Disease table of MECKEL SYNDROME OMIM ID: PS249000

Gene-disease associations table

GeneAssociated with MECKEL SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TMEM67ClinVar, OMIM, HUMSAVARHGNC link8q22.15PS249000, PS213300, PS256100, 216360, PS209900
KIF14ClinVar, OMIMHGNC link1q32.11PS249000
TCTN2ClinVar, OMIMHGNC link12q24.312PS213300, PS249000
MKS1ClinVar, OMIMHGNC link17q223PS213300, PS209900, PS249000
CEP290ClinVar, OMIMHGNC link12q21.325PS249000, PS213300, PS204000, 610189, PS209900
NPHP3ClinVar, OMIMHGNC link3q22.13PS249000, PS208540, PS256100
CC2D2AClinVar, OMIM, HUMSAVARHGNC link4p15.323PS213300, 216360, PS249000
TMEM216ClinVar, OMIM, HUMSAVARHGNC link11q12.22PS213300, PS249000
RPGRIP1LClinVar, OMIM, HUMSAVARHGNC link16q12.23PS213300, 216360, PS249000
TMEM231ClinVar, OMIM, HUMSAVARHGNC link16q23.12PS213300, PS249000
B9D2ClinVar, OMIM, HUMSAVARHGNC link19q13.21PS249000
B9D1ClinVar, OMIMHGNC link17p11.21PS249000

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
12q22CEP290, TCTN2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
12q2CEP290, TCTN2
16q2RPGRIP1L, TMEM231
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
122CEP290, TCTN2
172MKS1, B9D1
162RPGRIP1L, TMEM231
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TMEM67TCTN2No27ATP6AP2, TMEM199, TOR1AIP1, CKAP4, SPCS3, EMC1, KIAA1715, HSPA5, BCAP31, PGRMC2, RPN1, MAGT1, VRK2, EMC2, UBXN4, STT3B, ATP6AP1, SPCS2, CCDC47, VMA21, PTPRK, SEC11A, PREB, CAMLG, HM13, SRPR, EMC3
TMEM67CEP290No2RAB2A, BCAP31
TMEM67TMEM216No24ATP6AP2, TMEM199, TOR1AIP1, CKAP4, SPCS3, EMC1, KIAA1715, BCAP31, PGRMC2, SLC6A8, EMC2, UBXN4, STT3B, ATP6AP1, SPCS2, CCDC47, VMA21, SEC11A, PREB, CAMLG, ATP6V0A1, SRPR, VRK2, EMC3
TMEM67RPGRIP1LNo5PDCD11, DDX54, ERLIN2, SDHA, EMC3
KIF14TCTN2No1TMCO1
KIF14CEP290Yes7CEP128, CEP162, CEP104, PCM1, CCDC14, MED4, CEP135
KIF14CC2D2ANo1PCM1
KIF14TMEM216No1EFNB2
KIF14RPGRIP1LYes8CEP152, CEP128, CEP162, SPICE1, LCA5, NINL, CNTRL, PCM1
TCTN2MKS1Yes2B9D2, TMEM231
TCTN2CEP290No3BCAP31, DDX47, CYB5R3
TCTN2CC2D2ANo2B9D2, MKS1
TCTN2TMEM216No97HMOX2, VEZT, KIAA1715, CISD2, VRK2, RHBDD2, DDRGK1, CCDC115, RABL3, SRPRB, SOAT1, TMX1, DNAJC1, AGPAT6, CERS2, VKORC1L1, JPH1, PREB, CAMLG, ALG9, SEC63, ATP6AP2, BET1, JAGN1, TRIM13, TMPO, GPR89A, PLD3, TEX264, SLC33A1, SEC22B, EMC2, CLCC1, UBXN4, VAPA, NCOA2, AUP1, LBR, MMGT1, ARL6IP5, CCDC47, LRRC59, SGPL1, CDKAL1, RAB7A, TMEM199, PTPN1, TOR1AIP1, FKBP8, VAPB, ACSL3, AGPAT1, WDR41, PGRMC2, DHRS7, NSDHL, EMC1, ATP6V1F, RER1, STT3B, ANO10, TMEM109, ALDH3A2, STIM1, UBE2J1, EMC8, STX5, SEC11A, EMD, LMAN1, VAMP2, NDC1, EMC7, YKT6, EMC3, OSBPL8, POR, CKAP4, SPCS3, LEMD3, TMEM209, VAMP3, PTPN2, BCAP31, SLC39A7, ITGB1, AGPAT9, ATP6AP1, ESYT1, ELAVL1, VMA21, VMP1, ANO6, TMEM214, SPCS2, ARHGAP1, SRPR
TCTN2RPGRIP1LNo4PTPLB, SEC63, DDX47, EMC3
TCTN2TMEM231Yes4FBXO6, BTNL8, B9D2, MKS1
TCTN2B9D2Yes3TMEM231, MKS1, LEMD3
TCTN2B9D1No3TMEM231, MKS1, B9D2
MKS1CEP290No6TPGS1, LRRC49, HAUS7, FKBP4, HAUS8, ECH1
MKS1CC2D2AYes6MB21D2, B9D1, HAUS8, B9D2, UNC45A, ECH1
MKS1TMEM216No3ARFGAP3, MB21D2, COPB1
MKS1RPGRIP1LNo5DBT, HAUS8, SHMT2, TNRC6B, ECH1
MKS1TMEM231Yes3B9D1, B9D2, TCTN2
MKS1B9D2Yes6TCTN2, B9D1, TMEM231, YTHDF1, TNRC6B, CC2D2A
MKS1B9D1Yes12CCT7, PDCL3, CCT5, TMEM17, TMEM231, CCT3, CCT2, B9D2, TCP1, CCT4, CC2D2A, CCT6A
CEP290CC2D2ANo10YWHAH, WDR83, CCDC138, HAUS8, GPATCH1, OFD1, PCM1, CEP131, SSX2IP, ECH1
CEP290TMEM216No1BCAP31
CEP290RPGRIP1LNo28CSPP1, WDR83, HAUS8, GPATCH1, CCP110, HAUS3, DDX47, TCHP, CEP128, YWHAH, OFD1, PCNT, NME7, CEP97, SSX2IP, CEP170, CCDC138, LUZP1, CEP350, PCM1, KIF14, MPHOSPH9, HAUS6, KIAA0753, CHTOP, CEP131, CEP162, ECH1
CEP290B9D2No1ANP32A
NPHP3RPGRIP1LNo1NPHP1
CC2D2ATMEM216No1MB21D2
CC2D2ARPGRIP1LNo11YWHAH, WDR83, CCDC138, NHP2L1, GPATCH1, OFD1, ECH1, CEP131, HAUS8, SSX2IP, PCM1
CC2D2ATMEM231No3B9D1, B9D2, MKS1
CC2D2AB9D2Yes3TCTN3, B9D1, MKS1
CC2D2AB9D1Yes2B9D2, MKS1
TMEM216RPGRIP1LNo4NUP155, SEC63, TFRC, EMC3
TMEM216TMEM231No2LSR, EPHA7
TMEM216B9D2No1LEMD3
RPGRIP1LB9D2No7KDM1A, IBTK, TJP1, EIF4ENIF1, TNRC6B, MOB4, ZNF318
TMEM231B9D2Yes3B9D1, MKS1, TCTN2
TMEM231B9D1Yes2B9D2, MKS1
B9D2B9D1Yes4TMEM231, MTR, CC2D2A, MKS1

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
TMEM67TCTN2Yesbinding10TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM231, B9D1, CC2D2A, B9D2
TMEM67MKS1Yesbinding10TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, B9D1, CC2D2A, B9D2
TMEM67CEP290Yesbinding10TMEM216, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, CC2D2A, B9D2
TMEM67CC2D2AYesbinding10TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, B9D2
TMEM67TMEM216Yesbinding10CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, CC2D2A, B9D2
TMEM67TMEM231Yesbinding10TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, MKS1, B9D1, CC2D2A, B9D2
TMEM67B9D2Yesbinding10TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, CC2D2A
TMEM67B9D1Yesbinding10TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, CC2D2A, B9D2
KIF14CEP290No-1UBC
TCTN2MKS1Yesbinding10TMEM216, CEP290, B9D1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, CC2D2A, B9D2
TCTN2CEP290Yesbinding10TMEM216, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
TCTN2CC2D2AYesbinding10TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, B9D2
TCTN2TMEM216Yesbinding10CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
TCTN2TMEM231Yesbinding10TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM67, B9D1, CC2D2A, B9D2
TCTN2B9D2Yesbinding10TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A
TCTN2B9D1Yesbinding10TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, CC2D2A, B9D2
MKS1CEP290Yesbinding10TMEM216, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
MKS1CC2D2AYesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, B9D2
MKS1TMEM216Yesbinding10CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
MKS1TMEM231Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, B9D1, CC2D2A, B9D2
MKS1B9D2Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A
MKS1B9D1Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, CC2D2A, B9D2
CEP290NPHP3No-1INVS
CEP290CC2D2AYesbinding10TMEM216, TMEM17, MKS1, TCTN2, AHI1, TCTN1, TMEM67, TMEM231, B9D1, B9D2
CEP290TMEM216Yesbinding10TMEM17, MKS1, TCTN2, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
CEP290TMEM231Yesbinding10TMEM216, TMEM17, MKS1, TCTN2, AHI1, TCTN1, TMEM67, B9D1, CC2D2A, B9D2
CEP290B9D2Yesbinding17TMEM216, TCTN2, TMEM17, TMEM231, AHI1, TCTN1, MAPRE1, PLK1, CKAP5, CLASP1, PAFAH1B1, TMEM67, B9D1, NDE1, CC2D2A, MKS1, INVS
CEP290B9D1Yesbinding10TMEM216, TMEM17, MKS1, TCTN2, AHI1, TCTN1, TMEM67, TMEM231, CC2D2A, B9D2
NPHP3RPGRIP1LNo-1NPHP1
NPHP3B9D2No-1INVS
CC2D2ATMEM216Yesbinding10CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, TMEM231, B9D1, B9D2
CC2D2ATMEM231Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, B9D1, B9D2
CC2D2AB9D2Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, TMEM231, B9D1
CC2D2AB9D1Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, TMEM231, B9D2
TMEM216TMEM231Yesbinding10CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, B9D1, CC2D2A, B9D2
TMEM216B9D2Yesbinding10CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, TMEM231, B9D1, CC2D2A
TMEM216B9D1Yesbinding10CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, TMEM231, CC2D2A, B9D2
TMEM231B9D2Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, B9D1, CC2D2A
TMEM231B9D1Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, CC2D2A, B9D2
B9D2B9D1Yesbinding10TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, TMEM231, CC2D2A

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
Assembly of the primary ciliumR-HSA-56178335.4410TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
Organelle biogenesis and maintenanceR-HSA-18522414.6310TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
Anchoring of the basal body to the plasma membraneR-HSA-56209126.519TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
Signal TransductionR-HSA-1625821.784KIF14, RPGRIP1L, B9D2, MKS1
RHO GTPase EffectorsR-HSA-1952584.942KIF14, B9D2
Hedgehog 'off' stateR-HSA-56107876.192RPGRIP1L, MKS1
Signaling by Rho GTPasesR-HSA-1943154.432KIF14, B9D2
Cell Cycle, MitoticR-HSA-692784.162CEP290, B9D2
Signaling by HedgehogR-HSA-53583515.792RPGRIP1L, MKS1
Cell CycleR-HSA-16401703.892CEP290, B9D2

NET-GE enrichment

Term New enriched termICP valueGenes
Anchoring of the basal body to the plasma membrane (R-HSA-5620912) -6.510.0TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
Organelle biogenesis and maintenance (R-HSA-1852241) -4.630.0TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, CC2D2A, NPHP3, B9D2
Assembly of the primary cilium (R-HSA-5617833) -5.440.0TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
Hedgehog 'off' state (R-HSA-5610787) -6.190.027CEP290, RPGRIP1L, MKS1
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.188CEP290, TMEM231, MKS1, KIF14, RPGRIP1L, TMEM67, NPHP3, B9D2
protein binding (GO:0005515) 0.468CEP290, TMEM231, MKS1, KIF14, RPGRIP1L, TMEM67, NPHP3, B9D2
cytoskeletal protein binding (GO:0008092) 3.024CEP290, KIF14, B9D2, TMEM67
tubulin binding (GO:0015631) 4.13KIF14, CEP290, B9D2
hydrolase activity (GO:0016787) 1.92KIF14, NPHP3
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032NPHP3, KIF14
pyrophosphatase activity (GO:0016462) 3.042NPHP3, KIF14
microtubule binding (GO:0008017) 4.422KIF14, CEP290
nucleoside-triphosphatase activity (GO:0017111) 3.092NPHP3, KIF14
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032KIF14, NPHP3
catalytic activity (GO:0003824) 1.052KIF14, NPHP3
motor activity (GO:0003774) 4.812KIF14, NPHP3
microtubule motor activity (GO:0003777) 5.342KIF14, NPHP3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.3612TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
cellular process (GO:0009987) 0.2612TMEM216, KIF14, TCTN2, MKS1, TMEM231, CEP290, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
cellular component organization (GO:0016043) 1.2412TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
single-organism developmental process (GO:0044767) 1.4912TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
single-organism cellular process (GO:0044763) 0.6512TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
single-organism process (GO:0044699) 0.4812TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
cellular component organization or biogenesis (GO:0071840) 1.2212TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
cell projection organization (GO:0030030) 3.1411TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
organelle organization (GO:0006996) 2.0211TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
single-organism organelle organization (GO:1902589) 2.6811TMEM216, KIF14, TCTN2, MKS1, TMEM231, CEP290, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cilium organization (GO:0044782) 4.6710TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cell projection assembly (GO:0030031) 4.1910TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
regulation of cellular process (GO:0050794) 0.510CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
cellular component assembly involved in morphogenesis (GO:0010927) 4.2910TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cellular component assembly (GO:0022607) 2.1410TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
organelle assembly (GO:0070925) 3.7510TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cellular component morphogenesis (GO:0032989) 3.510TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
cilium assembly (GO:0042384) 4.7710TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cellular developmental process (GO:0048869) 1.8210TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
biological regulation (GO:0065007) 0.3910CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
anatomical structure morphogenesis (GO:0009653) 2.5310TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
regulation of biological process (GO:0050789) 0.4510CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
anatomical structure formation involved in morphogenesis (GO:0048646) 3.0110TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cell projection morphogenesis (GO:0048858) 4.059TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, CC2D2A, NPHP3
cilium morphogenesis (GO:0060271) 5.549TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
cell part morphogenesis (GO:0032990) 3.999TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
anatomical structure development (GO:0048856) 1.587CEP290, MKS1, B9D1, KIF14, RPGRIP1L, CC2D2A, NPHP3
animal organ development (GO:0048513) 2.536CEP290, MKS1, B9D1, RPGRIP1L, CC2D2A, NPHP3
multicellular organismal process (GO:0032501) 1.455B9D1, NPHP3, CC2D2A, MKS1, RPGRIP1L
single-multicellular organism process (GO:0044707) 1.785B9D1, NPHP3, CC2D2A, RPGRIP1L, MKS1
signal transduction (GO:0007165) 1.285B9D1, CC2D2A, NPHP3, TMEM231, TCTN2
cell surface receptor signaling pathway (GO:0007166) 2.095B9D1, CC2D2A, NPHP3, TMEM231, TCTN2
embryonic morphogenesis (GO:0048598) 3.724NPHP3, RPGRIP1L, B9D1, MKS1
pattern specification process (GO:0007389) 3.794NPHP3, CC2D2A, RPGRIP1L, MKS1
smoothened signaling pathway (GO:0007224) 5.454B9D1, CC2D2A, TMEM231, TCTN2
regulation of signal transduction (GO:0009966) 1.844KIF14, RPGRIP1L, NPHP3, MKS1
determination of left/right symmetry (GO:0007368) 5.384NPHP3, CC2D2A, MKS1, RPGRIP1L
regulation of signaling (GO:0023051) 1.724KIF14, NPHP3, MKS1, RPGRIP1L
regulation of response to stimulus (GO:0048583) 1.544NPHP3, RPGRIP1L, KIF14, MKS1
determination of bilateral symmetry (GO:0009855) 5.374CC2D2A, RPGRIP1L, NPHP3, MKS1
specification of symmetry (GO:0009799) 5.364NPHP3, RPGRIP1L, CC2D2A, MKS1
negative regulation of biological process (GO:0048519) 1.334KIF14, NPHP3, TMEM67, RPGRIP1L
regulation of cell communication (GO:0010646) 1.734KIF14, RPGRIP1L, NPHP3, MKS1
negative regulation of cellular process (GO:0048523) 1.414KIF14, NPHP3, RPGRIP1L, TMEM67
microtubule-based process (GO:0007017) 3.543KIF14, NPHP3, CC2D2A
sensory organ development (GO:0007423) 4.823CC2D2A, B9D1, RPGRIP1L
regulation of developmental process (GO:0050793) 2.13KIF14, NPHP3, MKS1
regulation of multicellular organismal development (GO:2000026) 2.313KIF14, NPHP3, MKS1
kidney development (GO:0001822) 4.793NPHP3, CEP290, RPGRIP1L
regulation of nervous system development (GO:0051960) 3.13KIF14, NPHP3, MKS1
cell cycle process (GO:0022402) 2.753KIF14, CEP290, B9D2
regulation of multicellular organismal process (GO:0051239) 1.873NPHP3, KIF14, MKS1
eye development (GO:0001654) 5.073CC2D2A, B9D1, RPGRIP1L
regulation of localization (GO:0032879) 1.943KIF14, CEP290, B9D1
camera-type eye development (GO:0043010) 5.363CC2D2A, RPGRIP1L, B9D1
tube formation (GO:0035148) 4.982CC2D2A, MKS1
regulation of smoothened signaling pathway (GO:0008589) 5.622RPGRIP1L, MKS1
positive regulation of metabolic process (GO:0009893) 1.742KIF14, CEP290
regulation of metabolic process (GO:0019222) 1.022KIF14, CEP290
regulation of anatomical structure morphogenesis (GO:0022603) 2.792NPHP3, MKS1
embryonic organ development (GO:0048568) 4.862CC2D2A, MKS1
negative regulation of response to stimulus (GO:0048585) 2.522NPHP3, RPGRIP1L
regulation of cellular metabolic process (GO:0031323) 1.072KIF14, CEP290
mitotic cell cycle process (GO:1903047) 3.122KIF14, CEP290
negative regulation of cellular component organization (GO:0051129) 3.352KIF14, TMEM67
regulation of cellular component organization (GO:0051128) 2.012KIF14, TMEM67
metabolic process (GO:0008152) 0.582KIF14, TMEM67
negative regulation of signaling (GO:0023057) 2.652NPHP3, RPGRIP1L
regulation of Wnt signaling pathway (GO:0030111) 3.982NPHP3, MKS1
head development (GO:0060322) 7.022RPGRIP1L, MKS1
microtubule cytoskeleton organization (GO:0000226) 4.132KIF14, CC2D2A
(GO:1905330) 4.562NPHP3, MKS1
modification-dependent macromolecule catabolic process (GO:0043632) 3.692KIF14, TMEM67
multicellular organism development (GO:0007275) 2.542B9D1, RPGRIP1L
regulation of protein localization (GO:0032880) 2.882CEP290, B9D1
morphogenesis of an epithelium (GO:0002009) 4.082NPHP3, MKS1
organic substance catabolic process (GO:1901575) 2.452KIF14, TMEM67
cellular macromolecule catabolic process (GO:0044265) 3.192KIF14, TMEM67
positive regulation of macromolecule metabolic process (GO:0010604) 1.812KIF14, CEP290
cellular macromolecule metabolic process (GO:0044260) 0.932KIF14, TMEM67
regulation of non-canonical Wnt signaling pathway (GO:2000050) 6.782NPHP3, MKS1
proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161) 4.162KIF14, TMEM67
regulation of cell cycle process (GO:0010564) 3.52KIF14, TMEM67
microtubule-based movement (GO:0007018) 4.392KIF14, NPHP3
macromolecule catabolic process (GO:0009057) 3.02KIF14, TMEM67
organic substance metabolic process (GO:0071704) 0.632KIF14, TMEM67
motile primary cilium assembly (GO:1903887) 8.342CC2D2A, MKS1
embryo development ending in birth or egg hatching (GO:0009792) 4.352B9D1, RPGRIP1L
tissue morphogenesis (GO:0048729) 3.872NPHP3, MKS1
positive regulation of biological process (GO:0048518) 1.22KIF14, CEP290
proteolysis (GO:0006508) 2.732KIF14, TMEM67
neural tube closure (GO:0001843) 5.382CC2D2A, MKS1
positive regulation of cellular metabolic process (GO:0031325) 1.812KIF14, CEP290
embryonic brain development (GO:1990403) 7.782CC2D2A, MKS1
tube morphogenesis (GO:0035239) 4.352NPHP3, MKS1
nonmotile primary cilium assembly (GO:0035058) 6.512CC2D2A, MKS1
regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) 7.242NPHP3, MKS1
proteolysis involved in cellular protein catabolic process (GO:0051603) 3.592KIF14, TMEM67
establishment of protein localization (GO:0045184) 2.532KIF14, CEP290
regulation of macromolecule metabolic process (GO:0060255) 1.082KIF14, CEP290
transport (GO:0006810) 1.512KIF14, CEP290
modification-dependent protein catabolic process (GO:0019941) 3.712KIF14, TMEM67
cellular catabolic process (GO:0044248) 2.622KIF14, TMEM67
embryonic digit morphogenesis (GO:0042733) 5.692B9D1, MKS1
tube closure (GO:0060606) 5.362CC2D2A, MKS1
regulation of cell differentiation (GO:0045595) 2.422NPHP3, KIF14
in utero embryonic development (GO:0001701) 4.42B9D1, RPGRIP1L
movement of cell or subcellular component (GO:0006928) 2.612KIF14, NPHP3
protein catabolic process (GO:0030163) 3.932KIF14, TMEM67
regulation of embryonic development (GO:0045995) 4.982NPHP3, MKS1
olfactory bulb development (GO:0021772) 6.682KIF14, RPGRIP1L
tube development (GO:0035295) 4.412NPHP3, MKS1
establishment of localization (GO:0051234) 1.482KIF14, CEP290
catabolic process (GO:0009056) 2.382KIF14, TMEM67
localization (GO:0051179) 1.42KIF14, CEP290
regulation of primary metabolic process (GO:0080090) 1.082KIF14, CEP290
primary metabolic process (GO:0044238) 0.692KIF14, TMEM67
cytoskeleton organization (GO:0007010) 3.222KIF14, CC2D2A
negative regulation of signal transduction (GO:0009968) 2.752NPHP3, RPGRIP1L
regulation of establishment of planar polarity (GO:0090175) 5.022NPHP3, MKS1
regulation of cell cycle (GO:0051726) 2.932KIF14, TMEM67
protein metabolic process (GO:0019538) 1.452KIF14, TMEM67
proteasomal protein catabolic process (GO:0010498) 4.122KIF14, TMEM67
cellular metabolic process (GO:0044237) 0.692KIF14, TMEM67
macromolecule metabolic process (GO:0043170) 0.832KIF14, TMEM67
ubiquitin-dependent protein catabolic process (GO:0006511) 3.722KIF14, TMEM67
negative regulation of cell communication (GO:0010648) 2.662NPHP3, RPGRIP1L
regulation of organ morphogenesis (GO:2000027) 4.222NPHP3, MKS1
system development (GO:0048731) 2.922B9D1, MKS1
chordate embryonic development (GO:0043009) 4.382B9D1, RPGRIP1L
embryo development (GO:0009790) 4.22B9D1, RPGRIP1L
regulation of canonical Wnt signaling pathway (GO:0060828) 4.262NPHP3, MKS1
positive regulation of cellular process (GO:0048522) 1.32KIF14, CEP290

NET-GE enrichment

Term New enriched termICP valueGenes
cellular component assembly (GO:0022607) -2.140.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cell projection organization (GO:0030030) -3.140.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
cell projection assembly (GO:0030031) -4.190.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cellular component assembly involved in morphogenesis (GO:0010927) -4.290.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
establishment or maintenance of cell polarity (GO:0007163) NEW5.00.023CEP290, NPHP3, RPGRIP1L, TMEM67
anatomical structure morphogenesis (GO:0009653) -2.530.0TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A
cellular component organization or biogenesis (GO:0071840) -1.220.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
in utero embryonic development (GO:0001701) -4.40.021B9D1, CEP290, RPGRIP1L, TMEM67, B9D2
cellular developmental process (GO:0048869) -1.820.0TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, B9D1, NPHP3, CC2D2A
vasculature development (GO:0001944) NEW6.040.017CEP290, B9D1, B9D2
kidney development (GO:0001822) -4.790.019NPHP3, CEP290, RPGRIP1L
cellular component organization (GO:0016043) -1.240.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
cellular component morphogenesis (GO:0032989) -3.50.0TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, B9D1, NPHP3, CC2D2A, B9D2
embryo development ending in birth or egg hatching (GO:0009792) -4.350.026B9D1, CEP290, RPGRIP1L, TMEM67, B9D2
central nervous system neuron axonogenesis (GO:0021955) NEW6.510.006TCTN2, TMEM67, B9D2
chordate embryonic development (GO:0043009) -4.380.022B9D1, CEP290, RPGRIP1L, TMEM67, B9D2
anatomical structure formation involved in morphogenesis (GO:0048646) -3.010.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
developmental process (GO:0032502) -1.360.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
cilium assembly (GO:0042384) -4.770.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cilium morphogenesis (GO:0060271) -5.540.0TMEM216, CEP290, TCTN2, MKS1, TMEM67, B9D1, NPHP3, CC2D2A
single-organism developmental process (GO:0044767) -1.490.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
eye development (GO:0001654) -5.070.008B9D1, CEP290, B9D2, RPGRIP1L
organelle assembly (GO:0070925) -3.750.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cell part morphogenesis (GO:0032990) -3.990.0TMEM216, CEP290, TCTN2, MKS1, TMEM67, B9D1, NPHP3, CC2D2A, B9D2
cell projection morphogenesis (GO:0048858) -4.050.0TMEM216, CEP290, TCTN2, MKS1, TMEM67, B9D1, CC2D2A, NPHP3, B9D2
sensory organ development (GO:0007423) -4.820.022B9D1, CEP290, B9D2, RPGRIP1L
smoothened signaling pathway (GO:0007224) -5.450.0B9D1, CEP290, CC2D2A, TMEM231, TCTN2
photoreceptor cell outer segment organization (GO:0035845) NEW7.650.01CEP290, B9D2
cilium organization (GO:0044782) -4.670.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.1112TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
organelle (GO:0043226) 0.412TMEM216, CEP290, TCTN2, MKS1, TMEM231, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
organelle part (GO:0044422) 0.7912TMEM216, KIF14, TCTN2, MKS1, TMEM231, CEP290, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
protein complex (GO:0043234) 1.5111TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, TMEM231, B9D1, NPHP3, CC2D2A, B9D2
intracellular part (GO:0044424) 0.2811TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
cell projection (GO:0042995) 2.4711TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
macromolecular complex (GO:0032991) 1.3511TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, TMEM231, B9D1, NPHP3, CC2D2A, B9D2
cytoplasm (GO:0005737) 1.0110TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cytoskeleton (GO:0005856) 2.5510TMEM216, KIF14, TCTN2, MKS1, CEP290, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
intracellular non-membrane-bounded organelle (GO:0043232) 1.7610TMEM216, KIF14, TCTN2, MKS1, CEP290, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cell projection part (GO:0044463) 2.9710TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cytoplasmic part (GO:0044444) 0.8210TMEM216, CEP290, B9D1, MKS1, KIF14, TMEM67, RPGRIP1L, NPHP3, CC2D2A, B9D2
intracellular organelle (GO:0043229) 0.5110TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
non-membrane-bounded organelle (GO:0043228) 1.7610TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
ciliary part (GO:0044441) 4.0510TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
ciliary transition zone (GO:0035869) 6.629TMEM216, CEP290, TMEM231, MKS1, RPGRIP1L, TMEM67, B9D1, CC2D2A, B9D2
MKS complex (GO:0036038) 7.329TMEM216, CEP290, TCTN2, MKS1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
membrane (GO:0016020) 0.689TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, TMEM231, B9D1, B9D2
cytosol (GO:0005829) 1.689TMEM216, KIF14, B9D1, MKS1, CEP290, RPGRIP1L, NPHP3, CC2D2A, B9D2
cilium (GO:0005929) 3.899TMEM216, CEP290, TMEM231, MKS1, TMEM67, RPGRIP1L, NPHP3, CC2D2A, B9D2
intracellular organelle part (GO:0044446) 0.818CEP290, B9D1, MKS1, KIF14, RPGRIP1L, TMEM67, NPHP3, B9D2
cytoskeletal part (GO:0044430) 2.498CEP290, B9D1, MKS1, KIF14, TMEM67, RPGRIP1L, NPHP3, B9D2
centrosome (GO:0005813) 3.756CEP290, MKS1, B9D1, RPGRIP1L, TMEM67, B9D2
microtubule organizing center (GO:0005815) 3.426CEP290, MKS1, B9D1, RPGRIP1L, TMEM67, B9D2
ciliary basal body (GO:0036064) 5.364B9D1, RPGRIP1L, MKS1, B9D2
intracellular membrane-bounded organelle (GO:0043231) 0.64CEP290, KIF14, B9D2, TMEM67
integral component of membrane (GO:0016021) 1.144TMEM216, TMEM231, TCTN2, TMEM67
membrane part (GO:0044425) 0.954TMEM216, TMEM231, TCTN2, TMEM67
membrane-bounded organelle (GO:0043227) 0.474CEP290, KIF14, B9D2, TMEM67
intrinsic component of membrane (GO:0031224) 1.134TMEM216, TMEM231, TMEM67, TCTN2
plasma membrane region (GO:0098590) 2.973TMEM231, TMEM67, TCTN2
organelle membrane (GO:0031090) 1.973TMEM231, TMEM67, TCTN2
ciliary membrane (GO:0060170) 5.433TMEM231, TCTN2, TMEM67
nucleus (GO:0005634) 1.073KIF14, CEP290, B9D2
cell projection membrane (GO:0031253) 4.113TMEM231, TCTN2, TMEM67
plasma membrane (GO:0005886) 1.393KIF14, TMEM231, TMEM67
plasma membrane part (GO:0044459) 1.953TMEM231, TMEM67, TCTN2
bounding membrane of organelle (GO:0098588) 2.393TMEM231, TMEM67, TCTN2
kinesin complex (GO:0005871) 5.742NPHP3, KIF14
primary cilium (GO:0072372) 4.642NPHP3, CEP290
microtubule associated complex (GO:0005875) 4.792KIF14, NPHP3
centriole (GO:0005814) 5.152CEP290, MKS1
microtubule organizing center part (GO:0044450) 4.82CEP290, MKS1

NET-GE enrichment

Term New enriched termICP valueGenes
protein complex (GO:0043234) -1.510.0TMEM216, KIF14, TCTN2, MKS1, CEP290, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
ciliary transition zone (GO:0035869) -6.620.0B9D1, CC2D2A, B9D2, TMEM231
TCTN-B9D complex (GO:0036038) -7.320.0TMEM216, CEP290, TCTN2, MKS1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
cell projection part (GO:0044463) -2.970.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
non-membrane-bounded organelle (GO:0043228) -1.760.0TMEM216, CEP290, TCTN2, MKS1, KIF14, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
intracellular non-membrane-bounded organelle (GO:0043232) -1.760.0TMEM216, KIF14, TCTN2, MKS1, CEP290, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
ciliary basal body (GO:0036064) -5.360.0B9D1, CEP290, RPGRIP1L, MKS1, B9D2
ciliary membrane (GO:0060170) -5.430.039CEP290, TMEM231, TMEM67, B9D2
centrosome (GO:0005813) -3.750.002CEP290, MKS1, B9D1, RPGRIP1L, TMEM67, B9D2
cytoskeleton (GO:0005856) -2.550.001TMEM216, KIF14, B9D1, TCTN2, CEP290, TMEM67, CC2D2A, B9D2
cilium (GO:0005929) -3.890.009TMEM216, CEP290, NPHP3, B9D2, RPGRIP1L
microtubule organizing center (GO:0005815) -3.420.0CEP290, MKS1, B9D1, RPGRIP1L, TMEM67, B9D2
cytoskeletal part (GO:0044430) -2.490.001KIF14, B9D1, MKS1, CEP290, TMEM67, RPGRIP1L, B9D2
ciliary part (GO:0044441) -4.050.0TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
macromolecular complex (GO:0032991) -1.350.002TMEM216, KIF14, TCTN2, MKS1, CEP290, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
organelle part (GO:0044422) -0.790.009TMEM216, KIF14, TCTN2, MKS1, TMEM231, CEP290, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2