2.530.003MMP20, SLC24A4, ENAM, AMELX, DLX3, KLK4
extracellular matrix disassembly (GO:0022617) -5.380.005MMP20, LAMB3, KLK4
regulation of odontogenesis (GO:0042481) -6.550.017MMP20, AMELX
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular region (GO:0005576) 2.187MMP20, ENAM, FAM20A, AMELX, C4orf26, LAMB3, KLK4
cell part (GO:0044464) 0.117FAM83H, ITGB6, SLC24A4, FAM20A, AMELX, DLX3, WDR72
extracellular region part (GO:0044421) 1.576MMP20, ITGB6, ENAM, FAM20A, AMELX, LAMB3
intracellular part (GO:0044424) 0.285FAM20A, DLX3, WDR72, FAM83H, SLC24A4
organelle (GO:0043226) 0.45WDR72, FAM20A, ITGB6, DLX3, FAM83H
intracellular organelle (GO:0043229) 0.514FAM20A, WDR72, DLX3, FAM83H
membrane-bounded organelle (GO:0043227) 0.474ITGB6, FAM20A, WDR72, DLX3
proteinaceous extracellular matrix (GO:0005578) 4.014MMP20, LAMB3, ENAM, AMELX
extracellular matrix (GO:0031012) 3.814MMP20, LAMB3, ENAM, AMELX
cytoplasm (GO:0005737) 1.013WDR72, FAM83H, SLC24A4
membrane part (GO:0044425) 0.953MMP20, ITGB6, SLC24A4
integral component of membrane (GO:0016021) 1.143MMP20, ITGB6, SLC24A4
intracellular membrane-bounded organelle (GO:0043231) 0.63FAM20A, WDR72, DLX3
intrinsic component of membrane (GO:0031224) 1.133MMP20, ITGB6, SLC24A4
protein complex (GO:0043234) 1.512LAMB3, ITGB6
extracellular organelle (GO:0043230) 1.892FAM20A, ITGB6
vesicle (GO:0031982) 1.642FAM20A, ITGB6
membrane (GO:0016020) 0.682ITGB6, SLC24A4
membrane-bounded vesicle (GO:0031988) 1.712FAM20A, ITGB6
cytoplasmic part (GO:0044444) 0.822FAM20A, WDR72
plasma membrane (GO:0005886) 1.392ITGB6, SLC24A4
macromolecular complex (GO:0032991) 1.352LAMB3, ITGB6
extracellular vesicle (GO:1903561) 1.892FAM20A, ITGB6
plasma membrane part (GO:0044459) 1.952ITGB6, SLC24A4
extracellular exosome (GO:0070062) 1.892FAM20A, ITGB6

NET-GE enrichment

Term New enriched termICP valueGenes
proteinaceous extracellular matrix (GO:0005578) -4.010.008MMP20, ENAM, AMELX
extracellular matrix (GO:0031012) -3.810.017MMP20, ENAM, AMELX