C2CD3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.76999338
2L-fucose catabolic process (GO:0042355)5.45998552
3fucose catabolic process (GO:0019317)5.45998552
4L-fucose metabolic process (GO:0042354)5.45998552
5mitotic sister chromatid cohesion (GO:0007064)4.73140727
6cilium or flagellum-dependent cell motility (GO:0001539)4.62677580
7regulation of hippo signaling (GO:0035330)4.40176355
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.34589345
9interkinetic nuclear migration (GO:0022027)4.29571577
10snRNA transcription (GO:0009301)4.22029539
11kynurenine metabolic process (GO:0070189)4.12290381
12tryptophan catabolic process (GO:0006569)4.06432737
13indole-containing compound catabolic process (GO:0042436)4.06432737
14indolalkylamine catabolic process (GO:0046218)4.06432737
15positive regulation of gamma-delta T cell activation (GO:0046645)3.98501995
16histone H3-K4 trimethylation (GO:0080182)3.93314713
17motile cilium assembly (GO:0044458)3.78966173
18negative regulation of histone methylation (GO:0031061)3.72402575
19indolalkylamine metabolic process (GO:0006586)3.68948422
20meiotic chromosome segregation (GO:0045132)3.68589326
21protein K48-linked deubiquitination (GO:0071108)3.62327255
22cilium movement (GO:0003341)3.52951769
23histone H3-K4 methylation (GO:0051568)3.48441951
24V(D)J recombination (GO:0033151)3.45110525
25negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.45037551
26negative regulation of translation, ncRNA-mediated (GO:0040033)3.45037551
27regulation of translation, ncRNA-mediated (GO:0045974)3.45037551
28regulation of posttranscriptional gene silencing (GO:0060147)3.43523215
29regulation of gene silencing by miRNA (GO:0060964)3.43523215
30regulation of gene silencing by RNA (GO:0060966)3.43523215
31epithelial cilium movement (GO:0003351)3.38555793
32nuclear pore complex assembly (GO:0051292)3.36855085
33regulation of histone H3-K9 methylation (GO:0051570)3.32932203
34mitotic chromosome condensation (GO:0007076)3.31786229
35tryptophan metabolic process (GO:0006568)3.31573643
36cellular response to exogenous dsRNA (GO:0071360)3.28761565
37cytoplasmic mRNA processing body assembly (GO:0033962)3.23899180
38regulation of DNA endoreduplication (GO:0032875)3.23773403
39cellular ketone body metabolic process (GO:0046950)3.22519058
40peptidyl-lysine trimethylation (GO:0018023)3.20250601
41kinetochore organization (GO:0051383)3.20115238
42cornea development in camera-type eye (GO:0061303)3.19124405
43positive regulation of gene expression, epigenetic (GO:0045815)3.17751228
44response to pheromone (GO:0019236)3.15997387
45axoneme assembly (GO:0035082)3.15115612
46translesion synthesis (GO:0019985)3.14129551
47dosage compensation (GO:0007549)3.12928121
48definitive hemopoiesis (GO:0060216)3.12491256
49histone H3-K9 methylation (GO:0051567)3.11533331
50detection of light stimulus involved in visual perception (GO:0050908)3.08864217
51detection of light stimulus involved in sensory perception (GO:0050962)3.08864217
52monoubiquitinated protein deubiquitination (GO:0035520)3.08235539
53DNA unwinding involved in DNA replication (GO:0006268)3.08192542
54oxidative demethylation (GO:0070989)3.06627061
55pericardium development (GO:0060039)3.05134809
56NAD biosynthetic process (GO:0009435)3.04481103
57sister chromatid segregation (GO:0000819)3.03424953
58regulation of histone H3-K4 methylation (GO:0051569)3.02334965
59fucosylation (GO:0036065)3.01700725
60sister chromatid cohesion (GO:0007062)3.01042965
61positive regulation of granulocyte differentiation (GO:0030854)3.00929149
62regulation of sister chromatid cohesion (GO:0007063)3.00164211
63regulation of gamma-delta T cell differentiation (GO:0045586)3.00143575
64rRNA catabolic process (GO:0016075)2.99879648
65alternative mRNA splicing, via spliceosome (GO:0000380)2.99235999
66mRNA splice site selection (GO:0006376)2.99125305
67positive regulation of CREB transcription factor activity (GO:0032793)2.98922250
68histone lysine methylation (GO:0034968)2.98161952
69primary amino compound metabolic process (GO:1901160)2.97810690
70histone H3-K36 demethylation (GO:0070544)2.97541600
71regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.97324235
72nucleosome disassembly (GO:0006337)2.96958775
73protein-DNA complex disassembly (GO:0032986)2.96958775
74pre-miRNA processing (GO:0031054)2.96899213
75microtubule depolymerization (GO:0007019)2.93691047
76endosome to melanosome transport (GO:0035646)2.93621850
77endosome to pigment granule transport (GO:0043485)2.93621850
78axonemal dynein complex assembly (GO:0070286)2.89981858
79ketone body metabolic process (GO:1902224)2.89012331
80cardiovascular system development (GO:0072358)2.88940315
81sulfation (GO:0051923)2.88207051
82negative regulation of mast cell activation (GO:0033004)2.85956818
83regulation of gamma-delta T cell activation (GO:0046643)2.85689911
84histone-serine phosphorylation (GO:0035404)2.85637689
85nuclear pore organization (GO:0006999)2.85023520
86regulation of histone methylation (GO:0031060)2.84758027
87gamma-aminobutyric acid transport (GO:0015812)2.84438441
88indole-containing compound metabolic process (GO:0042430)2.83475473
89gene silencing by RNA (GO:0031047)2.82119679
90positive regulation of developmental pigmentation (GO:0048087)2.81915986
91positive regulation of histone deacetylation (GO:0031065)2.81689916
92DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.81523772
93macroautophagy (GO:0016236)2.79683466
94pore complex assembly (GO:0046931)2.79145806
95histone H3-K9 modification (GO:0061647)2.76236460
96cellular response to ATP (GO:0071318)2.75118014
97multicellular organism reproduction (GO:0032504)2.74689939
98protein polyglutamylation (GO:0018095)2.74501670
99regulation of chromatin silencing (GO:0031935)2.73606990
100negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.72485937
101positive regulation of fatty acid oxidation (GO:0046321)2.72446894
102protein import into peroxisome matrix (GO:0016558)2.70377918
103regulation of chemokine-mediated signaling pathway (GO:0070099)2.70021629
104kidney morphogenesis (GO:0060993)2.69940402
105negative T cell selection (GO:0043383)2.69773193
106mitotic sister chromatid segregation (GO:0000070)2.69303906
107intra-S DNA damage checkpoint (GO:0031573)2.69021903
108regulation of pigment cell differentiation (GO:0050932)2.68501558
109regulation of establishment of cell polarity (GO:2000114)2.68152556
110neuronal action potential (GO:0019228)2.67404317
111protein localization to chromosome, centromeric region (GO:0071459)2.67117225
112reciprocal meiotic recombination (GO:0007131)2.66487020
113reciprocal DNA recombination (GO:0035825)2.66487020
114cellular biogenic amine catabolic process (GO:0042402)2.66254851
115amine catabolic process (GO:0009310)2.66254851
116histone H4-K16 acetylation (GO:0043984)2.65937948
117attachment of spindle microtubules to kinetochore (GO:0008608)2.65618729
118neural tube formation (GO:0001841)2.64735098
119gene silencing (GO:0016458)2.63810462
120kinetochore assembly (GO:0051382)2.63775922
121* cilium organization (GO:0044782)2.63217361
122protein localization to kinetochore (GO:0034501)2.63065009
123serotonin metabolic process (GO:0042428)2.62810321
124transmission of nerve impulse (GO:0019226)2.62191559
125protein K63-linked deubiquitination (GO:0070536)2.61565607
126retinal cone cell development (GO:0046549)2.61438758
127histone H4-K12 acetylation (GO:0043983)2.61255389
128basic amino acid transport (GO:0015802)2.60578691
129nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)2.60317519
130histone lysine demethylation (GO:0070076)2.59928500
131membrane depolarization during action potential (GO:0086010)2.59443739
132detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.59407654
133negative regulation of telomere maintenance (GO:0032205)2.59154776
134histone phosphorylation (GO:0016572)2.58856215
135spinal cord motor neuron differentiation (GO:0021522)2.58585677
136histone mRNA catabolic process (GO:0071044)2.58572853
137histone methylation (GO:0016571)2.58047665
138positive T cell selection (GO:0043368)2.57955287
139regulation of nuclear cell cycle DNA replication (GO:0033262)2.57896165
140negative thymic T cell selection (GO:0045060)2.57298542
141negative regulation of reactive oxygen species metabolic process (GO:2000378)2.56996006
142regulation of DNA damage checkpoint (GO:2000001)2.56887910
143mismatch repair (GO:0006298)2.56557549
144regulation of action potential (GO:0098900)2.56515688
145positive regulation of mitotic sister chromatid separation (GO:1901970)2.56209891
146positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.56209891
147positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.56209891
148negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.55611539
149histone H3-K9 demethylation (GO:0033169)2.55241135
150centriole assembly (GO:0098534)2.55032158
151histone demethylation (GO:0016577)2.54932065
152T cell homeostasis (GO:0043029)2.54903152
153photoreceptor cell maintenance (GO:0045494)2.54847525
154* cilium assembly (GO:0042384)2.54721571
155DNA damage response, signal transduction resulting in transcription (GO:0042772)2.54699239
156establishment of protein localization to Golgi (GO:0072600)2.54669556
157positive regulation of histone H3-K4 methylation (GO:0051571)2.54489643
158positive regulation of defense response to virus by host (GO:0002230)2.53602625
159positive regulation of fatty acid beta-oxidation (GO:0032000)2.53243604
160DNA methylation involved in gamete generation (GO:0043046)2.53229703
161regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.53198990
162positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.53198990
163DNA duplex unwinding (GO:0032508)2.52640448
164DNA topological change (GO:0006265)2.51728792
165regulation of mesoderm development (GO:2000380)2.51198807
166histone H2A acetylation (GO:0043968)2.51076540
167striated muscle atrophy (GO:0014891)2.50999598
168positive thymic T cell selection (GO:0045059)2.50602804
169DNA geometric change (GO:0032392)2.50393960
170negative regulation of sodium ion transport (GO:0010766)2.49890780
171phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.49747170
172positive regulation of mRNA catabolic process (GO:0061014)2.49438459
173DNA methylation (GO:0006306)2.49418518
174DNA alkylation (GO:0006305)2.49418518
175negative regulation of T cell differentiation in thymus (GO:0033085)2.49138531
176reflex (GO:0060004)2.48922262
177regulation of female gonad development (GO:2000194)2.47749707
178protein localization to chromosome (GO:0034502)2.47556214
179nephron tubule morphogenesis (GO:0072078)2.46877099
180nephron epithelium morphogenesis (GO:0072088)2.46877099
181maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.46589827
182cAMP catabolic process (GO:0006198)2.46518740
183regulation of establishment or maintenance of cell polarity (GO:0032878)2.45951471
184musculoskeletal movement (GO:0050881)2.45857821
185histone H4 acetylation (GO:0043967)2.45767863
186positive regulation of histone methylation (GO:0031062)2.45336783
187peptidyl-lysine methylation (GO:0018022)2.44839763
188centriole replication (GO:0007099)2.44703707
189negative regulation of DNA-dependent DNA replication (GO:2000104)2.44615093
190regulation of RNA export from nucleus (GO:0046831)2.44583013
191protein K6-linked ubiquitination (GO:0085020)2.43731885
192interferon-gamma production (GO:0032609)2.42623124

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.91394149
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.53091651
3ZNF274_21170338_ChIP-Seq_K562_Hela3.91685629
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.41289182
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.39612823
6TP63_19390658_ChIP-ChIP_HaCaT_Human3.39260967
7E2F4_17652178_ChIP-ChIP_JURKAT_Human3.25322964
8EGR1_19374776_ChIP-ChIP_THP-1_Human3.07418358
9RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.05209329
10SCL_19346495_ChIP-Seq_HPC-7_Human2.97450331
11MYC_22102868_ChIP-Seq_BL_Human2.91063395
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.81188202
13VDR_22108803_ChIP-Seq_LS180_Human2.72187812
14HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.51667439
15DROSHA_22980978_ChIP-Seq_HELA_Human2.45232348
16SALL1_21062744_ChIP-ChIP_HESCs_Human2.35881721
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.35606091
18FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.29741798
19RUNX_20019798_ChIP-Seq_JUKART_Human2.17907178
20* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.10742536
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.02499225
22MYB_26560356_Chip-Seq_TH2_Human2.01405699
23STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.00870846
24IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.97946518
25AR_21572438_ChIP-Seq_LNCaP_Human1.92482767
26CIITA_25753668_ChIP-Seq_RAJI_Human1.89167248
27E2F1_21310950_ChIP-Seq_MCF-7_Human1.88136226
28PKCTHETA_26484144_Chip-Seq_BREAST_Human1.83889711
29STAT3_23295773_ChIP-Seq_U87_Human1.81403869
30MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.79049412
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78993124
32BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.78858904
33MYB_26560356_Chip-Seq_TH1_Human1.76623370
34ER_23166858_ChIP-Seq_MCF-7_Human1.72224490
35* REST_21632747_ChIP-Seq_MESCs_Mouse1.70102631
36TCF7_22412390_ChIP-Seq_EML_Mouse1.69805784
37SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.67754804
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.66191818
39TP53_16413492_ChIP-PET_HCT116_Human1.65094647
40VDR_21846776_ChIP-Seq_THP-1_Human1.63324438
41MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.61944974
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60350126
43STAT6_21828071_ChIP-Seq_BEAS2B_Human1.58618844
44TCF4_23295773_ChIP-Seq_U87_Human1.56193296
45AHR_22903824_ChIP-Seq_MCF-7_Human1.50864673
46UTX_26944678_Chip-Seq_JUKART_Human1.49466911
47NR3C1_21868756_ChIP-Seq_MCF10A_Human1.47163520
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.46109061
49AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.43755233
50ARNT_22903824_ChIP-Seq_MCF-7_Human1.43458562
51KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.43436781
52ELF1_17652178_ChIP-ChIP_JURKAT_Human1.41868215
53IRF1_19129219_ChIP-ChIP_H3396_Human1.40950002
54RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.40512842
55GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.40440737
56ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.40418269
57ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.39712435
58MAF_26560356_Chip-Seq_TH1_Human1.38688935
59BCAT_22108803_ChIP-Seq_LS180_Human1.35400468
60GATA3_21878914_ChIP-Seq_MCF-7_Human1.35201332
61ERA_21632823_ChIP-Seq_H3396_Human1.34851814
62IGF1R_20145208_ChIP-Seq_DFB_Human1.34361640
63MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.34086236
64NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.33315632
65DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.31430163
66NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.29508213
67SMAD4_21799915_ChIP-Seq_A2780_Human1.28998924
68CBX2_27304074_Chip-Seq_ESCs_Mouse1.28705892
69AR_25329375_ChIP-Seq_VCAP_Human1.28479597
70* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.28346381
71PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.28125246
72CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.27760344
73UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.27686746
74HOXB7_26014856_ChIP-Seq_BT474_Human1.26402489
75EZH2_27294783_Chip-Seq_ESCs_Mouse1.25843353
76IRF8_22096565_ChIP-ChIP_GC-B_Human1.25671322
77JARID2_20075857_ChIP-Seq_MESCs_Mouse1.25041363
78VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.23843800
79BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.23674162
80JARID2_20064375_ChIP-Seq_MESCs_Mouse1.23397916
81P300_19829295_ChIP-Seq_ESCs_Human1.23156088
82FUS_26573619_Chip-Seq_HEK293_Human1.21610244
83TAF15_26573619_Chip-Seq_HEK293_Human1.21214625
84SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20293525
85BMI1_23680149_ChIP-Seq_NPCS_Mouse1.20079900
86IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.19056016
87CBP_20019798_ChIP-Seq_JUKART_Human1.17707264
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17707264
89ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.16907247
90YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.16022339
91PRDM14_20953172_ChIP-Seq_ESCs_Human1.15710548
92ESR1_20079471_ChIP-ChIP_T-47D_Human1.15243685
93HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.14424747
94STAT4_19710469_ChIP-ChIP_TH1__Mouse1.14424510
95FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.11938912
96FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.11588879
97CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.11032386
98RUNX2_22187159_ChIP-Seq_PCA_Human1.10615111
99SUZ12_27294783_Chip-Seq_ESCs_Mouse1.10476473
100TDRD3_21172665_ChIP-Seq_MCF-7_Human1.10417309
101EZH2_27304074_Chip-Seq_ESCs_Mouse1.10301692
102TP53_22573176_ChIP-Seq_HFKS_Human1.10288061
103DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.10186095
104RNF2_27304074_Chip-Seq_ESCs_Mouse1.09761234
105SMAD4_21741376_ChIP-Seq_EPCs_Human1.09519123
106OCT4_20526341_ChIP-Seq_ESCs_Human1.07605734
107SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.07211168
108EED_16625203_ChIP-ChIP_MESCs_Mouse1.06728126
109RBPJ_22232070_ChIP-Seq_NCS_Mouse1.06576890
110MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06203635
111SPI1_23127762_ChIP-Seq_K562_Human1.06096155
112* OCT1_27270436_Chip-Seq_PROSTATE_Human1.06068143
113ETV2_25802403_ChIP-Seq_MESCs_Mouse1.05716593
114E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.05571975
115AR_19668381_ChIP-Seq_PC3_Human1.04205659
116ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03523907
117SMAD3_21741376_ChIP-Seq_ESCs_Human1.03373727
118RXR_22108803_ChIP-Seq_LS180_Human1.03322798
119VDR_24763502_ChIP-Seq_THP-1_Human1.03236853
120EWS_26573619_Chip-Seq_HEK293_Human1.02950044
121TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.02858618
122* TCF4_22108803_ChIP-Seq_LS180_Human1.01628642
123MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.01264362
124FOXA1_27270436_Chip-Seq_PROSTATE_Human1.00584931
125FOXA1_25329375_ChIP-Seq_VCAP_Human1.00584931
126SMAD3_21741376_ChIP-Seq_EPCs_Human0.99419635
127SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.97739853
128SPI1_23547873_ChIP-Seq_NB4_Human0.97216441
129* TAF2_19829295_ChIP-Seq_ESCs_Human0.97005747
130SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.96570849
131POU3F2_20337985_ChIP-ChIP_501MEL_Human0.96224596
132SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.95913410
133TOP2B_26459242_ChIP-Seq_MCF-7_Human0.95859603
134FLI1_21867929_ChIP-Seq_TH2_Mouse0.95556130
135REST_18959480_ChIP-ChIP_MESCs_Mouse0.95161769
136RUNX1_22412390_ChIP-Seq_EML_Mouse0.94830471
137P53_22127205_ChIP-Seq_FIBROBLAST_Human0.94376665
138NCOR_22424771_ChIP-Seq_293T_Human0.94251854
139TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93944888
140TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.93800414
141CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.93796651
142SOX2_21211035_ChIP-Seq_LN229_Gbm0.93248215
143RAC3_21632823_ChIP-Seq_H3396_Human0.92892506
144GATA3_27048872_Chip-Seq_THYMUS_Human0.92799860
145TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92796657
146ETS1_22383799_ChIP-Seq_G1ME_Mouse0.92740517
147KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.92220347
148TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.92123040
149GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.91903762
150MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.91524529
151IRF8_27001747_Chip-Seq_BMDM_Mouse0.90710713
152KDM2B_26808549_Chip-Seq_DND41_Human0.89666646
153PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.89090810
154HOXB4_20404135_ChIP-ChIP_EML_Mouse0.87261618
155NOTCH1_21737748_ChIP-Seq_TLL_Human0.86511527
156KDM2B_26808549_Chip-Seq_JURKAT_Human0.86193000
157VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.85687629
158PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.85125670
159FLI1_27457419_Chip-Seq_LIVER_Mouse0.84852778
160SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.82520146
161TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81115049
162POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.81115049
163EZH2_22144423_ChIP-Seq_EOC_Human0.81084188
164* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.78643174
165ISL1_27105846_Chip-Seq_CPCs_Mouse0.76860317
166AR_21909140_ChIP-Seq_LNCAP_Human0.76641294
167MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.76625268
168TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.76334510
169LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.76233483
170SMAD_19615063_ChIP-ChIP_OVARY_Human0.75789966
171NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.75789941
172SOX9_26525672_Chip-Seq_HEART_Mouse0.75306502
173* TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.75075205
174WDR5_24793694_ChIP-Seq_LNCAP_Human0.75045141
175GBX2_23144817_ChIP-Seq_PC3_Human0.74851411
176* PADI4_21655091_ChIP-ChIP_MCF-7_Human0.73418965
177FOXP3_21729870_ChIP-Seq_TREG_Human0.73097874
178PU_27001747_Chip-Seq_BMDM_Mouse0.72469469
179ERG_20887958_ChIP-Seq_HPC-7_Mouse0.72337023

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue3.82253525
2MP0010094_abnormal_chromosome_stability3.15845372
3MP0004043_abnormal_pH_regulation3.15482512
4MP0000569_abnormal_digit_pigmentation2.97222271
5MP0002396_abnormal_hematopoietic_system2.83559365
6MP0003195_calcinosis2.82225065
7MP0003787_abnormal_imprinting2.76142761
8MP0008057_abnormal_DNA_replication2.74694757
9MP0008877_abnormal_DNA_methylation2.61960753
10MP0003136_yellow_coat_color2.61083193
11MP0003763_abnormal_thymus_physiology2.55538741
12MP0003111_abnormal_nucleus_morphology2.47220419
13MP0005551_abnormal_eye_electrophysiolog2.34544895
14MP0006292_abnormal_olfactory_placode2.33352050
15MP0009046_muscle_twitch2.31050066
16MP0004808_abnormal_hematopoietic_stem2.30597333
17MP0000427_abnormal_hair_cycle2.23227670
18MP0003693_abnormal_embryo_hatching2.22933797
19MP0001986_abnormal_taste_sensitivity2.22025815
20MP0004142_abnormal_muscle_tone2.19709889
21MP0003077_abnormal_cell_cycle2.12108442
22MP0003121_genomic_imprinting2.08822213
23MP0008058_abnormal_DNA_repair2.08583384
24MP0004130_abnormal_muscle_cell2.04268612
25MP0005174_abnormal_tail_pigmentation1.96198687
26MP0002398_abnormal_bone_marrow1.93785124
27MP0000703_abnormal_thymus_morphology1.92652025
28MP0000566_synostosis1.88602530
29MP0001485_abnormal_pinna_reflex1.87375611
30MP0001968_abnormal_touch/_nociception1.82035796
31MP0002234_abnormal_pharynx_morphology1.81692295
32MP0001800_abnormal_humoral_immune1.81387676
33MP0002876_abnormal_thyroid_physiology1.80109268
34MP0001501_abnormal_sleep_pattern1.78358429
35MP0004885_abnormal_endolymph1.78020188
36MP0005671_abnormal_response_to1.77083127
37MP0009745_abnormal_behavioral_response1.75802957
38MP0004133_heterotaxia1.73206790
39MP0003878_abnormal_ear_physiology1.69683271
40MP0005377_hearing/vestibular/ear_phenot1.69683271
41MP0006276_abnormal_autonomic_nervous1.66828762
42MP0000383_abnormal_hair_follicle1.65917262
43MP0003300_gastrointestinal_ulcer1.64898101
44MP0008875_abnormal_xenobiotic_pharmacok1.63727317
45MP0005083_abnormal_biliary_tract1.63216609
46MP0005409_darkened_coat_color1.60782656
47MP0002638_abnormal_pupillary_reflex1.60657572
48MP0008872_abnormal_physiological_respon1.60616870
49MP0008789_abnormal_olfactory_epithelium1.56607623
50MP0009278_abnormal_bone_marrow1.56039386
51MP0000015_abnormal_ear_pigmentation1.53425593
52MP0008007_abnormal_cellular_replicative1.53331820
53MP0002735_abnormal_chemical_nociception1.51795587
54MP0005423_abnormal_somatic_nervous1.50522193
55MP0005387_immune_system_phenotype1.45147481
56MP0001790_abnormal_immune_system1.45147481
57MP0004145_abnormal_muscle_electrophysio1.44255672
58MP0004742_abnormal_vestibular_system1.43780680
59MP0002272_abnormal_nervous_system1.41750870
60MP0000716_abnormal_immune_system1.41508182
61MP0002420_abnormal_adaptive_immunity1.40070940
62MP0000490_abnormal_crypts_of1.38889719
63MP0010307_abnormal_tumor_latency1.38412984
64MP0002722_abnormal_immune_system1.38018188
65MP0002733_abnormal_thermal_nociception1.37513442
66MP0001819_abnormal_immune_cell1.37160329
67MP0001835_abnormal_antigen_presentation1.36792938
68MP0003943_abnormal_hepatobiliary_system1.36426373
69MP0002095_abnormal_skin_pigmentation1.34739382
70MP0002572_abnormal_emotion/affect_behav1.34692192
71MP0001970_abnormal_pain_threshold1.34485589
72MP0002452_abnormal_antigen_presenting1.33945601
73MP0002009_preneoplasia1.33843698
74MP0000689_abnormal_spleen_morphology1.33021818
75MP0002557_abnormal_social/conspecific_i1.31383414
76MP0005394_taste/olfaction_phenotype1.30556300
77MP0005499_abnormal_olfactory_system1.30556300
78MP0000685_abnormal_immune_system1.30407877
79MP0002064_seizures1.29356626
80MP0002723_abnormal_immune_serum1.29276767
81MP0002067_abnormal_sensory_capabilities1.26663820
82MP0003879_abnormal_hair_cell1.25459786
83MP0002429_abnormal_blood_cell1.23907246
84MP0001270_distended_abdomen1.22473845
85MP0005310_abnormal_salivary_gland1.21536105
86MP0003890_abnormal_embryonic-extraembry1.21366694
87MP0005253_abnormal_eye_physiology1.20853265
88MP0001486_abnormal_startle_reflex1.16774467
89MP0002166_altered_tumor_susceptibility1.16391664
90MP0002063_abnormal_learning/memory/cond1.15743049
91MP0003045_fibrosis1.15399385
92MP0000350_abnormal_cell_proliferation1.14740697
93MP0001873_stomach_inflammation1.13608169
94MP0005076_abnormal_cell_differentiation1.13540937
95MP0001545_abnormal_hematopoietic_system1.12387920
96MP0005397_hematopoietic_system_phenotyp1.12387920
97MP0000465_gastrointestinal_hemorrhage1.11002265
98MP0003635_abnormal_synaptic_transmissio1.09293668
99MP0010352_gastrointestinal_tract_polyps1.08329190
100MP0005195_abnormal_posterior_eye1.08304909
101MP0005645_abnormal_hypothalamus_physiol1.07480939
102MP0000230_abnormal_systemic_arterial1.07467858
103MP0001502_abnormal_circadian_rhythm1.07444160
104MP0003115_abnormal_respiratory_system1.06444276
105MP0002102_abnormal_ear_morphology1.06271722
106MP0002405_respiratory_system_inflammati1.04982232
107MP0000049_abnormal_middle_ear1.04067892
108MP0004957_abnormal_blastocyst_morpholog1.03809257
109MP0002160_abnormal_reproductive_system1.03601745
110MP0005000_abnormal_immune_tolerance1.01178695
111MP0003935_abnormal_craniofacial_develop1.00477860
112MP0003950_abnormal_plasma_membrane1.00398286
113MP0002210_abnormal_sex_determination0.99682735
114MP0002006_tumorigenesis0.99566407
115MP0002075_abnormal_coat/hair_pigmentati0.99128782
116MP0000778_abnormal_nervous_system0.98941970
117MP0000470_abnormal_stomach_morphology0.98735857
118MP0005386_behavior/neurological_phenoty0.97956086
119MP0004924_abnormal_behavior0.97956086
120MP0004147_increased_porphyrin_level0.97925256
121MP0001929_abnormal_gametogenesis0.97705756
122MP0001324_abnormal_eye_pigmentation0.96883379
123MP0005266_abnormal_metabolism0.95874629
124MP0002019_abnormal_tumor_incidence0.95660837
125MP0008961_abnormal_basal_metabolism0.95291411
126MP0003866_abnormal_defecation0.94795213
127* MP0002084_abnormal_developmental_patter0.93721824
128MP0002928_abnormal_bile_duct0.92440916
129MP0002653_abnormal_ependyma_morphology0.92237792
130MP0004381_abnormal_hair_follicle0.91376616
131MP0000026_abnormal_inner_ear0.90902422
132MP0000955_abnormal_spinal_cord0.90837665
133* MP0002085_abnormal_embryonic_tissue0.90496137
134MP0005389_reproductive_system_phenotype0.90135027
135MP0002752_abnormal_somatic_nervous0.89950375
136MP0003119_abnormal_digestive_system0.89436275
137MP0003718_maternal_effect0.89102135
138MP0005410_abnormal_fertilization0.88077683
139MP0005646_abnormal_pituitary_gland0.87771426
140MP0002736_abnormal_nociception_after0.87302336
141MP0010386_abnormal_urinary_bladder0.87250644
142MP0002229_neurodegeneration0.86700498
143MP0001672_abnormal_embryogenesis/_devel0.86530088
144MP0005380_embryogenesis_phenotype0.86530088
145MP0002882_abnormal_neuron_morphology0.85619048
146MP0003937_abnormal_limbs/digits/tail_de0.84636026
147MP0002734_abnormal_mechanical_nocicepti0.84003920
148MP0000538_abnormal_urinary_bladder0.83905386
149MP0010155_abnormal_intestine_physiology0.83524183
150MP0003283_abnormal_digestive_organ0.82875694
151MP0000372_irregular_coat_pigmentation0.82410070
152MP0005448_abnormal_energy_balance0.81686659
153MP0000631_abnormal_neuroendocrine_gland0.81445893
154MP0000678_abnormal_parathyroid_gland0.80582065
155MP0002184_abnormal_innervation0.80472381
156MP0001963_abnormal_hearing_physiology0.80194526
157MP0004197_abnormal_fetal_growth/weight/0.79868430
158MP0005167_abnormal_blood-brain_barrier0.79306587
159MP0003984_embryonic_growth_retardation0.79025695
160MP0000313_abnormal_cell_death0.78492043
161MP0002837_dystrophic_cardiac_calcinosis0.78416135
162MP0002168_other_aberrant_phenotype0.78097861
163MP0001697_abnormal_embryo_size0.77977049
164MP0001145_abnormal_male_reproductive0.77892553
165MP0002938_white_spotting0.77808311
166MP0006054_spinal_hemorrhage0.77251496
167MP0002088_abnormal_embryonic_growth/wei0.76859922
168MP0008995_early_reproductive_senescence0.76800484
169MP0000653_abnormal_sex_gland0.76411276
170MP0003122_maternal_imprinting0.76074040
171MP0001186_pigmentation_phenotype0.75876937
172* MP0003861_abnormal_nervous_system0.74581905
173MP0005464_abnormal_platelet_physiology0.73679727
174MP0003698_abnormal_male_reproductive0.73655007
175MP0001730_embryonic_growth_arrest0.73224085
176MP0001188_hyperpigmentation0.72950008
177MP0003252_abnormal_bile_duct0.72026652

Predicted human phenotypes

RankGene SetZ-score
1Genetic anticipation (HP:0003743)5.14287626
2Abnormality of the fingertips (HP:0001211)4.68052098
3Pancreatic cysts (HP:0001737)4.50395521
4Congenital stationary night blindness (HP:0007642)4.11506284
5Volvulus (HP:0002580)3.89765390
6True hermaphroditism (HP:0010459)3.76444389
7Progressive cerebellar ataxia (HP:0002073)3.69988718
8Hyperventilation (HP:0002883)3.67175545
9Nephronophthisis (HP:0000090)3.64775664
10Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.47809251
11Chronic hepatic failure (HP:0100626)3.46397186
12Protruding tongue (HP:0010808)3.31800131
13Tubular atrophy (HP:0000092)3.31023005
14Patellar aplasia (HP:0006443)3.25338217
15Clumsiness (HP:0002312)3.22480757
16Attenuation of retinal blood vessels (HP:0007843)3.18156275
17Aplasia/Hypoplasia of the patella (HP:0006498)3.02819904
18Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.98953462
19Abnormality of alanine metabolism (HP:0010916)2.98953462
20Hyperalaninemia (HP:0003348)2.98953462
21Chromsome breakage (HP:0040012)2.97739469
22* Abnormality of midbrain morphology (HP:0002418)2.96727493
23* Molar tooth sign on MRI (HP:0002419)2.96727493
24Abnormality of the renal cortex (HP:0011035)2.94131118
25Deep philtrum (HP:0002002)2.91442196
26Gaze-evoked nystagmus (HP:0000640)2.89725447
27Decreased circulating renin level (HP:0003351)2.84340335
28Agammaglobulinemia (HP:0004432)2.84126756
29Chromosomal breakage induced by crosslinking agents (HP:0003221)2.83077234
30Increased neuronal autofluorescent lipopigment (HP:0002074)2.76733450
31Polydipsia (HP:0001959)2.72068623
32Abnormal drinking behavior (HP:0030082)2.72068623
33Ectopic kidney (HP:0000086)2.71608282
34Breast hypoplasia (HP:0003187)2.67469514
35Abnormal respiratory epithelium morphology (HP:0012253)2.66308882
36Abnormal respiratory motile cilium morphology (HP:0005938)2.66308882
37Long eyelashes (HP:0000527)2.64744923
38Type II lissencephaly (HP:0007260)2.63423467
39Concave nail (HP:0001598)2.60069967
40Large for gestational age (HP:0001520)2.58889572
41T lymphocytopenia (HP:0005403)2.54762638
42Panhypogammaglobulinemia (HP:0003139)2.54712227
43Abnormality of the renal collecting system (HP:0004742)2.50570993
44Medial flaring of the eyebrow (HP:0010747)2.48010267
45Increased nuchal translucency (HP:0010880)2.47905697
46B lymphocytopenia (HP:0010976)2.45055229
47Abnormality of B cell number (HP:0010975)2.45055229
48Bony spicule pigmentary retinopathy (HP:0007737)2.44852141
49Medulloblastoma (HP:0002885)2.44465058
50Recurrent viral infections (HP:0004429)2.43571636
51Partial agenesis of the corpus callosum (HP:0001338)2.42989543
52Acute myeloid leukemia (HP:0004808)2.42597987
53Inability to walk (HP:0002540)2.42046746
54IgM deficiency (HP:0002850)2.41431863
55Lip pit (HP:0100267)2.38683776
56Abnormal delayed hypersensitivity skin test (HP:0002963)2.34338821
57Duplicated collecting system (HP:0000081)2.32407827
58Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.32316567
59Hypoplastic ischia (HP:0003175)2.31025296
60Short 4th metacarpal (HP:0010044)2.29671046
61Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.29671046
62Decreased central vision (HP:0007663)2.29405604
63Broad-based gait (HP:0002136)2.27152912
64Truncal obesity (HP:0001956)2.26851988
65Abnormality of T cell number (HP:0011839)2.25844462
66Cerebellar dysplasia (HP:0007033)2.24715594
67Recurrent bronchitis (HP:0002837)2.24016121
68Abnormality of chromosome stability (HP:0003220)2.23518916
69Furrowed tongue (HP:0000221)2.21543510
70Inflammation of the large intestine (HP:0002037)2.19546872
71Abnormality of the intervertebral disk (HP:0005108)2.19519874
72Acute lymphatic leukemia (HP:0006721)2.19502953
73Gait imbalance (HP:0002141)2.19461277
74Neoplasm of the oral cavity (HP:0100649)2.19140031
75Sclerocornea (HP:0000647)2.18492781
76Fair hair (HP:0002286)2.17396760
77Absent rod-and cone-mediated responses on ERG (HP:0007688)2.15779281
78Congenital hepatic fibrosis (HP:0002612)2.15522771
79Anencephaly (HP:0002323)2.15253254
80Abnormality of DNA repair (HP:0003254)2.15206422
81Polyuria (HP:0000103)2.15121074
82Abolished electroretinogram (ERG) (HP:0000550)2.13809480
83Gastrointestinal inflammation (HP:0004386)2.13669938
84Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.12436922
85Progressive inability to walk (HP:0002505)2.10342135
86Aplasia/Hypoplasia of the tibia (HP:0005772)2.10089308
87Pendular nystagmus (HP:0012043)2.09726396
88Lissencephaly (HP:0001339)2.08286861
89Abnormal rod and cone electroretinograms (HP:0008323)2.08100908
90Poor coordination (HP:0002370)2.08050994
91Congenital primary aphakia (HP:0007707)2.07274233
92Thyroiditis (HP:0100646)2.05532544
93Anal stenosis (HP:0002025)2.04515228
94Chronic diarrhea (HP:0002028)2.01943786
95Obsessive-compulsive behavior (HP:0000722)2.01676477
96Hyperacusis (HP:0010780)2.00714686
97Hypoplasia of the pons (HP:0012110)2.00161601
98Long clavicles (HP:0000890)1.99823068
99Absent/shortened dynein arms (HP:0200106)1.97571312
100Dynein arm defect of respiratory motile cilia (HP:0012255)1.97571312
101Abnormality of the pons (HP:0007361)1.97310680
102Aplasia/Hypoplasia of the tongue (HP:0010295)1.94879936
103Ependymoma (HP:0002888)1.94803936
104Chorioretinal atrophy (HP:0000533)1.93990761
105Abnormality of the ischium (HP:0003174)1.92978070
106Heterotopia (HP:0002282)1.92725841
107Recurrent sinusitis (HP:0011108)1.92687185
108Febrile seizures (HP:0002373)1.92602646
109Increased cerebral lipofuscin (HP:0011813)1.91465725
110Recurrent fungal infections (HP:0002841)1.90673434
111Macroorchidism (HP:0000053)1.90525052
112Keratoconus (HP:0000563)1.89950793
113Increased corneal curvature (HP:0100692)1.89950793
114Overlapping toe (HP:0001845)1.88387441
115Nephrogenic diabetes insipidus (HP:0009806)1.87742828
116Bronchiectasis (HP:0002110)1.87710816
117Myelodysplasia (HP:0002863)1.87338085
118Birth length less than 3rd percentile (HP:0003561)1.86740371
119Abnormality of renin-angiotensin system (HP:0000847)1.86070880
120Bulbous nose (HP:0000414)1.85252946
121Widely spaced teeth (HP:0000687)1.85036401
122Hyperkalemia (HP:0002153)1.84760353
123Cellulitis (HP:0100658)1.84551822
124Generalized hypopigmentation of hair (HP:0011358)1.84007460
125Hypoplastic iliac wings (HP:0002866)1.83526330
126Abnormality of T cells (HP:0002843)1.83260357
127Aplasia/Hypoplasia of the uvula (HP:0010293)1.83080227
128Decreased electroretinogram (ERG) amplitude (HP:0000654)1.82775779
129Abnormality of binocular vision (HP:0011514)1.80940798
130Diplopia (HP:0000651)1.80940798
131Tented upper lip vermilion (HP:0010804)1.80490289
132Cutis marmorata (HP:0000965)1.80459061
133Congenital sensorineural hearing impairment (HP:0008527)1.80207256
134Tachypnea (HP:0002789)1.79976304
135Proximal placement of thumb (HP:0009623)1.79285541
136Meningitis (HP:0001287)1.79283940
137Bronchitis (HP:0012387)1.78080523
138Abnormality of the nasal septum (HP:0000419)1.78041053
139Abnormality of the carotid arteries (HP:0005344)1.77936916
140Prominent nose (HP:0000448)1.77431413
141Pancreatic fibrosis (HP:0100732)1.76467259
142Colitis (HP:0002583)1.75988725
143Severe muscular hypotonia (HP:0006829)1.74528409
144Cystic liver disease (HP:0006706)1.74411454
145Small hand (HP:0200055)1.74295657
146Elfin facies (HP:0004428)1.74075051
147Lymphoma (HP:0002665)1.73655648
148Impaired smooth pursuit (HP:0007772)1.73264764
149Postaxial foot polydactyly (HP:0001830)1.72895594
150Abnormal respiratory motile cilium physiology (HP:0012261)1.72676565
151* Trigonocephaly (HP:0000243)1.72599165
152Lymphopenia (HP:0001888)1.72435764
153Genital tract atresia (HP:0001827)1.71427952
154Highly arched eyebrow (HP:0002553)1.71132568
155Macroglossia (HP:0000158)1.70882685
156Recurrent otitis media (HP:0000403)1.70600250
157Clubbing of toes (HP:0100760)1.70124479
158Basal cell carcinoma (HP:0002671)1.68670672
159Deviation of the thumb (HP:0009603)1.68014407
160Urethral obstruction (HP:0000796)1.66917578
161Limited elbow extension (HP:0001377)1.66297494
162Osteomalacia (HP:0002749)1.64203264
163Abnormality of chromosome segregation (HP:0002916)1.64103003
164Renovascular hypertension (HP:0100817)1.63678569
165Chronic sinusitis (HP:0011109)1.62549467
166Chronic otitis media (HP:0000389)1.61366436
167Abnormality of cells of the lymphoid lineage (HP:0012140)1.61067356
168Amaurosis fugax (HP:0100576)1.60262404
169Prolonged bleeding time (HP:0003010)1.60135770
170Absent frontal sinuses (HP:0002688)1.59287183
171Tubulointerstitial nephritis (HP:0001970)1.58415386
172Abnormality of the preputium (HP:0100587)1.58221912
173Nasal polyposis (HP:0100582)1.56586312
174Abnormality of the renal medulla (HP:0100957)1.55084581
175Optic nerve coloboma (HP:0000588)1.54874665
176Retrobulbar optic neuritis (HP:0100654)1.54848935
177Optic neuritis (HP:0100653)1.54848935
178Severe combined immunodeficiency (HP:0004430)1.54651595
179Overriding aorta (HP:0002623)1.54321271
180Tapered finger (HP:0001182)1.53834518
181Abnormal ciliary motility (HP:0012262)1.52373700
182Intestinal atresia (HP:0011100)1.51730271
183Hypoplasia of the thymus (HP:0000778)1.51645272
184Thick eyebrow (HP:0000574)1.51625452
185Smooth philtrum (HP:0000319)1.51582578
186Rhinitis (HP:0012384)1.51130552
187Recurrent cutaneous fungal infections (HP:0011370)1.50612178

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.23075370
2CDC73.95609833
3EEF2K3.72841292
4BMPR1B3.68053419
5CDK123.67304049
6MAP4K13.44356353
7WNK43.22828300
8BRD43.16010464
9MAP3K102.95954384
10ADRBK22.86983812
11NEK22.68764172
12MAP3K132.29656827
13TXK2.28420793
14TLK12.20019224
15ZAK2.08380459
16MKNK22.03831369
17GRK12.03763165
18PASK1.99677151
19TAOK31.81530603
20JAK31.75856716
21ATR1.61239611
22CDK81.59238315
23SIK21.56114678
24BTK1.55759485
25STK101.54463247
26CDK41.52630195
27MKNK11.48728203
28DAPK21.48338382
29ADRBK11.47878516
30HIPK21.47733199
31CLK11.47118489
32AKT31.46036250
33BLK1.45704539
34STK391.42158876
35CDK91.33097097
36CAMK1G1.29798998
37WNK11.27145458
38INSRR1.26066708
39NTRK31.23129063
40CHEK21.21018662
41CAMK1D1.19434351
42NLK1.17531427
43LATS11.17225653
44STK41.11679534
45ITK1.11040242
46CAMKK21.09872114
47ICK1.07051620
48MELK1.06087010
49CHEK11.05531818
50OXSR11.05341541
51RPS6KB21.04224465
52CAMKK11.02377740
53CDK71.02302669
54TNK21.01860932
55CASK0.99512628
56PINK10.99458936
57TEC0.97962629
58CDK60.97724990
59ATM0.97723665
60CDK30.97292687
61TRIB30.96979165
62SRPK10.96433404
63SYK0.95679525
64FGFR30.92436108
65MAP3K140.92335901
66PRKD20.92161360
67MAPKAPK30.92064400
68TTK0.90484061
69PTK2B0.89047904
70STK30.88406086
71KIT0.88290260
72CSF1R0.84036231
73CAMK10.83447375
74WNK30.82667048
75HCK0.80551666
76IRAK40.79424233
77PLK40.79350139
78TRPM70.79326052
79JAK10.79228912
80PNCK0.79227138
81PIK3CA0.79028292
82MTOR0.79021856
83STK110.77475832
84STK380.77215390
85ZAP700.76234042
86PRKAA20.75926311
87PRKAA10.75701651
88RPS6KA50.75537121
89SGK20.74553049
90CHUK0.74132992
91TNIK0.73591583
92GRK60.73529883
93DYRK30.72745135
94SGK30.72310053
95PIM10.70778274
96MUSK0.70527561
97MAP3K40.70471520
98TYRO30.70262475
99CDK20.69848837
100EPHA30.68553030
101PKN10.67374523
102MAPK140.66975406
103LCK0.66433755
104AURKB0.65925864
105CAMK40.64580417
106RPS6KA60.63923136
107STK38L0.62908393
108TGFBR10.61450091
109CDC42BPA0.61418431
110MAP4K20.60648968
111ERBB20.60252458
112CDK10.59143205
113PRKCG0.58779093
114MAP3K70.58607061
115EPHB10.58190685
116IRAK10.57671628
117PRKCH0.56930805
118MARK30.56624741
119MAPK110.56337038
120PIK3CG0.55973244
121NUAK10.55348105
122MAP2K10.55118264
123SGK4940.54306549
124SGK2230.54306549
125PAK30.54177448
126NTRK20.53793957
127RPS6KB10.52595504
128PLK10.49936002
129MAP2K20.49618182
130BRSK20.48800625
131MAPK130.48776659
132FES0.48685101
133YES10.48545520
134LYN0.48347133
135MARK10.48200968
136ACVR1B0.47980834
137GSK3B0.47499880
138MAPK150.47305505
139PRKCQ0.47090164
140MET0.46350171
141PRKDC0.45531376
142AKT10.45103033
143MAPKAPK50.45039735
144FGFR40.44659305
145PTK60.43875408
146CSNK1D0.43446751
147CCNB10.43188558
148MAPK10.42997389
149MARK20.42927557
150FLT30.42612239
151PRKCZ0.40286700
152PRKCE0.39943568
153VRK10.39921859
154IKBKB0.39161379
155SGK10.38468052
156MAP2K60.38139496
157PDGFRB0.35951203
158MAPK80.31788995

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.91472985
2alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.74158329
3Linoleic acid metabolism_Homo sapiens_hsa005912.73106564
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.70630734
5Nitrogen metabolism_Homo sapiens_hsa009102.55571833
6Primary immunodeficiency_Homo sapiens_hsa053402.41525233
7Nicotine addiction_Homo sapiens_hsa050332.33832017
8Non-homologous end-joining_Homo sapiens_hsa034502.26921325
9Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.12641869
10ABC transporters_Homo sapiens_hsa020102.11988896
11DNA replication_Homo sapiens_hsa030302.10423218
12Mismatch repair_Homo sapiens_hsa034302.04511085
13Fanconi anemia pathway_Homo sapiens_hsa034602.00652168
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.95150264
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.94507171
16Taste transduction_Homo sapiens_hsa047421.91800951
17Cell cycle_Homo sapiens_hsa041101.90170092
18B cell receptor signaling pathway_Homo sapiens_hsa046621.82211599
19Morphine addiction_Homo sapiens_hsa050321.79248477
20Butanoate metabolism_Homo sapiens_hsa006501.78636367
21Ether lipid metabolism_Homo sapiens_hsa005651.78439480
22mRNA surveillance pathway_Homo sapiens_hsa030151.76570055
23Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.70439339
24Selenocompound metabolism_Homo sapiens_hsa004501.68724168
25Base excision repair_Homo sapiens_hsa034101.67058084
26Homologous recombination_Homo sapiens_hsa034401.60713237
27Spliceosome_Homo sapiens_hsa030401.52740056
28Olfactory transduction_Homo sapiens_hsa047401.49825285
29T cell receptor signaling pathway_Homo sapiens_hsa046601.49240207
30Chronic myeloid leukemia_Homo sapiens_hsa052201.49144721
31Tryptophan metabolism_Homo sapiens_hsa003801.46215703
32Ovarian steroidogenesis_Homo sapiens_hsa049131.45207522
33NF-kappa B signaling pathway_Homo sapiens_hsa040641.43547935
34Transcriptional misregulation in cancer_Homo sapiens_hsa052021.42117884
35Measles_Homo sapiens_hsa051621.41994809
36Notch signaling pathway_Homo sapiens_hsa043301.41168012
37RNA degradation_Homo sapiens_hsa030181.38931373
38Lysine degradation_Homo sapiens_hsa003101.38456466
39Glutamatergic synapse_Homo sapiens_hsa047241.38132276
40Herpes simplex infection_Homo sapiens_hsa051681.36983546
41Circadian entrainment_Homo sapiens_hsa047131.34438491
42MicroRNAs in cancer_Homo sapiens_hsa052061.31476384
43Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.30009999
44Serotonergic synapse_Homo sapiens_hsa047261.29767365
45Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.28040277
46Intestinal immune network for IgA production_Homo sapiens_hsa046721.26156694
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.23641692
48Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.22726996
49Hematopoietic cell lineage_Homo sapiens_hsa046401.22314004
50Fatty acid biosynthesis_Homo sapiens_hsa000611.21141504
51Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.19140369
52Colorectal cancer_Homo sapiens_hsa052101.18961292
53HTLV-I infection_Homo sapiens_hsa051661.18481410
54Pancreatic cancer_Homo sapiens_hsa052121.18416675
55Nucleotide excision repair_Homo sapiens_hsa034201.14356584
56Histidine metabolism_Homo sapiens_hsa003401.14283287
57Vascular smooth muscle contraction_Homo sapiens_hsa042701.14208562
58Basal transcription factors_Homo sapiens_hsa030221.12893127
59Non-small cell lung cancer_Homo sapiens_hsa052231.11290837
60Acute myeloid leukemia_Homo sapiens_hsa052211.10340817
61Antigen processing and presentation_Homo sapiens_hsa046121.09869966
62GABAergic synapse_Homo sapiens_hsa047271.09393937
63Calcium signaling pathway_Homo sapiens_hsa040201.07905575
64Type II diabetes mellitus_Homo sapiens_hsa049301.07177168
65Caffeine metabolism_Homo sapiens_hsa002321.07045972
66Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06895386
67Jak-STAT signaling pathway_Homo sapiens_hsa046301.06485353
68RNA transport_Homo sapiens_hsa030131.06137990
69Hepatitis B_Homo sapiens_hsa051611.06109088
70Steroid hormone biosynthesis_Homo sapiens_hsa001401.05859176
71Cholinergic synapse_Homo sapiens_hsa047251.05737988
72Osteoclast differentiation_Homo sapiens_hsa043801.04026701
73Inositol phosphate metabolism_Homo sapiens_hsa005621.02142330
74Glycerolipid metabolism_Homo sapiens_hsa005611.00813981
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.99965384
76Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.99300041
77Viral carcinogenesis_Homo sapiens_hsa052030.97463727
78Arachidonic acid metabolism_Homo sapiens_hsa005900.95895692
79Dorso-ventral axis formation_Homo sapiens_hsa043200.95254985
80Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.94859093
81Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.92830931
82p53 signaling pathway_Homo sapiens_hsa041150.91727655
83Salivary secretion_Homo sapiens_hsa049700.91560701
84Prostate cancer_Homo sapiens_hsa052150.91175993
85Small cell lung cancer_Homo sapiens_hsa052220.85618451
86Chemokine signaling pathway_Homo sapiens_hsa040620.84478347
87Aldosterone synthesis and secretion_Homo sapiens_hsa049250.84109067
88mTOR signaling pathway_Homo sapiens_hsa041500.83612600
89Endometrial cancer_Homo sapiens_hsa052130.83515328
90Carbohydrate digestion and absorption_Homo sapiens_hsa049730.83363944
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.82098022
92Long-term depression_Homo sapiens_hsa047300.81943739
93Prolactin signaling pathway_Homo sapiens_hsa049170.81773430
94Platelet activation_Homo sapiens_hsa046110.80850835
95FoxO signaling pathway_Homo sapiens_hsa040680.80527900
96Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.80232965
97Oxytocin signaling pathway_Homo sapiens_hsa049210.79479840
98Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.79399671
99Influenza A_Homo sapiens_hsa051640.78774380
100Toxoplasmosis_Homo sapiens_hsa051450.78561539
101Neurotrophin signaling pathway_Homo sapiens_hsa047220.78531810
102TNF signaling pathway_Homo sapiens_hsa046680.78169549
103Regulation of autophagy_Homo sapiens_hsa041400.77318228
104Autoimmune thyroid disease_Homo sapiens_hsa053200.75165616
105Sulfur relay system_Homo sapiens_hsa041220.74217199
106Epstein-Barr virus infection_Homo sapiens_hsa051690.73902776
107cAMP signaling pathway_Homo sapiens_hsa040240.73464100
108Chemical carcinogenesis_Homo sapiens_hsa052040.72489498
109Gastric acid secretion_Homo sapiens_hsa049710.71521043
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.71202377
111Glycerophospholipid metabolism_Homo sapiens_hsa005640.68297695
112MAPK signaling pathway_Homo sapiens_hsa040100.68182368
113Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.67757504
114Circadian rhythm_Homo sapiens_hsa047100.66837932
115Pathways in cancer_Homo sapiens_hsa052000.66685670
116Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.66260241
117Toll-like receptor signaling pathway_Homo sapiens_hsa046200.63771360
118Systemic lupus erythematosus_Homo sapiens_hsa053220.63683685
119RNA polymerase_Homo sapiens_hsa030200.63660678
120Leishmaniasis_Homo sapiens_hsa051400.63352520
121Leukocyte transendothelial migration_Homo sapiens_hsa046700.63083408
122Wnt signaling pathway_Homo sapiens_hsa043100.62642895
123Primary bile acid biosynthesis_Homo sapiens_hsa001200.61036164
124Glioma_Homo sapiens_hsa052140.60887500
125Basal cell carcinoma_Homo sapiens_hsa052170.60780059
126Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.60641959
127Apoptosis_Homo sapiens_hsa042100.60558466
128Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.60506544
129beta-Alanine metabolism_Homo sapiens_hsa004100.60121510
130Choline metabolism in cancer_Homo sapiens_hsa052310.59981580
131Hedgehog signaling pathway_Homo sapiens_hsa043400.57632566
132cGMP-PKG signaling pathway_Homo sapiens_hsa040220.57529926
133One carbon pool by folate_Homo sapiens_hsa006700.57421559
134NOD-like receptor signaling pathway_Homo sapiens_hsa046210.57391105
135Viral myocarditis_Homo sapiens_hsa054160.56833317
136Dopaminergic synapse_Homo sapiens_hsa047280.56820796
137Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.56613342
138Retinol metabolism_Homo sapiens_hsa008300.56398645
139Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.56390376
140Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.55606084
141Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.55558085
142AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.53938119
143Adherens junction_Homo sapiens_hsa045200.53535984
144Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52167148
145Alcoholism_Homo sapiens_hsa050340.51844716
146Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.51157342
147Phototransduction_Homo sapiens_hsa047440.50760475
148Maturity onset diabetes of the young_Homo sapiens_hsa049500.50716095
149Oocyte meiosis_Homo sapiens_hsa041140.50586918
150Melanoma_Homo sapiens_hsa052180.48433008
151ErbB signaling pathway_Homo sapiens_hsa040120.47944612
152Sphingolipid metabolism_Homo sapiens_hsa006000.47805144
153Bile secretion_Homo sapiens_hsa049760.47679716
154Estrogen signaling pathway_Homo sapiens_hsa049150.47259187
155Cocaine addiction_Homo sapiens_hsa050300.46755386
156Pancreatic secretion_Homo sapiens_hsa049720.46701024
157Allograft rejection_Homo sapiens_hsa053300.46038725
158Insulin resistance_Homo sapiens_hsa049310.45473091
159Insulin secretion_Homo sapiens_hsa049110.45111775
160Rap1 signaling pathway_Homo sapiens_hsa040150.44850238
161Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.44229676
162Axon guidance_Homo sapiens_hsa043600.43217528
163Ras signaling pathway_Homo sapiens_hsa040140.41623623
164Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.41324565
165Hippo signaling pathway_Homo sapiens_hsa043900.39662799
166Phospholipase D signaling pathway_Homo sapiens_hsa040720.33962408
167Cyanoamino acid metabolism_Homo sapiens_hsa004600.32950342
168Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32762631
169Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.32690673
170Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.30169168
171Peroxisome_Homo sapiens_hsa041460.28369078
172Fat digestion and absorption_Homo sapiens_hsa049750.26078361

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