INVS

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 containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)6.00298094
2nuclear pore organization (GO:0006999)5.16855890
3interkinetic nuclear migration (GO:0022027)4.94206135
4phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)4.63196743
5pre-miRNA processing (GO:0031054)4.57337677
6response to pheromone (GO:0019236)4.50094593
7negative regulation of synaptic transmission, GABAergic (GO:0032229)4.48063572
8pore complex assembly (GO:0046931)4.26204116
9mesenchymal cell differentiation involved in renal system development (GO:2001012)4.22571780
10mesenchymal cell differentiation involved in kidney development (GO:0072161)4.22571780
11mitotic sister chromatid cohesion (GO:0007064)4.21911324
12presynaptic membrane assembly (GO:0097105)4.19193260
13import into cell (GO:0098657)4.02451846
14dosage compensation (GO:0007549)3.95953433
15drinking behavior (GO:0042756)3.89234392
16definitive hemopoiesis (GO:0060216)3.87101636
17establishment of protein localization to Golgi (GO:0072600)3.86942973
18positive regulation of mitochondrial fission (GO:0090141)3.85447097
19lipid translocation (GO:0034204)3.83901730
20phospholipid translocation (GO:0045332)3.83901730
21tyrosine phosphorylation of STAT protein (GO:0007260)3.81473795
22histone H3-K9 methylation (GO:0051567)3.69769846
23pyrimidine dimer repair (GO:0006290)3.68712527
24positive regulation of developmental pigmentation (GO:0048087)3.67859123
25regulation of transforming growth factor beta2 production (GO:0032909)3.57810560
26G-protein coupled receptor internalization (GO:0002031)3.57605247
27COPII vesicle coating (GO:0048208)3.54506039
28monoubiquitinated protein deubiquitination (GO:0035520)3.54267384
29limb bud formation (GO:0060174)3.52905460
30spliceosomal tri-snRNP complex assembly (GO:0000244)3.52566770
31cellular response to ethanol (GO:0071361)3.52562730
32microtubule anchoring (GO:0034453)3.52471064
33nucleotide transmembrane transport (GO:1901679)3.48149098
34regulation of pigment cell differentiation (GO:0050932)3.46623912
35peptidyl-lysine dimethylation (GO:0018027)3.46505679
36sister chromatid cohesion (GO:0007062)3.45248155
37regulation of timing of cell differentiation (GO:0048505)3.43996634
38histone mRNA catabolic process (GO:0071044)3.41882128
39presynaptic membrane organization (GO:0097090)3.41272177
40epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.40366993
41head development (GO:0060322)3.39227369
42protein targeting to Golgi (GO:0000042)3.36035653
43regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.35909276
44retrograde transport, vesicle recycling within Golgi (GO:0000301)3.35436894
45glucosamine-containing compound catabolic process (GO:1901072)3.30675154
46protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)3.28122919
47cytoplasmic mRNA processing body assembly (GO:0033962)3.24377604
48doxorubicin metabolic process (GO:0044598)3.21411061
49daunorubicin metabolic process (GO:0044597)3.21411061
50polyketide metabolic process (GO:0030638)3.21411061
51postsynaptic membrane organization (GO:0001941)3.21253250
52centriole replication (GO:0007099)3.20607817
53centriole assembly (GO:0098534)3.19157072
54negative regulation of nitric-oxide synthase activity (GO:0051001)3.17386263
55regulation of histone H3-K27 methylation (GO:0061085)3.15196913
56regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.14810060
57regulation of mitochondrial fission (GO:0090140)3.13381765
58regulation of RNA export from nucleus (GO:0046831)3.09240319
59neural tube formation (GO:0001841)3.08163532
60cranial nerve morphogenesis (GO:0021602)3.04029085
61intra-Golgi vesicle-mediated transport (GO:0006891)3.02815606
62developmental pigmentation (GO:0048066)3.01259329
63positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.97626212
64negative regulation of complement activation (GO:0045916)2.96747438
65microtubule nucleation (GO:0007020)2.94951222
66negative regulation of digestive system process (GO:0060457)2.94349054
67mesenchymal cell differentiation (GO:0048762)2.93783412
68negative regulation of osteoblast proliferation (GO:0033689)2.92697797
69early endosome to late endosome transport (GO:0045022)2.92170808
70kidney morphogenesis (GO:0060993)2.91815789
71righting reflex (GO:0060013)2.91794136
72regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.90147577
73histone H3-K4 trimethylation (GO:0080182)2.89918896
74negative regulation of protein activation cascade (GO:2000258)2.89734249
75histone H3-K9 modification (GO:0061647)2.89300390
76cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.88702400
77polyol transport (GO:0015791)2.88443720
78cellular response to epinephrine stimulus (GO:0071872)2.87780533
79cornea development in camera-type eye (GO:0061303)2.87541627
80cyclic nucleotide catabolic process (GO:0009214)2.87394722
81nucleus localization (GO:0051647)2.86972133
82maintenance of protein location in nucleus (GO:0051457)2.85172675
83retina layer formation (GO:0010842)2.84670058
84response to follicle-stimulating hormone (GO:0032354)2.84214547
85histone lysine methylation (GO:0034968)2.84190023
86protein heterotetramerization (GO:0051290)2.82687148
87hypotonic response (GO:0006971)2.81760629
88DNA integration (GO:0015074)2.80699934
89bone remodeling (GO:0046849)2.80511135
90histone lysine demethylation (GO:0070076)2.79760638
91cAMP catabolic process (GO:0006198)2.79438104
92negative regulation of neurotransmitter secretion (GO:0046929)2.78832883
93regulation of development, heterochronic (GO:0040034)2.77823344
94histone demethylation (GO:0016577)2.76129178
95startle response (GO:0001964)2.75958277
96positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)2.75945699
97superoxide anion generation (GO:0042554)2.72273120
98positive regulation of protein sumoylation (GO:0033235)2.70981160
99cerebral cortex radially oriented cell migration (GO:0021799)2.69905610
100mitochondrial fission (GO:0000266)2.69313655
101response to epinephrine (GO:0071871)2.68988738
102lateral sprouting from an epithelium (GO:0060601)2.68445064
103regulation of oxidative stress-induced neuron death (GO:1903203)2.66905925
104DNA damage induced protein phosphorylation (GO:0006975)2.66825464
105poly(A)+ mRNA export from nucleus (GO:0016973)2.65557136
106keratinocyte development (GO:0003334)2.64900635
107regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.64184486
108centrosome duplication (GO:0051298)2.64182064
109regulation of centriole replication (GO:0046599)2.63994321
110histone H3-K36 demethylation (GO:0070544)2.63992380
111snRNA transcription (GO:0009301)2.62567053
112L-amino acid import (GO:0043092)2.62360849
113extracellular negative regulation of signal transduction (GO:1900116)2.61987980
114extracellular regulation of signal transduction (GO:1900115)2.61987980
115negative regulation of cardiac muscle hypertrophy (GO:0010614)2.61754196
116necrotic cell death (GO:0070265)2.61499032
117cell differentiation involved in kidney development (GO:0061005)2.59620972
118gastrulation with mouth forming second (GO:0001702)2.55823374
119hemoglobin metabolic process (GO:0020027)2.55544446
120glycoprotein catabolic process (GO:0006516)2.55536137
121non-recombinational repair (GO:0000726)2.55202425
122double-strand break repair via nonhomologous end joining (GO:0006303)2.55202425
123regulation of membrane lipid distribution (GO:0097035)2.55016218
124regulation of integrin activation (GO:0033623)2.54757857
125glucocorticoid receptor signaling pathway (GO:0042921)2.54333210
126spinal cord motor neuron differentiation (GO:0021522)2.53342803
127positive regulation by host of viral transcription (GO:0043923)2.52792945
128protein K11-linked deubiquitination (GO:0035871)2.52184301
129positive regulation of glycolytic process (GO:0045821)2.52028432
130regulation of non-canonical Wnt signaling pathway (GO:2000050)2.51327288
131embryonic camera-type eye morphogenesis (GO:0048596)2.51100999
132negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.51099345
133interleukin-6-mediated signaling pathway (GO:0070102)2.51076073
134regulation of inositol phosphate biosynthetic process (GO:0010919)2.50674370
135omega-hydroxylase P450 pathway (GO:0097267)2.50256102
136phosphatidylinositol phosphorylation (GO:0046854)2.50036022
137protein localization to cilium (GO:0061512)2.49155568
138organ growth (GO:0035265)2.48256286
139viral entry into host cell (GO:0046718)2.47985148
140negative regulation of keratinocyte proliferation (GO:0010839)2.47681795
141mechanoreceptor differentiation (GO:0042490)2.47550155
142establishment of spindle orientation (GO:0051294)2.46395523
143protein K48-linked deubiquitination (GO:0071108)2.45973327
144cartilage morphogenesis (GO:0060536)2.45806983
145lymphoid progenitor cell differentiation (GO:0002320)2.45525913
146androgen receptor signaling pathway (GO:0030521)2.44048398
147response to lipoprotein particle (GO:0055094)2.43644729
148serotonin receptor signaling pathway (GO:0007210)2.43595621
149DNA geometric change (GO:0032392)2.43094185
150cranial nerve structural organization (GO:0021604)2.43009603
151cell proliferation in forebrain (GO:0021846)2.42130931
152cell differentiation involved in metanephros development (GO:0072202)2.41750049
153cellular response to ATP (GO:0071318)2.41392210
154DNA duplex unwinding (GO:0032508)2.39689245
155peptidyl-lysine methylation (GO:0018022)2.39361245
156protein dealkylation (GO:0008214)2.39251706
157protein demethylation (GO:0006482)2.39251706
158mesenchymal-epithelial cell signaling (GO:0060638)2.39113505
159regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.38478534
160pharyngeal system development (GO:0060037)2.38457573
161positive regulation of meiosis (GO:0045836)2.38394391
162negative regulation of cell cycle G2/M phase transition (GO:1902750)2.37776971
163cranial nerve development (GO:0021545)2.37766457
164regulation of sister chromatid cohesion (GO:0007063)2.37248935
165stress granule assembly (GO:0034063)2.36894058
166negative regulation of homotypic cell-cell adhesion (GO:0034111)2.35888086
167reflex (GO:0060004)2.35324466
168positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)2.34465453
169regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)2.34465453
170activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.33741644
171negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.33688399
172negative regulation of translation, ncRNA-mediated (GO:0040033)2.33688399
173regulation of translation, ncRNA-mediated (GO:0045974)2.33688399
174oligosaccharide catabolic process (GO:0009313)2.33607104
175response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.33177154
176ganglion development (GO:0061548)2.32199513
177limb development (GO:0060173)2.31084223
178appendage development (GO:0048736)2.31084223
179protein targeting to vacuole (GO:0006623)2.31026037
180protein targeting to lysosome (GO:0006622)2.31026037
181establishment of protein localization to vacuole (GO:0072666)2.31026037
182negative regulation of nitric oxide biosynthetic process (GO:0045019)2.30240839
183negative regulation of myoblast differentiation (GO:0045662)2.27035403
184epithelial cilium movement (GO:0003351)2.26312138
185calcium ion import (GO:0070509)2.26223900
186olfactory bulb development (GO:0021772)2.26033958
187negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)2.25206880
188positive regulation of protein kinase C signaling (GO:0090037)2.25154788
189prostate gland growth (GO:0060736)2.24398164
190eye photoreceptor cell development (GO:0042462)2.23943791
191neuron cell-cell adhesion (GO:0007158)2.22912052
192embryonic forelimb morphogenesis (GO:0035115)2.22368883
193negative regulation of muscle hypertrophy (GO:0014741)2.22168197
194positive regulation of cellular amide metabolic process (GO:0034250)2.21689911
195photoreceptor cell maintenance (GO:0045494)2.21462327
196dentate gyrus development (GO:0021542)2.21442438
197positive regulation of uterine smooth muscle contraction (GO:0070474)2.21411804

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA1_22025678_ChIP-Seq_K562_Human4.91302083
2STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse4.18381534
3GBX2_23144817_ChIP-Seq_PC3_Human3.94269523
4EZH2_22144423_ChIP-Seq_EOC_Human3.56573392
5EGR1_19374776_ChIP-ChIP_THP-1_Human3.40850263
6SALL1_21062744_ChIP-ChIP_HESCs_Human3.19701307
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.17133121
8E2F7_22180533_ChIP-Seq_HELA_Human3.02891372
9ZFP57_27257070_Chip-Seq_ESCs_Mouse2.67326881
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.61114079
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.49383055
12* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.36495759
13PCGF2_27294783_Chip-Seq_ESCs_Mouse2.26177420
14FLI1_27457419_Chip-Seq_LIVER_Mouse2.26032450
15RBPJ_22232070_ChIP-Seq_NCS_Mouse2.25082303
16TAF15_26573619_Chip-Seq_HEK293_Human2.13918030
17JARID2_20064375_ChIP-Seq_MESCs_Mouse2.10152125
18* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.03902854
19SUZ12_27294783_Chip-Seq_NPCs_Mouse2.02522291
20TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse2.02304171
21EED_16625203_ChIP-ChIP_MESCs_Mouse1.98615190
22P300_19829295_ChIP-Seq_ESCs_Human1.96565554
23CBX2_27304074_Chip-Seq_ESCs_Mouse1.95645152
24* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.94794947
25* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.92790645
26PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.91991649
27E2F4_17652178_ChIP-ChIP_JURKAT_Human1.90800709
28SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.90781297
29NFE2_27457419_Chip-Seq_LIVER_Mouse1.90049919
30BMI1_23680149_ChIP-Seq_NPCS_Mouse1.89423598
31SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.89413933
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.89264988
33* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.89264138
34PCGF2_27294783_Chip-Seq_NPCs_Mouse1.85930390
35BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.82369678
36EZH2_27304074_Chip-Seq_ESCs_Mouse1.82162911
37SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.81618692
38IGF1R_20145208_ChIP-Seq_DFB_Human1.81394293
39SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.80481997
40* BRD4_25478319_ChIP-Seq_HGPS_Human1.79920807
41PIAS1_25552417_ChIP-Seq_VCAP_Human1.79174342
42SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.78754653
43NANOG_18555785_Chip-Seq_ESCs_Mouse1.78097333
44Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.78092345
45VDR_22108803_ChIP-Seq_LS180_Human1.76617872
46HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.76114865
47EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.74116228
48TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.73058311
49CIITA_25753668_ChIP-Seq_RAJI_Human1.72723973
50EZH2_27294783_Chip-Seq_NPCs_Mouse1.72619039
51FUS_26573619_Chip-Seq_HEK293_Human1.69112297
52TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.68067364
53P53_22387025_ChIP-Seq_ESCs_Mouse1.64948259
54AR_21572438_ChIP-Seq_LNCaP_Human1.63526569
55E2F1_18555785_Chip-Seq_ESCs_Mouse1.63360466
56SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.62967238
57SUZ12_18555785_Chip-Seq_ESCs_Mouse1.61318212
58EZH2_18974828_ChIP-Seq_MESCs_Mouse1.60620481
59RNF2_18974828_ChIP-Seq_MESCs_Mouse1.60620481
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.58465533
61WT1_19549856_ChIP-ChIP_CCG9911_Human1.57974292
62SMAD4_21799915_ChIP-Seq_A2780_Human1.57429308
63GATA2_21666600_ChIP-Seq_HMVEC_Human1.56354114
64JARID2_20075857_ChIP-Seq_MESCs_Mouse1.56058445
65CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55637348
66ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.55463245
67CTBP1_25329375_ChIP-Seq_LNCAP_Human1.54229960
68E2F1_21310950_ChIP-Seq_MCF-7_Human1.54103846
69STAT3_18555785_Chip-Seq_ESCs_Mouse1.52945372
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.52925276
71ZNF274_21170338_ChIP-Seq_K562_Hela1.52356694
72CTBP2_25329375_ChIP-Seq_LNCAP_Human1.50578883
73EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.50038222
74CMYC_18555785_Chip-Seq_ESCs_Mouse1.49664746
75P300_18555785_Chip-Seq_ESCs_Mouse1.49247677
76RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.48298932
77CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.48150324
78SCL_19346495_ChIP-Seq_HPC-7_Human1.47218946
79CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.47114397
80RNF2_27304074_Chip-Seq_NSC_Mouse1.47035552
81NMYC_18555785_Chip-Seq_ESCs_Mouse1.46970223
82ELK1_19687146_ChIP-ChIP_HELA_Human1.45986080
83RUNX1_27457419_Chip-Seq_LIVER_Mouse1.42857325
84* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.41630240
85IRF1_19129219_ChIP-ChIP_H3396_Human1.41437740
86CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40810030
87NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.40144363
88OCT4_18555785_Chip-Seq_ESCs_Mouse1.39710168
89RNF2_27304074_Chip-Seq_ESCs_Mouse1.38843897
90NRF2_20460467_ChIP-Seq_MEFs_Mouse1.38361295
91NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.38361295
92EWS_26573619_Chip-Seq_HEK293_Human1.38178715
93TP63_19390658_ChIP-ChIP_HaCaT_Human1.37801070
94SOX2_18555785_Chip-Seq_ESCs_Mouse1.37513044
95* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.37122632
96* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35500628
97STAT3_23295773_ChIP-Seq_U87_Human1.35431819
98TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33867580
99PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32935224
100EZH2_27294783_Chip-Seq_ESCs_Mouse1.31819589
101PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.31585265
102SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.31367834
103MTF2_20144788_ChIP-Seq_MESCs_Mouse1.30999674
104* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30182739
105YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.30128283
106ER_23166858_ChIP-Seq_MCF-7_Human1.30028517
107* TCF4_23295773_ChIP-Seq_U87_Human1.29977866
108CTNNB1_20460455_ChIP-Seq_HCT116_Human1.29396972
109CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.29314162
110ZFX_18555785_Chip-Seq_ESCs_Mouse1.29192744
111TP53_18474530_ChIP-ChIP_U2OS_Human1.29160273
112FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.28557691
113PU1_27457419_Chip-Seq_LIVER_Mouse1.28089946
114KLF4_18555785_Chip-Seq_ESCs_Mouse1.27909402
115ESRRB_18555785_Chip-Seq_ESCs_Mouse1.27745489
116TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26252220
117POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.26252220
118NOTCH1_21737748_ChIP-Seq_TLL_Human1.26061215
119UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.25574384
120ZNF217_24962896_ChIP-Seq_MCF-7_Human1.24227258
121DROSHA_22980978_ChIP-Seq_HELA_Human1.23865440
122OCT4_21477851_ChIP-Seq_ESCs_Mouse1.23862174
123HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.23452001
124SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23328336
125RUNX2_22187159_ChIP-Seq_PCA_Human1.22531224
126AHR_22903824_ChIP-Seq_MCF-7_Human1.21649782
127NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21173593
128CTCF_18555785_Chip-Seq_ESCs_Mouse1.19595900
129SMAD1_18555785_Chip-Seq_ESCs_Mouse1.18786075
130ARNT_22903824_ChIP-Seq_MCF-7_Human1.18771997
131CRX_20693478_ChIP-Seq_RETINA_Mouse1.18121603
132SUZ12_27294783_Chip-Seq_ESCs_Mouse1.17804853
133TCF4_18268006_ChIP-ChIP_LS174T_Human1.17485324
134RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.17119102
135KDM2B_26808549_Chip-Seq_REH_Human1.12796083
136SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.12530164
137SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.12530164
138NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.12514379
139* AR_25329375_ChIP-Seq_VCAP_Human1.12280081
140ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.11761601
141TP53_16413492_ChIP-PET_HCT116_Human1.11549302
142NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.11350974
143TAL1_26923725_Chip-Seq_HPCs_Mouse1.11078012
144FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.09667929
145FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.09373973
146PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.07230486
147TFEB_21752829_ChIP-Seq_HELA_Human1.06752637
148* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04011965
149GATA4_21415370_ChIP-Seq_HL-1_Mouse1.03119676
150EGR1_23403033_ChIP-Seq_LIVER_Mouse1.02199993
151STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.02108048
152FOXA2_19822575_ChIP-Seq_HepG2_Human1.02100961
153NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.98933444
154GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96943557
155RUNX_20019798_ChIP-Seq_JUKART_Human0.95339102
156MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.93531512
157CBP_20019798_ChIP-Seq_JUKART_Human0.91603073
158IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.91603073
159VDR_23849224_ChIP-Seq_CD4+_Human0.89296732
160CJUN_26792858_Chip-Seq_BT549_Human0.88094024
161IRF8_22096565_ChIP-ChIP_GC-B_Human0.87443524
162ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85676982
163PKCTHETA_26484144_Chip-Seq_BREAST_Human0.85344604
164FOXO3_23340844_ChIP-Seq_DLD1_Human0.85025354

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication4.23476184
2MP0006292_abnormal_olfactory_placode3.81498218
3MP0002009_preneoplasia3.73351898
4MP0001188_hyperpigmentation3.69420865
5MP0003136_yellow_coat_color3.62935323
6MP0002102_abnormal_ear_morphology3.41271846
7MP0005409_darkened_coat_color3.33901812
8MP0000566_synostosis3.28537981
9MP0002166_altered_tumor_susceptibility2.56748162
10MP0000015_abnormal_ear_pigmentation2.55326811
11MP0005646_abnormal_pituitary_gland2.45682512
12MP0004381_abnormal_hair_follicle2.26242353
13MP0000013_abnormal_adipose_tissue2.24328839
14MP0005645_abnormal_hypothalamus_physiol2.22438658
15MP0002277_abnormal_respiratory_mucosa2.20035470
16MP0001486_abnormal_startle_reflex2.14626554
17MP0005076_abnormal_cell_differentiation2.13464967
18MP0002249_abnormal_larynx_morphology2.11380050
19MP0001915_intracranial_hemorrhage2.10581601
20MP0001529_abnormal_vocalization2.07600379
21MP0005174_abnormal_tail_pigmentation2.03721411
22MP0002876_abnormal_thyroid_physiology2.02360268
23MP0005171_absent_coat_pigmentation1.98629240
24MP0002638_abnormal_pupillary_reflex1.98600427
25MP0000049_abnormal_middle_ear1.97469744
26MP0001986_abnormal_taste_sensitivity1.95490297
27MP0003787_abnormal_imprinting1.93737819
28MP0000569_abnormal_digit_pigmentation1.93107558
29MP0010352_gastrointestinal_tract_polyps1.88585491
30MP0003880_abnormal_central_pattern1.87995643
31MP0002877_abnormal_melanocyte_morpholog1.87611231
32MP0008438_abnormal_cutaneous_collagen1.84972320
33MP0002006_tumorigenesis1.84532011
34MP0003191_abnormal_cellular_cholesterol1.82599297
35MP0004742_abnormal_vestibular_system1.82198987
36MP0002938_white_spotting1.80637985
37MP0003091_abnormal_cell_migration1.79893357
38MP0001661_extended_life_span1.75566025
39MP0010094_abnormal_chromosome_stability1.72986528
40MP0000678_abnormal_parathyroid_gland1.68522202
41MP0005075_abnormal_melanosome_morpholog1.66832578
42MP0004808_abnormal_hematopoietic_stem1.66623583
43MP0005379_endocrine/exocrine_gland_phen1.65514437
44MP0002177_abnormal_outer_ear1.62567390
45MP0003938_abnormal_ear_development1.60582548
46MP0000026_abnormal_inner_ear1.60405264
47MP0000631_abnormal_neuroendocrine_gland1.58177003
48MP0003221_abnormal_cardiomyocyte_apopto1.57613760
49MP0009250_abnormal_appendicular_skeleto1.55801841
50MP0002396_abnormal_hematopoietic_system1.54947140
51MP0008995_early_reproductive_senescence1.50241678
52MP0001963_abnormal_hearing_physiology1.49219133
53MP0010368_abnormal_lymphatic_system1.46877800
54MP0005187_abnormal_penis_morphology1.44792152
55MP0005257_abnormal_intraocular_pressure1.44412430
56MP0002132_abnormal_respiratory_system1.43274146
57MP0003878_abnormal_ear_physiology1.41694467
58MP0005377_hearing/vestibular/ear_phenot1.41694467
59MP0004084_abnormal_cardiac_muscle1.39636509
60MP0000681_abnormal_thyroid_gland1.39505334
61MP0003943_abnormal_hepatobiliary_system1.35700707
62MP0005397_hematopoietic_system_phenotyp1.35478417
63MP0001545_abnormal_hematopoietic_system1.35478417
64MP0001984_abnormal_olfaction1.34306728
65MP0000372_irregular_coat_pigmentation1.34274046
66MP0001879_abnormal_lymphatic_vessel1.33965993
67MP0002095_abnormal_skin_pigmentation1.33633983
68MP0006054_spinal_hemorrhage1.32514534
69MP0003656_abnormal_erythrocyte_physiolo1.31897057
70MP0001485_abnormal_pinna_reflex1.30140085
71MP0003984_embryonic_growth_retardation1.29919773
72MP0004130_abnormal_muscle_cell1.28218204
73MP0000465_gastrointestinal_hemorrhage1.28050911
74MP0009745_abnormal_behavioral_response1.27513968
75MP0005621_abnormal_cell_physiology1.27026436
76MP0002088_abnormal_embryonic_growth/wei1.25818282
77MP0002557_abnormal_social/conspecific_i1.24204869
78MP0006072_abnormal_retinal_apoptosis1.21296649
79MP0008007_abnormal_cellular_replicative1.20406183
80MP0009697_abnormal_copulation1.19590218
81MP0001440_abnormal_grooming_behavior1.19421898
82MP0003121_genomic_imprinting1.18460361
83MP0005423_abnormal_somatic_nervous1.18401793
84MP0005248_abnormal_Harderian_gland1.18388470
85MP0005551_abnormal_eye_electrophysiolog1.17590359
86MP0005670_abnormal_white_adipose1.17567432
87MP0004233_abnormal_muscle_weight1.16071658
88MP0003077_abnormal_cell_cycle1.14846362
89MP0002233_abnormal_nose_morphology1.14237402
90MP0010386_abnormal_urinary_bladder1.13862848
91MP0005253_abnormal_eye_physiology1.12282494
92MP0004885_abnormal_endolymph1.12244843
93MP0002138_abnormal_hepatobiliary_system1.11802639
94MP0003937_abnormal_limbs/digits/tail_de1.09484252
95MP0005384_cellular_phenotype1.06128022
96MP0008260_abnormal_autophagy1.04726201
97MP0001672_abnormal_embryogenesis/_devel1.04309081
98MP0005380_embryogenesis_phenotype1.04309081
99MP0005167_abnormal_blood-brain_barrier1.03206319
100MP0004134_abnormal_chest_morphology1.03045658
101MP0003566_abnormal_cell_adhesion1.03006938
102MP0006276_abnormal_autonomic_nervous1.02687699
103MP0004036_abnormal_muscle_relaxation1.02677723
104MP0002086_abnormal_extraembryonic_tissu1.02563803
105MP0005499_abnormal_olfactory_system1.02025578
106MP0005394_taste/olfaction_phenotype1.02025578
107MP0005647_abnormal_sex_gland1.01728822
108MP0003763_abnormal_thymus_physiology0.97652607
109MP0002572_abnormal_emotion/affect_behav0.97618259
110MP0002067_abnormal_sensory_capabilities0.97496455
111MP0005275_abnormal_skin_tensile0.96406801
112MP0000778_abnormal_nervous_system0.96224487
113MP0004272_abnormal_basement_membrane0.94650944
114MP0005595_abnormal_vascular_smooth0.94118203
115MP0004197_abnormal_fetal_growth/weight/0.93338303
116MP0008789_abnormal_olfactory_epithelium0.92752421
117MP0001501_abnormal_sleep_pattern0.91688111
118MP0001730_embryonic_growth_arrest0.91588647
119MP0003724_increased_susceptibility_to0.91220068
120MP0002128_abnormal_blood_circulation0.90076391
121MP0009278_abnormal_bone_marrow0.89843346
122MP0005464_abnormal_platelet_physiology0.89251638
123MP0001502_abnormal_circadian_rhythm0.88893234
124MP0002163_abnormal_gland_morphology0.88788846
125MP0008961_abnormal_basal_metabolism0.87739182
126MP0003868_abnormal_feces_composition0.87612109
127MP0000733_abnormal_muscle_development0.86535306
128* MP0002084_abnormal_developmental_patter0.86438307
129MP0009780_abnormal_chondrocyte_physiolo0.86093612
130MP0009115_abnormal_fat_cell0.86085828
131MP0002928_abnormal_bile_duct0.85364427
132MP0002272_abnormal_nervous_system0.85278921
133MP0003935_abnormal_craniofacial_develop0.85259124
134MP0000003_abnormal_adipose_tissue0.84946569
135MP0003755_abnormal_palate_morphology0.84346284
136MP0001177_atelectasis0.84088583
137MP0000383_abnormal_hair_follicle0.83421949
138MP0001299_abnormal_eye_distance/0.83137503
139MP0001186_pigmentation_phenotype0.82620257
140MP0003879_abnormal_hair_cell0.82303641
141MP0003300_gastrointestinal_ulcer0.82072785
142MP0003950_abnormal_plasma_membrane0.80745907
143MP0000432_abnormal_head_morphology0.79992085
144MP0005310_abnormal_salivary_gland0.79615541
145MP0003646_muscle_fatigue0.77383070
146MP0002735_abnormal_chemical_nociception0.76785695
147MP0009046_muscle_twitch0.76675844
148MP0002116_abnormal_craniofacial_bone0.76494824
149MP0002693_abnormal_pancreas_physiology0.75938023
150MP0000350_abnormal_cell_proliferation0.75238752
151MP0003567_abnormal_fetal_cardiomyocyte0.73879468
152MP0002751_abnormal_autonomic_nervous0.73180977
153MP0002998_abnormal_bone_remodeling0.72476936
154MP0002752_abnormal_somatic_nervous0.72258174
155MP0004043_abnormal_pH_regulation0.71404085
156MP0004142_abnormal_muscle_tone0.70982301
157MP0001790_abnormal_immune_system0.70708874
158MP0005387_immune_system_phenotype0.70708874
159MP0000163_abnormal_cartilage_morphology0.70494317
160MP0000613_abnormal_salivary_gland0.70283502
161MP0002933_joint_inflammation0.70192157
162MP0000428_abnormal_craniofacial_morphol0.68854062
163MP0000371_diluted_coat_color0.68202668
164MP0003385_abnormal_body_wall0.67957594
165MP0002075_abnormal_coat/hair_pigmentati0.67945097
166MP0002822_catalepsy0.67765974
167MP0002092_abnormal_eye_morphology0.67628660
168MP0001697_abnormal_embryo_size0.67314907
169MP0003890_abnormal_embryonic-extraembry0.66296998
170MP0005391_vision/eye_phenotype0.65712144
171MP0002332_abnormal_exercise_endurance0.64331707
172MP0002127_abnormal_cardiovascular_syste0.64277809
173* MP0002925_abnormal_cardiovascular_devel0.62031374
174MP0002139_abnormal_hepatobiliary_system0.62014240
175MP0002080_prenatal_lethality0.60724144
176MP0003699_abnormal_female_reproductive0.60189112

Predicted human phenotypes

RankGene SetZ-score
1Lip pit (HP:0100267)4.17223842
2Papillary thyroid carcinoma (HP:0002895)3.96479567
3Osteomalacia (HP:0002749)3.73835048
4Volvulus (HP:0002580)3.67200180
5Abnormality of the renal collecting system (HP:0004742)3.45654701
6Dynein arm defect of respiratory motile cilia (HP:0012255)3.44826398
7Absent/shortened dynein arms (HP:0200106)3.44826398
8Submucous cleft hard palate (HP:0000176)3.33728939
9Aplasia cutis congenita (HP:0001057)3.31272128
10White forelock (HP:0002211)3.29911727
11Nasolacrimal duct obstruction (HP:0000579)3.29815506
12Menstrual irregularities (HP:0000858)3.23799467
13Septo-optic dysplasia (HP:0100842)3.21896478
14Morphological abnormality of the middle ear (HP:0008609)3.16875360
15Patchy hypopigmentation of hair (HP:0011365)3.11959551
16Decreased central vision (HP:0007663)3.04555298
17Sandal gap (HP:0001852)2.94603026
18Chronic hepatic failure (HP:0100626)2.94292819
19Hand muscle atrophy (HP:0009130)2.90061480
20Abnormal ciliary motility (HP:0012262)2.82160151
21Abnormality of the lacrimal duct (HP:0011481)2.80836271
22Abnormality of incisor morphology (HP:0011063)2.79296028
23Cutis marmorata (HP:0000965)2.78305099
24Hip dysplasia (HP:0001385)2.76987135
25Chromosomal breakage induced by crosslinking agents (HP:0003221)2.74740362
26True hermaphroditism (HP:0010459)2.71838152
27Aplasia involving bones of the upper limbs (HP:0009823)2.70496206
28Aplasia of the phalanges of the hand (HP:0009802)2.70496206
29Aplasia involving bones of the extremities (HP:0009825)2.70496206
30Truncal obesity (HP:0001956)2.66814033
31Prominent nose (HP:0000448)2.66565243
32Febrile seizures (HP:0002373)2.64879899
33Abnormality of the nasolacrimal system (HP:0000614)2.64361998
34Fair hair (HP:0002286)2.61916527
35Long foot (HP:0001833)2.61083468
36Acute myeloid leukemia (HP:0004808)2.58972303
37Entropion (HP:0000621)2.58634989
38Pancreatic cysts (HP:0001737)2.57953927
39Low anterior hairline (HP:0000294)2.56465018
40Thyroid carcinoma (HP:0002890)2.54830265
41Pancreatic fibrosis (HP:0100732)2.54211178
42Subacute progressive viral hepatitis (HP:0006572)2.51180236
43Chromsome breakage (HP:0040012)2.50899021
44Genetic anticipation (HP:0003743)2.50690598
45Short chin (HP:0000331)2.50350400
46Scanning speech (HP:0002168)2.45078980
47Absent speech (HP:0001344)2.42097550
48Bile duct proliferation (HP:0001408)2.41953277
49Abnormal biliary tract physiology (HP:0012439)2.41953277
50* Tubulointerstitial nephritis (HP:0001970)2.40699877
51Abnormal respiratory motile cilium morphology (HP:0005938)2.38079607
52Abnormal respiratory epithelium morphology (HP:0012253)2.38079607
53Conjugated hyperbilirubinemia (HP:0002908)2.37793356
54Congenital sensorineural hearing impairment (HP:0008527)2.37123904
55Nephronophthisis (HP:0000090)2.33087978
56Cupped ear (HP:0000378)2.31759946
57Persistence of primary teeth (HP:0006335)2.30681572
58* Abnormality of the renal medulla (HP:0100957)2.29449835
59Mixed hearing impairment (HP:0000410)2.29255004
60Neuroendocrine neoplasm (HP:0100634)2.29112927
61Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)2.28883748
62Large earlobe (HP:0009748)2.28768960
63Prolonged partial thromboplastin time (HP:0003645)2.27711244
64Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.27644664
65Widely spaced teeth (HP:0000687)2.27445917
66Fibular hypoplasia (HP:0003038)2.26839716
67Fibular aplasia (HP:0002990)2.25478972
68Exotropia (HP:0000577)2.24017193
69Difficulty running (HP:0009046)2.23267976
70Long eyelashes (HP:0000527)2.22537093
71Abnormality of the nasal septum (HP:0000419)2.22458323
72Optic nerve hypoplasia (HP:0000609)2.21202260
73Renal dysplasia (HP:0000110)2.21190166
74Generalized hypopigmentation of hair (HP:0011358)2.21169690
75Abnormality of the fingertips (HP:0001211)2.20484585
76Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.20385915
77Distal upper limb amyotrophy (HP:0007149)2.18273608
78Upper limb amyotrophy (HP:0009129)2.18273608
79Thick eyebrow (HP:0000574)2.15384600
80Conical tooth (HP:0000698)2.14846171
81Heterotopia (HP:0002282)2.14091597
82Flat acetabular roof (HP:0003180)2.12712425
83Craniofacial hyperostosis (HP:0004493)2.11869355
84Aplasia/Hypoplasia of the fovea (HP:0008060)2.10976573
85Hypoplasia of the fovea (HP:0007750)2.10976573
86Duplicated collecting system (HP:0000081)2.10578881
87Abnormal respiratory motile cilium physiology (HP:0012261)2.09377066
88Gonadotropin excess (HP:0000837)2.07472643
89Overgrowth (HP:0001548)2.06232401
90Facial diplegia (HP:0001349)2.04815491
91Molar tooth sign on MRI (HP:0002419)2.04663463
92Abnormality of midbrain morphology (HP:0002418)2.04663463
93Cystic liver disease (HP:0006706)2.03855990
94Abnormality of the epiphyses of the hand (HP:0005924)2.03116603
95Central scotoma (HP:0000603)2.01959106
96Aplasia/Hypoplasia of the tibia (HP:0005772)2.00951710
97Drooling (HP:0002307)2.00892238
98Dysmetric saccades (HP:0000641)1.99907138
99Gingival bleeding (HP:0000225)1.99379223
100Chronic sinusitis (HP:0011109)1.98883851
101Increased mean platelet volume (HP:0011877)1.98143570
102Reduced subcutaneous adipose tissue (HP:0003758)1.97881598
103Viral hepatitis (HP:0006562)1.97314218
104Short tibia (HP:0005736)1.96844463
105Abnormality of the fibula (HP:0002991)1.94136473
106Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.93897222
107Broad-based gait (HP:0002136)1.93629381
108Narrow palate (HP:0000189)1.93140823
109Hypoalphalipoproteinemia (HP:0003233)1.91337993
110Hypophosphatemic rickets (HP:0004912)1.90782894
111Postaxial foot polydactyly (HP:0001830)1.90044257
112Septate vagina (HP:0001153)1.89919585
113Hypoglycemic seizures (HP:0002173)1.89547945
114Preaxial hand polydactyly (HP:0001177)1.88937730
115Median cleft lip (HP:0000161)1.88569309
116Male pseudohermaphroditism (HP:0000037)1.86310868
117Cranial hyperostosis (HP:0004437)1.86147807
118Hypoplastic pelvis (HP:0008839)1.85101556
119Alacrima (HP:0000522)1.84865805
120Joint hemorrhage (HP:0005261)1.84172934
121Abnormality of the parietal bone (HP:0002696)1.83775261
122Absent septum pellucidum (HP:0001331)1.83411770
123Increased density of long bones (HP:0006392)1.83255391
124Aplasia/Hypoplasia of the fibula (HP:0006492)1.83041931
125Partial agenesis of the corpus callosum (HP:0001338)1.82031268
126Excessive salivation (HP:0003781)1.81087518
127Hypoplastic iliac wings (HP:0002866)1.80479165
128Cortical dysplasia (HP:0002539)1.79601097
129Alveolar cell carcinoma (HP:0006519)1.79547064
130Asymmetry of the thorax (HP:0001555)1.79483272
131Progressive sensorineural hearing impairment (HP:0000408)1.78681501
132Long toe (HP:0010511)1.78062157
133Midline defect of the nose (HP:0004122)1.77984154
134Overfolded helix (HP:0000396)1.77579692
135Absent rod-and cone-mediated responses on ERG (HP:0007688)1.76680634
136Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.76469006
137Poikiloderma (HP:0001029)1.75980613
138Duplication of thumb phalanx (HP:0009942)1.75623773
139Acute lymphatic leukemia (HP:0006721)1.75076365
140Abnormality of calcium-phosphate metabolism (HP:0100530)1.74983009
141Metabolic alkalosis (HP:0200114)1.74839789
142Complete atrioventricular canal defect (HP:0001674)1.74440124
143Obsessive-compulsive behavior (HP:0000722)1.73916727
144Smooth philtrum (HP:0000319)1.73891452
145Advanced eruption of teeth (HP:0006288)1.73478986
146Focal motor seizures (HP:0011153)1.72436280
147Agammaglobulinemia (HP:0004432)1.71822553
148Decreased lacrimation (HP:0000633)1.70525175
149Attenuation of retinal blood vessels (HP:0007843)1.70080642
150Abnormality of the incisor (HP:0000676)1.69600164
151Neoplasm of the tracheobronchial system (HP:0100552)1.68894885
152Sparse lateral eyebrow (HP:0005338)1.68484570
153Accelerated skeletal maturation (HP:0005616)1.68444815
154Clubbing of toes (HP:0100760)1.67565439
155Progressive inability to walk (HP:0002505)1.67089034
156Symptomatic seizures (HP:0011145)1.66777099
157High anterior hairline (HP:0009890)1.66579985
158Colitis (HP:0002583)1.65197118
159Long clavicles (HP:0000890)1.65023079
160Blue irides (HP:0000635)1.65009715
161Abnormality of DNA repair (HP:0003254)1.64138415
162Deep philtrum (HP:0002002)1.63632389
163Open mouth (HP:0000194)1.63462277
164Transitional cell carcinoma of the bladder (HP:0006740)1.63389621
165Deviation of the thumb (HP:0009603)1.63120608
166Abnormal platelet volume (HP:0011876)1.63090518
167Pheochromocytoma (HP:0002666)1.63011979
168Atelectasis (HP:0100750)1.62701618
169Pulmonary artery stenosis (HP:0004415)1.62542577
170Protruding tongue (HP:0010808)1.62362509
171Hypothermia (HP:0002045)1.61804597
172Tapered finger (HP:0001182)1.61307765
173Popliteal pterygium (HP:0009756)1.60969052
174Hematochezia (HP:0002573)1.60866454
175Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.60636679
176Skull defect (HP:0001362)1.60512733
177Bladder carcinoma (HP:0002862)1.60453798
178Bladder neoplasm (HP:0009725)1.60453798
179Renal tubular dysfunction (HP:0000124)1.60221596
180Decreased circulating renin level (HP:0003351)1.60115823
181Absent frontal sinuses (HP:0002688)1.60066795
182Postnatal growth retardation (HP:0008897)1.59223521
183Ectropion (HP:0000656)1.58937602
184Chronic diarrhea (HP:0002028)1.58362342
185Albinism (HP:0001022)1.58302251
186Relative macrocephaly (HP:0004482)1.55779284
187Abnormality of the astrocytes (HP:0100707)1.55669564
188Astrocytoma (HP:0009592)1.55669564
189Myelomeningocele (HP:0002475)1.55600384
190Pulmonic stenosis (HP:0001642)1.54222871
191Medial flaring of the eyebrow (HP:0010747)1.54167257

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK3.94506522
2INSRR3.67246857
3TNIK3.65938890
4BLK3.33947525
5MKNK23.27072626
6MAP3K43.20628272
7SCYL22.59492949
8MAP3K62.58307227
9TAOK32.44536509
10CDK122.37752052
11ZAK2.29514136
12IRAK42.04421595
13TRPM72.01571120
14STK161.93185242
15MKNK11.90471656
16ERBB31.89940093
17SIK31.89185820
18MAP3K141.83428186
19FLT31.82415073
20TXK1.81231466
21IRAK31.75825587
22SIK21.74436600
23NUAK11.74075631
24MAP4K21.71439982
25MAP3K131.70886489
26NEK91.69549321
27NTRK31.68722025
28BRD41.68552728
29MAPK111.64838993
30NEK61.64009571
31GRK11.53074729
32MET1.52801312
33EIF2AK21.50304888
34MAPK131.45479574
35PLK41.40632193
36YES11.37722912
37FER1.32488420
38ADRBK21.31264480
39PIK3CA1.30682029
40MAP3K71.27490211
41PKN11.27485048
42FRK1.27457509
43IRAK21.23345772
44EIF2AK31.21952057
45CDK31.19965341
46RIPK41.19889925
47SRPK11.19166189
48BMPR21.18910345
49ICK1.18613398
50MAP2K41.17810265
51CAMK1G1.17640152
52MST1R1.15865841
53NLK1.13539155
54CCNB11.12631986
55WNK31.09057072
56AKT31.07952903
57MAPK151.06754782
58PDGFRA1.06710050
59TEC1.04923266
60PINK11.03679517
61BRSK21.02370498
62IRAK10.99600706
63MUSK0.98317665
64TIE10.94136978
65MAP2K70.93903074
66PRKAA10.93399294
67PTK2B0.91803047
68PLK20.87564096
69RET0.85909703
70BMPR1B0.85852985
71EPHA30.84185348
72EPHA40.83430144
73FGFR30.82130921
74CAMKK20.82045037
75PRKCE0.80411435
76BCR0.80227705
77SGK20.80210436
78ATM0.78676891
79MTOR0.78626594
80PDGFRB0.77485040
81SIK10.76148504
82DYRK1B0.73530922
83MARK20.73415625
84PRKD20.72307229
85STK380.71862294
86WNK10.71485594
87MARK30.70249165
88GRK70.70097393
89CHEK10.69325450
90PDK20.68617673
91PKN20.67267702
92CAMK1D0.65900525
93CDC42BPA0.63414184
94FES0.61556609
95CHUK0.60291367
96ATR0.58697883
97CAMK10.58504910
98PRKCQ0.58161909
99DMPK0.57341220
100STK390.56215201
101PRKAA20.55915438
102KIT0.55862870
103STK30.55623048
104PBK0.54469004
105PIK3CG0.54207193
106STK240.54201938
107PAK20.53939594
108CDK60.53031859
109STK40.52079928
110BTK0.51708905
111LYN0.51618063
112HIPK20.49134340
113OXSR10.48981411
114TTN0.48618435
115CDK90.47813695
116RPS6KA40.47344809
117PRKG10.46591995
118ABL10.46467830
119MAP2K20.45973596
120CSNK1G10.45541998
121ACVR1B0.45274355
122IKBKE0.45131894
123CAMK2A0.44791210
124LATS10.44717948
125CDK80.44388948
126SGK10.44183388
127CSNK1A1L0.43980543
128NTRK20.43665801
129MELK0.43142023
130CSF1R0.42581097
131CDK10.42072378
132MAPK10.41550315
133SGK2230.41237933
134SGK4940.41237933
135FGR0.40880454
136MAPK100.40368757
137CDK20.40154485
138EIF2AK10.39911442
139JAK10.39861552
140CAMK40.38421902
141DYRK1A0.38289233
142IKBKB0.37790258
143CDK40.37653898
144RPS6KB10.37554464
145CLK10.37166805
146PNCK0.36371416
147EGFR0.36362523
148MAPK70.35289037
149WNK40.34678822
150CAMK2D0.32351659
151PAK30.32026042
152SGK30.31447633
153PTK20.30932949
154TNK20.29801598
155CAMK2B0.29381716
156PRKACA0.28848380
157LCK0.28533197
158STK38L0.28297714

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.16562478
2Nicotine addiction_Homo sapiens_hsa050332.97318282
3Maturity onset diabetes of the young_Homo sapiens_hsa049502.25714651
4Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.22916912
5Phototransduction_Homo sapiens_hsa047442.07863706
6Taste transduction_Homo sapiens_hsa047422.05292060
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.01394354
8Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.95025983
9Fanconi anemia pathway_Homo sapiens_hsa034601.93379133
10Sphingolipid metabolism_Homo sapiens_hsa006001.88498760
11Non-small cell lung cancer_Homo sapiens_hsa052231.83036809
12Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.79413620
13Colorectal cancer_Homo sapiens_hsa052101.79325288
14Steroid hormone biosynthesis_Homo sapiens_hsa001401.77214373
15Chronic myeloid leukemia_Homo sapiens_hsa052201.76848473
16Endometrial cancer_Homo sapiens_hsa052131.72695104
17Inositol phosphate metabolism_Homo sapiens_hsa005621.71444976
18Morphine addiction_Homo sapiens_hsa050321.69940738
19Pancreatic cancer_Homo sapiens_hsa052121.68599664
20Systemic lupus erythematosus_Homo sapiens_hsa053221.63625448
21Small cell lung cancer_Homo sapiens_hsa052221.59697443
22mTOR signaling pathway_Homo sapiens_hsa041501.58779583
23Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.57105250
24Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.54832914
25Serotonergic synapse_Homo sapiens_hsa047261.53044830
26Hepatitis B_Homo sapiens_hsa051611.46601770
27Insulin resistance_Homo sapiens_hsa049311.40353544
28Glutamatergic synapse_Homo sapiens_hsa047241.39058945
29Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.38975624
30Prostate cancer_Homo sapiens_hsa052151.37954755
31Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.37180568
32Adherens junction_Homo sapiens_hsa045201.36616467
33Pentose and glucuronate interconversions_Homo sapiens_hsa000401.35964882
34Rheumatoid arthritis_Homo sapiens_hsa053231.35885398
35MicroRNAs in cancer_Homo sapiens_hsa052061.34326815
36Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.30709978
37NF-kappa B signaling pathway_Homo sapiens_hsa040641.30651570
38Retinol metabolism_Homo sapiens_hsa008301.29471555
39Other glycan degradation_Homo sapiens_hsa005111.29347483
40Alcoholism_Homo sapiens_hsa050341.27855120
41RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.27793106
42Platelet activation_Homo sapiens_hsa046111.27707566
43Vitamin digestion and absorption_Homo sapiens_hsa049771.26821528
44Non-homologous end-joining_Homo sapiens_hsa034501.26645396
45Viral carcinogenesis_Homo sapiens_hsa052031.26416805
46TGF-beta signaling pathway_Homo sapiens_hsa043501.26201552
47Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.26198838
48Calcium signaling pathway_Homo sapiens_hsa040201.24744045
49Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.24120715
50Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.24003276
51Autoimmune thyroid disease_Homo sapiens_hsa053201.22584056
52Fatty acid biosynthesis_Homo sapiens_hsa000611.19968490
53ABC transporters_Homo sapiens_hsa020101.19731905
54Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.15733520
55Thyroid cancer_Homo sapiens_hsa052161.14841240
56Collecting duct acid secretion_Homo sapiens_hsa049661.13892678
57ErbB signaling pathway_Homo sapiens_hsa040121.13587030
58Insulin secretion_Homo sapiens_hsa049111.13072961
59ECM-receptor interaction_Homo sapiens_hsa045121.10939685
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.10223890
61Thyroid hormone signaling pathway_Homo sapiens_hsa049191.10131579
62Focal adhesion_Homo sapiens_hsa045101.09534924
63Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.09447759
64Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.09375806
65Salivary secretion_Homo sapiens_hsa049701.07316973
66Primary bile acid biosynthesis_Homo sapiens_hsa001201.06196905
67Acute myeloid leukemia_Homo sapiens_hsa052211.06088118
68Intestinal immune network for IgA production_Homo sapiens_hsa046721.04734551
69Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.04268047
70p53 signaling pathway_Homo sapiens_hsa041151.03927412
71GABAergic synapse_Homo sapiens_hsa047271.03374074
72Hematopoietic cell lineage_Homo sapiens_hsa046401.02253448
73cAMP signaling pathway_Homo sapiens_hsa040241.01929657
74African trypanosomiasis_Homo sapiens_hsa051431.01392715
75Longevity regulating pathway - mammal_Homo sapiens_hsa042111.01366442
76Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.00943753
77Prolactin signaling pathway_Homo sapiens_hsa049170.99918918
78Allograft rejection_Homo sapiens_hsa053300.99806165
79Graft-versus-host disease_Homo sapiens_hsa053320.99753500
80Circadian entrainment_Homo sapiens_hsa047130.98990806
81FoxO signaling pathway_Homo sapiens_hsa040680.97545070
82Staphylococcus aureus infection_Homo sapiens_hsa051500.97453709
83Base excision repair_Homo sapiens_hsa034100.97255823
84Primary immunodeficiency_Homo sapiens_hsa053400.96431255
85Glioma_Homo sapiens_hsa052140.94625815
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.92554740
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.92525450
88Regulation of autophagy_Homo sapiens_hsa041400.90898573
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.90341350
90Cell cycle_Homo sapiens_hsa041100.88320782
91Proteoglycans in cancer_Homo sapiens_hsa052050.87835678
92Axon guidance_Homo sapiens_hsa043600.87812708
93Transcriptional misregulation in cancer_Homo sapiens_hsa052020.84205991
94AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.83491925
95Insulin signaling pathway_Homo sapiens_hsa049100.82944976
96Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.81712897
97Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.81696429
98Glycosaminoglycan degradation_Homo sapiens_hsa005310.81072959
99Lysine degradation_Homo sapiens_hsa003100.79449255
100Steroid biosynthesis_Homo sapiens_hsa001000.79018801
101Propanoate metabolism_Homo sapiens_hsa006400.78778544
102Central carbon metabolism in cancer_Homo sapiens_hsa052300.78656624
103B cell receptor signaling pathway_Homo sapiens_hsa046620.78194764
104Ether lipid metabolism_Homo sapiens_hsa005650.77820441
105Melanoma_Homo sapiens_hsa052180.77614374
106Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.76896480
107Ovarian steroidogenesis_Homo sapiens_hsa049130.76087608
108Shigellosis_Homo sapiens_hsa051310.76075870
109Renal cell carcinoma_Homo sapiens_hsa052110.75983841
110Cocaine addiction_Homo sapiens_hsa050300.75784056
111Hepatitis C_Homo sapiens_hsa051600.75746167
112Olfactory transduction_Homo sapiens_hsa047400.73826978
113One carbon pool by folate_Homo sapiens_hsa006700.73594577
114Protein export_Homo sapiens_hsa030600.72684101
115Dorso-ventral axis formation_Homo sapiens_hsa043200.71188790
116Complement and coagulation cascades_Homo sapiens_hsa046100.70251847
117Histidine metabolism_Homo sapiens_hsa003400.70246697
118Adipocytokine signaling pathway_Homo sapiens_hsa049200.69845862
119Arachidonic acid metabolism_Homo sapiens_hsa005900.69393840
120PI3K-Akt signaling pathway_Homo sapiens_hsa041510.68251651
121Cholinergic synapse_Homo sapiens_hsa047250.67547125
122Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.67486395
123Long-term depression_Homo sapiens_hsa047300.66346228
124Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.65092209
125Apoptosis_Homo sapiens_hsa042100.63983444
126Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63424399
127Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.63258311
128Malaria_Homo sapiens_hsa051440.62973206
129Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.62178856
130Mineral absorption_Homo sapiens_hsa049780.62087559
131Asthma_Homo sapiens_hsa053100.61530138
132Glucagon signaling pathway_Homo sapiens_hsa049220.61484533
133Type I diabetes mellitus_Homo sapiens_hsa049400.60930306
134RNA transport_Homo sapiens_hsa030130.60749312
135Homologous recombination_Homo sapiens_hsa034400.60110622
136Herpes simplex infection_Homo sapiens_hsa051680.60050797
137Measles_Homo sapiens_hsa051620.59815517
138Amphetamine addiction_Homo sapiens_hsa050310.59675341
139Gastric acid secretion_Homo sapiens_hsa049710.59665875
140Type II diabetes mellitus_Homo sapiens_hsa049300.59640125
141Pathways in cancer_Homo sapiens_hsa052000.59561407
142RNA degradation_Homo sapiens_hsa030180.58839250
143Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.58469581
144Phospholipase D signaling pathway_Homo sapiens_hsa040720.57582926
145AMPK signaling pathway_Homo sapiens_hsa041520.57506163
146Pancreatic secretion_Homo sapiens_hsa049720.57096207
147Aldosterone synthesis and secretion_Homo sapiens_hsa049250.56939504
148beta-Alanine metabolism_Homo sapiens_hsa004100.56472313
149Vascular smooth muscle contraction_Homo sapiens_hsa042700.56258626
150Phosphatidylinositol signaling system_Homo sapiens_hsa040700.56235261
151Sphingolipid signaling pathway_Homo sapiens_hsa040710.55614861
152Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.55066184
153Toxoplasmosis_Homo sapiens_hsa051450.54996887
154Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.54462010
155Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.54232533
156cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53586451
157Peroxisome_Homo sapiens_hsa041460.52893534
158Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.52395653
159N-Glycan biosynthesis_Homo sapiens_hsa005100.51531684
160Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.51483905
161Circadian rhythm_Homo sapiens_hsa047100.51340928
162TNF signaling pathway_Homo sapiens_hsa046680.51295598
163Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50868419
164Renin secretion_Homo sapiens_hsa049240.50469318
165Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49512901
166Influenza A_Homo sapiens_hsa051640.49185404
167Regulation of actin cytoskeleton_Homo sapiens_hsa048100.48833211
168Starch and sucrose metabolism_Homo sapiens_hsa005000.48306320
169Sulfur metabolism_Homo sapiens_hsa009200.47518767
170Ras signaling pathway_Homo sapiens_hsa040140.47452056
171mRNA surveillance pathway_Homo sapiens_hsa030150.47310431
172Chemical carcinogenesis_Homo sapiens_hsa052040.46089980
173Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.46028242
174Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.45274592
175Jak-STAT signaling pathway_Homo sapiens_hsa046300.44619049
176NOD-like receptor signaling pathway_Homo sapiens_hsa046210.43976037
177Toll-like receptor signaling pathway_Homo sapiens_hsa046200.42058590
178Chemokine signaling pathway_Homo sapiens_hsa040620.41758263
179Choline metabolism in cancer_Homo sapiens_hsa052310.38716561

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