Disease table of COACH SYNDROME OMIM ID: 216360

Gene-disease associations table

GeneAssociated with COACH SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TMEM67ClinVar, OMIM, HUMSAVARHGNC link8q22.15PS249000, PS213300, PS256100, 216360, PS209900
CC2D2AClinVar, OMIM, HUMSAVARHGNC link4p15.323PS213300, 216360, PS249000
RPGRIP1LClinVar, OMIM, HUMSAVARHGNC link16q12.23PS213300, 216360, PS249000

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TMEM67RPGRIP1LNo5PDCD11, DDX54, ERLIN2, SDHA, EMC3
CC2D2ARPGRIP1LNo11YWHAH, WDR83, CCDC138, NHP2L1, GPATCH1, OFD1, ECH1, CEP131, HAUS8, SSX2IP, PCM1

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
TMEM67CC2D2AYesbinding10TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, B9D2

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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Organelle biogenesis and maintenanceR-HSA-18522414.633CC2D2A, RPGRIP1L, TMEM67
Anchoring of the basal body to the plasma membraneR-HSA-56209126.513CC2D2A, RPGRIP1L, TMEM67
Assembly of the primary ciliumR-HSA-56178335.443CC2D2A, RPGRIP1L, TMEM67

NET-GE enrichment

Term New enriched termICP valueGenes
Anchoring of the basal body to the plasma membrane (R-HSA-5620912) -6.510.0CC2D2A, RPGRIP1L, TMEM67
Organelle biogenesis and maintenance (R-HSA-1852241) -4.630.003CC2D2A, RPGRIP1L, TMEM67
Assembly of the primary cilium (R-HSA-5617833) -5.440.0CC2D2A, RPGRIP1L, TMEM67
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182RPGRIP1L, TMEM67
protein binding (GO:0005515) 0.462RPGRIP1L, TMEM67
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.143CC2D2A, RPGRIP1L, TMEM67
cell projection organization (GO:0030030) 3.143CC2D2A, RPGRIP1L, TMEM67
cell projection assembly (GO:0030031) 4.193CC2D2A, RPGRIP1L, TMEM67
cellular component assembly involved in morphogenesis (GO:0010927) 4.293CC2D2A, RPGRIP1L, TMEM67
anatomical structure morphogenesis (GO:0009653) 2.533CC2D2A, RPGRIP1L, TMEM67
regulation of biological process (GO:0050789) 0.453CC2D2A, RPGRIP1L, TMEM67
single-organism process (GO:0044699) 0.483CC2D2A, RPGRIP1L, TMEM67
cellular developmental process (GO:0048869) 1.823CC2D2A, RPGRIP1L, TMEM67
cellular component organization (GO:0016043) 1.243CC2D2A, RPGRIP1L, TMEM67
cellular component morphogenesis (GO:0032989) 3.53CC2D2A, RPGRIP1L, TMEM67
biological regulation (GO:0065007) 0.393CC2D2A, RPGRIP1L, TMEM67
cellular component organization or biogenesis (GO:0071840) 1.223CC2D2A, RPGRIP1L, TMEM67
anatomical structure formation involved in morphogenesis (GO:0048646) 3.013CC2D2A, RPGRIP1L, TMEM67
developmental process (GO:0032502) 1.363CC2D2A, RPGRIP1L, TMEM67
cilium assembly (GO:0042384) 4.773CC2D2A, RPGRIP1L, TMEM67
cilium morphogenesis (GO:0060271) 5.543CC2D2A, RPGRIP1L, TMEM67
cellular process (GO:0009987) 0.263CC2D2A, RPGRIP1L, TMEM67
regulation of cellular process (GO:0050794) 0.53CC2D2A, RPGRIP1L, TMEM67
single-organism developmental process (GO:0044767) 1.493CC2D2A, RPGRIP1L, TMEM67
single-organism cellular process (GO:0044763) 0.653CC2D2A, RPGRIP1L, TMEM67
organelle assembly (GO:0070925) 3.753CC2D2A, RPGRIP1L, TMEM67
cell part morphogenesis (GO:0032990) 3.993CC2D2A, RPGRIP1L, TMEM67
organelle organization (GO:0006996) 2.023CC2D2A, RPGRIP1L, TMEM67
cell projection morphogenesis (GO:0048858) 4.053CC2D2A, RPGRIP1L, TMEM67
single-organism organelle organization (GO:1902589) 2.683CC2D2A, RPGRIP1L, TMEM67
cilium organization (GO:0044782) 4.673CC2D2A, RPGRIP1L, TMEM67
pattern specification process (GO:0007389) 3.792CC2D2A, RPGRIP1L
multicellular organismal process (GO:0032501) 1.452CC2D2A, RPGRIP1L
single-multicellular organism process (GO:0044707) 1.782CC2D2A, RPGRIP1L
sensory organ development (GO:0007423) 4.822CC2D2A, RPGRIP1L
determination of left/right symmetry (GO:0007368) 5.382CC2D2A, RPGRIP1L
anatomical structure development (GO:0048856) 1.582CC2D2A, RPGRIP1L
animal organ development (GO:0048513) 2.532CC2D2A, RPGRIP1L
eye development (GO:0001654) 5.072CC2D2A, RPGRIP1L
determination of bilateral symmetry (GO:0009855) 5.372CC2D2A, RPGRIP1L
specification of symmetry (GO:0009799) 5.362CC2D2A, RPGRIP1L
negative regulation of biological process (GO:0048519) 1.332RPGRIP1L, TMEM67
camera-type eye development (GO:0043010) 5.362CC2D2A, RPGRIP1L
negative regulation of cellular process (GO:0048523) 1.412RPGRIP1L, TMEM67

NET-GE enrichment

Term New enriched termICP valueGenes
cilium assembly (GO:0042384) -4.770.0CC2D2A, RPGRIP1L, TMEM67
cilium morphogenesis (GO:0060271) -5.540.008CC2D2A, TMEM67
cell projection organization (GO:0030030) -3.140.004CC2D2A, RPGRIP1L, TMEM67
cell projection assembly (GO:0030031) -4.190.006CC2D2A, RPGRIP1L, TMEM67
cellular component assembly involved in morphogenesis (GO:0010927) -4.290.0CC2D2A, RPGRIP1L, TMEM67
anatomical structure morphogenesis (GO:0009653) -2.530.039CC2D2A, RPGRIP1L, TMEM67
organelle assembly (GO:0070925) -3.750.0CC2D2A, RPGRIP1L, TMEM67
cilium organization (GO:0044782) -4.670.001CC2D2A, RPGRIP1L, TMEM67
anatomical structure formation involved in morphogenesis (GO:0048646) -3.010.007CC2D2A, RPGRIP1L, TMEM67
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoskeleton (GO:0005856) 2.553CC2D2A, RPGRIP1L, TMEM67
cytoplasm (GO:0005737) 1.013CC2D2A, RPGRIP1L, TMEM67
intracellular non-membrane-bounded organelle (GO:0043232) 1.763CC2D2A, RPGRIP1L, TMEM67
ciliary transition zone (GO:0035869) 6.623CC2D2A, RPGRIP1L, TMEM67
cell projection part (GO:0044463) 2.973CC2D2A, RPGRIP1L, TMEM67
cell part (GO:0044464) 0.113CC2D2A, RPGRIP1L, TMEM67
cytoplasmic part (GO:0044444) 0.823CC2D2A, RPGRIP1L, TMEM67
intracellular organelle (GO:0043229) 0.513CC2D2A, RPGRIP1L, TMEM67
non-membrane-bounded organelle (GO:0043228) 1.763CC2D2A, RPGRIP1L, TMEM67
cilium (GO:0005929) 3.893CC2D2A, RPGRIP1L, TMEM67
intracellular part (GO:0044424) 0.283CC2D2A, RPGRIP1L, TMEM67
cell projection (GO:0042995) 2.473CC2D2A, RPGRIP1L, TMEM67
organelle (GO:0043226) 0.43CC2D2A, RPGRIP1L, TMEM67
organelle part (GO:0044422) 0.793CC2D2A, RPGRIP1L, TMEM67
ciliary part (GO:0044441) 4.053CC2D2A, RPGRIP1L, TMEM67
protein complex (GO:0043234) 1.512CC2D2A, TMEM67
MKS complex (GO:0036038) 7.322CC2D2A, TMEM67
macromolecular complex (GO:0032991) 1.352CC2D2A, TMEM67
centrosome (GO:0005813) 3.752RPGRIP1L, TMEM67
cytosol (GO:0005829) 1.682CC2D2A, RPGRIP1L
microtubule organizing center (GO:0005815) 3.422RPGRIP1L, TMEM67
intracellular organelle part (GO:0044446) 0.812RPGRIP1L, TMEM67
cytoskeletal part (GO:0044430) 2.492RPGRIP1L, TMEM67

NET-GE enrichment

Term New enriched termICP valueGenes
centrosome (GO:0005813) -3.750.049RPGRIP1L, TMEM67
TCTN-B9D complex (GO:0036038) -7.320.0CC2D2A, TMEM67
cell projection part (GO:0044463) -2.970.002CC2D2A, RPGRIP1L, TMEM67
ciliary part (GO:0044441) -4.050.003CC2D2A, RPGRIP1L, TMEM67