COL22A1

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: COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cilium or flagellum-dependent cell motility (GO:0001539)7.15722784
2acrosome reaction (GO:0007340)6.96172219
3sperm motility (GO:0030317)6.75411903
4cell wall macromolecule catabolic process (GO:0016998)6.43791883
5cell wall macromolecule metabolic process (GO:0044036)6.43791883
6hemidesmosome assembly (GO:0031581)6.42689531
7multicellular organism reproduction (GO:0032504)6.37244726
8axonemal dynein complex assembly (GO:0070286)6.32369566
9fusion of sperm to egg plasma membrane (GO:0007342)6.31720027
10negative regulation of focal adhesion assembly (GO:0051895)6.09220472
11negative regulation of cell junction assembly (GO:1901889)6.09220472
12negative regulation of adherens junction organization (GO:1903392)6.09220472
13motile cilium assembly (GO:0044458)6.00541903
14positive regulation of astrocyte differentiation (GO:0048711)5.75519887
15acrosome assembly (GO:0001675)5.71677880
16epithelial cilium movement (GO:0003351)5.69935318
17regulation of lipoprotein metabolic process (GO:0050746)5.69657623
18regulation of cytokine production involved in inflammatory response (GO:1900015)5.54624515
19cell aggregation (GO:0098743)5.43230440
20cartilage condensation (GO:0001502)5.43230440
21sperm-egg recognition (GO:0035036)5.38629891
22glial cell migration (GO:0008347)5.29384197
23cilium movement (GO:0003341)5.25505203
24basement membrane organization (GO:0071711)5.15263861
25microtubule depolymerization (GO:0007019)5.02856949
26negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)4.93276035
27reproduction (GO:0000003)4.93111630
28plasma membrane fusion (GO:0045026)4.85756710
29axon regeneration (GO:0031103)4.82454082
30epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.75497128
31cell-cell recognition (GO:0009988)4.74337411
32spermatid development (GO:0007286)4.51444197
33male meiosis (GO:0007140)4.49594402
34piRNA metabolic process (GO:0034587)4.48301407
35cellular response to vitamin D (GO:0071305)4.38688127
36binding of sperm to zona pellucida (GO:0007339)4.37302067
37hypotonic response (GO:0006971)4.32497120
38cell-cell junction maintenance (GO:0045217)4.30649432
39endodermal cell differentiation (GO:0035987)4.20327795
40regulation of cilium movement (GO:0003352)4.12968614
41cornea development in camera-type eye (GO:0061303)4.11018124
42cell junction maintenance (GO:0034331)4.06358673
43single fertilization (GO:0007338)4.03059915
44sperm capacitation (GO:0048240)3.95897838
45regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)3.93068858
46neuron projection regeneration (GO:0031102)3.88305792
47enteric nervous system development (GO:0048484)3.85092574
48DNA methylation involved in gamete generation (GO:0043046)3.79499061
49negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.74132686
50axon development (GO:0061564)3.72028445
51regulation of response to osmotic stress (GO:0047484)3.67870247
52cardiac right ventricle morphogenesis (GO:0003215)3.66233867
53semaphorin-plexin signaling pathway (GO:0071526)3.65561284
54collagen catabolic process (GO:0030574)3.65276131
55regulation of gonadotropin secretion (GO:0032276)3.61073307
56regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.56536243
57planar cell polarity pathway involved in neural tube closure (GO:0090179)3.55769409
58ventricular system development (GO:0021591)3.50243768
59collagen metabolic process (GO:0032963)3.44630348
60neuron projection extension involved in neuron projection guidance (GO:1902284)3.43253603
61axon extension involved in axon guidance (GO:0048846)3.43253603
62positive regulation of odontogenesis (GO:0042482)3.39873585
63spermatogenesis (GO:0007283)3.38480793
64male gamete generation (GO:0048232)3.36925268
65negative regulation of chondrocyte differentiation (GO:0032331)3.36714790
66negative regulation of chemokine production (GO:0032682)3.36002974
67regulation of cardioblast differentiation (GO:0051890)3.33979215
68multicellular organismal catabolic process (GO:0044243)3.32682320
69regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.32236448
70myoblast migration (GO:0051451)3.30782267
71regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.29154684
72superoxide anion generation (GO:0042554)3.27724185
73hyperosmotic salinity response (GO:0042538)3.27176976
74cell-substrate junction assembly (GO:0007044)3.25644618
75female gonad development (GO:0008585)3.25326566
76notochord development (GO:0030903)3.24618396
77bone trabecula formation (GO:0060346)3.23830498
78hyaluronan metabolic process (GO:0030212)3.23361199
79cellular response to vitamin (GO:0071295)3.23204388
80dermatan sulfate biosynthetic process (GO:0030208)3.21510847
81desmosome organization (GO:0002934)3.20983936
82regulation of timing of cell differentiation (GO:0048505)3.19859847
83dermatan sulfate metabolic process (GO:0030205)3.19859428
84multicellular organismal macromolecule metabolic process (GO:0044259)3.19189812
85negative regulation of homotypic cell-cell adhesion (GO:0034111)3.17790836
86substrate-dependent cell migration (GO:0006929)3.16541338
87fertilization (GO:0009566)3.14098813
88bundle of His cell to Purkinje myocyte communication (GO:0086069)3.12614426
89heart valve morphogenesis (GO:0003179)3.11891364
90gamete generation (GO:0007276)3.11421449
91cellular component maintenance (GO:0043954)3.11395048
92dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.10348366
93endothelial cell morphogenesis (GO:0001886)3.09543550
94cardiac myofibril assembly (GO:0055003)3.07989151
95synaptonemal complex organization (GO:0070193)3.07132124
96extracellular matrix disassembly (GO:0022617)3.06996686
97centriole assembly (GO:0098534)3.05051412
98establishment of planar polarity (GO:0001736)3.04709525
99establishment of tissue polarity (GO:0007164)3.04709525
100Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.03260766
101chondrocyte proliferation (GO:0035988)3.03233493
102neural crest cell migration (GO:0001755)3.02335632
103mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.01253898
104cilium assembly (GO:0042384)3.01062229
105positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)2.98466978
106regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)2.98466978
107skeletal muscle adaptation (GO:0043501)2.97744721
108multicellular organismal metabolic process (GO:0044236)2.97671146
109cell volume homeostasis (GO:0006884)2.97668594
110cilium organization (GO:0044782)2.96357561
111regulation of adherens junction organization (GO:1903391)2.94815593
112endocardial cushion morphogenesis (GO:0003203)2.94368463
113left/right axis specification (GO:0070986)2.93856700
114cardiac chamber formation (GO:0003207)2.92456749
115positive regulation of myoblast differentiation (GO:0045663)2.92174596
116positive regulation of osteoblast proliferation (GO:0033690)2.91786459
117protein localization to cilium (GO:0061512)2.91782935
118myofibril assembly (GO:0030239)2.91571638
119male meiosis I (GO:0007141)2.91056570
120chondroitin sulfate catabolic process (GO:0030207)2.90387431
121regulation of establishment of planar polarity (GO:0090175)2.89343483
122peripheral nervous system development (GO:0007422)2.88144030
123cell recognition (GO:0008037)2.88000373
124regulation of cell-substrate junction assembly (GO:0090109)2.87011254
125regulation of focal adhesion assembly (GO:0051893)2.87011254
126negative regulation of cell-matrix adhesion (GO:0001953)2.86607329
127synaptonemal complex assembly (GO:0007130)2.86544961
128phosphate ion transmembrane transport (GO:0035435)2.86182573
129calcium ion-dependent exocytosis (GO:0017156)2.85672148
130negative regulation of sodium ion transport (GO:0010766)2.85602029
131RNA destabilization (GO:0050779)2.85316160
132synapsis (GO:0007129)2.85118241
133intraciliary transport (GO:0042073)2.84078172
134chondroitin sulfate biosynthetic process (GO:0030206)2.83958298
135startle response (GO:0001964)2.83146202
136digestive tract morphogenesis (GO:0048546)2.82330126
137type B pancreatic cell proliferation (GO:0044342)2.81964116
138limb bud formation (GO:0060174)2.81109902
139mesenchyme morphogenesis (GO:0072132)2.78778287
140left/right pattern formation (GO:0060972)2.77376070
141calcium ion import (GO:0070509)2.77018996
142collagen fibril organization (GO:0030199)2.76668250
143regulation of cardiac muscle cell apoptotic process (GO:0010665)2.75979109
144cellular process involved in reproduction in multicellular organism (GO:0022412)2.75874072
145face development (GO:0060324)2.75568852
146organic cation transport (GO:0015695)2.74269578
147regulation of skeletal muscle cell differentiation (GO:2001014)2.73332459
148chromosome organization involved in meiosis (GO:0070192)2.73202314
149regulation of hair follicle development (GO:0051797)2.72608735
150negative regulation of striated muscle cell apoptotic process (GO:0010664)2.71988859
151G-protein coupled receptor internalization (GO:0002031)2.71497468
152cellular response to prostaglandin stimulus (GO:0071379)2.70547114
153establishment of apical/basal cell polarity (GO:0035089)2.69924141
154endochondral ossification (GO:0001958)2.69551722
155replacement ossification (GO:0036075)2.69551722
156regulation of development, heterochronic (GO:0040034)2.69429611
157detection of molecule of bacterial origin (GO:0032490)2.68384771
158germ cell development (GO:0007281)2.68100297
159trophoblast giant cell differentiation (GO:0060707)2.67580776
160muscle filament sliding (GO:0030049)2.67457330
161daunorubicin metabolic process (GO:0044597)2.67106434
162polyketide metabolic process (GO:0030638)2.67106434
163doxorubicin metabolic process (GO:0044598)2.67106434
164sulfate transmembrane transport (GO:1902358)2.61947341
165microtubule polymerization or depolymerization (GO:0031109)2.60307544
166negative regulation of Rho protein signal transduction (GO:0035024)2.59811691
167RNA localization (GO:0006403)2.57485814
168cellular component assembly involved in morphogenesis (GO:0010927)2.55555399
169inner ear receptor stereocilium organization (GO:0060122)2.51874065
170neuronal ion channel clustering (GO:0045161)2.51038673
171negative regulation of inclusion body assembly (GO:0090084)2.49449333
172negative regulation of skeletal muscle tissue development (GO:0048642)2.48465077
173sulfate transport (GO:0008272)2.47768402
174behavioral response to pain (GO:0048266)2.47130354
175regulation of germinal center formation (GO:0002634)2.47001630
176auditory receptor cell stereocilium organization (GO:0060088)2.46524740
177response to X-ray (GO:0010165)2.44578458
178metanephric mesenchyme development (GO:0072075)2.39588042
179negative regulation of mast cell activation (GO:0033004)2.38296968
180multicellular organismal reproductive process (GO:0048609)2.38007782
181mesenchymal cell differentiation involved in kidney development (GO:0072161)2.37473042
182mesenchymal cell differentiation involved in renal system development (GO:2001012)2.37473042
183keratan sulfate catabolic process (GO:0042340)2.36788724
184regulation of non-canonical Wnt signaling pathway (GO:2000050)2.36179409
185limb development (GO:0060173)2.35613448
186appendage development (GO:0048736)2.35613448
187postsynaptic membrane organization (GO:0001941)2.35351195
188cilium morphogenesis (GO:0060271)2.34673760
189presynaptic membrane assembly (GO:0097105)2.34578522
190positive regulation of CREB transcription factor activity (GO:0032793)2.32732932
191extracellular regulation of signal transduction (GO:1900115)2.32305730
192extracellular negative regulation of signal transduction (GO:1900116)2.32305730
193axoneme assembly (GO:0035082)2.30978602
194urinary tract smooth muscle contraction (GO:0014848)2.29802787
195multicellular organismal development (GO:0007275)2.28085039
196cerebral cortex radially oriented cell migration (GO:0021799)2.27388645
197single strand break repair (GO:0000012)2.24761313
198dentate gyrus development (GO:0021542)2.24319409
199ganglion development (GO:0061548)2.24031183
200facial nerve structural organization (GO:0021612)2.23917406

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.56291968
2EZH2_22144423_ChIP-Seq_EOC_Human4.38511211
3GBX2_23144817_ChIP-Seq_PC3_Human3.41101304
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.20130922
5PCGF2_27294783_Chip-Seq_ESCs_Mouse2.65420199
6RARG_19884340_ChIP-ChIP_MEFs_Mouse2.60127444
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.59290014
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.58624631
9ZFP57_27257070_Chip-Seq_ESCs_Mouse2.57608221
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.50404935
11SUZ12_27294783_Chip-Seq_NPCs_Mouse2.31313735
12CBX2_27304074_Chip-Seq_ESCs_Mouse2.31245847
13PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.30924639
14EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.27203189
15TRIM28_21343339_ChIP-Seq_HEK293_Human2.26048544
16TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.24764394
17TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.23142249
18PCGF2_27294783_Chip-Seq_NPCs_Mouse2.17302512
19NFE2_27457419_Chip-Seq_LIVER_Mouse2.17120807
20EP300_21415370_ChIP-Seq_HL-1_Mouse2.06159645
21ERG_21242973_ChIP-ChIP_JURKAT_Human2.04224791
22NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.99151167
23WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.97312696
24TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.94623517
25BMI1_23680149_ChIP-Seq_NPCS_Mouse1.91943964
26EZH2_27294783_Chip-Seq_NPCs_Mouse1.90767094
27MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.89713461
28VDR_22108803_ChIP-Seq_LS180_Human1.85585459
29NANOG_18555785_Chip-Seq_ESCs_Mouse1.85035082
30EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.84838063
31RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.84507906
32POU3F2_20337985_ChIP-ChIP_501MEL_Human1.83621845
33BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.83495786
34SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.76604450
35P53_22387025_ChIP-Seq_ESCs_Mouse1.75502727
36RNF2_27304074_Chip-Seq_NSC_Mouse1.70753032
37SUZ12_18555785_Chip-Seq_ESCs_Mouse1.70630810
38TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.69815579
39E2F1_18555785_Chip-Seq_ESCs_Mouse1.69119261
40EZH2_27304074_Chip-Seq_ESCs_Mouse1.67677096
41ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.67080744
42TAF15_26573619_Chip-Seq_HEK293_Human1.67063807
43EED_16625203_ChIP-ChIP_MESCs_Mouse1.65963942
44STAT3_18555785_Chip-Seq_ESCs_Mouse1.65913845
45SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.64316569
46EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.63370479
47LXR_22292898_ChIP-Seq_THP-1_Human1.63006839
48CMYC_18555785_Chip-Seq_ESCs_Mouse1.61541475
49THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.61130169
50SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.60914470
51SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.60094299
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.59379852
53EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.59348828
54SOX9_24532713_ChIP-Seq_HFSC_Mouse1.59286781
55P300_18555785_Chip-Seq_ESCs_Mouse1.57323661
56P300_19829295_ChIP-Seq_ESCs_Human1.57192848
57JARID2_20064375_ChIP-Seq_MESCs_Mouse1.56066973
58NMYC_18555785_Chip-Seq_ESCs_Mouse1.53730292
59KDM2B_26808549_Chip-Seq_K562_Human1.52823490
60ESR2_21235772_ChIP-Seq_MCF-7_Human1.52609608
61TAL1_26923725_Chip-Seq_HPCs_Mouse1.52562432
62ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.52179330
63EZH2_27294783_Chip-Seq_ESCs_Mouse1.52157390
64OCT4_18555785_Chip-Seq_ESCs_Mouse1.52132161
65KDM2B_26808549_Chip-Seq_SUP-B15_Human1.50451841
66SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.50314634
67RUNX1_27457419_Chip-Seq_LIVER_Mouse1.50139020
68FUS_26573619_Chip-Seq_HEK293_Human1.49518091
69* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.49362253
70SMAD4_21799915_ChIP-Seq_A2780_Human1.46356059
71POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.45819441
72TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.45819441
73SOX2_18555785_Chip-Seq_ESCs_Mouse1.45678905
74CTBP2_25329375_ChIP-Seq_LNCAP_Human1.45589257
75SUZ12_27294783_Chip-Seq_ESCs_Mouse1.45571889
76ESR1_20079471_ChIP-ChIP_T-47D_Human1.44618787
77ESRRB_18555785_Chip-Seq_ESCs_Mouse1.43735580
78PU1_27457419_Chip-Seq_LIVER_Mouse1.43692825
79ZFP281_18757296_ChIP-ChIP_E14_Mouse1.43423925
80ZFP281_27345836_Chip-Seq_ESCs_Mouse1.43295366
81CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.43254167
82UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.43167532
83RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.42197588
84CRX_20693478_ChIP-Seq_RETINA_Mouse1.42104513
85SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.42089342
86RNF2_27304074_Chip-Seq_ESCs_Mouse1.41428512
87KLF4_18555785_Chip-Seq_ESCs_Mouse1.41427012
88ZFX_18555785_Chip-Seq_ESCs_Mouse1.40820842
89OCT4_21477851_ChIP-Seq_ESCs_Mouse1.39470950
90CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39131044
91KDM2B_26808549_Chip-Seq_REH_Human1.38255520
92CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.37953072
93KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.37928059
94TP53_23651856_ChIP-Seq_MEFs_Mouse1.37408529
95CJUN_26792858_Chip-Seq_BT549_Human1.37021372
96ISL1_27105846_Chip-Seq_CPCs_Mouse1.36790243
97ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.36588826
98ELK3_25401928_ChIP-Seq_HUVEC_Human1.33508128
99CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32678871
100CTCF_18555785_Chip-Seq_ESCs_Mouse1.32270422
101P300_27058665_Chip-Seq_ZR-75-30cells_Human1.32235195
102CTBP1_25329375_ChIP-Seq_LNCAP_Human1.31304625
103ZNF263_19887448_ChIP-Seq_K562_Human1.31210835
104CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.30556448
105TP53_22127205_ChIP-Seq_IMR90_Human1.29869700
106TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.29551153
107UBF1/2_26484160_Chip-Seq_HMECs_Human1.29544862
108TP53_16413492_ChIP-PET_HCT116_Human1.29330970
109P63_26484246_Chip-Seq_KERATINOCYTES_Human1.29049025
110* TBX20_22080862_ChIP-Seq_HEART_Mouse1.29004208
111* TBX20_22328084_ChIP-Seq_HEART_Mouse1.29004208
112IGF1R_20145208_ChIP-Seq_DFB_Human1.28779082
113MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.28739666
114ER_23166858_ChIP-Seq_MCF-7_Human1.27765162
115SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.27465677
116SMAD1_18555785_Chip-Seq_ESCs_Mouse1.27098700
117* SMAD3_21741376_ChIP-Seq_EPCs_Human1.26764313
118SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.26030852
119PIAS1_25552417_ChIP-Seq_VCAP_Human1.24986043
120UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.24092713
121SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.23343433
122EZH2_18974828_ChIP-Seq_MESCs_Mouse1.22946716
123RNF2_18974828_ChIP-Seq_MESCs_Mouse1.22946716
124NFIB_24661679_ChIP-Seq_LUNG_Mouse1.22609407
125EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.22456827
126* DROSHA_22980978_ChIP-Seq_HELA_Human1.21537075
127WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21532632
128PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.21391880
129WT1_19549856_ChIP-ChIP_CCG9911_Human1.21252111
130SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.20052207
131TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.19473732
132TP53_20018659_ChIP-ChIP_R1E_Mouse1.19245105
133TCF4_23295773_ChIP-Seq_U87_Human1.19002959
134RING1B_27294783_Chip-Seq_ESCs_Mouse1.18844434
135JARID2_20075857_ChIP-Seq_MESCs_Mouse1.18354581
136RING1B_27294783_Chip-Seq_NPCs_Mouse1.17927341
137SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.17804481
138SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.17804481
139* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15597972
140TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14302752
141MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.14259461
142RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.13486226
143* REST_21632747_ChIP-Seq_MESCs_Mouse1.12370609
144AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.11856627
145RACK7_27058665_Chip-Seq_MCF-7_Human1.11691731
146STAT3_23295773_ChIP-Seq_U87_Human1.11184993
147MTF2_20144788_ChIP-Seq_MESCs_Mouse1.11083220
148* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10818001
149* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.10387620
150AR_25329375_ChIP-Seq_VCAP_Human1.10310817
151* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09157052
152* SMAD3_21741376_ChIP-Seq_HESCs_Human1.08896981
153JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.07486709
154TP63_19390658_ChIP-ChIP_HaCaT_Human1.06747770
155ESR1_21235772_ChIP-Seq_MCF-7_Human1.06367159
156TP53_18474530_ChIP-ChIP_U2OS_Human1.05413133
157CBP_20019798_ChIP-Seq_JUKART_Human1.05005944
158IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.05005944
159POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.01492640
160CTCF_27219007_Chip-Seq_Bcells_Human1.01060532
161* SMAD4_21741376_ChIP-Seq_HESCs_Human1.00873077
162OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.00814008
163GATA1_26923725_Chip-Seq_HPCs_Mouse1.00678687
164HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.98575507
165* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.97610917
166DNAJC2_21179169_ChIP-ChIP_NT2_Human0.95515079
167TP63_22573176_ChIP-Seq_HFKS_Human0.95051487
168PPAR_26484153_Chip-Seq_NCI-H1993_Human0.94793935
169RXR_22108803_ChIP-Seq_LS180_Human0.94120926
170HIF1A_21447827_ChIP-Seq_MCF-7_Human0.93104214
171DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.92901071
172NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.92200392
173NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.88851618
174BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.88237546
175ELK4_26923725_Chip-Seq_MESODERM_Mouse0.87735190
176PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.84873808
177RUNX1_27514584_Chip-Seq_MCF-7_Human0.84528745
178STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.84065511
179ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.83878489

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.49216063
2MP0004272_abnormal_basement_membrane4.54551809
3MP0005503_abnormal_tendon_morphology4.10998912
4MP0002822_catalepsy3.95747841
5MP0005257_abnormal_intraocular_pressure3.84612295
6MP0004858_abnormal_nervous_system3.67247404
7MP0000579_abnormal_nail_morphology3.19074356
8MP0001188_hyperpigmentation2.74379753
9MP0005248_abnormal_Harderian_gland2.71467047
10MP0006292_abnormal_olfactory_placode2.66355183
11MP0003698_abnormal_male_reproductive2.63806180
12MP0010030_abnormal_orbit_morphology2.57775488
13MP0000566_synostosis2.54085791
14MP0002102_abnormal_ear_morphology2.42533029
15MP0004084_abnormal_cardiac_muscle2.27018830
16MP0003136_yellow_coat_color2.24850935
17MP0002254_reproductive_system_inflammat2.16353998
18MP0001929_abnormal_gametogenesis2.15545605
19MP0005171_absent_coat_pigmentation2.14283518
20MP0008877_abnormal_DNA_methylation2.03021916
21MP0003705_abnormal_hypodermis_morpholog2.01886338
22MP0002060_abnormal_skin_morphology2.01146090
23MP0004036_abnormal_muscle_relaxation1.96147375
24MP0003566_abnormal_cell_adhesion1.94259829
25MP0004510_myositis1.91978575
26MP0000762_abnormal_tongue_morphology1.88655639
27MP0009384_cardiac_valve_regurgitation1.85883907
28MP0003091_abnormal_cell_migration1.76478360
29MP0002089_abnormal_postnatal_growth/wei1.74379892
30MP0005645_abnormal_hypothalamus_physiol1.72736066
31MP0008058_abnormal_DNA_repair1.72553772
32MP0002210_abnormal_sex_determination1.65388360
33MP0002108_abnormal_muscle_morphology1.64036224
34MP0003941_abnormal_skin_development1.62868586
35MP0001849_ear_inflammation1.62388911
36MP0005330_cardiomyopathy1.57810591
37MP0005408_hypopigmentation1.56328543
38MP0002735_abnormal_chemical_nociception1.52494965
39MP0002277_abnormal_respiratory_mucosa1.51544052
40MP0000049_abnormal_middle_ear1.51201746
41MP0008438_abnormal_cutaneous_collagen1.50438969
42MP0004742_abnormal_vestibular_system1.47883907
43MP0003045_fibrosis1.46545303
44MP0008995_early_reproductive_senescence1.46093447
45MP0010368_abnormal_lymphatic_system1.45815903
46MP0000733_abnormal_muscle_development1.43258359
47MP0009053_abnormal_anal_canal1.41866307
48MP0005023_abnormal_wound_healing1.41128503
49MP0003279_aneurysm1.40512060
50MP0003880_abnormal_central_pattern1.40154858
51MP0005623_abnormal_meninges_morphology1.38883486
52MP0005670_abnormal_white_adipose1.37877253
53MP0003787_abnormal_imprinting1.36687335
54MP0000467_abnormal_esophagus_morphology1.35387903
55MP0000026_abnormal_inner_ear1.34485838
56MP0000537_abnormal_urethra_morphology1.33365961
57MP0000569_abnormal_digit_pigmentation1.32885587
58MP0005379_endocrine/exocrine_gland_phen1.29995775
59MP0005275_abnormal_skin_tensile1.27778422
60MP0005377_hearing/vestibular/ear_phenot1.27612373
61MP0003878_abnormal_ear_physiology1.27612373
62MP0009250_abnormal_appendicular_skeleto1.26346817
63MP0001486_abnormal_startle_reflex1.25330984
64MP0005646_abnormal_pituitary_gland1.24415242
65MP0002972_abnormal_cardiac_muscle1.23129738
66MP0002161_abnormal_fertility/fecundity1.22600265
67MP0005508_abnormal_skeleton_morphology1.22587427
68MP0001984_abnormal_olfaction1.21872384
69MP0000749_muscle_degeneration1.21532434
70MP0002751_abnormal_autonomic_nervous1.21449572
71MP0002638_abnormal_pupillary_reflex1.20922572
72MP0000534_abnormal_ureter_morphology1.19717614
73MP0001542_abnormal_bone_strength1.16562211
74MP0001958_emphysema1.16377707
75MP0002249_abnormal_larynx_morphology1.16000245
76MP0005620_abnormal_muscle_contractility1.15737618
77MP0002697_abnormal_eye_size1.15190088
78MP0000432_abnormal_head_morphology1.13268685
79MP0003634_abnormal_glial_cell1.12809267
80MP0001346_abnormal_lacrimal_gland1.12395896
81MP0001986_abnormal_taste_sensitivity1.12088521
82MP0001145_abnormal_male_reproductive1.11383269
83MP0004145_abnormal_muscle_electrophysio1.10374865
84MP0000678_abnormal_parathyroid_gland1.08364709
85MP0000631_abnormal_neuroendocrine_gland1.08272287
86MP0005075_abnormal_melanosome_morpholog1.08208977
87MP0009046_muscle_twitch1.07623844
88MP0002736_abnormal_nociception_after1.06160120
89MP0000015_abnormal_ear_pigmentation1.04810987
90MP0001963_abnormal_hearing_physiology1.04322692
91MP0003329_amyloid_beta_deposits1.03043677
92MP0006276_abnormal_autonomic_nervous1.02176982
93MP0003646_muscle_fatigue1.01429815
94MP0008775_abnormal_heart_ventricle1.01389599
95MP0002998_abnormal_bone_remodeling1.01139692
96MP0000653_abnormal_sex_gland0.99348483
97MP0002557_abnormal_social/conspecific_i0.98976414
98MP0003453_abnormal_keratinocyte_physiol0.98126277
99MP0002896_abnormal_bone_mineralization0.96974818
100MP0010386_abnormal_urinary_bladder0.95651508
101MP0000920_abnormal_myelination0.94253226
102MP0001502_abnormal_circadian_rhythm0.94193526
103MP0003755_abnormal_palate_morphology0.93712929
104MP0004134_abnormal_chest_morphology0.91028352
105MP0002116_abnormal_craniofacial_bone0.87888744
106MP0003938_abnormal_ear_development0.87545395
107MP0002938_white_spotting0.87242402
108MP0006138_congestive_heart_failure0.87239172
109MP0000778_abnormal_nervous_system0.86976079
110MP0004381_abnormal_hair_follicle0.86880578
111MP0005423_abnormal_somatic_nervous0.85998754
112MP0004859_abnormal_synaptic_plasticity0.85224678
113MP0005451_abnormal_body_composition0.85172671
114MP0003937_abnormal_limbs/digits/tail_de0.84481663
115MP0005551_abnormal_eye_electrophysiolog0.84082373
116MP0002932_abnormal_joint_morphology0.83548554
117MP0000751_myopathy0.81970304
118MP0001968_abnormal_touch/_nociception0.81851152
119MP0005595_abnormal_vascular_smooth0.81554844
120MP0000759_abnormal_skeletal_muscle0.81514860
121MP0000383_abnormal_hair_follicle0.80532085
122MP0004087_abnormal_muscle_fiber0.80053642
123MP0002067_abnormal_sensory_capabilities0.80040302
124MP0002234_abnormal_pharynx_morphology0.80010405
125MP0010678_abnormal_skin_adnexa0.79748660
126MP0002177_abnormal_outer_ear0.79531682
127MP0002163_abnormal_gland_morphology0.79420544
128MP0000428_abnormal_craniofacial_morphol0.79035215
129MP0002109_abnormal_limb_morphology0.78700749
130MP0002233_abnormal_nose_morphology0.78392428
131MP0000377_abnormal_hair_follicle0.78122541
132MP0002572_abnormal_emotion/affect_behav0.77391011
133MP0002876_abnormal_thyroid_physiology0.77290213
134MP0005253_abnormal_eye_physiology0.76783644
135MP0000767_abnormal_smooth_muscle0.76533356
136MP0009745_abnormal_behavioral_response0.76001878
137MP0005390_skeleton_phenotype0.75974584
138MP0002933_joint_inflammation0.75762602
139MP0010771_integument_phenotype0.75307405
140MP0001614_abnormal_blood_vessel0.75110811
141MP0002877_abnormal_melanocyte_morpholog0.74936045
142MP0000750_abnormal_muscle_regeneration0.74213896
143MP0003935_abnormal_craniofacial_develop0.73695651
144MP0002106_abnormal_muscle_physiology0.72905305
145MP0002925_abnormal_cardiovascular_devel0.72546957
146MP0005174_abnormal_tail_pigmentation0.72373728
147MP0001348_abnormal_lacrimal_gland0.72132054
148MP0002282_abnormal_trachea_morphology0.70582790
149MP0002098_abnormal_vibrissa_morphology0.70495356
150MP0001243_abnormal_dermal_layer0.70035065
151MP0010630_abnormal_cardiac_muscle0.69882660
152MP0000681_abnormal_thyroid_gland0.69766385
153MP0000613_abnormal_salivary_gland0.69248638
154MP0006072_abnormal_retinal_apoptosis0.68600190
155MP0004133_heterotaxia0.68484218
156MP0000462_abnormal_digestive_system0.67854124
157MP0002132_abnormal_respiratory_system0.67828810
158MP0002148_abnormal_hypersensitivity_rea0.67719644
159MP0002752_abnormal_somatic_nervous0.66745947
160MP0008260_abnormal_autophagy0.65552887
161MP0005409_darkened_coat_color0.65237602
162MP0005369_muscle_phenotype0.64969304
163MP0002115_abnormal_skeleton_extremities0.64941623
164MP0000163_abnormal_cartilage_morphology0.64567015
165MP0002160_abnormal_reproductive_system0.63981310
166MP0002184_abnormal_innervation0.63617284
167MP0001299_abnormal_eye_distance/0.63063232
168MP0003385_abnormal_body_wall0.62615770

Predicted human phenotypes

RankGene SetZ-score
1Dynein arm defect of respiratory motile cilia (HP:0012255)8.01694206
2Absent/shortened dynein arms (HP:0200106)8.01694206
3Respiratory insufficiency due to defective ciliary clearance (HP:0200073)7.51104723
4Abnormal respiratory epithelium morphology (HP:0012253)5.68567105
5Abnormal respiratory motile cilium morphology (HP:0005938)5.68567105
6Abnormal respiratory motile cilium physiology (HP:0012261)5.66241392
7Abnormal ciliary motility (HP:0012262)5.41254606
8Chromosomal breakage induced by crosslinking agents (HP:0003221)5.11656426
9Epiphyseal dysplasia (HP:0002656)4.90517733
10Chromsome breakage (HP:0040012)4.35324170
11Hip contracture (HP:0003273)4.33160392
12Hypoplastic ischia (HP:0003175)4.31379488
13Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)4.26152880
14Absent epiphyses (HP:0010577)4.26152880
15Peripheral hypomyelination (HP:0007182)4.12107977
16Hand muscle atrophy (HP:0009130)4.10695027
17Vitreoretinal degeneration (HP:0000655)4.08968101
18Abnormality of the ischium (HP:0003174)3.93652537
19Flat acetabular roof (HP:0003180)3.89228191
20Upper limb amyotrophy (HP:0009129)3.89097041
21Distal upper limb amyotrophy (HP:0007149)3.89097041
22Rhinitis (HP:0012384)3.88526448
23Duplicated collecting system (HP:0000081)3.69765753
24Delayed epiphyseal ossification (HP:0002663)3.68109406
25Nephronophthisis (HP:0000090)3.67669414
26Atrophic scars (HP:0001075)3.62992141
27Abnormality of the renal collecting system (HP:0004742)3.57072163
28Limited hip movement (HP:0008800)3.53391763
29Aplasia of the musculature (HP:0100854)3.48935882
30Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.38105155
31Vertebral clefting (HP:0008428)3.33139898
32Fetal akinesia sequence (HP:0001989)3.29817731
33Stridor (HP:0010307)3.25039477
34Milia (HP:0001056)3.04191856
35Abnormality of the renal medulla (HP:0100957)3.03929460
36Cerebral aneurysm (HP:0004944)2.97345803
37Distal lower limb muscle weakness (HP:0009053)2.94246948
38Cervical subluxation (HP:0003308)2.92655842
39Tubulointerstitial nephritis (HP:0001970)2.90558677
40Small epiphyses (HP:0010585)2.86670394
41Thin ribs (HP:0000883)2.83428930
42Diaphragmatic weakness (HP:0009113)2.81690989
43Ulnar bowing (HP:0003031)2.80097898
44Obstructive sleep apnea (HP:0002870)2.71209850
45Abnormal vertebral ossification (HP:0100569)2.66323647
46Muscle fiber splitting (HP:0003555)2.59431753
47Flattened epiphyses (HP:0003071)2.58363122
48Premature rupture of membranes (HP:0001788)2.58309808
49Upper limb muscle weakness (HP:0003484)2.58260719
50Mixed hearing impairment (HP:0000410)2.58056274
51Flared metaphyses (HP:0003015)2.56849642
52Febrile seizures (HP:0002373)2.56829424
53Infertility (HP:0000789)2.55946133
54Irregular epiphyses (HP:0010582)2.55695928
55Hypoventilation (HP:0002791)2.54543379
56Medial flaring of the eyebrow (HP:0010747)2.53968700
57Shallow orbits (HP:0000586)2.53483829
58Elbow flexion contracture (HP:0002987)2.49953074
59Septo-optic dysplasia (HP:0100842)2.48419556
60Abnormal auditory evoked potentials (HP:0006958)2.48017528
61Bronchiectasis (HP:0002110)2.46455083
62Aplasia/Hypoplasia of the uvula (HP:0010293)2.45900002
63Metaphyseal cupping (HP:0003021)2.44615513
64Abnormality of the distal phalanges of the toes (HP:0010182)2.42940865
65Bell-shaped thorax (HP:0001591)2.38759921
66Chronic bronchitis (HP:0004469)2.37580062
67Flat cornea (HP:0007720)2.37158719
68Recurrent sinusitis (HP:0011108)2.36375015
69Morphological abnormality of the middle ear (HP:0008609)2.34987251
70Coxa vara (HP:0002812)2.33394216
71Abnormality of the calf musculature (HP:0001430)2.32339245
72Prostate neoplasm (HP:0100787)2.32128098
73Optic nerve hypoplasia (HP:0000609)2.31962846
74Pterygium (HP:0001059)2.30947528
75Popliteal pterygium (HP:0009756)2.30736873
76Disproportionate short-trunk short stature (HP:0003521)2.30308961
77Down-sloping shoulders (HP:0200021)2.29983233
78Right ventricular cardiomyopathy (HP:0011663)2.29564439
79Abnormality of the intervertebral disk (HP:0005108)2.28708241
80Knee flexion contracture (HP:0006380)2.28366638
81Fragile skin (HP:0001030)2.28149200
82Round ear (HP:0100830)2.26251847
83Morphological abnormality of the inner ear (HP:0011390)2.25864386
84Abnormality of the phalanges of the 2nd finger (HP:0009541)2.24623594
85Disproportionate tall stature (HP:0001519)2.22732708
86Abnormality of dentin (HP:0010299)2.21769224
87Spinal muscular atrophy (HP:0007269)2.21358483
88Limb-girdle muscle atrophy (HP:0003797)2.20597860
89Hypoplasia of the odontoid process (HP:0003311)2.19219733
90J-shaped sella turcica (HP:0002680)2.18903292
91Chronic hepatic failure (HP:0100626)2.17591562
92Ulnar claw (HP:0001178)2.14114822
93Molar tooth sign on MRI (HP:0002419)2.13939957
94Abnormality of midbrain morphology (HP:0002418)2.13939957
95Arthropathy (HP:0003040)2.13461536
96Spinal rigidity (HP:0003306)2.13414140
97Protuberant abdomen (HP:0001538)2.13299743
98Meckel diverticulum (HP:0002245)2.13269380
99Metatarsus adductus (HP:0001840)2.10311662
100Abnormality of the preputium (HP:0100587)2.09229985
101Hypoplasia of the iris (HP:0007676)2.08702733
102Mildly elevated creatine phosphokinase (HP:0008180)2.08341694
103Abnormality of the pubic bones (HP:0003172)2.06682905
104Decreased central vision (HP:0007663)2.06171363
105Distal arthrogryposis (HP:0005684)2.05509594
106Mild short stature (HP:0003502)2.05193469
107Postaxial foot polydactyly (HP:0001830)2.05077272
108Onycholysis (HP:0001806)2.04952777
109Abnormality of the ileum (HP:0001549)2.04737543
110Nephroblastoma (Wilms tumor) (HP:0002667)2.04704776
111Osteomalacia (HP:0002749)2.04416192
112Ventricular tachycardia (HP:0004756)2.04015766
113Fragile nails (HP:0001808)2.03563656
114Clubbing of toes (HP:0100760)2.02815463
115Congenital hepatic fibrosis (HP:0002612)2.02281019
116Ectopic kidney (HP:0000086)2.01587733
117Barrel-shaped chest (HP:0001552)2.01417333
118True hermaphroditism (HP:0010459)2.01338959
119Flat capital femoral epiphysis (HP:0003370)2.01174760
120Lower limb asymmetry (HP:0100559)1.98292767
121Short femoral neck (HP:0100864)1.98143282
122Abnormality of the middle phalanges of the toes (HP:0010183)1.97496587
123Optic neuritis (HP:0100653)1.97082178
124Retrobulbar optic neuritis (HP:0100654)1.97082178
125Abnormal spermatogenesis (HP:0008669)1.96886044
126Abnormality of the calcaneus (HP:0008364)1.95738000
127Congenital stationary night blindness (HP:0007642)1.95704898
128Dislocated radial head (HP:0003083)1.94921106
129Embryonal renal neoplasm (HP:0011794)1.94553627
130Spinal cord compression (HP:0002176)1.94466421
131Abnormality of the renal cortex (HP:0011035)1.93787041
132Selective tooth agenesis (HP:0001592)1.92177115
133Thoracolumbar scoliosis (HP:0002944)1.91253391
134Abnormality of the odontoid process (HP:0003310)1.89614040
135Mesomelia (HP:0003027)1.89082078
136Abnormality of molar (HP:0011077)1.88974601
137Abnormality of molar morphology (HP:0011070)1.88974601
138Bladder diverticulum (HP:0000015)1.88943991
139Natal tooth (HP:0000695)1.88816257
140Neurofibrillary tangles (HP:0002185)1.88250836
141Renal dysplasia (HP:0000110)1.87598970
142Aplasia/Hypoplasia of the lens (HP:0008063)1.86949753
143Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.86616341
144Exostoses (HP:0100777)1.85845356
145Congenital sensorineural hearing impairment (HP:0008527)1.84182453
146Hammertoe (HP:0001765)1.83834210
147Tubulointerstitial abnormality (HP:0001969)1.83432491
148Hypoplasia of the capital femoral epiphysis (HP:0003090)1.83156008
149Adducted thumb (HP:0001181)1.83138052
150Cupped ribs (HP:0000887)1.82668560
151Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.82424960
152Blue irides (HP:0000635)1.82126336
153Action tremor (HP:0002345)1.82041022
154Abnormality of DNA repair (HP:0003254)1.81416910
155Double outlet right ventricle (HP:0001719)1.77366000
156Congenital malformation of the right heart (HP:0011723)1.77366000
157Nasal polyposis (HP:0100582)1.76784683
158White forelock (HP:0002211)1.76481230
159Follicular hyperkeratosis (HP:0007502)1.76274521
160Duplication of thumb phalanx (HP:0009942)1.75113202
161Abnormality of the carotid arteries (HP:0005344)1.75053846
162Type 2 muscle fiber atrophy (HP:0003554)1.74377359
163Absent frontal sinuses (HP:0002688)1.73035505
164Alveolar cell carcinoma (HP:0006519)1.72941827
165Gait imbalance (HP:0002141)1.72231435
166Median cleft lip (HP:0000161)1.71756276
167Absent eyebrow (HP:0002223)1.70967105
168Nephrogenic diabetes insipidus (HP:0009806)1.70876514
169Pulmonary artery stenosis (HP:0004415)1.70142565
170Astigmatism (HP:0000483)1.69550067
171Congenital primary aphakia (HP:0007707)1.67978485
172Pancreatic fibrosis (HP:0100732)1.67530907
173Stage 5 chronic kidney disease (HP:0003774)1.65177461
174Preaxial hand polydactyly (HP:0001177)1.65014167
175Male pseudohermaphroditism (HP:0000037)1.63468210
176Abnormality of chromosome stability (HP:0003220)1.61873426
177Azoospermia (HP:0000027)1.58850948
178Abnormality of the dental pulp (HP:0006479)1.56556069
179Attenuation of retinal blood vessels (HP:0007843)1.56349826
180Absent septum pellucidum (HP:0001331)1.55495199
181Type 1 muscle fiber predominance (HP:0003803)1.54920130
182Keratoconjunctivitis sicca (HP:0001097)1.54079505
183Patchy hypopigmentation of hair (HP:0011365)1.53962382
184Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.52839755
185Recurrent pneumonia (HP:0006532)1.51547241
186Tubular atrophy (HP:0000092)1.51374595
187Renal cortical cysts (HP:0000803)1.50796225
188Nonprogressive disorder (HP:0003680)1.50174937
189Postaxial hand polydactyly (HP:0001162)1.49967060
190Abnormal biliary tract physiology (HP:0012439)1.49818894
191Bile duct proliferation (HP:0001408)1.49818894
192Neonatal short-limb short stature (HP:0008921)1.48945760
193Epileptic encephalopathy (HP:0200134)1.46907047
194Keratoconjunctivitis (HP:0001096)1.45616657
195Taurodontia (HP:0000679)1.44417160

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LMTK25.54875867
2NME24.96231186
3CASK4.75736475
4PKN24.38359479
5FLT33.01251793
6ERBB42.96575720
7TNIK2.81895951
8PDK32.69131552
9PDK42.69131552
10GRK12.55346458
11EPHB12.48361583
12MET2.45817011
13SIK32.36539770
14PAK42.34371713
15EPHA42.31910177
16MOS2.29341106
17EIF2AK22.23124291
18TRIB32.21148329
19ZAK2.15127233
20NTRK12.13972721
21INSRR2.09218784
22ICK2.07268221
23PDGFRA2.01048312
24PDK21.99183371
25TXK1.94991760
26RIPK11.84158639
27MST1R1.79649521
28NTRK31.77408396
29IRAK11.74263656
30MAP3K141.73900826
31PTK21.73642899
32YES11.72279544
33ADRBK21.66210005
34OBSCN1.62429163
35CDK31.62169649
36STK161.61985389
37MAP2K71.61003985
38NEK61.58642095
39PRKD31.56831593
40PRPF4B1.53940452
41EPHA21.49368263
42MAPK131.42417340
43MUSK1.41021042
44MKNK21.38223913
45RET1.31312057
46DDR21.27892431
47MAPK151.26401338
48TESK11.25469668
49PKN11.24632689
50LATS21.23297806
51PDGFRB1.23189818
52LATS11.22774752
53STK241.17978987
54CLK11.17707205
55SIK21.16183929
56BMPR1B1.16140209
57EPHA31.14510418
58IRAK41.14361521
59TYRO31.13002672
60SRPK11.12444770
61IRAK21.10007109
62NLK1.06957499
63BMPR21.05726409
64AKT31.04708946
65DMPK0.96013634
66MAP3K100.95720208
67PAK60.94039702
68BMX0.93707489
69ERBB30.91449843
70CCNB10.91324512
71KIT0.91156498
72BLK0.91023719
73PRKD20.90054718
74SGK20.89774999
75RIPK40.89317238
76ERBB20.87930357
77PINK10.87836543
78MARK10.85873421
79CDC42BPA0.84278500
80GRK70.83428052
81PTK2B0.83023173
82SIK10.82210440
83IRAK30.80208288
84ARAF0.79921853
85TTN0.77384992
86PTK60.76760856
87ROCK20.75447348
88ROCK10.75230460
89PRKCE0.73546345
90MKNK10.71511516
91MTOR0.70559677
92EPHB20.69853507
93NTRK20.68700151
94MAP2K60.67752752
95PLK20.67403885
96MAP3K20.66044128
97BRD40.64428831
98CDK80.62117087
99MAP3K40.61792438
100NUAK10.61520971
101STK38L0.61424904
102PRKCG0.59292437
103BCR0.59289550
104PIK3CG0.57912544
105PNCK0.57639433
106MAPK70.57585972
107TAOK20.57213259
108CHEK20.56403186
109LIMK10.55638459
110MAP3K60.54852458
111ATR0.53071199
112PHKG10.53028446
113PHKG20.53028446
114STK380.51696980
115ILK0.48865495
116DYRK20.48741314
117TNK20.48616511
118SGK10.47566983
119MAP3K130.47286783
120TRPM70.46827340
121DAPK10.46156377
122FGFR40.45184370
123GSK3A0.45061536
124KSR10.44064056
125TGFBR20.43267398
126WNK10.42824884
127TIE10.42817650
128KSR20.42789106
129SGK4940.41634623
130SGK2230.41634623
131TEC0.41520495
132PAK20.41308587
133VRK10.41293617
134PRKG10.40410893
135DAPK20.39564112
136CAMK2A0.38775892
137DYRK1A0.38521645
138IKBKB0.38486246
139FGFR10.38431055
140ERN10.38067816
141CHUK0.36409649
142CAMK1G0.36383524
143DYRK1B0.36382184
144STK390.35323291
145RPS6KA20.34452752
146CDK120.34043815
147CSK0.33963178
148PLK40.33710794
149SRC0.33411989
150MARK20.32631887
151MAP3K70.32017614
152STK30.31357642
153CAMKK10.30231548
154WNK40.28607512
155PRKCQ0.28202441
156CDK11A0.26025461
157CAMK2D0.25576630
158MAPK100.23084846
159CDK150.22406696
160FER0.21650042
161PDPK10.21497239
162MAPK10.19540778
163CDK180.19230871
164TGFBR10.18862440
165MAP3K90.18840896
166EEF2K0.17451239
167CDK50.14979482
168MAP3K30.14406405
169MAPKAPK30.13296485

Predicted pathways (KEGG)

RankGene SetZ-score
1Focal adhesion_Homo sapiens_hsa045103.06656750
2Fanconi anemia pathway_Homo sapiens_hsa034602.99033810
3Nicotine addiction_Homo sapiens_hsa050332.54124532
4Small cell lung cancer_Homo sapiens_hsa052222.26626243
5Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.08753797
6Taste transduction_Homo sapiens_hsa047421.71338452
7Amoebiasis_Homo sapiens_hsa051461.70904344
8Graft-versus-host disease_Homo sapiens_hsa053321.68301206
9Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.65557758
10Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.63219795
11Phototransduction_Homo sapiens_hsa047441.62400027
12Autoimmune thyroid disease_Homo sapiens_hsa053201.57431479
13Adherens junction_Homo sapiens_hsa045201.56410538
14ECM-receptor interaction_Homo sapiens_hsa045121.55262651
15Hippo signaling pathway_Homo sapiens_hsa043901.54791329
16Thyroid cancer_Homo sapiens_hsa052161.54522618
17Malaria_Homo sapiens_hsa051441.53304061
18Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.51444895
19Basal transcription factors_Homo sapiens_hsa030221.46749555
20Morphine addiction_Homo sapiens_hsa050321.46367433
21Calcium signaling pathway_Homo sapiens_hsa040201.44502649
22Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.41686863
23Regulation of actin cytoskeleton_Homo sapiens_hsa048101.38425631
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.37889495
25Notch signaling pathway_Homo sapiens_hsa043301.37134019
26Allograft rejection_Homo sapiens_hsa053301.31364625
27Non-homologous end-joining_Homo sapiens_hsa034501.28692738
28Tight junction_Homo sapiens_hsa045301.27329406
29Basal cell carcinoma_Homo sapiens_hsa052171.26513388
30Intestinal immune network for IgA production_Homo sapiens_hsa046721.25524300
31NF-kappa B signaling pathway_Homo sapiens_hsa040641.25518965
32Rheumatoid arthritis_Homo sapiens_hsa053231.23676290
33Sphingolipid metabolism_Homo sapiens_hsa006001.22762705
34Homologous recombination_Homo sapiens_hsa034401.18632655
35Proteoglycans in cancer_Homo sapiens_hsa052051.18168757
36MicroRNAs in cancer_Homo sapiens_hsa052061.17767812
37Axon guidance_Homo sapiens_hsa043601.17489396
38Measles_Homo sapiens_hsa051621.16418826
39Thyroid hormone signaling pathway_Homo sapiens_hsa049191.16198266
40Arachidonic acid metabolism_Homo sapiens_hsa005901.15251766
41Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.15152063
42Linoleic acid metabolism_Homo sapiens_hsa005911.13252531
43Glycosaminoglycan degradation_Homo sapiens_hsa005311.11913293
44alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.10917540
45Lysine degradation_Homo sapiens_hsa003101.08362688
46Melanogenesis_Homo sapiens_hsa049161.07067029
47Ether lipid metabolism_Homo sapiens_hsa005651.06049717
48Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05349509
49Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.04659675
50Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.03987629
51Fatty acid biosynthesis_Homo sapiens_hsa000611.03369226
52Hematopoietic cell lineage_Homo sapiens_hsa046401.02389403
53Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.02244951
54Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.02244407
55Wnt signaling pathway_Homo sapiens_hsa043101.00155323
56Serotonergic synapse_Homo sapiens_hsa047261.00030921
57Glutamatergic synapse_Homo sapiens_hsa047240.98334293
58Hedgehog signaling pathway_Homo sapiens_hsa043400.98184400
59Phenylalanine metabolism_Homo sapiens_hsa003600.98029105
60Cyanoamino acid metabolism_Homo sapiens_hsa004600.97610423
61Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.97472401
62Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.95549416
63Amphetamine addiction_Homo sapiens_hsa050310.95141453
64Olfactory transduction_Homo sapiens_hsa047400.93994001
65Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.93454177
66Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.91836293
67Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.91594627
68Circadian entrainment_Homo sapiens_hsa047130.91220172
69Pathways in cancer_Homo sapiens_hsa052000.90311524
70Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.89229513
71TGF-beta signaling pathway_Homo sapiens_hsa043500.88291708
72Ovarian steroidogenesis_Homo sapiens_hsa049130.87987210
73Phagosome_Homo sapiens_hsa041450.87146047
74Toll-like receptor signaling pathway_Homo sapiens_hsa046200.85090986
75Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.84328787
76Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.82909915
77Glioma_Homo sapiens_hsa052140.81675188
78Mineral absorption_Homo sapiens_hsa049780.81226614
79* Protein digestion and absorption_Homo sapiens_hsa049740.80143353
80Dorso-ventral axis formation_Homo sapiens_hsa043200.79422351
81Asthma_Homo sapiens_hsa053100.78770719
82ErbB signaling pathway_Homo sapiens_hsa040120.78422622
83Central carbon metabolism in cancer_Homo sapiens_hsa052300.78286038
84Purine metabolism_Homo sapiens_hsa002300.77215154
85Primary immunodeficiency_Homo sapiens_hsa053400.76042024
86Prion diseases_Homo sapiens_hsa050200.74920355
87Insulin secretion_Homo sapiens_hsa049110.74846577
88TNF signaling pathway_Homo sapiens_hsa046680.73766029
89Transcriptional misregulation in cancer_Homo sapiens_hsa052020.73366170
90cAMP signaling pathway_Homo sapiens_hsa040240.73063735
91Influenza A_Homo sapiens_hsa051640.72450992
92Renin secretion_Homo sapiens_hsa049240.71305519
93Herpes simplex infection_Homo sapiens_hsa051680.69019149
94Fructose and mannose metabolism_Homo sapiens_hsa000510.68234272
95Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.68103633
96Dilated cardiomyopathy_Homo sapiens_hsa054140.67086099
97Endometrial cancer_Homo sapiens_hsa052130.67078379
98cGMP-PKG signaling pathway_Homo sapiens_hsa040220.66874001
99African trypanosomiasis_Homo sapiens_hsa051430.66456051
100Jak-STAT signaling pathway_Homo sapiens_hsa046300.66332067
101Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.64209017
102NOD-like receptor signaling pathway_Homo sapiens_hsa046210.63457960
103Osteoclast differentiation_Homo sapiens_hsa043800.62708111
104Phosphatidylinositol signaling system_Homo sapiens_hsa040700.62490386
105Gastric acid secretion_Homo sapiens_hsa049710.62184561
106Rap1 signaling pathway_Homo sapiens_hsa040150.61935060
107Cocaine addiction_Homo sapiens_hsa050300.61670216
108GnRH signaling pathway_Homo sapiens_hsa049120.61165268
109Insulin signaling pathway_Homo sapiens_hsa049100.60154182
110AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.60008990
111Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.59752011
112MAPK signaling pathway_Homo sapiens_hsa040100.58384131
113Neurotrophin signaling pathway_Homo sapiens_hsa047220.58323510
114Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.58247490
115Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58059838
116Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58001791
117Oxytocin signaling pathway_Homo sapiens_hsa049210.57755141
118Type I diabetes mellitus_Homo sapiens_hsa049400.57440334
119Estrogen signaling pathway_Homo sapiens_hsa049150.57422261
120Collecting duct acid secretion_Homo sapiens_hsa049660.56936856
121VEGF signaling pathway_Homo sapiens_hsa043700.56923942
122Chronic myeloid leukemia_Homo sapiens_hsa052200.56894629
123Salivary secretion_Homo sapiens_hsa049700.56551198
124Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.56498736
125Other glycan degradation_Homo sapiens_hsa005110.55849847
126Vascular smooth muscle contraction_Homo sapiens_hsa042700.55796048
127Leukocyte transendothelial migration_Homo sapiens_hsa046700.54630132
128PPAR signaling pathway_Homo sapiens_hsa033200.51304836
129Prostate cancer_Homo sapiens_hsa052150.50875075
130Lysosome_Homo sapiens_hsa041420.50647682
131Non-small cell lung cancer_Homo sapiens_hsa052230.49967126
132Phospholipase D signaling pathway_Homo sapiens_hsa040720.49745533
133Gap junction_Homo sapiens_hsa045400.49284323
134mRNA surveillance pathway_Homo sapiens_hsa030150.49081638
135RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.48457068
136Histidine metabolism_Homo sapiens_hsa003400.48241809
137SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47995581
138Toxoplasmosis_Homo sapiens_hsa051450.47904852
139Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.47255479
140Legionellosis_Homo sapiens_hsa051340.47025865
141Circadian rhythm_Homo sapiens_hsa047100.46908850
142Insulin resistance_Homo sapiens_hsa049310.46898481
143ABC transporters_Homo sapiens_hsa020100.46692718
144Adipocytokine signaling pathway_Homo sapiens_hsa049200.46377781
145Type II diabetes mellitus_Homo sapiens_hsa049300.46152504
146Ras signaling pathway_Homo sapiens_hsa040140.46069439
147Melanoma_Homo sapiens_hsa052180.45978843
148Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45978539
149PI3K-Akt signaling pathway_Homo sapiens_hsa041510.45482575
150Systemic lupus erythematosus_Homo sapiens_hsa053220.43826732
151Choline metabolism in cancer_Homo sapiens_hsa052310.42979754
152Bile secretion_Homo sapiens_hsa049760.42978409
153Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42420732
154Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42326022
155Cardiac muscle contraction_Homo sapiens_hsa042600.41550622
156GABAergic synapse_Homo sapiens_hsa047270.41395982
157Thyroid hormone synthesis_Homo sapiens_hsa049180.41381326
158Glucagon signaling pathway_Homo sapiens_hsa049220.40810811
159Bladder cancer_Homo sapiens_hsa052190.40726459
160Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.39885972
161Galactose metabolism_Homo sapiens_hsa000520.39426562
162p53 signaling pathway_Homo sapiens_hsa041150.38374069
163Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.38069616
164Renal cell carcinoma_Homo sapiens_hsa052110.36989499
165Pancreatic cancer_Homo sapiens_hsa052120.35075649
166Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33726410

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