Disease table of JOUBERT SYNDROME OMIM ID: PS213300

Gene-disease associations table

Gene	Associated with JOUBERT SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
TMEM138	ClinVar, OMIM, HUMSAVAR	HGNC link	11q12.2	1	PS213300
AHI1	ClinVar, OMIM, HUMSAVAR	HGNC link	6q23.3	1	PS213300
KIAA0586	ClinVar, OMIM, HUMSAVAR	HGNC link	14q23.1	2	PS213300, PS208500
NPHP1	OMIM	HGNC link	2q13	3	PS213300, 266900, PS256100
CEP104	ClinVar, OMIM	HGNC link	1p36.32	1	PS213300
TCTN2	ClinVar, OMIM	HGNC link	12q24.31	2	PS213300, PS249000
TCTN3	ClinVar, OMIM, HUMSAVAR	HGNC link	10q24.1	2	PS213300, 258860
TCTN1	ClinVar, OMIM	HGNC link	12q24.11	1	PS213300
MKS1	ClinVar	HGNC link	17q22	3	PS213300, PS209900, PS249000
RPGRIP1L	ClinVar, OMIM, HUMSAVAR	HGNC link	16q12.2	3	PS213300, 216360, PS249000
OFD1	ClinVar, OMIM	HGNC link	Xp22.2	4	311200, PS213300, PS268000, 300209
C5orf42	ClinVar, OMIM, HUMSAVAR	HGNC link	5p13.2	2	PS213300, 277170
ZNF423	ClinVar, OMIM, HUMSAVAR	HGNC link	16q12.1	2	PS213300, PS256100
ARL13B	ClinVar, OMIM, HUMSAVAR	HGNC link	3q11.1	1	PS213300
KIAA0556	ClinVar, OMIM	HGNC link	16p12.1	1	PS213300
KIF7	ClinVar, OMIM, HUMSAVAR	HGNC link	15q26.1	5	146510, PS236680, PS209900, 607131, PS213300
CEP41	ClinVar, OMIM	HGNC link	7q32.2	1	PS213300
CC2D2A	ClinVar, OMIM, HUMSAVAR	HGNC link	4p15.32	3	PS213300, 216360, PS249000
TMEM67	ClinVar, OMIM, HUMSAVAR	HGNC link	8q22.1	5	PS249000, PS213300, PS256100, 216360, PS209900
INPP5E	ClinVar, OMIM, HUMSAVAR	HGNC link	9q34.3	2	PS213300, 610156
EXOC8	ClinVar	HGNC link	1q42.2	1	PS213300
CEP290	ClinVar, OMIM, HUMSAVAR	HGNC link	12q21.32	5	PS249000, PS213300, PS204000, 610189, PS209900
TMEM216	ClinVar, OMIM, HUMSAVAR	HGNC link	11q12.2	2	PS213300, PS249000
PDE6D	ClinVar, OMIM	HGNC link	2q37.1	1	PS213300
TMEM237	ClinVar, OMIM	HGNC link	2q33.1	1	PS213300
TMEM231	ClinVar, OMIM, HUMSAVAR	HGNC link	16q23.1	2	PS213300, PS249000
CSPP1	ClinVar, OMIM	HGNC link	8q13.1	1	PS213300

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
11q12.2	2	TMEM138, TMEM216

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
16q12	2	RPGRIP1L, ZNF423
12q24	2	TCTN1, TCTN2
11q12	2	TMEM138, TMEM216

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
12q2	3	CEP290, TCTN1, TCTN2
2q3	2	PDE6D, TMEM237
16q1	2	RPGRIP1L, ZNF423
11q1	2	TMEM138, TMEM216

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
8q	2	TMEM67, CSPP1
2q	3	PDE6D, TMEM237, NPHP1
12q	3	CEP290, TCTN1, TCTN2
11q	2	TMEM138, TMEM216
16q	3	RPGRIP1L, TMEM231, ZNF423

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
11	2	TMEM138, TMEM216
12	3	CEP290, TCTN1, TCTN2
16	4	RPGRIP1L, KIAA0556, TMEM231, ZNF423
1	2	CEP104, EXOC8
2	3	PDE6D, TMEM237, NPHP1
8	2	TMEM67, CSPP1

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
TMEM138	MKS1	No	1	TMEM17
TMEM138	ARL13B	No	1	TMEM17
TMEM138	TMEM237	No	1	TMEM17
AHI1	NPHP1	No	4	KHDRBS1, ECD, DNM2, UNC45A
AHI1	CEP104	No	8	MB21D2, CCDC138, HAUS8, LRRC49, OFD1, CEP131, SSX2IP, PCM1
AHI1	TCTN2	No	1	ELAVL1
AHI1	TCTN3	No	1	CC2D2A
AHI1	TCTN1	No	1	DNM2
AHI1	MKS1	No	6	MB21D2, LRRC49, CAD, CC2D2A, HAUS8, UNC45A
AHI1	RPGRIP1L	No	7	CCDC138, HAUS8, SIRT2, OFD1, CEP131, SSX2IP, PCM1
AHI1	OFD1	Yes	12	DNM2, CCDC138, MED4, DSP, HAUS8, WRAP73, OFD1, UNC45A, CEP131, CC2D2A, SSX2IP, PCM1
AHI1	KIF7	No	4	SSX2IP, CEP131, PCM1, MED4
AHI1	CC2D2A	Yes	9	MB21D2, CCDC138, HAUS8, OFD1, UNC45A, CEP131, SRP72, SSX2IP, PCM1
AHI1	EXOC8	No	2	ELAVL1, PCM1
AHI1	CEP290	No	10	CCDC138, MED4, HAUS8, WRAP73, LRRC49, OFD1, IQCB1, CEP131, SSX2IP, PCM1
AHI1	TMEM216	No	2	MB21D2, ELAVL1
AHI1	TMEM237	No	1	SRP72
AHI1	CSPP1	No	4	OFD1, SSX2IP, PCM1, MED4
KIAA0586	TCTN3	No	1	DYNLT1
KIAA0586	RPGRIP1L	No	1	KIAA0753
KIAA0586	OFD1	No	3	CENPJ, KIAA0753, CEP120
KIAA0586	KIF7	No	2	CENPJ, KIAA0753
KIAA0586	CEP290	No	1	KIAA0753
KIAA0586	CSPP1	No	3	CENPJ, KIAA0753, CEP120
NPHP1	CEP104	No	8	NUDCD3, WDR83, CACYBP, CEP170, UXT, GPATCH1, TNRC6B, RPAP3
NPHP1	TCTN2	No	4	SEC63, HYOU1, WDR41, AGK
NPHP1	TCTN3	No	8	IDH3B, SRSF2, GARS, HYOU1, TM9SF3, SEC63, HSDL2, NDUFS3
NPHP1	TCTN1	No	5	SRSF2, DNM2, HYOU1, SEC63, GARS
NPHP1	MKS1	No	10	DBT, NUDCD3, TNRC6B, PIH1D1, COPA, FKBP4, UXT, BAG2, RPAP3, UNC45A
NPHP1	RPGRIP1L	Yes	21	TMEM256, RAB6A, CEP170, GPATCH1, WDR83, TNRC6B, CEP128, DYNC1H1, SEC63, MOB4, SRSF2, PSMD7, GARS, NNT, CHTOP, ATP2B1, NPHP1, NPHP4, DBT, IDH3B, HSDL2
NPHP1	OFD1	No	37	USP22, NUDCD3, WDR83, PSMD14, WDR92, TTLL12, SRSF2, GPATCH1, RAB6A, IQGAP1, CEP128, CACYBP, HYOU1, TNRC6B, CLTC, PDRG1, RPAP3, CEP164, TMEM256, CEP170, BCAS3, DYNC1H1, PSMD7, UXT, NNT, URI1, RPGRIP1L, BAG2, IDH3B, FKBP4, COPA, DNM2, GARS, UNC45A, PIH1D1, POLR2E, SEC63
NPHP1	KIF7	No	2	USP22, CEP128
NPHP1	CC2D2A	No	3	GPATCH1, WDR83, UNC45A
NPHP1	TMEM67	No	1	PSMD14
NPHP1	CEP290	No	7	CEP170, WDR83, CEP128, FKBP4, GPATCH1, CHTOP, KDELR2
NPHP1	TMEM216	No	3	SEC63, SEC23IP, WDR41
NPHP1	TMEM237	Yes	2	COPA, NPHP1
NPHP1	CSPP1	No	2	RPGRIP1L, CEP128
CEP104	TCTN3	No	1	P4HB
CEP104	TCTN1	No	1	P4HB
CEP104	MKS1	No	11	NUDCD3, SUGT1, NUDCD2, MB21D2, HAUS7, CC2D1A, UXT, LRRC49, TNRC6B, RPAP3, HAUS8
CEP104	RPGRIP1L	No	26	CSPP1, WDR83, HAUS8, GPATCH1, CCP110, HAUS3, TCHP, MPHOSPH9, CEP162, OFD1, TNRC6B, SSX2IP, CEP170, CCDC138, LUZP1, UPF1, CEP350, KIAA1671, PCM1, KIF14, NME7, HAUS6, TP53BP2, TJP1, CEP97, CEP131
CEP104	OFD1	Yes	36	KIAA1524, WDR83, TP53BP2, HAUS8, NUDCD3, GPATCH1, HAUS3, CSPP1, CC2D1A, HAUS7, MPHOSPH9, CEP162, SUGT1, OFD1, MAPRE1, ERC1, TNRC6B, RPAP3, SSX2IP, NEDD1, CEP170, CCDC138, LUZP1, TCHP, UXT, CEP350, ADSL, KIAA1671, PCM1, CEP290, NME7, HAUS6, CDC37, PLK1, CEP131, CACYBP
CEP104	ZNF423	No	1	CEP290
CEP104	KIF7	No	4	CEP290, SSX2IP, CEP131, PCM1
CEP104	CC2D2A	No	10	MB21D2, WDR83, CCDC138, HAUS8, XRN1, GPATCH1, OFD1, CEP131, SSX2IP, PCM1
CEP104	EXOC8	No	1	PCM1
CEP104	CEP290	Yes	32	CSPP1, WDR83, SSX2IP, CEP76, GPATCH1, CCP110, HAUS3, ARPC3, TCHP, MPHOSPH9, CEP162, HAUS7, MAPRE1, OFD1, C21ORF2, HAUS8, NEDD1, CEP170, CCDC138, LUZP1, CALM2, HERC2, CEP350, AHCY, PCM1, KIF14, NME7, HAUS6, LRRC49, NEK1, CEP97, CEP131
CEP104	TMEM216	No	2	MB21D2, APBB1
CEP104	CSPP1	Yes	6	CEP290, NME7, CEP162, OFD1, SSX2IP, PCM1
TCTN2	TCTN3	No	168	DNAJB11, HMOX2, SCD5, SPCS1, VEZT, NDUFS8, DAD1, MBOAT2, KIAA1715, ATP2A2, CISD2, RPN1, FADS2, GOSR2, VRK2, TMCO1, RHBDD2, CCDC115, FBXO6, RABL3, MLEC, BRI3BP, CACNA1A, SRPRB, SOAT1, CLGN, ALG9, EMC6, DNAJC1, EBP, CERS2, IKBIP, WLS, SURF4, PTPLB, VKORC1L1, JPH1, PREB, DHCR7, TP53I11, RAB31, B9D2, SEC63, ATP6AP2, CANX, TMEM120B, BET1, CAMLG, ZMYM6NB, ADIPOR2, NDC1, TMPO, DDX47, ARL6IP5, C1QBP, KRTCAP2, CDKAL1, HSP90B1, SLC33A1, SEC22B, RTN3, EMC2, CLCC1, LOC100129118, UBXN4, AUP1, CYB5R3, LBR, MMGT1, PIGU, PLOD3, ZMPSTE24, ALG3, MFSD10, ATP6AP1, CCDC47, PDIA6, ATP13A1, PDIA4, LRRC59, SGPL1, EMC3, LMBR1L, RAB7A, DGKE, TMEM199, PTPN1, DDOST, TOR1AIP1, FKBP8, AGPAT6, ACSL3, TMEM43, CNIH4, TRIM13, SEC11A, HSPA5, PGRMC2, DHRS7, TAP2, DEPDC1B, NSDHL, REEP2, EMC1, NDUFA5, ATP6V1F, RER1, STT3B, LPCAT3, JAGN1, TMEM109, ALDH3A2, TMX1, STIM1, UBE2J1, EMC8, DNAJC16, PIGS, SSR3, EMD, LMAN1, TLCD1, CLPTM1L, EMC7, YKT6, EMC4, TMEM38B, POR, OSBPL8, GPR89A, ABHD12, SPCS3, LEMD3, TMEM209, PTDSS1, EMC10, HM13, SCD, BCAP31, PTPLAD1, RFT1, DHRS7B, MAGT1, DOLPP1, NUS1, AAAS, HYOU1, HSD17B12, TBL2, CKAP4, LMF2, RAB1A, AGPAT9, TMX3, ESYT1, TLCD2, PRAF2, VMA21, VMP1, ITGB1, ANO6, TMEM214, SPCS2, RPN2, SLC39A7, MBOAT7, SRPR, APOL2
TCTN2	TCTN1	No	29	CANX, DDOST, TOR1AIP1, CKAP4, SPCS3, DNAJB11, DDX47, BCAP31, HSPA5, RPN1, HSP90B1, MAGT1, EMC1, CLCC1, HYOU1, STT3B, MLEC, BRI3BP, TMX1, EMC8, IKBIP, SEC11A, PDIA6, LMAN1, PDIA4, RPN2, SLC39A7, SEC63, EMC3
TCTN2	MKS1	Yes	2	B9D2, TMEM231
TCTN2	RPGRIP1L	No	4	PTPLB, SEC63, DDX47, EMC3
TCTN2	OFD1	No	3	HYOU1, SEC63, EMC3
TCTN2	CC2D2A	No	2	B9D2, MKS1
TCTN2	TMEM67	No	27	ATP6AP2, 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
TCTN2	EXOC8	No	1	ELAVL1
TCTN2	CEP290	No	3	BCAP31, DDX47, CYB5R3
TCTN2	TMEM216	No	97	HMOX2, 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
TCTN2	TMEM237	No	15	CKAP4, CDKAL1, EMC8, TOR1AIP1, EMD, ALDH3A2, EMC6, EMC2, MMGT1, LRRC59, EMC1, CCDC47, BCAP31, SRPR, EMC3
TCTN2	TMEM231	Yes	4	FBXO6, BTNL8, B9D2, MKS1
TCTN3	TCTN1	No	58	DNAJB11, DDOST, NUCB2, TOR1AIP1, PDIA4, GRAMD1A, SPCS3, CANX, DDX47, SEP15, GARS, RCN1, TMED2, HSPA5, BCAP31, RCN2, RPN1, ERP29, EMC3, TXNDC5, MAGT1, DNAJC10, EMC1, CLCC1, DNAJC3, HYOU1, STT3B, MLEC, PPIB, UGGT1, CKAP4, BRI3BP, NCLN, PRKCSH, ERO1L, SRSF2, CALU, NUP205, TMX1, ERO1LB, TMTC3, EMC8, PDIA3, IKBIP, LRPAP1, HSP90B1, SEC11A, PDIA6, PLOD1, LMAN1, P4HA1, RPN2, SLC39A7, CALR, P4HB, GANAB, SEC63, TMED9
TCTN3	MKS1	No	3	CC2D2A, DNAJC11, B9D2
TCTN3	RPGRIP1L	No	17	TFRC, EMC3, GANAB, DDX54, PLOD1, ACADSB, SRSF2, GARS, DDX47, SEC63, ILVBL, RCN1, PTPLB, NXF1, IDH3B, HSDL2, RACGAP1
TCTN3	OFD1	No	11	EMC3, IDH3B, SRSF2, GARS, SEC63, HYOU1, ALDH1B1, RCN1, CC2D2A, PLOD1, PDIA3
TCTN3	KIF7	No	1	SLC39A10
TCTN3	CC2D2A	Yes	1	B9D2
TCTN3	TMEM67	No	29	ATP6AP2, TMEM199, KIAA1715, TOR1AIP1, CKAP4, SPCS3, EMC1, ATP6V0A1, DDX54, HSPA5, BCAP31, PGRMC2, RPN1, MAGT1, VRK2, EMC2, UBXN4, STT3B, ATP6AP1, SPCS2, CCDC47, VMA21, SEC11A, PREB, CAMLG, HM13, SRPR, SLC6A8, EMC3
TCTN3	CEP290	No	3	BCAP31, DDX47, CYB5R3
TCTN3	TMEM216	No	103	SMPD4, HMOX2, EIF2AK3, VEZT, KIAA1715, CISD2, CYB5B, VRK2, RHBDD2, CCDC115, RABL3, SRPRB, SOAT1, TMX1, DNAJC1, CERS2, VKORC1L1, JPH1, PREB, CAMLG, ALG9, SEC63, ATP6AP2, BET1, JAGN1, THEM6, NDC1, EMC7, GPR89A, BCAP31, SSR1, CDKAL1, TMPO, SLC33A1, SEC22B, EMC2, CLCC1, UBXN4, AUP1, CLCN7, LBR, TOR1AIP2, ARL6IP5, CCDC47, LRRC59, SLC38A2, SUN1, VANGL1, RAB7A, NSDHL, TMEM199, PTPN1, SLC30A5, TOR1AIP1, FKBP8, AGPAT6, ACSL3, PGRMC2, DHRS7, TFRC, MOSPD2, EMC1, ATP6V1F, RER1, STT3B, TMEM109, ANKLE2, ALDH3A2, STIM1, UBE2J1, EMC8, SLC12A2, SEC11A, EMD, LMAN1, TRIM13, ATP6V0A1, YKT6, EMC3, OSBPL8, POR, SLC30A6, CKAP4, SPCS3, LEMD3, TMEM209, SLC39A7, ITGB1, SLC6A8, SGPL1, SLC39A10, AGPAT9, ATP6AP1, ESYT1, UGT8, VMA21, VMP1, GOLT1B, ANO6, TMEM214, SPCS2, MMGT1, SRPR
TCTN3	TMEM237	No	16	CKAP4, GOLT1B, EMC8, TOR1AIP1, EMD, ALDH3A2, EMC6, CDKAL1, EMC2, MMGT1, LRRC59, EMC1, CCDC47, BCAP31, SRPR, EMC3
TCTN3	TMEM231	No	2	FBXO6, B9D2
TCTN1	MKS1	No	1	AP3M1
TCTN1	RPGRIP1L	No	9	RCN1, SEC63, SRSF2, GARS, DDX47, ERLIN2, PLOD1, GANAB, EMC3
TCTN1	OFD1	No	9	DNM2, PLOD1, SRSF2, GARS, HYOU1, EMC3, RCN1, SEC63, PDIA3
TCTN1	TMEM67	No	12	RPN1, SEC11A, TOR1AIP1, MAGT1, BCAP31, CKAP4, SPCS3, EMC1, STT3B, HSPA5, ERLIN2, EMC3
TCTN1	CEP290	No	2	BCAP31, DDX47
TCTN1	TMEM216	No	14	SLC39A7, SEC11A, TOR1AIP1, LMAN1, SPCS3, EMC1, CLCC1, TMX1, EMC8, STT3B, BCAP31, SEC63, CKAP4, EMC3
TCTN1	TMEM237	No	6	TOR1AIP1, CKAP4, EMC1, EMC8, BCAP31, EMC3
MKS1	RPGRIP1L	No	5	DBT, HAUS8, SHMT2, TNRC6B, ECH1
MKS1	OFD1	No	21	NUDCD3, TNRC6B, PIH1D1, COPA, UNC45A, AIP, HAUS7, HAUS8, DNAJA1, SUGT1, FKBP4, UXT, CC2D1A, TBC1D2B, RRM2, RFC5, BAG2, DNAJC7, RPAP3, CC2D2A, NUDC
MKS1	ARL13B	No	1	TMEM17
MKS1	KIAA0556	No	1	XPO1
MKS1	CEP41	No	1	XPO1
MKS1	CC2D2A	Yes	6	MB21D2, B9D1, HAUS8, B9D2, UNC45A, ECH1
MKS1	CEP290	No	6	TPGS1, LRRC49, HAUS7, FKBP4, HAUS8, ECH1
MKS1	TMEM216	No	3	ARFGAP3, MB21D2, COPB1
MKS1	TMEM237	No	3	TMEM17, COPA, ECH1
MKS1	TMEM231	Yes	3	B9D1, B9D2, TCTN2
RPGRIP1L	OFD1	Yes	57	SPICE1, WDR83, TP53BP2, HAUS8, SRSF2, CEP152, TP53, GPATCH1, HAUS3, RCN1, CEP170B, EIF4ENIF1, RAB6A, TCHP, MPHOSPH9, CEP162, CTPS1, CNTRL, DYNC1H1, OFD1, CEP170, TNRC6B, NME7, CCDC85C, LONP1, SSX2IP, PYGL, TMEM256, FAM21A, SPAG5, PCNT, CCDC138, SDCCAG3, CEP192, LCA5, LUZP1, PLEKHG1, NINL, CEP85, KIAA1671, IDH3B, PCM1, NNT, PSMD7, CEP128, HAUS6, SEC63, IFT74, CEP350, GARS, KIAA0753, CSPP1, CEP131, RAD50, CCSER2, PLOD1, EMC3
RPGRIP1L	ARL13B	No	1	IFT74
RPGRIP1L	KIAA0556	No	1	KIF2A
RPGRIP1L	KIF7	No	9	APC, SPICE1, CEP128, SSX2IP, KIAA0753, CNTRL, NINL, CEP131, PCM1
RPGRIP1L	CC2D2A	No	11	YWHAH, WDR83, CCDC138, NHP2L1, GPATCH1, OFD1, ECH1, CEP131, HAUS8, SSX2IP, PCM1
RPGRIP1L	TMEM67	No	5	PDCD11, DDX54, ERLIN2, SDHA, EMC3
RPGRIP1L	EXOC8	No	1	PCM1
RPGRIP1L	CEP290	No	28	CSPP1, 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
RPGRIP1L	TMEM216	No	4	NUP155, SEC63, TFRC, EMC3
RPGRIP1L	PDE6D	No	1	RPGR
RPGRIP1L	TMEM237	No	3	NPHP1, ECH1, EMC3
RPGRIP1L	CSPP1	Yes	12	SPICE1, CEP128, NME7, CAPZA2, CEP162, NINL, OFD1, LCA5, KIAA0753, CNTRL, SSX2IP, PCM1
OFD1	C5orf42	No	1	CEP135
OFD1	ZNF423	No	1	CEP290
OFD1	ARL13B	No	2	IFT81, IFT74
OFD1	KIF7	No	26	USP22, SPICE1, CCDC61, SSX2IP, TBC1D31, PHLDB2, BBS4, ODF2, CEP72, CEP128, KIAA0753, CNTRL, CEP135, CEP89, CEP63, CCDC77, CENPJ, NINL, PCM1, CEP290, MED4, PIBF1, CCDC8, SAV1, CEP131, CCDC18
OFD1	CC2D2A	Yes	10	WDR83, CCDC138, HAUS8, SSX2IP, GPATCH1, OFD1, UNC45A, CEP131, AHI1, PCM1
OFD1	TMEM67	No	4	RAB2A, PSMD2, PSMD14, EMC3
OFD1	EXOC8	No	3	NTRK1, EXOC4, PCM1
OFD1	CEP290	Yes	44	CSPP1, WDR83, CCDC61, HAUS8, CEP104, GPATCH1, HAUS3, WRAP73, CEP135, CEP72, TCHP, CSNK1E, MPHOSPH9, CEP162, HAUS7, MAPRE1, OFD1, HAUS6, PCNT, NME7, RAB2A, SSX2IP, NEDD1, CEP170, CEP131, CCDC138, LUZP1, KIAA0753, CCDC77, CEP350, FGFR1OP, PCM1, TBC1D31, FKBP4, CEP128, FOPNL, MED4, PIBF1, CCDC8, MIB1, PGD, CCDC14, SUPT5H, AKAP12
OFD1	TMEM216	No	3	SEC63, STAM2, EMC3
OFD1	TMEM237	No	2	COPA, EMC3
OFD1	CSPP1	Yes	36	SPICE1, LATS2, LRRCC1, SSX2IP, LCA5, CEP104, NIN, ODF2, PRKAR2A, CEP128, PLK4, CEP72, CNTRL, OFD1, CEP135, CEP89, NME7, CCDC67, PRKACB, CEP63, RPGRIP1, RPGRIP1L, CENPJ, NINL, FGFR1OP, CEP120, PCM1, CEP290, POC5, MED4, FBF1, ANKRD26, KIAA0753, CEP131, CCDC14, CEP162
C5orf42	CEP290	No	1	CAND1
C5orf42	CSPP1	No	1	CEP135
ZNF423	KIF7	No	1	CEP290
ZNF423	CEP290	Yes	0
ZNF423	CSPP1	No	1	CEP290
ARL13B	TMEM216	No	1	PDXDC1
ARL13B	PDE6D	No	1	RAB18
ARL13B	TMEM237	No	1	TMEM17
KIAA0556	CEP41	No	1	XPO1
KIF7	CC2D2A	No	3	SSX2IP, CEP131, PCM1
KIF7	EXOC8	No	1	PCM1
KIF7	CEP290	Yes	13	CCDC8, CEP128, CCDC61, SSX2IP, PIBF1, KIAA0753, CCDC77, TBC1D31, CEP72, CEP135, CEP131, MED4, PCM1
KIF7	TMEM216	No	1	SLC39A10
KIF7	CSPP1	No	14	CEP290, CEP63, CEP89, CEP128, SSX2IP, NINL, SPICE1, CNTRL, CENPJ, KIAA0753, ODF2, CEP135, MED4, PCM1
CC2D2A	EXOC8	No	1	PCM1
CC2D2A	CEP290	No	10	YWHAH, WDR83, CCDC138, HAUS8, GPATCH1, OFD1, PCM1, CEP131, SSX2IP, ECH1
CC2D2A	TMEM216	No	1	MB21D2
CC2D2A	TMEM237	No	3	SRP9, SRP72, ECH1
CC2D2A	TMEM231	No	3	B9D1, B9D2, MKS1
CC2D2A	CSPP1	No	3	OFD1, SSX2IP, PCM1
TMEM67	CEP290	No	2	RAB2A, BCAP31
TMEM67	TMEM216	No	24	ATP6AP2, TMEM199, TOR1AIP1, CKAP4, SPCS3, EMC1, KIAA1715, BCAP31, PGRMC2, SLC6A8, EMC2, UBXN4, STT3B, ATP6AP1, SPCS2, CCDC47, VMA21, SEC11A, PREB, CAMLG, ATP6V0A1, SRPR, VRK2, EMC3
TMEM67	TMEM237	No	8	TOR1AIP1, CKAP4, EMC2, EMC1, CCDC47, BCAP31, SRPR, EMC3
EXOC8	CEP290	No	1	PCM1
EXOC8	TMEM216	No	1	ELAVL1
EXOC8	TMEM231	No	1	KRT31
EXOC8	CSPP1	No	1	PCM1
CEP290	TMEM216	No	1	BCAP31
CEP290	TMEM237	No	3	BCAP31, MTPN, ECH1
CEP290	CSPP1	Yes	12	CEP104, CEP128, NME7, MED4, CEP162, KIAA0753, FGFR1OP, OFD1, PCM1, CCDC14, SSX2IP, CEP135
TMEM216	TMEM237	No	18	CKAP4, GOLT1B, MTDH, CCDC47, TOR1AIP1, EMD, KTN1, CDKAL1, LRRC59, TMEM57, MMGT1, EMC1, EMC2, EMC8, BCAP31, ALDH3A2, SRPR, EMC3
TMEM216	TMEM231	No	2	LSR, EPHA7

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

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
AHI1	NPHP1	Yes	binding	0
AHI1	TCTN2	Yes	binding	10	TMEM216, CEP290, MKS1, TMEM17, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
AHI1	TCTN1	Yes	binding	10	TMEM216, CEP290, TMEM17, MKS1, TCTN2, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
AHI1	MKS1	Yes	binding	10	TMEM216, CEP290, TCTN2, TMEM17, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
AHI1	RPGRIP1L	No	-	1	NPHP1
AHI1	OFD1	No	-	1	CEP290
AHI1	KIF7	No	-	1	NPHP1
AHI1	CC2D2A	Yes	binding	10	TMEM216, CEP290, TMEM17, MKS1, TCTN2, TCTN1, TMEM67, TMEM231, B9D1, B9D2
AHI1	TMEM67	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, TCTN1, TMEM231, MKS1, B9D1, CC2D2A, B9D2
AHI1	CEP290	Yes	binding	10	TMEM216, TMEM17, MKS1, TCTN2, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
AHI1	TMEM216	Yes	binding	10	CEP290, TMEM17, MKS1, TCTN2, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
AHI1	TMEM231	Yes	binding	10	TMEM216, CEP290, TMEM17, MKS1, TCTN2, TCTN1, TMEM67, B9D1, CC2D2A, B9D2
KIAA0586	OFD1	No	-	1	UBC
KIAA0586	CEP290	No	-	1	UBC
NPHP1	TCTN2	No	-	1	AHI1
NPHP1	TCTN1	No	-	1	AHI1
NPHP1	MKS1	No	-	1	AHI1
NPHP1	RPGRIP1L	Yes	binding	1	NPHP4
NPHP1	OFD1	No	-	1	PLK1
NPHP1	KIF7	Yes	binding	0
NPHP1	CC2D2A	No	-	1	AHI1
NPHP1	TMEM67	No	-	1	AHI1
NPHP1	CEP290	No	-	3	AHI1, INVS, PLK1
NPHP1	TMEM216	No	-	1	AHI1
NPHP1	TMEM231	No	-	1	AHI1
CEP104	OFD1	No	-	1	CCP110
CEP104	CEP290	No	-	1	CCP110
TCTN2	TCTN1	Yes	binding	10	TMEM216, CEP290, TMEM17, MKS1, AHI1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
TCTN2	MKS1	Yes	binding	10	TMEM216, CEP290, B9D1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, CC2D2A, B9D2
TCTN2	OFD1	No	-	1	CEP290
TCTN2	CC2D2A	Yes	binding	10	TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, B9D2
TCTN2	TMEM67	Yes	binding	10	TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM231, B9D1, CC2D2A, B9D2
TCTN2	CEP290	Yes	binding	10	TMEM216, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
TCTN2	TMEM216	Yes	binding	10	CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
TCTN2	TMEM231	Yes	binding	10	TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM67, B9D1, CC2D2A, B9D2
TCTN1	MKS1	Yes	binding	10	TMEM216, CEP290, TCTN2, TMEM17, AHI1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
TCTN1	OFD1	No	-	1	CEP290
TCTN1	CC2D2A	Yes	binding	10	TMEM216, CEP290, TMEM17, MKS1, TCTN2, AHI1, TMEM67, TMEM231, B9D1, B9D2
TCTN1	TMEM67	Yes	binding	10	TMEM216, CEP290, TCTN2, MKS1, AHI1, TMEM231, TMEM17, B9D1, CC2D2A, B9D2
TCTN1	CEP290	Yes	binding	10	TMEM216, TMEM17, MKS1, TCTN2, AHI1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
TCTN1	TMEM216	Yes	binding	10	CEP290, TMEM17, MKS1, TCTN2, AHI1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
TCTN1	TMEM231	Yes	binding	10	TMEM216, CEP290, TMEM17, MKS1, TCTN2, AHI1, TMEM67, B9D1, CC2D2A, B9D2
MKS1	OFD1	No	-	1	CEP290
MKS1	CC2D2A	Yes	binding	10	TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, B9D2
MKS1	TMEM67	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, B9D1, CC2D2A, B9D2
MKS1	CEP290	Yes	binding	10	TMEM216, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
MKS1	TMEM216	Yes	binding	10	CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
MKS1	TMEM231	Yes	binding	10	TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, B9D1, CC2D2A, B9D2
RPGRIP1L	KIF7	No	-	1	NPHP1
OFD1	CC2D2A	No	-	1	CEP290
OFD1	TMEM67	No	-	1	CEP290
OFD1	CEP290	Yes	binding	65	CEP76, TUBGCP5, CDK1, CDK5RAP2, CEP57, CSNK1E, SSNA1, ACTR1A, YWHAE, CEP152, CEP70, ALMS1, CSNK1D, PLK1, CEP135, TUBA4A, TUBGCP6, PRKACA, ODF2, HSP90AA1, CEP192, SFI1, DCTN2, CEP250, DYNLL1, TUBA1A, CNTRL, DYNC1H1, MAPRE1, DYNC1I2, SDCCAG8, PCNT, YWHAG, TUBGCP2, CEP164, NEDD1, CEP63, CCP110, DCTN3, CKAP5, AZI1, PRKAR2B, TUBB4B, CEP78, CENPJ, NINL, PAFAH1B1, FGFR1OP, PPP2R1A, BORA, TUBGCP3, HAUS2, AJUBA, AURKA, CLASP1, NEK2, TUBGCP4, CEP72, PCM1, TUBG2, UBC, TUBB4A, PLK4, NDE1, TUBG1
OFD1	TMEM216	No	-	1	CEP290
OFD1	TMEM231	No	-	1	CEP290
ARL13B	PDE6D	Yes	binding	0
CC2D2A	TMEM67	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, B9D2
CC2D2A	CEP290	Yes	binding	10	TMEM216, TMEM17, MKS1, TCTN2, AHI1, TCTN1, TMEM67, TMEM231, B9D1, B9D2
CC2D2A	TMEM216	Yes	binding	10	CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, TMEM231, B9D1, B9D2
CC2D2A	TMEM231	Yes	binding	10	TMEM216, CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, B9D1, B9D2
TMEM67	CEP290	Yes	binding	10	TMEM216, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, CC2D2A, B9D2
TMEM67	TMEM216	Yes	binding	10	CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, CC2D2A, B9D2
TMEM67	TMEM231	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, MKS1, B9D1, CC2D2A, B9D2
EXOC8	PDE6D	No	-	1	RAC1
CEP290	TMEM216	Yes	binding	10	TMEM17, MKS1, TCTN2, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
CEP290	TMEM231	Yes	binding	10	TMEM216, TMEM17, MKS1, TCTN2, AHI1, TCTN1, TMEM67, B9D1, CC2D2A, B9D2
TMEM216	TMEM231	Yes	binding	10	CEP290, TCTN2, TMEM17, AHI1, TCTN1, TMEM67, MKS1, B9D1, CC2D2A, 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 term	REACTOME term ID	IC	Number of genes with the same term	Genes
Assembly of the primary cilium	R-HSA-5617833	5.44	16	TMEM216, CEP290, MKS1, TCTN2, TCTN3, PDE6D, TCTN1, INPP5E, RPGRIP1L, OFD1, TMEM67, NPHP1, EXOC8, CC2D2A, ARL13B, CEP41
Organelle biogenesis and maintenance	R-HSA-1852241	4.63	16	TMEM216, CEP290, MKS1, TCTN2, TCTN3, PDE6D, TCTN1, INPP5E, RPGRIP1L, OFD1, TMEM67, NPHP1, EXOC8, CC2D2A, ARL13B, CEP41
Anchoring of the basal body to the plasma membrane	R-HSA-5620912	6.51	12	TMEM216, CEP290, MKS1, TCTN2, TCTN3, TCTN1, TMEM67, OFD1, RPGRIP1L, NPHP1, CC2D2A, CEP41
Cargo trafficking to the periciliary membrane	R-HSA-5620920	7.31	4	ARL13B, EXOC8, INPP5E, PDE6D
Hedgehog 'off' state	R-HSA-5610787	6.19	4	KIF7, OFD1, RPGRIP1L, MKS1
Signal Transduction	R-HSA-162582	1.78	4	OFD1, RPGRIP1L, KIF7, MKS1
Signaling by Hedgehog	R-HSA-5358351	5.79	4	KIF7, OFD1, RPGRIP1L, MKS1
Recruitment of mitotic centrosome proteins and complexes	R-HSA-380270	6.68	3	OFD1, CEP290, CEP41
ARL13B-mediated ciliary trafficking of INPP5E	R-HSA-5624958	11.4	3	ARL13B, PDE6D, INPP5E
Regulation of PLK1 Activity at G2/M Transition	R-HSA-2565942	6.66	3	OFD1, CEP290, CEP41
Loss of proteins required for interphase microtubule organization from the centrosome	R-HSA-380284	7.03	3	OFD1, CEP290, CEP41
Centrosome maturation	R-HSA-380287	6.68	3	OFD1, CEP290, CEP41
Mitotic G2-G2/M phases	R-HSA-453274	6.04	3	OFD1, CEP290, CEP41
Cell Cycle, Mitotic	R-HSA-69278	4.16	3	OFD1, CEP290, CEP41
Loss of Nlp from mitotic centrosomes	R-HSA-380259	7.03	3	OFD1, CEP290, CEP41
Cell Cycle	R-HSA-1640170	3.89	3	OFD1, CEP290, CEP41
G2/M Transition	R-HSA-69275	6.06	3	OFD1, CEP290, CEP41

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Recruitment of mitotic centrosome proteins and complexes (R-HSA-380270)	-	6.68	0.021	OFD1, CEP290, CEP41
ARL13B-mediated ciliary trafficking of INPP5E (R-HSA-5624958)	-	11.4	0.0	ARL13B, PDE6D, INPP5E
Hedgehog 'off' state (R-HSA-5610787)	-	6.19	0.0	CEP290, MKS1, RPGRIP1L, OFD1, NPHP1, KIF7
Regulation of PLK1 Activity at G2/M Transition (R-HSA-2565942)	-	6.66	0.037	OFD1, CEP290, CEP41
Loss of proteins required for interphase microtubule organization from the centrosome (R-HSA-380284)	-	7.03	0.008	OFD1, CEP290, CEP41
Organelle biogenesis and maintenance (R-HSA-1852241)	-	4.63	0.0	TMEM216, CEP290, MKS1, TCTN2, TCTN3, AHI1, TCTN1, OFD1, INPP5E, RPGRIP1L, PDE6D, TMEM67, NPHP1, EXOC8, CC2D2A, ARL13B, CEP41
Loss of Nlp from mitotic centrosomes (R-HSA-380259)	-	7.03	0.008	OFD1, CEP290, CEP41
Anchoring of the basal body to the plasma membrane (R-HSA-5620912)	-	6.51	0.0	TMEM216, CEP290, MKS1, TCTN2, TCTN3, AHI1, TCTN1, TMEM67, OFD1, RPGRIP1L, NPHP1, CC2D2A, CEP41
Signaling by Hedgehog (R-HSA-5358351)	-	5.79	0.0	CEP290, MKS1, RPGRIP1L, OFD1, NPHP1, KIF7
Cargo trafficking to the periciliary membrane (R-HSA-5620920)	-	7.31	0.0	EXOC8, PDE6D, ARL13B, NPHP1, INPP5E
Assembly of the primary cilium (R-HSA-5617833)	-	5.44	0.0	TMEM216, CEP290, MKS1, TCTN2, TCTN3, AHI1, TCTN1, OFD1, INPP5E, RPGRIP1L, PDE6D, TMEM67, NPHP1, EXOC8, CC2D2A, ARL13B, CEP41
Centrosome maturation (R-HSA-380287)	-	6.68	0.021	OFD1, CEP290, CEP41

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	17	CSPP1, CEP104, TMEM231, MKS1, TMEM237, EXOC8, AHI1, RPGRIP1L, CEP290, TMEM67, OFD1, ZNF423, KIF7, NPHP1, ARL13B, PDE6D, CEP41
protein binding (GO:0005515)	0.46	16	CSPP1, CEP104, TMEM231, MKS1, EXOC8, AHI1, RPGRIP1L, CEP290, TMEM67, OFD1, ZNF423, KIF7, NPHP1, ARL13B, PDE6D, CEP41
catalytic activity (GO:0003824)	1.05	4	PDE6D, TMEM237, KIF7, INPP5E
cytoskeletal protein binding (GO:0008092)	3.02	4	CEP290, OFD1, KIF7, TMEM67
hydrolase activity (GO:0016787)	1.9	3	PDE6D, INPP5E, KIF7
tubulin binding (GO:0015631)	4.1	3	OFD1, CEP290, KIF7
heterocyclic compound binding (GO:1901363)	1.06	3	ZNF423, ARL13B, KIF7
organic cyclic compound binding (GO:0097159)	1.05	3	ZNF423, ARL13B, KIF7
purine ribonucleoside triphosphate binding (GO:0035639)	2.22	2	ARL13B, KIF7
enzyme binding (GO:0019899)	2.27	2	EXOC8, PDE6D
phosphoric ester hydrolase activity (GO:0042578)	3.82	2	PDE6D, INPP5E
small GTPase binding (GO:0031267)	4.13	2	EXOC8, PDE6D
GTPase binding (GO:0051020)	4.05	2	EXOC8, PDE6D
ion binding (GO:0043167)	1.36	2	ZNF423, TMEM237
purine nucleoside binding (GO:0001883)	2.22	2	ARL13B, KIF7
nucleoside binding (GO:0001882)	2.21	2	ARL13B, KIF7
cation binding (GO:0043169)	1.4	2	ZNF423, TMEM237
nucleotide binding (GO:0000166)	1.96	2	ARL13B, KIF7
nucleoside phosphate binding (GO:1901265)	1.96	2	ARL13B, KIF7
ribonucleoside binding (GO:0032549)	2.22	2	ARL13B, KIF7
purine nucleotide binding (GO:0017076)	2.19	2	ARL13B, KIF7
metal ion binding (GO:0046872)	1.41	2	ZNF423, TMEM237
identical protein binding (GO:0042802)	2.63	2	OFD1, AHI1
microtubule binding (GO:0008017)	4.42	2	CEP290, KIF7
hydrolase activity, acting on ester bonds (GO:0016788)	3.1	2	PDE6D, INPP5E
Ras GTPase binding (GO:0017016)	4.2	2	EXOC8, PDE6D
small molecule binding (GO:0036094)	1.89	2	ARL13B, KIF7
carbohydrate derivative binding (GO:0097367)	2.03	2	ARL13B, KIF7
purine ribonucleotide binding (GO:0032555)	2.2	2	ARL13B, KIF7
purine ribonucleoside binding (GO:0032550)	2.22	2	ARL13B, KIF7
ribonucleotide binding (GO:0032553)	2.19	2	ARL13B, KIF7

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
cytoskeletal protein binding (GO:0008092)	-	3.02	0.043	CEP290, PDE6D, TMEM67, OFD1, NPHP1, EXOC8, KIF7

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	23	TMEM216, KIAA0586, INPP5E, KIF7, MKS1, TCTN2, TCTN1, OFD1, TMEM67, ZNF423, CC2D2A, TMEM237, RPGRIP1L, NPHP1, ARL13B, CEP290, C5orf42, TCTN3, AHI1, TMEM231, TMEM138, EXOC8, CEP41
single-organism cellular process (GO:0044763)	0.65	23	TMEM216, KIAA0586, INPP5E, KIF7, MKS1, TCTN2, TCTN1, OFD1, TMEM67, ZNF423, CC2D2A, TMEM237, RPGRIP1L, NPHP1, ARL13B, CEP290, C5orf42, TCTN3, AHI1, TMEM231, TMEM138, EXOC8, CEP41
single-organism process (GO:0044699)	0.48	23	TMEM216, KIAA0586, INPP5E, KIF7, MKS1, TCTN2, TCTN1, OFD1, TMEM67, ZNF423, CC2D2A, TMEM237, RPGRIP1L, NPHP1, ARL13B, CEP290, C5orf42, TCTN3, AHI1, TMEM231, TMEM138, EXOC8, CEP41
developmental process (GO:0032502)	1.36	20	TMEM216, CEP290, ZNF423, C5orf42, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, TMEM67, RPGRIP1L, KIAA0586, CEP41, NPHP1, ARL13B, CC2D2A, TMEM138
cellular component organization (GO:0016043)	1.24	20	TMEM216, CEP290, TMEM231, C5orf42, MKS1, TCTN2, TMEM237, TCTN3, EXOC8, AHI1, TCTN1, OFD1, TMEM67, RPGRIP1L, KIAA0586, CEP41, NPHP1, ARL13B, CC2D2A, TMEM138
single-organism developmental process (GO:0044767)	1.49	20	TMEM216, CEP290, ZNF423, C5orf42, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, TMEM67, RPGRIP1L, KIAA0586, CEP41, NPHP1, ARL13B, CC2D2A, TMEM138
biological regulation (GO:0065007)	0.39	20	CEP290, TMEM231, MKS1, TCTN2, TMEM237, TCTN3, EXOC8, AHI1, TCTN1, ZNF423, INPP5E, RPGRIP1L, KIAA0586, TMEM67, NPHP1, CSPP1, ARL13B, CC2D2A, KIF7, PDE6D
regulation of biological process (GO:0050789)	0.45	20	EXOC8, CSPP1, ZNF423, TCTN2, KIAA0586, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, CEP290, INPP5E, RPGRIP1L, MKS1, TMEM67, NPHP1, ARL13B, CC2D2A, KIF7, PDE6D
cellular component organization or biogenesis (GO:0071840)	1.22	20	TMEM216, CEP290, C5orf42, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, TMEM67, RPGRIP1L, KIAA0586, TMEM138, NPHP1, EXOC8, CC2D2A, ARL13B, CEP41
cell projection organization (GO:0030030)	3.14	19	TMEM216, CEP290, C5orf42, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, TMEM67, RPGRIP1L, KIAA0586, CEP41, NPHP1, ARL13B, CC2D2A, TMEM138
regulation of cellular process (GO:0050794)	0.5	19	CEP290, TMEM231, MKS1, TCTN2, TMEM237, TCTN3, EXOC8, AHI1, TCTN1, ZNF423, INPP5E, RPGRIP1L, KIAA0586, TMEM67, NPHP1, CSPP1, ARL13B, CC2D2A, KIF7
organelle organization (GO:0006996)	2.02	18	TMEM216, CEP290, C5orf42, MKS1, TCTN2, TMEM237, TMEM231, AHI1, RPGRIP1L, OFD1, TMEM67, KIAA0586, TMEM138, NPHP1, EXOC8, CC2D2A, ARL13B, CEP41
single-organism organelle organization (GO:1902589)	2.68	17	TMEM216, CEP290, C5orf42, MKS1, TCTN2, TMEM237, TMEM231, AHI1, RPGRIP1L, OFD1, TMEM67, KIAA0586, TMEM138, NPHP1, ARL13B, CC2D2A, CEP41
cellular component assembly (GO:0022607)	2.14	17	TMEM216, CEP290, C5orf42, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, OFD1, TMEM67, MKS1, TMEM138, ARL13B, CC2D2A, CEP41, EXOC8
organelle assembly (GO:0070925)	3.75	16	TMEM216, CEP290, C5orf42, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, OFD1, TMEM67, MKS1, TMEM138, ARL13B, CC2D2A, CEP41
anatomical structure formation involved in morphogenesis (GO:0048646)	3.01	16	TMEM216, CEP290, C5orf42, MKS1, TCTN2, TMEM237, TMEM231, AHI1, TCTN1, TMEM67, RPGRIP1L, KIAA0586, CEP41, ARL13B, CC2D2A, TMEM138
cellular component assembly involved in morphogenesis (GO:0010927)	4.29	15	TMEM216, CEP290, C5orf42, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, TMEM67, MKS1, TMEM138, ARL13B, CC2D2A, CEP41
cell projection assembly (GO:0030031)	4.19	15	TMEM216, CEP290, C5orf42, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, TMEM67, MKS1, TMEM138, ARL13B, CC2D2A, CEP41
cilium organization (GO:0044782)	4.67	15	TMEM216, CEP290, C5orf42, MKS1, TCTN2, TMEM237, TMEM231, AHI1, RPGRIP1L, TMEM67, KIAA0586, TMEM138, ARL13B, CC2D2A, CEP41
cilium assembly (GO:0042384)	4.77	15	TMEM216, CEP290, C5orf42, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, TMEM67, MKS1, TMEM138, ARL13B, CC2D2A, CEP41
cellular developmental process (GO:0048869)	1.82	15	TMEM216, CEP290, TCTN2, KIAA0586, TCTN3, AHI1, TCTN1, ZNF423, TMEM67, OFD1, MKS1, RPGRIP1L, NPHP1, ARL13B, CC2D2A
anatomical structure morphogenesis (GO:0009653)	2.53	14	TMEM216, CEP290, MKS1, TCTN2, C5orf42, TCTN3, AHI1, TCTN1, OFD1, TMEM67, KIAA0586, RPGRIP1L, ARL13B, CC2D2A
cellular component morphogenesis (GO:0032989)	3.5	13	TMEM216, CEP290, MKS1, TCTN2, TCTN3, AHI1, TCTN1, OFD1, TMEM67, KIAA0586, RPGRIP1L, ARL13B, CC2D2A
cell projection morphogenesis (GO:0048858)	4.05	12	TMEM216, CEP290, MKS1, TCTN2, TCTN3, AHI1, TCTN1, OFD1, TMEM67, KIAA0586, RPGRIP1L, CC2D2A
cilium morphogenesis (GO:0060271)	5.54	12	TMEM216, CEP290, TCTN2, KIAA0586, TCTN3, AHI1, TCTN1, OFD1, TMEM67, MKS1, RPGRIP1L, CC2D2A
cell part morphogenesis (GO:0032990)	3.99	12	TMEM216, CEP290, TCTN2, KIAA0586, TCTN3, AHI1, TCTN1, OFD1, TMEM67, MKS1, RPGRIP1L, CC2D2A
multicellular organismal process (GO:0032501)	1.45	9	MKS1, AHI1, TCTN1, PDE6D, RPGRIP1L, ZNF423, NPHP1, ARL13B, CC2D2A
anatomical structure development (GO:0048856)	1.58	9	CEP290, C5orf42, MKS1, AHI1, TCTN1, RPGRIP1L, ZNF423, NPHP1, CC2D2A
signal transduction (GO:0007165)	1.28	9	TCTN2, KIAA0586, TCTN3, AHI1, TMEM231, ZNF423, NPHP1, ARL13B, CC2D2A
single-multicellular organism process (GO:0044707)	1.78	8	MKS1, AHI1, TCTN1, RPGRIP1L, ZNF423, NPHP1, ARL13B, CC2D2A
cell surface receptor signaling pathway (GO:0007166)	2.09	8	TCTN2, KIAA0586, TCTN3, AHI1, TMEM231, ZNF423, ARL13B, CC2D2A
pattern specification process (GO:0007389)	3.79	6	MKS1, AHI1, TCTN1, RPGRIP1L, ARL13B, CC2D2A
smoothened signaling pathway (GO:0007224)	5.45	6	TCTN2, KIAA0586, TCTN3, TMEM231, ARL13B, CC2D2A
regulation of signal transduction (GO:0009966)	1.84	6	MKS1, TCTN1, RPGRIP1L, ZNF423, KIF7, TMEM237
regulation of response to stimulus (GO:0048583)	1.54	6	MKS1, TCTN1, RPGRIP1L, ZNF423, KIF7, TMEM237
animal organ development (GO:0048513)	2.53	6	CEP290, C5orf42, MKS1, AHI1, RPGRIP1L, CC2D2A
regulation of signaling (GO:0023051)	1.72	6	MKS1, TCTN1, RPGRIP1L, ZNF423, KIF7, TMEM237
positive regulation of biological process (GO:0048518)	1.2	6	CEP290, AHI1, CSPP1, INPP5E, ZNF423, KIF7
negative regulation of biological process (GO:0048519)	1.33	6	AHI1, RPGRIP1L, ZNF423, TMEM67, PDE6D, KIF7
regulation of cell communication (GO:0010646)	1.73	6	MKS1, TCTN1, RPGRIP1L, ZNF423, KIF7, TMEM237
positive regulation of cellular process (GO:0048522)	1.3	6	CEP290, AHI1, CSPP1, INPP5E, ZNF423, KIF7
embryonic morphogenesis (GO:0048598)	3.72	5	ARL13B, RPGRIP1L, AHI1, MKS1, C5orf42
primary metabolic process (GO:0044238)	0.69	5	ZNF423, CEP41, TMEM237, TMEM67, INPP5E
protein localization (GO:0008104)	2.36	5	CEP290, EXOC8, AHI1, CEP41, C5orf42
cellular metabolic process (GO:0044237)	0.69	5	ZNF423, CEP41, TMEM237, TMEM67, INPP5E
organic substance metabolic process (GO:0071704)	0.63	5	ZNF423, CEP41, TMEM237, TMEM67, INPP5E
metabolic process (GO:0008152)	0.58	5	ZNF423, CEP41, TMEM237, TMEM67, INPP5E
macromolecule localization (GO:0033036)	2.34	5	CEP290, EXOC8, AHI1, CEP41, C5orf42
localization (GO:0051179)	1.4	5	CEP290, EXOC8, AHI1, CEP41, C5orf42
negative regulation of cellular process (GO:0048523)	1.41	5	AHI1, ZNF423, RPGRIP1L, KIF7, TMEM67
regulation of smoothened signaling pathway (GO:0008589)	5.62	4	TCTN1, KIF7, MKS1, RPGRIP1L
determination of left/right symmetry (GO:0007368)	5.38	4	ARL13B, CC2D2A, RPGRIP1L, MKS1
transport (GO:0006810)	1.51	4	CEP290, EXOC8, AHI1, CEP41
determination of bilateral symmetry (GO:0009855)	5.37	4	ARL13B, CC2D2A, RPGRIP1L, MKS1
specification of symmetry (GO:0009799)	5.36	4	ARL13B, CC2D2A, RPGRIP1L, MKS1
establishment of localization (GO:0051234)	1.48	4	CEP290, EXOC8, AHI1, CEP41
tube formation (GO:0035148)	4.98	3	CC2D2A, TCTN1, MKS1
positive regulation of metabolic process (GO:0009893)	1.74	3	CEP290, ZNF423, AHI1
regulation of metabolic process (GO:0019222)	1.02	3	CEP290, AHI1, ZNF423
positive regulation of biosynthetic process (GO:0009891)	2.29	3	CEP290, ZNF423, AHI1
G2/M transition of mitotic cell cycle (GO:0000086)	4.84	3	OFD1, CEP290, CEP41
regulation of cellular biosynthetic process (GO:0031326)	1.38	3	CEP290, AHI1, ZNF423
positive regulation of cellular metabolic process (GO:0031325)	1.81	3	CEP290, AHI1, ZNF423
cell differentiation (GO:0030154)	2.14	3	ZNF423, TCTN1, NPHP1
regulation of cellular metabolic process (GO:0031323)	1.07	3	CEP290, AHI1, ZNF423
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	3	CEP290, ZNF423, AHI1
mitotic cell cycle process (GO:1903047)	3.12	3	OFD1, CEP290, CEP41
regulation of cellular component organization (GO:0051128)	2.01	3	AHI1, INPP5E, TMEM67
cell cycle phase transition (GO:0044770)	4.24	3	OFD1, CEP290, CEP41
mitotic cell cycle phase transition (GO:0044772)	4.27	3	OFD1, CEP290, CEP41
positive regulation of gene expression (GO:0010628)	2.35	3	CEP290, ZNF423, AHI1
cell cycle process (GO:0022402)	2.75	3	OFD1, CEP290, CEP41
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	3	CEP290, AHI1, ZNF423
multicellular organism development (GO:0007275)	2.54	3	ZNF423, TCTN1, RPGRIP1L
regulation of primary metabolic process (GO:0080090)	1.08	3	CEP290, AHI1, ZNF423
morphogenesis of an epithelium (GO:0002009)	4.08	3	ARL13B, AHI1, MKS1
organic substance catabolic process (GO:1901575)	2.45	3	TMEM237, TMEM67, INPP5E
regulation of localization (GO:0032879)	1.94	3	AHI1, CEP290, KIAA0586
cell cycle G2/M phase transition (GO:0044839)	4.82	3	OFD1, CEP290, CEP41
cellular macromolecule metabolic process (GO:0044260)	0.93	3	ZNF423, CEP41, TMEM67
cellular macromolecule localization (GO:0070727)	3.1	3	EXOC8, AHI1, C5orf42
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	3	CEP290, AHI1, ZNF423
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	3	CEP290, AHI1, ZNF423
kidney development (GO:0001822)	4.79	3	CEP290, C5orf42, RPGRIP1L
regulation of developmental process (GO:0050793)	2.1	3	AHI1, INPP5E, MKS1
tissue morphogenesis (GO:0048729)	3.87	3	ARL13B, AHI1, MKS1
organic substance transport (GO:0071702)	2.15	3	EXOC8, CEP290, CEP41
regulation of gene expression (GO:0010468)	1.37	3	CEP290, ZNF423, AHI1
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	3	CEP290, ZNF423, AHI1
tube morphogenesis (GO:0035239)	4.35	3	ARL13B, AHI1, MKS1
nonmotile primary cilium assembly (GO:0035058)	6.51	3	ARL13B, CC2D2A, MKS1
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	3	CEP290, AHI1, ZNF423
cellular protein localization (GO:0034613)	3.11	3	EXOC8, AHI1, C5orf42
regulation of biosynthetic process (GO:0009889)	1.37	3	CEP290, ZNF423, AHI1
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	3	CEP290, ZNF423, AHI1
establishment of protein localization (GO:0045184)	2.53	3	EXOC8, CEP290, CEP41
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	3	CEP290, AHI1, ZNF423
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	3	CEP290, AHI1, ZNF423
regulation of multicellular organismal process (GO:0051239)	1.87	3	AHI1, INPP5E, MKS1
regulation of RNA biosynthetic process (GO:2001141)	1.55	3	CEP290, AHI1, ZNF423
movement of cell or subcellular component (GO:0006928)	2.61	3	ARL13B, OFD1, KIF7
catabolic process (GO:0009056)	2.38	3	TMEM237, TMEM67, INPP5E
cellular localization (GO:0051641)	2.32	3	EXOC8, AHI1, C5orf42
microtubule-based process (GO:0007017)	3.54	3	OFD1, CC2D2A, KIF7
cytoskeleton organization (GO:0007010)	3.22	3	CC2D2A, OFD1, NPHP1
sensory organ development (GO:0007423)	4.82	3	CC2D2A, AHI1, RPGRIP1L
regulation of macromolecule metabolic process (GO:0060255)	1.08	3	CEP290, AHI1, ZNF423
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	3	CEP290, ZNF423, AHI1
regulation of RNA metabolic process (GO:0051252)	1.52	3	CEP290, AHI1, ZNF423
positive regulation of RNA metabolic process (GO:0051254)	2.51	3	CEP290, AHI1, ZNF423
macromolecule metabolic process (GO:0043170)	0.83	3	ZNF423, CEP41, TMEM67
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	3	CEP290, ZNF423, AHI1
regulation of transcription, DNA-templated (GO:0006355)	1.56	3	CEP290, ZNF423, AHI1
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	3	CEP290, ZNF423, AHI1
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	3	CEP290, AHI1, ZNF423
regulation of multicellular organismal development (GO:2000026)	2.31	3	AHI1, INPP5E, MKS1
protein transport (GO:0015031)	2.62	3	EXOC8, CEP290, CEP41
system development (GO:0048731)	2.92	3	ZNF423, AHI1, MKS1
regionalization (GO:0003002)	4.24	3	ARL13B, TCTN1, RPGRIP1L
telencephalon development (GO:0021537)	6.4	2	TCTN1, RPGRIP1L
heart development (GO:0007507)	4.24	2	CC2D2A, C5orf42
single organismal cell-cell adhesion (GO:0016337)	3.69	2	CEP41, NPHP1
neural tube patterning (GO:0021532)	7.94	2	ARL13B, RPGRIP1L
regulation of anatomical structure morphogenesis (GO:0022603)	2.79	2	AHI1, MKS1
regulation of transport (GO:0051049)	2.24	2	AHI1, CEP290
negative regulation of response to stimulus (GO:0048585)	2.52	2	RPGRIP1L, KIF7
positive regulation of response to stimulus (GO:0048584)	2.18	2	ZNF423, KIF7
nitrogen compound metabolic process (GO:0006807)	1.13	2	ZNF423, TMEM237
positive regulation of signaling (GO:0023056)	2.41	2	ZNF423, KIF7
embryo development (GO:0009790)	4.2	2	TCTN1, RPGRIP1L
regulation of Wnt signaling pathway (GO:0030111)	3.98	2	TMEM237, MKS1
head development (GO:0060322)	7.02	2	RPGRIP1L, MKS1
establishment of tissue polarity (GO:0007164)	6.84	2	C5orf42, RPGRIP1L
small molecule metabolic process (GO:0044281)	2.38	2	INPP5E, TMEM237
axis specification (GO:0009798)	5.42	2	ARL13B, AHI1
positive regulation of cell communication (GO:0010647)	2.41	2	ZNF423, KIF7
regulation of cell differentiation (GO:0045595)	2.42	2	AHI1, INPP5E
cellular biosynthetic process (GO:0044249)	1.37	2	ZNF423, INPP5E
organic cyclic compound metabolic process (GO:1901360)	1.26	2	ZNF423, TMEM237
regulation of protein localization (GO:0032880)	2.88	2	CEP290, KIAA0586
single-organism catabolic process (GO:0044712)	3.21	2	INPP5E, TMEM237
nucleobase-containing compound metabolic process (GO:0006139)	1.35	2	ZNF423, TMEM237
single-organism metabolic process (GO:0044710)	1.63	2	INPP5E, TMEM237
in utero embryonic development (GO:0001701)	4.4	2	TCTN1, RPGRIP1L
negative regulation of signal transduction (GO:0009968)	2.75	2	RPGRIP1L, KIF7
positive regulation of signal transduction (GO:0009967)	2.5	2	ZNF423, KIF7
regulation of cell cycle process (GO:0010564)	3.5	2	CSPP1, TMEM67
heart looping (GO:0001947)	5.65	2	ARL13B, AHI1
neural tube closure (GO:0001843)	5.38	2	CC2D2A, MKS1
motile primary cilium assembly (GO:1903887)	8.34	2	CC2D2A, MKS1
regulation of transcription from RNA polymerase II promoter (GO:0006357)	2.24	2	ZNF423, AHI1
embryonic organ development (GO:0048568)	4.86	2	CC2D2A, MKS1
embryo development ending in birth or egg hatching (GO:0009792)	4.35	2	TCTN1, RPGRIP1L
epithelial tube morphogenesis (GO:0060562)	5.12	2	ARL13B, AHI1
chordate embryonic development (GO:0043009)	4.38	2	TCTN1, RPGRIP1L
system process (GO:0003008)	2.3	2	PDE6D, NPHP1
embryonic brain development (GO:1990403)	7.78	2	CC2D2A, MKS1
positive regulation of cellular component organization (GO:0051130)	2.68	2	AHI1, INPP5E
regulation of establishment of protein localization (GO:0070201)	3.02	2	CEP290, KIAA0586
single organism cell adhesion (GO:0098602)	3.63	2	CEP41, NPHP1
positive regulation of transport (GO:0051050)	2.9	2	AHI1, CEP290
cell-cell adhesion (GO:0098609)	3.34	2	CEP41, NPHP1
epithelium development (GO:0060429)	4.57	2	AHI1, RPGRIP1L
cellular aromatic compound metabolic process (GO:0006725)	1.3	2	ZNF423, TMEM237
tissue development (GO:0009888)	3.27	2	AHI1, RPGRIP1L
embryonic digit morphogenesis (GO:0042733)	5.69	2	C5orf42, MKS1
tube closure (GO:0060606)	5.36	2	CC2D2A, MKS1
biosynthetic process (GO:0009058)	1.32	2	ZNF423, INPP5E
eye development (GO:0001654)	5.07	2	CC2D2A, RPGRIP1L
cell adhesion (GO:0007155)	2.82	2	CEP41, NPHP1
single-organism carbohydrate metabolic process (GO:0044723)	3.42	2	INPP5E, TMEM237
carbohydrate metabolic process (GO:0005975)	3.26	2	INPP5E, TMEM237
cerebellum development (GO:0021549)	5.8	2	C5orf42, RPGRIP1L
negative regulation of signaling (GO:0023057)	2.65	2	KIF7, RPGRIP1L
establishment of planar polarity (GO:0001736)	6.9	2	C5orf42, RPGRIP1L
heterocycle metabolic process (GO:0046483)	1.31	2	ZNF423, TMEM237
positive regulation of cell differentiation (GO:0045597)	3.01	2	AHI1, INPP5E
embryonic heart tube morphogenesis (GO:0003143)	5.57	2	ARL13B, AHI1
biological adhesion (GO:0022610)	2.81	2	CEP41, NPHP1
dorsal/ventral pattern formation (GO:0009953)	5.6	2	ARL13B, TCTN1
vesicle-mediated transport (GO:0016192)	2.72	2	EXOC8, AHI1
regulation of cell cycle (GO:0051726)	2.93	2	CSPP1, TMEM67
protein metabolic process (GO:0019538)	1.45	2	CEP41, TMEM67
response to stimulus (GO:0050896)	1.22	2	PDE6D, NPHP1
positive regulation of developmental process (GO:0051094)	2.77	2	AHI1, INPP5E
microtubule-based movement (GO:0007018)	4.39	2	OFD1, KIF7
cellular nitrogen compound metabolic process (GO:0034641)	1.22	2	ZNF423, TMEM237
left/right axis specification (GO:0070986)	7.16	2	ARL13B, AHI1
phosphate-containing compound metabolic process (GO:0006796)	2.16	2	INPP5E, TMEM237
regulation of nervous system development (GO:0051960)	3.1	2	INPP5E, MKS1
negative regulation of cell communication (GO:0010648)	2.66	2	KIF7, RPGRIP1L
regulation of organ morphogenesis (GO:2000027)	4.22	2	AHI1, MKS1
hindbrain development (GO:0030902)	6.73	2	AHI1, CEP290
phosphorus metabolic process (GO:0006793)	2.15	2	INPP5E, TMEM237
organophosphate metabolic process (GO:0019637)	3.04	2	INPP5E, TMEM237
microtubule cytoskeleton organization (GO:0000226)	4.13	2	CC2D2A, OFD1
organic substance biosynthetic process (GO:1901576)	1.34	2	ZNF423, INPP5E
camera-type eye development (GO:0043010)	5.36	2	CC2D2A, RPGRIP1L
(GO:1905330)	4.56	2	AHI1, MKS1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
telencephalon development (GO:0021537)	-	6.4	0.014	AHI1, TCTN1, CEP290
regulation of smoothened signaling pathway (GO:0008589)	-	5.62	0.0	CEP290, AHI1, TCTN1, RPGRIP1L, NPHP1, KIF7
cellular component assembly (GO:0022607)	-	2.14	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, OFD1, TMEM67, MKS1, TMEM138, ARL13B, CC2D2A, CEP41
neural tube patterning (GO:0021532)	-	7.94	0.0	ARL13B, RPGRIP1L, NPHP1
dorsal/ventral neural tube patterning (GO:0021904)	NEW	7.09	0.008	CEP290, TCTN1, TCTN2
cell projection organization (GO:0030030)	-	3.14	0.0	TMEM216, CEP290, TMEM138, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, TMEM67, KIAA0586, RPGRIP1L, NPHP1, EXOC8, CC2D2A, ARL13B, CEP41, PDE6D
cell projection assembly (GO:0030031)	-	4.19	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, PDE6D, TMEM67, OFD1, MKS1, TMEM138, NPHP1, ARL13B, CC2D2A, CEP41
cellular component assembly involved in morphogenesis (GO:0010927)	-	4.29	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, PDE6D, TMEM67, OFD1, MKS1, TMEM138, NPHP1, ARL13B, CC2D2A, CEP41
somatic motor neuron differentiation (GO:0021523)	NEW	8.63	0.02	CEP290, TCTN1
anatomical structure morphogenesis (GO:0009653)	-	2.53	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TCTN3, AHI1, TCTN1, OFD1, TMEM67, MKS1, RPGRIP1L, ARL13B, CC2D2A
cellular component organization or biogenesis (GO:0071840)	-	1.22	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, TMEM67, RPGRIP1L, MKS1, CEP41, NPHP1, ARL13B, CC2D2A, EXOC8, TMEM138
cellular developmental process (GO:0048869)	-	1.82	0.0	TMEM216, CEP290, ZNF423, TCTN2, KIAA0586, TCTN3, AHI1, TCTN1, OFD1, TMEM67, MKS1, NPHP1, ARL13B, CC2D2A
cellular component organization (GO:0016043)	-	1.24	0.0	TMEM216, CEP290, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, TMEM67, RPGRIP1L, KIAA0586, CEP41, NPHP1, ARL13B, CC2D2A, TMEM138, EXOC8
cellular component morphogenesis (GO:0032989)	-	3.5	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TCTN3, AHI1, TCTN1, PDE6D, TMEM67, OFD1, MKS1, NPHP1, ARL13B, CC2D2A
nose development (GO:0043584)	NEW	8.12	0.02	NPHP1, RPGRIP1L
corpus callosum development (GO:0022038)	NEW	7.78	0.034	NPHP1, RPGRIP1L
anatomical structure formation involved in morphogenesis (GO:0048646)	-	3.01	0.0	TMEM216, CEP290, MKS1, TCTN2, TMEM237, TMEM231, AHI1, TCTN1, PDE6D, TMEM67, RPGRIP1L, OFD1, KIAA0586, CEP41, NPHP1, ARL13B, CC2D2A, TMEM138, EXOC8
developmental process (GO:0032502)	-	1.36	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, ZNF423, TMEM67, RPGRIP1L, OFD1, MKS1, CEP41, NPHP1, KIF7, ARL13B, CC2D2A, TMEM138
spinal cord motor neuron differentiation (GO:0021522)	NEW	6.51	0.05	AHI1, TCTN1, TCTN2
cilium assembly (GO:0042384)	-	4.77	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, RPGRIP1L, PDE6D, TMEM67, MKS1, TMEM138, NPHP1, ARL13B, CC2D2A, CEP41
cilium morphogenesis (GO:0060271)	-	5.54	0.0	TMEM216, CEP290, MKS1, TCTN2, TCTN3, AHI1, TCTN1, OFD1, TMEM67, KIAA0586, NPHP1, CC2D2A
single-organism developmental process (GO:0044767)	-	1.49	0.0	TMEM216, CEP290, ZNF423, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, TMEM67, RPGRIP1L, KIAA0586, CEP41, NPHP1, ARL13B, CC2D2A, TMEM138
single-organism cellular process (GO:0044763)	-	0.65	0.018	TMEM216, KIAA0586, INPP5E, KIF7, MKS1, TCTN2, TCTN1, OFD1, TMEM67, ZNF423, CC2D2A, TMEM237, RPGRIP1L, NPHP1, ARL13B, CEP290, TCTN3, AHI1, TMEM231, TMEM138, EXOC8, CEP41
organelle assembly (GO:0070925)	-	3.75	0.0	TMEM216, CEP290, MKS1, TCTN2, TMEM237, TMEM231, AHI1, RPGRIP1L, PDE6D, TMEM67, KIAA0586, TMEM138, NPHP1, ARL13B, CC2D2A, CEP41, EXOC8
cell part morphogenesis (GO:0032990)	-	3.99	0.0	TMEM216, CEP290, MKS1, TCTN2, TCTN3, AHI1, TCTN1, OFD1, TMEM67, KIAA0586, NPHP1, CC2D2A
cell projection morphogenesis (GO:0048858)	-	4.05	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TCTN3, AHI1, TCTN1, OFD1, TMEM67, MKS1, NPHP1, CC2D2A
smoothened signaling pathway (GO:0007224)	-	5.45	0.0	CEP290, KIAA0586, TCTN2, TCTN3, TMEM231, ARL13B, CC2D2A, KIF7
microtubule-based movement (GO:0007018)	-	4.39	0.014	CEP290, AHI1, OFD1, NPHP1, PDE6D, KIF7
left/right axis specification (GO:0070986)	-	7.16	0.006	ARL13B, AHI1, NPHP1
photoreceptor cell outer segment organization (GO:0035845)	NEW	7.65	0.0	AHI1, CEP290, NPHP1
cilium organization (GO:0044782)	-	4.67	0.0	TMEM216, CEP290, MKS1, TCTN2, TMEM237, TMEM231, AHI1, RPGRIP1L, PDE6D, TMEM67, KIAA0586, TMEM138, NPHP1, ARL13B, CC2D2A, CEP41
camera-type eye development (GO:0043010)	-	5.36	0.048	CEP290, AHI1, NPHP1, RPGRIP1L

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
cell part (GO:0044464)	0.11	27	TMEM216, CSPP1, KIAA0586, PDE6D, CEP104, KIF7, MKS1, TCTN2, TCTN1, OFD1, TMEM67, ZNF423, CC2D2A, TMEM237, KIAA0556, RPGRIP1L, INPP5E, NPHP1, ARL13B, CEP290, C5orf42, TCTN3, AHI1, TMEM231, TMEM138, EXOC8, CEP41
organelle (GO:0043226)	0.4	26	TMEM216, CSPP1, KIAA0586, PDE6D, CEP104, KIF7, MKS1, TCTN2, TCTN1, OFD1, TMEM67, ZNF423, CC2D2A, TMEM237, KIAA0556, RPGRIP1L, INPP5E, NPHP1, ARL13B, CEP290, TCTN3, AHI1, TMEM231, TMEM138, EXOC8, CEP41
intracellular part (GO:0044424)	0.28	24	TMEM216, CSPP1, KIAA0586, PDE6D, CEP104, KIF7, MKS1, TCTN2, TCTN1, OFD1, TMEM67, ZNF423, CC2D2A, TMEM237, KIAA0556, RPGRIP1L, INPP5E, NPHP1, ARL13B, CEP290, AHI1, TMEM138, EXOC8, CEP41
organelle part (GO:0044422)	0.79	24	TMEM216, CSPP1, KIAA0586, PDE6D, CEP104, KIF7, MKS1, TCTN2, TCTN1, TMEM67, OFD1, CC2D2A, TMEM237, KIAA0556, RPGRIP1L, INPP5E, ARL13B, CEP290, C5orf42, TCTN3, AHI1, TMEM231, TMEM138, CEP41
cell projection (GO:0042995)	2.47	22	TMEM216, MKS1, PDE6D, CEP104, KIF7, TCTN2, TCTN1, TMEM67, OFD1, CC2D2A, TMEM237, KIAA0556, RPGRIP1L, INPP5E, NPHP1, ARL13B, CEP290, AHI1, TMEM231, TMEM138, EXOC8, CEP41
intracellular organelle (GO:0043229)	0.51	21	TMEM216, CEP290, KIAA0556, ZNF423, CEP104, TCTN2, KIAA0586, EXOC8, AHI1, TCTN1, CSPP1, INPP5E, RPGRIP1L, OFD1, MKS1, TMEM67, NPHP1, CC2D2A, CEP41, PDE6D, TMEM138
cell projection part (GO:0044463)	2.97	20	TMEM216, CEP290, RPGRIP1L, C5orf42, TCTN2, KIAA0586, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, INPP5E, CC2D2A, MKS1, TMEM67, ARL13B, CEP41, EXOC8, KIF7
cytoplasm (GO:0005737)	1.01	19	TMEM216, KIAA0556, CEP104, MKS1, TCTN2, AHI1, TCTN1, CEP290, INPP5E, RPGRIP1L, OFD1, KIAA0586, TMEM67, NPHP1, CSPP1, EXOC8, CC2D2A, CEP41, PDE6D
membrane (GO:0016020)	0.68	19	TMEM216, KIAA0556, C5orf42, TMEM138, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, PDE6D, TCTN1, CEP290, INPP5E, OFD1, TMEM67, NPHP1, ARL13B, EXOC8, CEP41
ciliary part (GO:0044441)	4.05	19	TMEM216, CEP290, C5orf42, MKS1, TCTN2, TMEM237, TCTN3, TMEM231, AHI1, TCTN1, OFD1, INPP5E, RPGRIP1L, KIAA0586, TMEM67, KIF7, ARL13B, CC2D2A, CEP41
cytoskeleton (GO:0005856)	2.55	18	TMEM216, CEP290, CSPP1, CEP104, MKS1, TCTN2, AHI1, TCTN1, KIAA0556, INPP5E, RPGRIP1L, OFD1, KIAA0586, TMEM67, NPHP1, CC2D2A, PDE6D, CEP41
non-membrane-bounded organelle (GO:0043228)	1.76	18	TMEM216, CEP290, CSPP1, CEP104, MKS1, TCTN2, AHI1, TCTN1, KIAA0556, INPP5E, RPGRIP1L, OFD1, KIAA0586, TMEM67, NPHP1, CC2D2A, PDE6D, CEP41
intracellular non-membrane-bounded organelle (GO:0043232)	1.76	18	TMEM216, CEP290, CSPP1, CEP104, MKS1, TCTN2, AHI1, TCTN1, KIAA0556, INPP5E, RPGRIP1L, OFD1, KIAA0586, TMEM67, NPHP1, CC2D2A, PDE6D, CEP41
cilium (GO:0005929)	3.89	18	TMEM216, CEP290, CEP104, TMEM138, MKS1, TMEM237, TMEM231, AHI1, RPGRIP1L, OFD1, INPP5E, PDE6D, CEP41, NPHP1, ARL13B, CC2D2A, KIF7, TMEM67
cytoplasmic part (GO:0044444)	0.82	17	TMEM216, CEP290, CEP104, MKS1, TMEM237, AHI1, TCTN1, OFD1, INPP5E, RPGRIP1L, PDE6D, TMEM138, NPHP1, EXOC8, CC2D2A, CEP41, TMEM67
intracellular organelle part (GO:0044446)	0.81	16	KIAA0556, CEP104, CEP41, MKS1, AHI1, RPGRIP1L, CEP290, INPP5E, OFD1, KIAA0586, TMEM138, CSPP1, ARL13B, PDE6D, KIF7, TMEM67
cytosol (GO:0005829)	1.68	13	TMEM216, CEP290, MKS1, AHI1, TCTN1, OFD1, INPP5E, PDE6D, RPGRIP1L, NPHP1, EXOC8, CC2D2A, CEP41
cytoskeletal part (GO:0044430)	2.49	13	CSPP1, CEP104, KIAA0586, MKS1, AHI1, RPGRIP1L, CEP290, INPP5E, OFD1, CEP41, ARL13B, KIF7, TMEM67
protein complex (GO:0043234)	1.51	12	TMEM216, CEP290, MKS1, TCTN2, TMEM231, AHI1, TCTN1, TMEM67, TMEM237, EXOC8, CC2D2A, KIF7
macromolecular complex (GO:0032991)	1.35	12	TMEM216, CEP290, MKS1, TCTN2, TMEM231, AHI1, TCTN1, TMEM67, TMEM237, EXOC8, CC2D2A, KIF7
membrane part (GO:0044425)	0.95	10	TMEM216, TMEM231, TCTN2, C5orf42, TCTN3, TMEM67, OFD1, TMEM237, ARL13B, TMEM138
microtubule organizing center (GO:0005815)	3.42	10	CEP290, KIAA0586, MKS1, AHI1, RPGRIP1L, CSPP1, TMEM67, OFD1, CEP104, CEP41
membrane-bounded organelle (GO:0043227)	0.47	10	KIAA0556, TCTN3, PDE6D, CEP290, INPP5E, OFD1, ZNF423, TMEM67, EXOC8, TMEM138
ciliary transition zone (GO:0035869)	6.62	10	TMEM216, CEP290, TMEM231, MKS1, C5orf42, TCTN1, TMEM67, RPGRIP1L, CC2D2A, TMEM237
centrosome (GO:0005813)	3.75	9	CEP290, KIAA0586, MKS1, AHI1, CSPP1, TMEM67, OFD1, RPGRIP1L, CEP41
integral component of membrane (GO:0016021)	1.14	9	TMEM216, TMEM231, TCTN2, C5orf42, TCTN3, TMEM67, OFD1, TMEM237, TMEM138
MKS complex (GO:0036038)	7.32	9	TMEM216, CEP290, MKS1, TCTN2, AHI1, TCTN1, TMEM67, TMEM231, CC2D2A
intrinsic component of membrane (GO:0031224)	1.13	9	TMEM216, TMEM231, TCTN2, C5orf42, TCTN3, TMEM67, OFD1, TMEM237, TMEM138
intracellular membrane-bounded organelle (GO:0043231)	0.6	8	CEP290, KIAA0556, INPP5E, OFD1, ZNF423, TMEM67, EXOC8, TMEM138
organelle membrane (GO:0031090)	1.97	8	TMEM231, TCTN2, TCTN3, PDE6D, INPP5E, TMEM67, ARL13B, TMEM138
bounding membrane of organelle (GO:0098588)	2.39	7	TMEM231, TCTN2, TCTN3, INPP5E, TMEM67, ARL13B, TMEM138
primary cilium (GO:0072372)	4.64	7	CEP290, AHI1, INPP5E, NPHP1, ARL13B, PDE6D, CEP41
plasma membrane (GO:0005886)	1.39	7	KIAA0556, TMEM231, INPP5E, TMEM67, EXOC8, ARL13B, CEP41
ciliary basal body (GO:0036064)	5.36	6	MKS1, KIAA0586, AHI1, RPGRIP1L, OFD1, CEP41
microtubule organizing center part (GO:0044450)	4.8	6	CEP290, MKS1, AHI1, CEP104, OFD1, CEP41
centriole (GO:0005814)	5.15	6	CEP290, MKS1, AHI1, CEP104, OFD1, CEP41
ciliary membrane (GO:0060170)	5.43	5	TCTN3, ARL13B, TMEM231, TCTN2, TMEM67
plasma membrane region (GO:0098590)	2.97	5	TCTN3, TMEM231, ARL13B, TCTN2, TMEM67
cell projection membrane (GO:0031253)	4.11	5	TCTN3, ARL13B, TMEM231, TCTN2, TMEM67
plasma membrane part (GO:0044459)	1.95	5	TCTN3, ARL13B, TMEM231, TCTN2, TMEM67
nucleus (GO:0005634)	1.07	4	CEP290, OFD1, KIAA0556, ZNF423
cell-cell junction (GO:0005911)	3.85	4	AHI1, CEP41, NPHP1, RPGRIP1L
cell junction (GO:0030054)	2.75	4	AHI1, CEP41, NPHP1, RPGRIP1L
nonmotile primary cilium (GO:0031513)	5.14	3	AHI1, CEP290, NPHP1
extracellular region part (GO:0044421)	1.57	3	TCTN3, KIAA0556, TCTN1
axoneme (GO:0005930)	5.53	3	ARL13B, INPP5E, RPGRIP1L
photoreceptor connecting cilium (GO:0032391)	6.28	2	CEP290, NPHP1
centriolar satellite (GO:0034451)	6.58	2	OFD1, CEP290
supramolecular fiber (GO:0099512)	3.31	2	CSPP1, KIF7
polymeric cytoskeletal fiber (GO:0099513)	3.31	2	CSPP1, KIF7
cytoplasmic vesicle membrane (GO:0030659)	3.67	2	PDE6D, TMEM67
motile cilium (GO:0031514)	5.36	2	ARL13B, NPHP1
extracellular space (GO:0005615)	2.63	2	KIAA0556, TCTN1
occluding junction (GO:0070160)	5.07	2	NPHP1, RPGRIP1L
anchoring junction (GO:0070161)	3.61	2	AHI1, NPHP1
spindle pole (GO:0000922)	5.08	2	CSPP1, CEP104
cytoplasmic vesicle part (GO:0044433)	3.41	2	PDE6D, TMEM67
vacuole (GO:0005773)	2.92	2	EXOC8, TMEM138
adherens junction (GO:0005912)	3.66	2	AHI1, NPHP1
vesicle membrane (GO:0012506)	3.63	2	PDE6D, TMEM67
microtubule (GO:0005874)	3.81	2	CSPP1, KIF7
bicellular tight junction (GO:0005923)	5.09	2	NPHP1, RPGRIP1L
vesicle (GO:0031982)	1.64	2	TCTN3, PDE6D

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
cytoskeleton (GO:0005856)	-	2.55	0.005	TMEM216, TCTN2, TCTN1, INPP5E, OFD1, NPHP1, CC2D2A
ciliary basal body (GO:0036064)	-	5.36	0.0	CEP290, MKS1, KIAA0586, AHI1, RPGRIP1L, OFD1, NPHP1, PDE6D, CEP41
TCTN-B9D complex (GO:0036038)	-	7.32	0.0	TMEM216, CEP290, MKS1, TCTN2, AHI1, TCTN1, TMEM67, TMEM231, CC2D2A
primary cilium (GO:0072372)	-	4.64	0.001	CEP290, AHI1, NPHP1, ARL13B, PDE6D, CEP41
non-membrane-bounded organelle (GO:0043228)	-	1.76	0.0	TMEM216, CSPP1, CEP104, MKS1, TCTN2, AHI1, TCTN1, CEP290, INPP5E, RPGRIP1L, OFD1, KIAA0586, TMEM67, NPHP1, CC2D2A, CEP41
intracellular non-membrane-bounded organelle (GO:0043232)	-	1.76	0.0	TMEM216, CSPP1, CEP104, MKS1, TCTN2, AHI1, TCTN1, CEP290, INPP5E, RPGRIP1L, OFD1, KIAA0586, TMEM67, NPHP1, CC2D2A, CEP41
ciliary transition zone (GO:0035869)	-	6.62	0.0	TMEM231, CC2D2A, NPHP1, TMEM237, AHI1
ciliary membrane (GO:0060170)	-	5.43	0.008	CEP290, AHI1, TMEM67, TMEM231, NPHP1, ARL13B, PDE6D
centrosome (GO:0005813)	-	3.75	0.0	CEP290, KIAA0586, MKS1, AHI1, CSPP1, TMEM67, OFD1, RPGRIP1L, NPHP1, PDE6D, CEP41
centriolar satellite (GO:0034451)	-	6.58	0.019	OFD1, CEP290
cell projection part (GO:0044463)	-	2.97	0.0	TMEM216, CEP290, TCTN2, KIAA0586, TMEM237, TMEM231, AHI1, TCTN1, PDE6D, INPP5E, RPGRIP1L, OFD1, MKS1, TMEM67, NPHP1, EXOC8, CC2D2A, ARL13B, CEP41
cell projection membrane (GO:0031253)	-	4.11	0.022	CEP290, AHI1, TMEM67, TMEM231, NPHP1, ARL13B, PDE6D
centriole (GO:0005814)	-	5.15	0.0	CEP290, MKS1, AHI1, CEP104, OFD1, PDE6D, CEP41
microtubule organizing center (GO:0005815)	-	3.42	0.0	CEP290, KIAA0586, MKS1, AHI1, CSPP1, TMEM67, OFD1, RPGRIP1L, NPHP1, PDE6D, CEP41
cytoskeletal part (GO:0044430)	-	2.49	0.006	CEP290, CEP104, KIAA0586, MKS1, AHI1, RPGRIP1L, CSPP1, INPP5E, OFD1, CEP41, NPHP1, EXOC8, PDE6D, KIF7, TMEM67
microtubule organizing center part (GO:0044450)	-	4.8	0.0	CEP290, MKS1, AHI1, CEP104, OFD1, PDE6D, CEP41
cilium (GO:0005929)	-	3.89	0.0	TMEM216, CEP290, AHI1, RPGRIP1L, OFD1, TMEM138, NPHP1, KIF7, ARL13B, PDE6D, CEP41
nonmotile primary cilium (GO:0031513)	-	5.14	0.011	CEP290, AHI1, PDE6D, NPHP1
cell projection (GO:0042995)	-	2.47	0.0	TMEM216, CEP290, AHI1, RPGRIP1L, OFD1, TMEM138, NPHP1, KIF7, ARL13B, CEP41
organelle part (GO:0044422)	-	0.79	0.0	TMEM216, CSPP1, KIAA0586, PDE6D, CEP104, KIF7, MKS1, TCTN2, TCTN1, TMEM67, OFD1, CC2D2A, TMEM237, RPGRIP1L, INPP5E, NPHP1, ARL13B, CEP290, AHI1, TMEM231, TMEM138, CEP41
ciliary part (GO:0044441)	-	4.05	0.0	TMEM216, CEP290, MKS1, TCTN2, TMEM237, TMEM231, AHI1, TCTN1, PDE6D, INPP5E, RPGRIP1L, OFD1, KIAA0586, TMEM67, NPHP1, ARL13B, CC2D2A, CEP41