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Top 5 genes

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Data summary

Publications : 991
Phenotypes : 178
Genes : 207
Mutations : 4583
SNVs : 3411
InDels : 1172
Last Update : 05/11/2017

Gene ontology analysis

Click here to see GO map

Biological process

GO term accession	GO term name	Number of reference genes	Number of genes	Expected number	Ratio of entrichment	P-Value	Adjusted P-Value
GO:0050953	sensory perception of light stimulus	205	100	2.55	39.21	8.72e-146	1.02e-142
CACNA1F\|RP1L1\|OPN1LW\|IMPG1\|PRCD\|MYO7A\|CLRN1\|BBS10\|RS1\|BBS7\|COL11A1\|RBP3\|OAT\|CNGA3\|HMCN1\|TULP1\|NR2E3\|EYS\|SAG\|RIMS1\| BBS1\|ABCC6\|PDE6A\|PDE6H\|COL2A1\|BEST1\|GPR98\|CNNM4\|CDH3\|RHO\|RGS9BP\|NRL\|RP2\|USH1G\|FSCN2\|RGR\|MAK\|BBS5\|CABP4\|ROM1\| TRPM1\|CNGB3\|CDHR1\|NYX\|ARL6\|RBP4\|GRM6\|PDE6G\|SLC24A1\|RPE65\|WFS1\|RDH5\|OPA3\|PDE6B\|RD3\|GRK1\|USH1C\|USH2A\|RP1\|PAX2\| BBS4\|IMPG2\|PCDH15\|RLBP1\|ZNF513\|CYP4V2\|GPR179\|OPA1\|BBS9\|PRPH2\|GUCA1B\|EFEMP1\|UNC119\|PDE6C\|CHM\|GUCY2D\|AIPL1\|RAX2\|CNGA1\|GUCA1A\| ABCA4\|RPGR\|GNAT2\|IQCB1\|CDH23\|RPGRIP1\|NPHP3\|MKKS\|BBS2\|DFNB31\|LRAT\|SPATA7\|RGS9\|PROM1\|TIMP3\|NDP\|CRX\|C2orf71\|RDH12\|FAM161A \|
GO:0007601	visual perception	204	99	2.54	39.01	7.39e-144	4.34e-141
CACNA1F\|RP1L1\|OPN1LW\|IMPG1\|PRCD\|MYO7A\|CLRN1\|BBS10\|RS1\|BBS7\|COL11A1\|RBP3\|OAT\|CNGA3\|HMCN1\|TULP1\|NR2E3\|EYS\|SAG\|RIMS1\| BBS1\|ABCC6\|PDE6A\|PDE6H\|COL2A1\|BEST1\|GPR98\|CNNM4\|CDH3\|RHO\|RGS9BP\|NRL\|RP2\|USH1G\|FSCN2\|RGR\|MAK\|BBS5\|CABP4\|ROM1\| TRPM1\|CNGB3\|CDHR1\|NYX\|ARL6\|RBP4\|GRM6\|PDE6G\|SLC24A1\|RPE65\|WFS1\|RDH5\|OPA3\|PDE6B\|RD3\|GRK1\|USH1C\|USH2A\|RP1\|PAX2\| BBS4\|IMPG2\|PCDH15\|RLBP1\|ZNF513\|CYP4V2\|GPR179\|OPA1\|BBS9\|PRPH2\|GUCA1B\|EFEMP1\|UNC119\|PDE6C\|CHM\|GUCY2D\|AIPL1\|RAX2\|CNGA1\|GUCA1A\| ABCA4\|RPGR\|GNAT2\|IQCB1\|CDH23\|RPGRIP1\|NPHP3\|MKKS\|BBS2\|LRAT\|SPATA7\|RGS9\|PROM1\|TIMP3\|NDP\|CRX\|C2orf71\|RDH12\|FAM161A \|
GO:0007600	sensory perception	495	103	6.16	16.73	4.54e-105	1.78e-102
CACNA1F\|RP1L1\|OPN1LW\|IMPG1\|PRCD\|MYO7A\|CLRN1\|BBS10\|RS1\|BBS7\|COL11A1\|RBP3\|OAT\|CNGA3\|HMCN1\|TULP1\|NR2E3\|EYS\|SAG\|RIMS1\| BBS1\|ABCC6\|PDE6A\|PDE6H\|COL2A1\|BEST1\|GPR98\|CNNM4\|CDH3\|RHO\|RGS9BP\|NRL\|RP2\|USH1G\|FSCN2\|RGR\|FZD4\|MAK\|BBS5\|CABP4\| ROM1\|TRPM1\|CNGB3\|CDHR1\|NYX\|ARL6\|RBP4\|GRM6\|PDE6G\|SLC24A1\|RPE65\|WFS1\|RDH5\|OPA3\|PDE6B\|RD3\|GRK1\|ALMS1\|TTC8\|USH1C\| USH2A\|RP1\|PAX2\|BBS4\|IMPG2\|PCDH15\|RLBP1\|ZNF513\|CYP4V2\|GPR179\|OPA1\|BBS9\|PRPH2\|GUCA1B\|EFEMP1\|UNC119\|PDE6C\|CHM\|GUCY2D\|AIPL1\| RAX2\|CNGA1\|GUCA1A\|ABCA4\|RPGR\|GNAT2\|IQCB1\|CDH23\|RPGRIP1\|NPHP3\|MKKS\|BBS2\|DFNB31\|LRAT\|SPATA7\|RGS9\|PROM1\|TIMP3\|NDP\|CRX\| C2orf71\|RDH12\|FAM161A \|
GO:0050877	neurological system process	1237	106	15.39	6.89	1.82e-66	5.34e-64
CACNA1F\|RP1L1\|OPN1LW\|IMPG1\|PRCD\|MYO7A\|CLRN1\|BBS10\|RS1\|BBS7\|COL11A1\|RBP3\|OAT\|CNGA3\|HMCN1\|TULP1\|NR2E3\|EYS\|SAG\|RIMS1\| BBS1\|ABCC6\|PDE6A\|PDE6H\|COL2A1\|BEST1\|GPR98\|CNNM4\|CDH3\|RHO\|RGS9BP\|NRL\|RP2\|USH1G\|FSCN2\|RGR\|FZD4\|MAK\|BBS5\|CABP4\| ROM1\|TRPM1\|CNGB3\|CDHR1\|NYX\|ARL6\|RBP4\|GRM6\|PDE6G\|SLC24A1\|RPE65\|WFS1\|RDH5\|OPA3\|PDE6B\|RD3\|CLN3\|GRK1\|ALMS1\|TTC8\| USH1C\|DMD\|USH2A\|RP1\|PAX2\|BBS4\|IMPG2\|PCDH15\|RLBP1\|ZNF513\|CYP4V2\|GPR179\|OPA1\|BBS9\|PRPH2\|GUCA1B\|EFEMP1\|UNC119\|PDE6C\|CHM\| GUCY2D\|AIPL1\|RAX2\|CNGA1\|GUCA1A\|ABCA4\|RPGR\|GNAT2\|IQCB1\|CDH23\|RPGRIP1\|NPHP3\|MKKS\|BBS2\|DFNB31\|LRAT\|SPATA7\|RGS9\|PROM1\|TIMP3\| NDP\|CRX\|KCNV2\|C2orf71\|RDH12\|FAM161A \|
GO:0003008	system process	1695	108	21.09	5.12	1.12e-54	2.63e-52
CACNA1F\|RP1L1\|OPN1LW\|IMPG1\|PRCD\|MYO7A\|CLRN1\|BBS10\|RS1\|BBS7\|COL11A1\|RBP3\|OAT\|CNGA3\|HMCN1\|TULP1\|NR2E3\|EYS\|SAG\|RIMS1\| BBS1\|ABCC6\|PDE6A\|PDE6H\|COL2A1\|BEST1\|GPR98\|CNNM4\|CDH3\|RHO\|RGS9BP\|NRL\|RP2\|USH1G\|FSCN2\|RGR\|FZD4\|MAK\|BBS5\|CABP4\| ROM1\|LRP5\|TRPM1\|CNGB3\|CDHR1\|NYX\|ARL6\|RBP4\|GRM6\|PDE6G\|SLC24A1\|RPE65\|WFS1\|RDH5\|OPA3\|PDE6B\|RD3\|CLN3\|GRK1\|ALMS1\| TTC8\|USH1C\|DMD\|USH2A\|RP1\|PAX2\|BBS4\|IMPG2\|PCDH15\|RLBP1\|ZNF513\|CYP4V2\|GPR179\|OPA1\|BBS9\|PRPH2\|GUCA1B\|EFEMP1\|UNC119\|PDE6C\| CHM\|GUCY2D\|AIPL1\|RAX2\|CNGA1\|GUCA1A\|ABCA4\|RPGR\|GNAT2\|IQCB1\|CDH23\|RPGRIP1\|NPHP3\|MKKS\|BBS2\|DFNB31\|LRAT\|SPATA7\|RGS9\|PROM1\| TIMP3\|NDP\|CRX\|KCNV2\|C2orf71\|RDH12\|NPHP1\|FAM161A \|
GO:0045494	photoreceptor cell maintenance	25	22	0.31	70.74	7.36e-40	1.44e-37
USH1G\|USH1C\|RP1L1\|USH2A\|RP1\|IQCB1\|MAK\|CDH23\|PCDH15\|BBS4\|CLRN1\|BBS10\|MKKS\|NPHP3\|BBS2\|CDHR1\|TULP1\|PROM1\|BBS1\|GPR98\| RDH12\|ABCA4 \|
GO:0060041	retina development in camera-type eye	105	31	1.31	23.73	1.13e-34	1.90e-32
CACNA1F\|GNAT2\|NPHP4\|RP1\|FZD4\|RPGRIP1\|CABP4\|PAX2\|ZNF513\|RS1\|TOPORS\|LRP5\|CNGA3\|MERTK\|PRPH2\|TULP1\|RBP4\|GRM6\|PDE6C\|PROM1\| AHI1\|NDP\|CEP290\|CRX\|PDE6A\|RHO\|TSPAN12\|PDE6B\|RD3\|GRK1\|NPHP1 \|
GO:0009583	detection of light stimulus	47	24	0.58	41.05	4.99e-34	7.32e-32
CACNA1F\|GNAT2\|OPN1LW\|RGR\|ELOVL4\|RP1\|CABP4\|RS1\|TULP1\|NR2E3\|GUCA1B\|RBP4\|UNC119\|GRM6\|PDE6C\|SAG\|BEST1\|AIPL1\|RHO\|RGS9BP\| PDE6B\|GUCA1A\|GRK1\|ABCA4 \|
GO:0043954	cellular component maintenance	38	22	0.47	46.54	6.20e-33	8.09e-31
USH1G\|USH1C\|RP1L1\|USH2A\|RP1\|IQCB1\|MAK\|CDH23\|PCDH15\|BBS4\|CLRN1\|BBS10\|MKKS\|NPHP3\|BBS2\|CDHR1\|TULP1\|PROM1\|BBS1\|GPR98\| RDH12\|ABCA4 \|
GO:0007423	sensory organ development	436	48	5.42	8.85	3.27e-32	3.84e-30
CACNA1F\|USH1C\|NPHP4\|USH2A\|RP1\|BBS4\|PAX2\|ZNF513\|MYO7A\|RS1\|COL11A1\|CNGA3\|MERTK\|PRPH2\|OTX2\|RPGRIP1L\|TULP1\|PDE6C\|JAG1\|AHI1\| CEP290\|PDE6A\|COL2A1\|GPR98\|RHO\|TSPAN12\|NRL\|CRB1\|GNAT2\|USH1G\|FZD4\|CDH23\|RPGRIP1\|CABP4\|TOPORS\|LRP5\|DFNB31\|MFN2\|RBP4\|GRM6\| PROM1\|NDP\|CRX\|PDE6B\|RD3\|GRK1\|ALMS1\|NPHP1 \|
GO:0009582	detection of abiotic stimulus	83	27	1.03	26.15	1.40e-31	1.49e-29
CACNA1F\|GNAT2\|OPN1LW\|RGR\|ELOVL4\|RP1\|CABP4\|RS1\|COL11A1\|MKKS\|TULP1\|NR2E3\|GUCA1B\|RBP4\|UNC119\|GRM6\|SAG\|PDE6C\|BEST1\|AIPL1\| GPR98\|RHO\|RGS9BP\|PDE6B\|GUCA1A\|GRK1\|ABCA4 \|
GO:0001654	eye development	276	39	3.43	11.36	3.01e-30	2.94e-28
CACNA1F\|NPHP4\|RP1\|BBS4\|PAX2\|ZNF513\|MYO7A\|RS1\|CNGA3\|MERTK\|PRPH2\|OTX2\|RPGRIP1L\|TULP1\|PDE6C\|AHI1\|CEP290\|PDE6A\|RHO\|TSPAN12\| NRL\|CRB1\|GNAT2\|FZD4\|RPGRIP1\|CABP4\|LRP5\|TOPORS\|MFN2\|RBP4\|GRM6\|PROM1\|NDP\|CRX\|RD3\|PDE6B\|ALMS1\|GRK1\|NPHP1 \|
GO:0009581	detection of external stimulus	100	27	1.24	21.70	4.42e-29	3.99e-27
CACNA1F\|GNAT2\|OPN1LW\|RGR\|ELOVL4\|RP1\|CABP4\|RS1\|COL11A1\|MKKS\|TULP1\|NR2E3\|GUCA1B\|RBP4\|UNC119\|GRM6\|SAG\|PDE6C\|BEST1\|AIPL1\| GPR98\|RHO\|RGS9BP\|PDE6B\|GUCA1A\|GRK1\|ABCA4 \|
GO:0044707	single-multicellular organism process	5612	143	69.81	2.05	9.21e-29	7.72e-27
NPHP4\|RP1L1\|OPN1LW\|IMPG1\|PRCD\|MKS1\|CLRN1\|BBS10\|RS1\|CNGA3\|OAT\|MFRP\|HMCN1\|INVS\|EYS\|INPP5E\|RIMS1\|BBS1\|ABCC6\|PDE6A\| BEST1\|COL2A1\|RHO\|RP2\|CRB1\|MAK\|BBS5\|CAPN5\|TOPORS\|LRP5\|ITM2B\|FLVCR1\|RBP4\|PDE6G\|SLC24A1\|RPE65\|RDH5\|ADAM9\|OPA3\|CLN3\| ALMS1\|USH1C\|PAX2\|BBS4\|IMPG2\|PCDH15\|CYP4V2\|GPR179\|BBS9\|MERTK\|GUCA1B\|EFEMP1\|RB1\|PDE6C\|GUCY2D\|CEP290\|TSPAN12\|CNGA1\|COL9A1\|GUCA1A\| ABCA4\|GNAT2\|IQCB1\|CDH23\|MKKS\|NPHP3\|SPATA7\|KCNV2\|CRX\|TIMM8A\|SEMA4A\|VCAN\|SDCCAG8\|OFD1\|FAM161A\|CACNA1F\|MYO7A\|COL11A1\|BBS7\|RBP3\| TULP1\|RPGRIP1L\|NR2E3\|SAG\|JAG1\|AHI1\|PDE6H\|GPR98\|CDH3\|CNNM4\|RGS9BP\|NRL\|FSCN2\|USH1G\|RGR\|FZD4\|WDPCP\|CABP4\|ROM1\|TRPM1\| CNGB3\|CDHR1\|NYX\|ARL6\|GRM6\|WFS1\|PEX2\|TRIM32\|RD3\|PDE6B\|GRK1\|TTC8\|DMD\|RP1\|USH2A\|CA4\|ZNF513\|RLBP1\|OPA1\|PRPH2\| OTX2\|UNC119\|PEX7\|CHM\|AIPL1\|RAX2\|ZNF423\|TTPA\|RPGR\|RPGRIP1\|TMEM126A\|BBS2\|KIF11\|DFNB31\|LRAT\|MFN2\|RGS9\|PROM1\|TIMP3\|NDP\|C2orf71\|RDH12\|NPHP1 \|
GO:0032501	multicellular organismal process	5644	143	70.21	2.04	1.83e-28	1.43e-26
NPHP4\|RP1L1\|OPN1LW\|IMPG1\|PRCD\|MKS1\|CLRN1\|BBS10\|RS1\|CNGA3\|OAT\|MFRP\|HMCN1\|INVS\|EYS\|INPP5E\|RIMS1\|BBS1\|ABCC6\|PDE6A\| BEST1\|COL2A1\|RHO\|RP2\|CRB1\|MAK\|BBS5\|CAPN5\|TOPORS\|LRP5\|ITM2B\|FLVCR1\|RBP4\|PDE6G\|SLC24A1\|RPE65\|RDH5\|ADAM9\|OPA3\|CLN3\| ALMS1\|USH1C\|PAX2\|BBS4\|IMPG2\|PCDH15\|CYP4V2\|GPR179\|BBS9\|MERTK\|GUCA1B\|EFEMP1\|RB1\|PDE6C\|GUCY2D\|CEP290\|TSPAN12\|CNGA1\|COL9A1\|GUCA1A\| ABCA4\|GNAT2\|IQCB1\|CDH23\|MKKS\|NPHP3\|SPATA7\|KCNV2\|CRX\|TIMM8A\|SEMA4A\|VCAN\|SDCCAG8\|OFD1\|FAM161A\|CACNA1F\|MYO7A\|COL11A1\|BBS7\|RBP3\| TULP1\|RPGRIP1L\|NR2E3\|SAG\|JAG1\|AHI1\|PDE6H\|GPR98\|CDH3\|CNNM4\|RGS9BP\|NRL\|FSCN2\|USH1G\|RGR\|FZD4\|WDPCP\|CABP4\|ROM1\|TRPM1\| CNGB3\|CDHR1\|NYX\|ARL6\|GRM6\|WFS1\|PEX2\|TRIM32\|RD3\|PDE6B\|GRK1\|TTC8\|DMD\|RP1\|USH2A\|CA4\|ZNF513\|RLBP1\|OPA1\|PRPH2\| OTX2\|UNC119\|PEX7\|CHM\|AIPL1\|RAX2\|ZNF423\|TTPA\|RPGR\|RPGRIP1\|TMEM126A\|BBS2\|KIF11\|DFNB31\|LRAT\|MFN2\|RGS9\|PROM1\|TIMP3\|NDP\|C2orf71\|RDH12\|NPHP1 \|
GO:0046530	photoreceptor cell differentiation	41	20	0.51	39.21	5.82e-28	4.27e-26
CRB1\|GNAT2\|RP1L1\|RP1\|RPGRIP1\|CABP4\|BBS4\|MYO7A\|TOPORS\|CNGA3\|OTX2\|TULP1\|PDE6C\|PROM1\|AHI1\|CEP290\|NRL\|ALMS1\|GRK1\|NPHP1 \|
GO:0042461	photoreceptor cell development	30	18	0.37	48.23	1.64e-27	1.13e-25
CRB1\|GNAT2\|RP1L1\|RP1\|RPGRIP1\|CABP4\|BBS4\|MYO7A\|TOPORS\|CNGA3\|TULP1\|PDE6C\|AHI1\|CEP290\|NRL\|ALMS1\|GRK1\|NPHP1 \|
GO:0009584	detection of visible light	22	16	0.27	58.46	1.18e-26	7.70e-25
RBP4\|GRM6\|SAG\|CACNA1F\|GNAT2\|PDE6C\|ELOVL4\|RP1\|BEST1\|AIPL1\|RHO\|RGS9BP\|RS1\|PDE6B\|GRK1\|ABCA4 \|
GO:0060271	cilium morphogenesis	97	25	1.21	20.72	2.04e-26	1.26e-24
TTC8\|IQCB1\|BBS5\|CC2D2A\|WDPCP\|BBS4\|MKS1\|BBS10\|BBS7\|MKKS\|NPHP3\|BBS2\|RPGRIP1L\|ARL6\|CEP164\|TMEM237\|BBS1\|AHI1\|CEP290\|OFD1\| IFT140\|BBIP1\|ALMS1\|RPGR\|FAM161A \|
GO:0043010	camera-type eye development	237	33	2.95	11.19	2.13e-25	1.25e-23
CACNA1F\|NPHP4\|RP1\|PAX2\|ZNF513\|RS1\|CNGA3\|MERTK\|PRPH2\|RPGRIP1L\|TULP1\|PDE6C\|AHI1\|CEP290\|PDE6A\|RHO\|TSPAN12\|GNAT2\|FZD4\|CABP4\| RPGRIP1\|LRP5\|TOPORS\|MFN2\|RBP4\|GRM6\|PROM1\|CRX\|NDP\|RD3\|PDE6B\|GRK1\|NPHP1 \|
GO:0007602	phototransduction	37	18	0.46	39.11	3.11e-25	1.74e-23
GNAT2\|OPN1LW\|RGR\|RP1\|CABP4\|RS1\|TULP1\|NR2E3\|GUCA1B\|PDE6C\|SAG\|UNC119\|AIPL1\|RHO\|GUCA1A\|PDE6B\|ABCA4\|GRK1 \|
GO:0042384	cilium assembly	75	21	0.93	22.51	3.56e-23	1.90e-21
TTC8\|IQCB1\|BBS5\|CC2D2A\|BBS4\|MKS1\|BBS10\|MKKS\|RPGRIP1L\|ARL6\|CEP164\|TMEM237\|BBS1\|AHI1\|CEP290\|OFD1\|IFT140\|BBIP1\|ALMS1\|RPGR\| FAM161A \|
GO:0009416	response to light stimulus	203	29	2.53	11.48	1.06e-22	5.41e-21
CACNA1F\|GNAT2\|NPHP4\|OPN1LW\|RGR\|ELOVL4\|RP1\|CABP4\|RS1\|TRPM1\|TULP1\|NR2E3\|GUCA1B\|RBP4\|UNC119\|GRM6\|SAG\|PDE6C\|SLC24A1\|BEST1\| AIPL1\|RHO\|RGS9BP\|TRIM32\|PDE6B\|GUCA1A\|GRK1\|ABCA4\|NPHP1 \|
GO:0001754	eye photoreceptor cell differentiation	34	16	0.42	37.83	3.06e-22	1.50e-20
CRB1\|GNAT2\|PDE6C\|PROM1\|RP1\|CEP290\|RPGRIP1\|CABP4\|BBS4\|MYO7A\|TOPORS\|NRL\|CNGA3\|ALMS1\|OTX2\|TULP1 \|
GO:0048592	eye morphogenesis	126	24	1.57	15.31	5.38e-22	2.53e-20
CRB1\|GNAT2\|RP1\|RPGRIP1\|CABP4\|BBS4\|PAX2\|MYO7A\|RS1\|TOPORS\|LRP5\|CNGA3\|OTX2\|TULP1\|MFN2\|RBP4\|PDE6C\|PROM1\|AHI1\|CEP290\| TSPAN12\|NRL\|GRK1\|ALMS1 \|
GO:0042462	eye photoreceptor cell development	25	14	0.31	45.02	5.07e-21	2.29e-19
CRB1\|GNAT2\|PDE6C\|RP1\|CEP290\|RPGRIP1\|CABP4\|BBS4\|MYO7A\|TOPORS\|NRL\|CNGA3\|ALMS1\|TULP1 \|
GO:0051606	detection of stimulus	202	27	2.51	10.74	2.10e-20	9.13e-19
CACNA1F\|GNAT2\|OPN1LW\|RGR\|ELOVL4\|RP1\|CABP4\|RS1\|COL11A1\|MKKS\|TULP1\|NR2E3\|GUCA1B\|RBP4\|UNC119\|GRM6\|SAG\|PDE6C\|BEST1\|AIPL1\| GPR98\|RHO\|RGS9BP\|PDE6B\|GUCA1A\|GRK1\|ABCA4 \|
GO:0044699	single-organism process	7682	152	95.57	1.59	9.26e-19	3.88e-17
NPHP4\|RP1L1\|OPN1LW\|CC2D2A\|IMPG1\|PRCD\|ARL2BP\|MKS1\|CLRN1\|BBS10\|RS1\|CNGA3\|OAT\|MFRP\|HMCN1\|INVS\|EYS\|INPP5E\|BBS1\|RIMS1\| ABCC6\|PDE6A\|BEST1\|COL2A1\|RHO\|RP2\|CRB1\|MAK\|BBS5\|CAPN5\|TOPORS\|LRP5\|FLVCR1\|ITM2B\|RBP4\|PDE6G\|SLC24A1\|RPE65\|RDH5\|ADAM9\| OPA3\|GPR125\|CLN3\|ALMS1\|USH1C\|PAX2\|BBS4\|IMPG2\|PCDH15\|CYP4V2\|GPR179\|BBS9\|MERTK\|GUCA1B\|EFEMP1\|RB1\|PDE6C\|GUCY2D\|CEP290\|NEK2\| TSPAN12\|CNGA1\|COL9A1\|GUCA1A\|ABCA4\|GNAT2\|IQCB1\|CDH23\|RAB28\|MKKS\|NPHP3\|SPATA7\|KCNV2\|CRX\|TIMM8A\|SEMA4A\|VCAN\|SDCCAG8\|OFD1\|FAM161A\| CACNA1F\|CFH\|MYO7A\|COL11A1\|BBS7\|RBP3\|TULP1\|RPGRIP1L\|NR2E3\|SAG\|JAG1\|AHI1\|CERKL\|PDE6H\|GPR98\|CDH3\|CNNM4\|RGS9BP\|NRL\|FSCN2\| USH1G\|RGR\|FZD4\|WDPCP\|CABP4\|ROM1\|TRPM1\|CNGB3\|CDHR1\|NYX\|ARL6\|GRM6\|DTHD1\|WFS1\|PEX2\|TRIM32\|RD3\|PDE6B\|GRK1\|TTC8\| DMD\|RP1\|USH2A\|CA4\|ZNF513\|RLBP1\|OPA1\|PRPH2\|OTX2\|PEX7\|UNC119\|CHM\|AIPL1\|RAX2\|ZNF423\|TTPA\|RPGR\|RPGRIP1\|TMEM126A\|BBS2\|KIF11\|DFNB31\|LRAT\|MFN2\|RGS9\|PROM1\|TIMP3\|TMEM237\|NDP\|C2orf71\|RDH12\|NPHP1 \|
GO:0010927	cellular component assembly involved in morphogenesis	137	22	1.70	12.91	1.49e-18	6.03e-17
TTC8\|IQCB1\|BBS5\|CC2D2A\|BBS4\|MKS1\|BBS10\|MKKS\|BBS2\|RPGRIP1L\|ARL6\|CEP164\|TMEM237\|BBS1\|AHI1\|CEP290\|OFD1\|IFT140\|BBIP1\|ALMS1\| RPGR\|FAM161A \|
GO:0009314	response to radiation	319	29	3.97	7.31	3.46e-17	1.35e-15
CACNA1F\|GNAT2\|NPHP4\|OPN1LW\|RGR\|ELOVL4\|RP1\|CABP4\|RS1\|TRPM1\|TULP1\|NR2E3\|GUCA1B\|RBP4\|UNC119\|GRM6\|SAG\|PDE6C\|SLC24A1\|BEST1\| AIPL1\|RHO\|RGS9BP\|TRIM32\|PDE6B\|GUCA1A\|GRK1\|ABCA4\|NPHP1 \|
GO:0048646	anatomical structure formation involved in morphogenesis	1594	62	19.83	3.13	4.32e-17	1.64e-15
TTC8\|CACNA1F\|USH1C\|DMD\|RP1\|CC2D2A\|BBS4\|PAX2\|MYO7A\|MKS1\|BBS10\|RS1\|BBS7\|COL11A1\|OPA1\|CNGA3\|OTX2\|RPGRIP1L\|TULP1\|CEP164\| PEX7\|PDE6C\|JAG1\|AHI1\|BBS1\|CEP290\|COL2A1\|TSPAN12\|NRL\|COL9A1\|RPGR\|CRB1\|GNAT2\|USH1G\|FZD4\|IQCB1\|BBS5\|CDH23\|RPGRIP1\|CABP4\| WDPCP\|TOPORS\|LRP5\|NPHP3\|MKKS\|BBS2\|FLVCR1\|MFN2\|ARL6\|RBP4\|PROM1\|TMEM237\|SEMA4A\|VCAN\|SDCCAG8\|OFD1\|IFT140\|ADAM9\|BBIP1\|GRK1\| ALMS1\|FAM161A \|
GO:0030031	cell projection assembly	204	24	2.54	9.46	6.34e-17	2.33e-15
TTC8\|RP1\|IQCB1\|BBS5\|CC2D2A\|BBS4\|MKS1\|CLRN1\|BBS10\|MKKS\|BBS2\|RPGRIP1L\|ARL6\|CEP164\|TMEM237\|BBS1\|AHI1\|CEP290\|OFD1\|IFT140\| BBIP1\|ALMS1\|RPGR\|FAM161A \|
GO:0009653	anatomical structure morphogenesis	2055	70	25.56	2.74	1.99e-16	7.08e-15
CACNA1F\|CC2D2A\|MYO7A\|MKS1\|BBS10\|RS1\|BBS7\|COL11A1\|CNGA3\|RPGRIP1L\|TULP1\|JAG1\|AHI1\|BBS1\|COL2A1\|NRL\|RP2\|CRB1\|USH1G\|FSCN2\| FZD4\|BBS5\|CABP4\|WDPCP\|TOPORS\|LRP5\|FLVCR1\|ARL6\|RBP4\|IFT140\|ADAM9\|BBIP1\|GRK1\|ALMS1\|TTC8\|USH1C\|DMD\|RP1\|PAX2\|BBS4\| OPA1\|MERTK\|OTX2\|CEP164\|RB1\|PDE6C\|PEX7\|CEP290\|TSPAN12\|COL9A1\|RPGR\|GNAT2\|IQCB1\|C21orf2\|CDH23\|RPGRIP1\|MKKS\|NPHP3\|BBS2\|MFN2\| PROM1\|TIMP3\|TMEM237\|NDP\|SEMA4A\|CRX\|VCAN\|SDCCAG8\|OFD1\|FAM161A \|
GO:0030030	cell projection organization	934	46	11.62	3.96	2.85e-16	9.84e-15
TTC8\|CACNA1F\|RP1L1\|DMD\|RP1\|CC2D2A\|BBS4\|PAX2\|MYO7A\|MKS1\|CLRN1\|BBS10\|BBS7\|OTX2\|RPGRIP1L\|TULP1\|CEP164\|INPP5E\|RB1\|AHI1\| BBS1\|CEP290\|COL2A1\|GPR98\|COL9A1\|RPGR\|C21orf2\|IQCB1\|BBS5\|CDH23\|WDPCP\|NPHP3\|MKKS\|BBS2\|DFNB31\|ARL6\|TMEM237\|SEMA4A\|VCAN\|WDR19\| OFD1\|IFT140\|BBIP1\|ALMS1\|NPHP1\|FAM161A \|
GO:0060042	retina morphogenesis in camera-type eye	37	13	0.46	28.24	3.05e-16	1.02e-14
RBP4\|GNAT2\|PDE6C\|PROM1\|AHI1\|RP1\|CABP4\|RS1\|TOPORS\|LRP5\|TSPAN12\|CNGA3\|GRK1 \|
GO:0007603	phototransduction, visible light	11	9	0.14	65.77	3.15e-16	1.03e-14
SAG\|PDE6C\|RP1\|AIPL1\|RHO\|RS1\|PDE6B\|ABCA4\|GRK1 \|
GO:0048856	anatomical structure development	4030	102	50.13	2.03	4.19e-16	1.33e-14
CACNA1F\|NPHP4\|RP1L1\|CC2D2A\|MYO7A\|MKS1\|BBS10\|RS1\|BBS7\|COL11A1\|CNGA3\|MFRP\|INVS\|RPGRIP1L\|TULP1\|INPP5E\|JAG1\|AHI1\|BBS1\|PDE6A\| COL2A1\|GPR98\|CNNM4\|RHO\|NRL\|RP2\|CRB1\|USH1G\|FSCN2\|FZD4\|BBS5\|CABP4\|WDPCP\|CAPN5\|TOPORS\|LRP5\|ITM2B\|FLVCR1\|ARL6\|RBP4\| GRM6\|WFS1\|PEX2\|IFT140\|BBIP1\|ADAM9\|TRIM32\|PDE6B\|RD3\|GRK1\|ALMS1\|TTC8\|USH1C\|DMD\|USH2A\|RP1\|CA4\|PAX2\|BBS4\|ZNF513\| OPA1\|MERTK\|PRPH2\|OTX2\|EFEMP1\|CEP164\|PEX7\|RB1\|PDE6C\|CHM\|CEP290\|TSPAN12\|ZNF423\|COL9A1\|TTPA\|RPGR\|GNAT2\|C21orf2\|IQCB1\|CDH23\| RPGRIP1\|TMEM126A\|NPHP3\|MKKS\|BBS2\|KIF11\|DFNB31\|LRAT\|MFN2\|RGS9\|PROM1\|TIMP3\|TMEM237\|NDP\|SEMA4A\|TIMM8A\|CRX\|VCAN\|SDCCAG8\|OFD1\| NPHP1\|FAM161A \|
GO:0000902	cell morphogenesis	945	42	11.76	3.57	2.49e-13	7.69e-12
TTC8\|CACNA1F\|DMD\|CC2D2A\|BBS4\|PAX2\|MYO7A\|MKS1\|BBS10\|BBS7\|MERTK\|OTX2\|RPGRIP1L\|CEP164\|RB1\|AHI1\|BBS1\|CEP290\|COL2A1\|RP2\| COL9A1\|RPGR\|C21orf2\|IQCB1\|FZD4\|BBS5\|CDH23\|WDPCP\|CABP4\|NPHP3\|MKKS\|BBS2\|ARL6\|TMEM237\|SEMA4A\|VCAN\|OFD1\|IFT140\|BBIP1\|GRK1\| ALMS1\|FAM161A \|
GO:0048593	camera-type eye morphogenesis	90	15	1.12	13.40	3.00e-13	9.03e-12
RBP4\|GNAT2\|PDE6C\|PROM1\|AHI1\|RP1\|CABP4\|PAX2\|RS1\|TOPORS\|LRP5\|TSPAN12\|CNGA3\|GRK1\|MFN2 \|
GO:0032502	developmental process	4572	104	56.88	1.83	3.53e-13	1.04e-11
CACNA1F\|NPHP4\|RP1L1\|CC2D2A\|MYO7A\|MKS1\|BBS10\|RS1\|BBS7\|COL11A1\|CNGA3\|MFRP\|INVS\|RPGRIP1L\|TULP1\|INPP5E\|JAG1\|AHI1\|BBS1\|PDE6A\| COL2A1\|GPR98\|CNNM4\|RHO\|NRL\|RP2\|CRB1\|USH1G\|FSCN2\|FZD4\|MAK\|BBS5\|CABP4\|WDPCP\|CAPN5\|TOPORS\|LRP5\|ITM2B\|FLVCR1\|ARL6\| RBP4\|GRM6\|WFS1\|PEX2\|IFT140\|BBIP1\|ADAM9\|TRIM32\|PDE6B\|RD3\|GRK1\|ALMS1\|TTC8\|USH1C\|DMD\|USH2A\|RP1\|CA4\|PAX2\|BBS4\| ZNF513\|OPA1\|BBS9\|MERTK\|PRPH2\|OTX2\|EFEMP1\|CEP164\|PEX7\|RB1\|PDE6C\|CHM\|CEP290\|TSPAN12\|ZNF423\|COL9A1\|TTPA\|RPGR\|GNAT2\|C21orf2\| IQCB1\|CDH23\|RPGRIP1\|TMEM126A\|NPHP3\|MKKS\|BBS2\|KIF11\|DFNB31\|LRAT\|MFN2\|RGS9\|PROM1\|TIMP3\|TMEM237\|NDP\|SEMA4A\|TIMM8A\|CRX\|VCAN\| SDCCAG8\|OFD1\|NPHP1\|FAM161A \|

Cellular component

GO term accession	GO term name	Number of reference genes	Number of genes	Expected number	Ratio of entrichment	P-Value	Adjusted P-Value
GO:0005929	cilium	239	55	2.61	21.10	2.59e-58	5.08e-56
TTC8\|USH1C\|NPHP4\|RP1L1\|RP1\|CC2D2A\|PCDH15\|BBS4\|MYO7A\|MKS1\|BBS10\|BBS7\|CNGA3\|MERTK\|BBS9\|INVS\|RPGRIP1L\|TULP1\|INPP5E\|AHI1\| BBS1\|CEP290\|PDZD7\|RHO\|CNGA1\|RP2\|RPGR\|GNAT2\|LCA5\|MAK\|IQCB1\|BBS5\|CDH23\|RPGRIP1\|WDPCP\|ROM1\|TOPORS\|NPHP3\|MKKS\|BBS2\| DFNB31\|CNGB3\|CDHR1\|BBS12\|ARL6\|PROM1\|TMEM237\|WDR19\|OFD1\|C2orf71\|IFT140\|BBIP1\|ALMS1\|NPHP1\|FAM161A \|
GO:0031513	nonmotile primary cilium	80	32	0.87	36.67	1.40e-42	1.37e-40
TTC8\|USH1C\|RP1L1\|RP1\|CC2D2A\|PCDH15\|BBS4\|MYO7A\|MKS1\|CNGA3\|MERTK\|TULP1\|AHI1\|CEP290\|RHO\|CNGA1\|RPGR\|GNAT2\|MAK\|IQCB1\| ROM1\|TOPORS\|DFNB31\|CNGB3\|CDHR1\|PROM1\|TMEM237\|WDR19\|IFT140\|C2orf71\|FAM161A\|NPHP1 \|
GO:0072372	primary cilium	96	33	1.05	31.52	2.93e-41	1.91e-39
TTC8\|USH1C\|RP1L1\|RP1\|CC2D2A\|PCDH15\|BBS4\|MYO7A\|MKS1\|CNGA3\|MERTK\|TULP1\|AHI1\|CEP290\|RHO\|CNGA1\|RPGR\|GNAT2\|MAK\|IQCB1\| ROM1\|TOPORS\|NPHP3\|DFNB31\|CNGB3\|CDHR1\|PROM1\|TMEM237\|WDR19\|IFT140\|C2orf71\|NPHP1\|FAM161A \|
GO:0044441	cilium part	110	29	1.20	24.17	1.90e-32	9.31e-31
TTC8\|GNAT2\|LCA5\|RP1L1\|RP1\|BBS5\|CC2D2A\|WDPCP\|BBS4\|ROM1\|MKS1\|TOPORS\|BBS7\|BBS2\|BBS9\|CDHR1\|RPGRIP1L\|ARL6\|INPP5E\|PROM1\| TMEM237\|BBS1\|AHI1\|CEP290\|IFT140\|RHO\|CNGA1\|NPHP1\|FAM161A \|
GO:0042995	cell projection	1230	67	13.42	4.99	5.15e-30	2.02e-28
NPHP4\|RP1L1\|CC2D2A\|MYO7A\|MKS1\|CLRN1\|BBS10\|BBS7\|CNGA3\|INVS\|RPGRIP1L\|TULP1\|INPP5E\|AHI1\|BBS1\|RHO\|RP2\|CRB1\|FSCN2\|FZD4\| MAK\|BBS5\|CABP4\|WDPCP\|ROM1\|TOPORS\|CNGB3\|CDHR1\|ARL6\|WFS1\|IFT140\|BBIP1\|CLN3\|ALMS1\|TTC8\|USH1C\|DMD\|RP1\|USH2A\|CA4\| BBS4\|PCDH15\|OPA1\|BBS9\|MERTK\|OTX2\|PDZD7\|CEP290\|CNGA1\|RPGR\|GNAT2\|LCA5\|IQCB1\|CDH23\|RPGRIP1\|MKKS\|NPHP3\|DFNB31\|BBS2\|BBS12\| PROM1\|TMEM237\|WDR19\|OFD1\|C2orf71\|NPHP1\|FAM161A \|
GO:0001750	photoreceptor outer segment	37	19	0.40	47.08	3.03e-28	9.90e-27
GNAT2\|USH1C\|RP1L1\|RP1\|IQCB1\|MAK\|PCDH15\|ROM1\|MYO7A\|CNGA3\|MERTK\|CNGB3\|CDHR1\|TULP1\|PROM1\|C2orf71\|RHO\|CNGA1\|RPGR \|
GO:0005932	microtubule basal body	66	20	0.72	27.78	5.27e-24	1.48e-22
TTC8\|LCA5\|NPHP4\|CDH23\|BBS5\|CC2D2A\|BBS4\|MKS1\|TOPORS\|BBS2\|RPGRIP1L\|ARL6\|AHI1\|CEP290\|WDR19\|OFD1\|IFT140\|ALMS1\|RPGR\|FAM161A \|
GO:0044463	cell projection part	639	42	6.97	6.03	2.11e-21	5.17e-20
TTC8\|NPHP4\|RP1L1\|DMD\|USH2A\|RP1\|CA4\|CC2D2A\|BBS4\|MKS1\|BBS7\|BBS9\|OTX2\|RPGRIP1L\|INPP5E\|AHI1\|BBS1\|CEP290\|RHO\|CNGA1\| RPGR\|GNAT2\|LCA5\|BBS5\|CDH23\|RPGRIP1\|WDPCP\|CABP4\|ROM1\|TOPORS\|BBS2\|DFNB31\|CDHR1\|ARL6\|PROM1\|TMEM237\|WDR19\|OFD1\|IFT140\|ALMS1\| NPHP1\|FAM161A \|
GO:0034464	BBSome	9	9	0.10	91.68	1.80e-18	3.92e-17
TTC8\|ARL6\|BBS1\|BBS5\|BBS4\|BBIP1\|BBS7\|BBS2\|BBS9 \|
GO:0032391	photoreceptor connecting cilium	23	12	0.25	47.83	2.41e-18	4.72e-17
TTC8\|RP1L1\|RP1\|IQCB1\|CEP290\|WDR19\|MYO7A\|IFT140\|TOPORS\|DFNB31\|NPHP1\|FAM161A \|
GO:0005815	microtubule organizing center	486	31	5.30	5.85	1.61e-15	2.87e-14
TTC8\|LCA5\|NPHP4\|IQCB1\|MAK\|CDH23\|BBS5\|CC2D2A\|BBS4\|PAX2\|ARL2BP\|MKS1\|TOPORS\|BBS7\|MKKS\|BBS2\|BBS9\|RPGRIP1L\|ARL6\|CEP164\| UNC119\|AHI1\|CEP290\|SDCCAG8\|WDR19\|OFD1\|NEK2\|IFT140\|ALMS1\|RPGR\|FAM161A \|
GO:0001917	photoreceptor inner segment	20	10	0.22	45.84	3.14e-15	5.13e-14
GNAT2\|USH1C\|RP1\|MAK\|CDH23\|AIPL1\|MYO7A\|RHO\|DFNB31\|TULP1 \|
GO:0015630	microtubule cytoskeleton	863	37	9.41	3.93	5.76e-13	8.68e-12
TTC8\|NPHP4\|RP1L1\|RP1\|CC2D2A\|BBS4\|PAX2\|ARL2BP\|MKS1\|BBS7\|BBS9\|INVS\|RPGRIP1L\|CEP164\|UNC119\|RB1\|AHI1\|CEP290\|NEK2\|RPGR\| LCA5\|MAK\|IQCB1\|BBS5\|CDH23\|TOPORS\|MKKS\|BBS2\|KIF11\|MFN2\|ARL6\|WDR19\|SDCCAG8\|OFD1\|IFT140\|ALMS1\|FAM161A \|
GO:0042622	photoreceptor outer segment membrane	8	6	0.09	68.76	4.27e-11	5.98e-10
RHO\|GNAT2\|PROM1\|CNGA1\|CDHR1\|ROM1 \|
GO:0032420	stereocilium	23	8	0.25	31.89	7.34e-11	9.59e-10
PROM1\|FSCN2\|USH1C\|USH2A\|CDH23\|PCDH15\|MYO7A\|DFNB31 \|
GO:0060170	cilium membrane	25	8	0.27	29.34	1.59e-10	1.83e-09
TTC8\|ARL6\|BBS1\|BBS5\|BBS4\|BBS7\|BBS9\|BBS2 \|
GO:0005813	centrosome	376	22	4.10	5.36	1.49e-10	1.83e-09
TTC8\|NPHP4\|IQCB1\|MAK\|BBS4\|PAX2\|ARL2BP\|MKS1\|TOPORS\|BBS7\|MKKS\|RPGRIP1L\|CEP164\|UNC119\|AHI1\|CEP290\|SDCCAG8\|NEK2\|OFD1\|ALMS1\| RPGR\|FAM161A \|
GO:0032421	stereocilium bundle	27	8	0.29	27.17	3.20e-10	3.48e-09
PROM1\|FSCN2\|USH1C\|USH2A\|CDH23\|PCDH15\|MYO7A\|DFNB31 \|
GO:0005902	microvillus	68	10	0.74	13.48	3.14e-09	3.24e-08
CRB1\|PROM1\|FSCN2\|USH1C\|USH2A\|CDH23\|PCDH15\|MYO7A\|CLRN1\|DFNB31 \|
GO:0044430	cytoskeletal part	1287	39	14.04	2.78	3.99e-09	3.91e-08
TTC8\|NPHP4\|RP1L1\|RP1\|CC2D2A\|BBS4\|PAX2\|ARL2BP\|MYO7A\|MKS1\|BBS7\|BBS9\|INVS\|RPGRIP1L\|CEP164\|UNC119\|RB1\|AHI1\|CEP290\|NEK2\| RPGR\|LCA5\|MAK\|IQCB1\|BBS5\|CDH23\|TOPORS\|MKKS\|BBS2\|KIF11\|DFNB31\|ARL6\|WDR19\|SDCCAG8\|OFD1\|IFT140\|TRIM32\|ALMS1\|FAM161A \|
GO:0005930	axoneme	70	10	0.76	13.10	4.21e-09	3.93e-08
ARL6\|INPP5E\|LCA5\|RP1L1\|RP1\|RPGRIP1\|WDPCP\|IFT140\|NPHP1\|RPGRIP1L \|
GO:0035085	cilium axoneme	52	9	0.57	15.87	4.42e-09	3.94e-08
ARL6\|INPP5E\|LCA5\|RP1L1\|RP1\|WDPCP\|IFT140\|NPHP1\|RPGRIP1L \|
GO:0005856	cytoskeleton	1790	47	19.52	2.41	7.23e-09	6.16e-08
TTC8\|USH1C\|NPHP4\|RP1L1\|DMD\|RP1\|CC2D2A\|BBS4\|PAX2\|ARL2BP\|MYO7A\|MKS1\|BBS7\|BBS9\|INVS\|RPGRIP1L\|CEP164\|UNC119\|INPP5E\|RB1\| AHI1\|CEP290\|NEK2\|RPGR\|LCA5\|FSCN2\|USH1G\|MAK\|IQCB1\|BBS5\|CDH23\|WDPCP\|TOPORS\|MKKS\|BBS2\|KIF11\|DFNB31\|MFN2\|ARL6\|WDR19\| SDCCAG8\|OFD1\|IFT140\|TRIM32\|ALMS1\|NPHP1\|FAM161A \|
GO:0031514	motile cilium	12	5	0.13	38.20	1.09e-07	8.90e-07
MKKS\|BBS2\|NPHP1\|WDR19\|BBS4 \|
GO:0035869	ciliary transition zone	16	5	0.17	28.65	5.80e-07	4.55e-06
TMEM237\|AHI1\|CEP290\|CC2D2A\|MKS1 \|
GO:0044450	microtubule organizing center part	94	9	1.03	8.78	8.63e-07	6.51e-06
CEP164\|TOPORS\|AHI1\|CEP290\|ALMS1\|SDCCAG8\|BBS4\|PAX2\|OFD1 \|
GO:0005814	centriole	59	7	0.64	10.88	3.47e-06	2.52e-05
CEP164\|TOPORS\|AHI1\|ALMS1\|SDCCAG8\|BBS4\|OFD1 \|
GO:0002139	stereocilia coupling link	4	3	0.04	68.76	5.07e-06	3.31e-05
DFNB31\|USH2A\|GPR98 \|
GO:0002141	stereocilia ankle link	4	3	0.04	68.76	5.07e-06	3.31e-05
DFNB31\|USH2A\|GPR98 \|
GO:0002142	stereocilia ankle link complex	4	3	0.04	68.76	5.07e-06	3.31e-05
DFNB31\|USH2A\|GPR98 \|
GO:0036038	TCTN-B9D complex	12	4	0.13	30.56	6.33e-06	4.00e-05
AHI1\|CEP290\|CC2D2A\|MKS1 \|
GO:0031253	cell projection membrane	187	11	2.04	5.39	6.65e-06	4.07e-05
TTC8\|ARL6\|PROM1\|BBS1\|USH2A\|CA4\|BBS5\|BBS4\|BBS7\|BBS2\|BBS9 \|
GO:0044459	plasma membrane part	1918	41	20.92	1.96	1.68e-05	9.98e-05
TTC8\|CACNA1F\|OPN1LW\|DMD\|USH2A\|CA4\|BBS4\|MYO7A\|RS1\|BBS7\|MERTK\|BBS9\|JAG1\|BBS1\|GUCY2D\|ABCC6\|BEST1\|RHO\|TSPAN12\|CNGA1\| ABCA4\|CRB1\|GNAT2\|RGR\|FZD4\|BBS5\|WDPCP\|ROM1\|TRPM1\|BBS2\|FLVCR1\|CDHR1\|ARL6\|RGS9\|GRM6\|PROM1\|SLC24A1\|KCNV2\|ADAM9\|GPR125\| CLN3 \|
GO:0005682	U5 snRNP	6	3	0.07	45.84	2.49e-05	0.0001
PRPF8\|SNRNP200\|PRPF6 \|
GO:0005578	proteinaceous extracellular matrix	360	14	3.93	3.57	4.22e-05	0.0002
EFEMP1\|TIMP3\|USH2A\|VCAN\|IMPG1\|IMPG2\|COL2A1\|ADAMTS18\|C1QTNF5\|COL11A1\|RBP3\|COL9A1\|HMCN1\|NYX \|
GO:0030532	small nuclear ribonucleoprotein complex	33	5	0.36	13.89	2.71e-05	0.0002
PRPF8\|PRPF4\|SNRNP200\|PRPF6\|PRPF31 \|
GO:0036064	cilium basal body	8	3	0.09	34.38	6.87e-05	0.0004
IFT140\|TOPORS\|FAM161A \|
GO:0031012	extracellular matrix	426	15	4.65	3.23	6.94e-05	0.0004
EFEMP1\|TIMP3\|NDP\|USH2A\|VCAN\|IMPG1\|IMPG2\|COL2A1\|ADAMTS18\|C1QTNF5\|COL11A1\|RBP3\|COL9A1\|HMCN1\|NYX \|
GO:0071001	U4/U6 snRNP	3	2	0.03	61.12	0.0004	0.0020
PRPF4\|PRPF6 \|
GO:0046540	U4/U6 x U5 tri-snRNP complex	4	2	0.04	45.84	0.0007	0.0034
PRPF6\|PRPF31 \|

Molecular Function

GO term accession	GO term name	Number of reference genes	Number of genes	Expected number	Ratio of entrichment	P-Value	Adjusted P-Value
GO:0030553	cGMP binding	12	6	0.13	44.95	1.52e-09	3.30e-07
PDE6C\|PDE6G\|CNGA1\|CNGA3\|CNGB3\|PDE6H \|
GO:0009881	photoreceptor activity	15	6	0.17	35.96	7.98e-09	8.66e-07
RHO\|GNAT2\|OPN1LW\|RGR\|ELOVL4\|TULP1 \|
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	10	5	0.11	44.95	3.87e-08	2.80e-06
PDE6C\|PDE6G\|PDE6B\|PDE6A\|PDE6H \|
GO:0030551	cyclic nucleotide binding	28	6	0.31	19.27	5.33e-07	2.89e-05
PDE6C\|PDE6G\|CNGA1\|CNGA3\|CNGB3\|PDE6H \|
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	24	5	0.27	18.73	5.75e-06	0.0002
PDE6C\|PDE6G\|PDE6B\|PDE6A\|PDE6H \|
GO:0004112	cyclic-nucleotide phosphodiesterase activity	25	5	0.28	17.98	7.12e-06	0.0003
PDE6C\|PDE6G\|PDE6B\|PDE6A\|PDE6H \|
GO:0008020	G-protein coupled photoreceptor activity	6	3	0.07	44.95	2.64e-05	0.0008
GNAT2\|ELOVL4\|TULP1 \|
GO:0019841	retinol binding	12	3	0.13	22.48	0.0003	0.0072
RBP4\|LRAT\|RLBP1 \|
GO:0016918	retinal binding	12	3	0.13	22.48	0.0003	0.0072
RBP4\|RBP3\|RLBP1 \|
GO:0032561	guanyl ribonucleotide binding	392	13	4.36	2.98	0.0004	0.0079
ARL6\|GNAT2\|PDE6C\|PDE6G\|GUCY2D\|PDE6H\|RAB28\|RP2\|CNGA1\|OPA1\|CNGA3\|CNGB3\|MFN2 \|
GO:0019001	guanyl nucleotide binding	392	13	4.36	2.98	0.0004	0.0079
ARL6\|GNAT2\|PDE6C\|PDE6G\|GUCY2D\|PDE6H\|RAB28\|RP2\|CNGA1\|OPA1\|CNGA3\|CNGB3\|MFN2 \|
GO:0005488	binding	11955	150	132.97	1.13	0.0005	0.0090
NPHP4\|MVK\|RP1L1\|ARL2BP\|MKS1\|CIB2\|BBS10\|RS1\|CNGA3\|OAT\|HMCN1\|INVS\|EYS\|RIMS1\|BBS1\|ABCC6\|PDE6A\|COL2A1\|ADAMTS18\|RHO\| RP2\|CRB1\|SNRNP200\|HARS\|MAK\|BBS5\|TOPORS\|LRP5\|ITM2B\|CACNA2D4\|FLVCR1\|PEX1\|RBP4\|PDE6G\|SLC24A1\|RPE65\|RDH5\|ADAM9\|BBIP1\|PRPF4\| CLN3\|PANK2\|USH1C\|PRPF31\|PAX2\|BBS4\|IMPG2\|PCDH15\|CYP4V2\|BBS9\|MERTK\|GUCA1B\|EFEMP1\|CEP164\|RB1\|PDE6C\|PDZD7\|GUCY2D\|CEP290\|NEK2\| CNGA1\|PRPF6\|COL9A1\|GUCA1A\|ABCA4\|GNAT2\|NMNAT1\|IQCB1\|CDH23\|PLA2G5\|RAB28\|MKKS\|NPHP3\|BBS12\|CRX\|TIMM8A\|VCAN\|SDCCAG8\|OFD1\|FAM161A\| PITPNM3\|LZTFL1\|ELOVL4\|MYO7A\|COL11A1\|BBS7\|RBP3\|TULP1\|RPGRIP1L\|NR2E3\|SAG\|JAG1\|AHI1\|PDE6H\|RP9\|GPR98\|CDH3\|NRL\|FSCN2\|USH1G\| RGR\|FZD4\|CABP4\|PRPF3\|CNGB3\|CDHR1\|DHDDS\|ARL6\|WFS1\|PEX2\|TRIM32\|PDE6B\|GRK1\|TTC8\|PRPF8\|DMD\|RP1\|USH2A\|CA4\|ZNF513\| RLBP1\|OPA1\|OTX2\|UNC119\|PEX7\|CHM\|AIPL1\|RAX2\|ZNF423\|TTPA\|RPGR\|ACBD5\|KLHL7\|LCA5\|RPGRIP1\|DFNB31\|BBS2\|KIF11\|LRAT\|PHYH\|MFN2\|RGS9\|PROM1\|TIMP3\|NDP\|PGK1\|IMPDH1\|RDH12\|IDH3B\|NPHP1 \|
GO:0005501	retinoid binding	35	4	0.39	10.27	0.0006	0.0100
RBP4\|RBP3\|LRAT\|RLBP1 \|
GO:0019840	isoprenoid binding	37	4	0.41	9.72	0.0007	0.0109
RBP4\|RBP3\|LRAT\|RLBP1 \|
GO:0019842	vitamin binding	137	7	1.52	4.59	0.0009	0.0130
RBP4\|RBP3\|OAT\|TTPA\|LRAT\|PHYH\|RLBP1 \|
GO:0005515	protein binding	7337	102	81.61	1.25	0.0011	0.0149
LZTFL1\|PITPNM3\|NPHP4\|MVK\|RP1L1\|ELOVL4\|ARL2BP\|MYO7A\|MKS1\|BBS10\|BBS7\|COL11A1\|INVS\|RPGRIP1L\|TULP1\|SAG\|JAG1\|AHI1\|RIMS1\|BBS1\| COL2A1\|GPR98\|RP9\|RHO\|NRL\|RP2\|USH1G\|FSCN2\|SNRNP200\|RGR\|FZD4\|MAK\|BBS5\|TOPORS\|LRP5\|PRPF3\|ITM2B\|FLVCR1\|PEX1\|ARL6\| DHDDS\|RBP4\|SLC24A1\|WFS1\|PEX2\|BBIP1\|ADAM9\|PRPF4\|TRIM32\|CLN3\|TTC8\|PRPF8\|USH1C\|DMD\|USH2A\|RP1\|PRPF31\|CA4\|PAX2\|BBS4\| OPA1\|BBS9\|MERTK\|OTX2\|EFEMP1\|CEP164\|PEX7\|UNC119\|RB1\|CHM\|PDZD7\|GUCY2D\|CEP290\|AIPL1\|NEK2\|ZNF423\|PRPF6\|RPGR\|GNAT2\|KLHL7\| LCA5\|NMNAT1\|IQCB1\|CDH23\|RPGRIP1\|NPHP3\|MKKS\|DFNB31\|BBS2\|KIF11\|PHYH\|BBS12\|MFN2\|RGS9\|PROM1\|TIMP3\|NDP\|CRX\|SDCCAG8\|OFD1\| NPHP1\|FAM161A \|
GO:0008048	calcium sensitive guanylate cyclase activator activity	5	2	0.06	35.96	0.0012	0.0153
GUCA1A\|GUCA1B \|
GO:0005509	calcium ion binding	668	17	7.43	2.29	0.0013	0.0157
CRB1\|PITPNM3\|CDH23\|CABP4\|PLA2G5\|PCDH15\|CIB2\|HMCN1\|CDHR1\|GUCA1B\|EYS\|EFEMP1\|JAG1\|VCAN\|GPR98\|CDH3\|GUCA1A \|
GO:0010853	cyclase activator activity	6	2	0.07	29.97	0.0018	0.0170
GUCA1A\|GUCA1B \|
GO:0042813	Wnt-activated receptor activity	21	3	0.23	12.84	0.0016	0.0170
TSPAN12\|LRP5\|FZD4 \|
GO:0030250	guanylate cyclase activator activity	6	2	0.07	29.97	0.0018	0.0170
GUCA1A\|GUCA1B \|
GO:0030020	extracellular matrix structural constituent conferring tensile strength	6	2	0.07	29.97	0.0018	0.0170
COL9A1\|COL2A1 \|
GO:0005201	extracellular matrix structural constituent	78	5	0.87	5.76	0.0018	0.0170
COL11A1\|COL9A1\|IMPG1\|IMPG2\|COL2A1 \|
GO:0030249	guanylate cyclase regulator activity	7	2	0.08	25.69	0.0025	0.0226
GUCA1A\|GUCA1B \|
GO:0043522	leucine zipper domain binding	8	2	0.09	22.48	0.0033	0.0275
NRL\|CRX \|
GO:0010851	cyclase regulator activity	8	2	0.09	22.48	0.0033	0.0275
GUCA1A\|GUCA1B \|
GO:0008081	phosphoric diester hydrolase activity	95	5	1.06	4.73	0.0042	0.0304
PDE6C\|PDE6G\|PDE6B\|PDE6A\|PDE6H \|
GO:0043855	cyclic nucleotide-gated ion channel activity	9	2	0.10	19.98	0.0042	0.0304
CNGA3\|CNGB3 \|
GO:0005221	intracellular cyclic nucleotide activated cation channel activity	9	2	0.10	19.98	0.0042	0.0304
CNGA3\|CNGB3 \|
GO:0017022	myosin binding	29	3	0.32	9.30	0.0040	0.0304
TRIM32\|USH2A\|GPR98 \|
GO:0043168	anion binding	2402	40	26.72	1.50	0.0048	0.0336
PANK2\|MVK\|IMPG2\|MYO7A\|BBS10\|RS1\|OPA1\|OAT\|CNGA3\|MERTK\|TULP1\|PDE6C\|GUCY2D\|ABCC6\|PDE6H\|NEK2\|CNGA1\|RP2\|ABCA4\|ACBD5\| GNAT2\|SNRNP200\|NMNAT1\|HARS\|MAK\|RAB28\|PLA2G5\|MKKS\|KIF11\|ITM2B\|LRAT\|CNGB3\|PHYH\|BBS12\|MFN2\|PEX1\|ARL6\|PDE6G\|PGK1\|GRK1 \|

RetinoGenetics

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Gene ontology analysis