MIP

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: Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* visual perception (GO:0007601)9.14254595
2* sensory perception of light stimulus (GO:0050953)9.03285205
3camera-type eye development (GO:0043010)8.61371671
4cytolysis (GO:0019835)8.35229748
5muscle cell cellular homeostasis (GO:0046716)7.64532409
6protein refolding (GO:0042026)7.64270127
7histone H3-K9 demethylation (GO:0033169)7.57247859
8regulation of protein sumoylation (GO:0033233)7.24273807
9eye development (GO:0001654)6.97917191
10cellular response to osmotic stress (GO:0071470)6.92026662
11myofibril assembly (GO:0030239)6.36375996
12sensory organ development (GO:0007423)5.36310478
13positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)5.10973910
14response to salt stress (GO:0009651)4.95759036
15DNA deamination (GO:0045006)4.81583756
16negative regulation of homotypic cell-cell adhesion (GO:0034111)4.70448884
17chaperone-mediated protein transport (GO:0072321)4.61755803
18mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.50188637
19mitochondrial respiratory chain complex I assembly (GO:0032981)4.50188637
20NADH dehydrogenase complex assembly (GO:0010257)4.50188637
21proteasome assembly (GO:0043248)4.49365521
22insulin-like growth factor receptor signaling pathway (GO:0048009)4.48980998
23sarcomere organization (GO:0045214)4.43862447
24protein complex biogenesis (GO:0070271)4.42926713
25microtubule depolymerization (GO:0007019)4.41574867
26mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.25289364
27* sensory perception (GO:0007600)4.23977836
28establishment of protein localization to mitochondrial membrane (GO:0090151)4.23780278
29rRNA modification (GO:0000154)4.21299596
30respiratory chain complex IV assembly (GO:0008535)4.16859775
31mitochondrial respiratory chain complex assembly (GO:0033108)4.15867603
32mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.15063882
33regulation of myoblast differentiation (GO:0045661)4.14996472
34positive regulation of dendritic spine morphogenesis (GO:0061003)4.05257104
35* lens development in camera-type eye (GO:0002088)35.0908887
36neuron fate determination (GO:0048664)3.94745457
37rRNA methylation (GO:0031167)3.84953981
38ATP synthesis coupled proton transport (GO:0015986)3.83586328
39energy coupled proton transport, down electrochemical gradient (GO:0015985)3.83586328
40synapsis (GO:0007129)3.83311559
41cytochrome complex assembly (GO:0017004)3.82930575
42protein homotrimerization (GO:0070207)3.81344610
43water-soluble vitamin biosynthetic process (GO:0042364)3.81218207
44nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.75880747
45exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.75008403
46replication fork processing (GO:0031297)3.71526691
47RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.59126309
48respiratory electron transport chain (GO:0022904)3.58586415
49electron transport chain (GO:0022900)3.56615985
50pseudouridine synthesis (GO:0001522)3.56411629
51negative regulation of DNA-dependent DNA replication (GO:2000104)3.52712838
52male meiosis I (GO:0007141)3.49622828
53regulation of nuclear cell cycle DNA replication (GO:0033262)3.48312501
54lung epithelium development (GO:0060428)3.46704792
55regulation of platelet aggregation (GO:0090330)3.44315916
56meiotic chromosome segregation (GO:0045132)3.38923607
57resolution of meiotic recombination intermediates (GO:0000712)3.36124063
58DNA double-strand break processing (GO:0000729)3.32075875
59piRNA metabolic process (GO:0034587)3.31279875
60protein neddylation (GO:0045116)3.30515424
61preassembly of GPI anchor in ER membrane (GO:0016254)3.26187583
62protein-cofactor linkage (GO:0018065)3.25059609
63termination of RNA polymerase III transcription (GO:0006386)3.23798005
64transcription elongation from RNA polymerase III promoter (GO:0006385)3.23798005
65somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.22261130
66somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.22261130
67isotype switching (GO:0045190)3.22261130
68regulation of skeletal muscle fiber development (GO:0048742)3.21012693
69positive regulation of calcium ion transport into cytosol (GO:0010524)3.19823680
70positive regulation of wound healing (GO:0090303)3.17867255
71response to pheromone (GO:0019236)3.14957440
72recombinational repair (GO:0000725)3.13416662
73double-strand break repair via homologous recombination (GO:0000724)3.13215799
74regulation of Rac protein signal transduction (GO:0035020)3.10825933
75regulation of meiosis I (GO:0060631)3.10125032
76hematopoietic stem cell proliferation (GO:0071425)3.04435089
77cellular response to calcium ion (GO:0071277)3.03357595
78inner mitochondrial membrane organization (GO:0007007)3.02430949
79meiosis I (GO:0007127)3.02429963
80maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.00650386
81lens fiber cell development (GO:0070307)27.7971734
82lens fiber cell differentiation (GO:0070306)21.9999107
83regulation of cilium movement (GO:0003352)2.96991660
84platelet dense granule organization (GO:0060155)2.96225747
85intermediate filament cytoskeleton organization (GO:0045104)2.96223174
86activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.93371028
87DNA methylation involved in gamete generation (GO:0043046)2.92854808
88folic acid-containing compound biosynthetic process (GO:0009396)2.91131978
89GPI anchor biosynthetic process (GO:0006506)2.87996474
90L-alpha-amino acid transmembrane transport (GO:1902475)2.87633107
91DNA replication checkpoint (GO:0000076)2.85246357
92intermediate filament-based process (GO:0045103)2.83536318
93male meiosis (GO:0007140)2.82910651
94intracellular protein transmembrane import (GO:0044743)2.81950761
95CENP-A containing nucleosome assembly (GO:0034080)2.81538837
96reciprocal DNA recombination (GO:0035825)2.81369000
97reciprocal meiotic recombination (GO:0007131)2.81369000
98chromatin remodeling at centromere (GO:0031055)2.80762860
99protein K11-linked ubiquitination (GO:0070979)2.80482589
100protein targeting to mitochondrion (GO:0006626)2.80464159
101regulation of DNA endoreduplication (GO:0032875)2.80395014
102GPI anchor metabolic process (GO:0006505)2.79348892
103tRNA modification (GO:0006400)2.76882684
104tRNA processing (GO:0008033)2.76789530
105skeletal muscle organ development (GO:0060538)2.76301643
106hepatocyte differentiation (GO:0070365)2.73518702
107protein localization to mitochondrion (GO:0070585)2.72914439
108negative regulation of cell aging (GO:0090344)2.72766609
109attachment of spindle microtubules to kinetochore (GO:0008608)2.72525088
110dopaminergic neuron differentiation (GO:0071542)2.71334503
111negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.71292415
112cellular ketone body metabolic process (GO:0046950)2.70885592
113mismatch repair (GO:0006298)2.70782393
114response to activity (GO:0014823)2.68489284
115DNA catabolic process, exonucleolytic (GO:0000738)2.68453018
116establishment of protein localization to mitochondrion (GO:0072655)2.67450324
117mitotic sister chromatid segregation (GO:0000070)2.67154576
118regulation of helicase activity (GO:0051095)2.64570244
119cerebellar granule cell differentiation (GO:0021707)2.62112108
120histone lysine demethylation (GO:0070076)2.61145441
121regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:22.60275559
122pteridine-containing compound biosynthetic process (GO:0042559)2.59607736
123positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc2.58174140
124positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.57220120
125epithelial cell development (GO:0002064)2.56443686
126negative regulation of telomere maintenance (GO:0032205)2.56244307
127organelle disassembly (GO:1903008)2.54528556
128telomere maintenance via semi-conservative replication (GO:0032201)2.53316272
129hydrogen ion transmembrane transport (GO:1902600)2.53213877
130negative regulation of platelet activation (GO:0010544)2.53066807
131mitochondrial RNA metabolic process (GO:0000959)2.52426437
132meiotic nuclear division (GO:0007126)2.51123572
133diaphragm development (GO:0060539)2.50991955
134regulation of myotube differentiation (GO:0010830)2.50869522
135histone exchange (GO:0043486)2.50740078
136DNA strand elongation involved in DNA replication (GO:0006271)2.50344390
137regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.50335228
138activation of JUN kinase activity (GO:0007257)2.49203427
139peptidyl-histidine modification (GO:0018202)2.48494705
140negative regulation of ligase activity (GO:0051352)2.47139726
141negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.47139726
142microtubule polymerization or depolymerization (GO:0031109)2.47065718
143regulation of chronic inflammatory response (GO:0002676)2.46268384
144DNA strand elongation (GO:0022616)2.45640350
145histone demethylation (GO:0016577)2.44001103
146respiratory tube development (GO:0030323)2.42769288
147mating behavior (GO:0007617)2.42201313
148lung-associated mesenchyme development (GO:0060484)2.40715640
149regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.36084045
150actomyosin structure organization (GO:0031032)2.35091575
151protein localization to cell surface (GO:0034394)2.28360575
152regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.26376885
153basement membrane organization (GO:0071711)2.25533575
154cell-cell junction assembly (GO:0007043)2.24892164
155positive regulation of dendrite morphogenesis (GO:0050775)2.21228822
156response to osmotic stress (GO:0006970)2.18138432
157positive regulation of dendritic spine development (GO:0060999)2.14450545
158prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.14427292
159regulation of homotypic cell-cell adhesion (GO:0034110)2.12976094
160protein demethylation (GO:0006482)2.12570325
161protein dealkylation (GO:0008214)2.12570325
162negative regulation of cell size (GO:0045792)2.11995463
163axon ensheathment in central nervous system (GO:0032291)2.06947264
164central nervous system myelination (GO:0022010)2.06947264
165protein trimerization (GO:0070206)2.06764856
166neuronal stem cell maintenance (GO:0097150)2.05725213
167collecting duct development (GO:0072044)2.05637162
168regulation of hippo signaling (GO:0035330)2.05293898
169apoptotic process involved in development (GO:1902742)2.00235645
170lens morphogenesis in camera-type eye (GO:0002089)10.9275472
171response to muscle activity (GO:0014850)10.6545976
172negative regulation of hormone metabolic process (GO:0032351)1.99880677
173negative regulation of hormone biosynthetic process (GO:0032353)1.99880677
174bone trabecula formation (GO:0060346)1.98720168
175dorsal/ventral axis specification (GO:0009950)1.97774313
176apoptotic process involved in morphogenesis (GO:0060561)1.97726483
177negative regulation of JUN kinase activity (GO:0043508)1.95640997
178cytoskeletal anchoring at plasma membrane (GO:0007016)1.95609138
179positive regulation of developmental growth (GO:0048639)1.90875261
180cell maturation (GO:0048469)1.90556815
181negative regulation of fibroblast apoptotic process (GO:2000270)1.90278120
182metanephric nephron tubule development (GO:0072234)1.90148212
183metanephric tubule development (GO:0072170)1.90148212
184regulation of striated muscle cell differentiation (GO:0051153)1.89666106
185planar cell polarity pathway involved in neural tube closure (GO:0090179)1.89466332
186cellular response to vitamin D (GO:0071305)1.88743986
187negative regulation of potassium ion transmembrane transport (GO:1901380)1.86960435
188anatomical structure regression (GO:0060033)1.86219263
189organ growth (GO:0035265)1.81908177
190negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.79649890
191regulation of skeletal muscle tissue development (GO:0048641)1.78426470
192regulation of dendritic spine morphogenesis (GO:0061001)1.76960011
193cellular response to prostaglandin stimulus (GO:0071379)1.73132267
194carnitine shuttle (GO:0006853)1.72101092
195cartilage morphogenesis (GO:0060536)1.70582492
196regulation of non-canonical Wnt signaling pathway (GO:2000050)1.69484377
197metanephric nephron epithelium development (GO:0072243)1.69298009
198regulation of bile acid biosynthetic process (GO:0070857)1.65900467
199regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)1.64851745
200cell proliferation in forebrain (GO:0021846)1.64534116

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse9.65551646
2GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse7.04801992
3ZNF652_21678463_ChIP-ChIP_ZR75-1_Human5.38935394
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.75416755
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.61619174
6GABP_17652178_ChIP-ChIP_JURKAT_Human4.07796301
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.95549237
8PCGF2_27294783_Chip-Seq_NPCs_Mouse3.82279300
9FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.60252415
10CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.54064293
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.46500139
12IKZF1_21737484_ChIP-ChIP_HCT116_Human3.19189193
13E2F7_22180533_ChIP-Seq_HELA_Human3.13328208
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.95147015
15EGR1_19032775_ChIP-ChIP_M12_Human2.84103474
16MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.77923561
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.74705698
18VDR_23849224_ChIP-Seq_CD4+_Human2.59575567
19ELK1_19687146_ChIP-ChIP_HELA_Human2.54706361
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.50267914
21E2F4_17652178_ChIP-ChIP_JURKAT_Human2.48762836
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.43191670
23HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.42511412
24SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.40170770
25BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.36640133
26NFE2_27457419_Chip-Seq_LIVER_Mouse2.35189086
27CREB1_15753290_ChIP-ChIP_HEK293T_Human2.33992169
28FOXP3_21729870_ChIP-Seq_TREG_Human2.22364385
29SUZ12_27294783_Chip-Seq_NPCs_Mouse2.15842865
30EGR1_19374776_ChIP-ChIP_THP-1_Human2.11797479
31SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.10811475
32PADI4_21655091_ChIP-ChIP_MCF-7_Human2.10165226
33EZH2_22144423_ChIP-Seq_EOC_Human2.06701840
34* MYC_18940864_ChIP-ChIP_HL60_Human2.05343582
35NANOG_16153702_ChIP-ChIP_HESCs_Human2.03861631
36NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.00688542
37EZH2_18974828_ChIP-Seq_MESCs_Mouse1.94914393
38RNF2_18974828_ChIP-Seq_MESCs_Mouse1.94914393
39JARID2_20064375_ChIP-Seq_MESCs_Mouse1.92701113
40SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.87778265
41EWS_26573619_Chip-Seq_HEK293_Human1.84992583
42ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84322044
43MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.83572210
44ELF1_17652178_ChIP-ChIP_JURKAT_Human1.83494496
45EZH2_27294783_Chip-Seq_NPCs_Mouse1.82858439
46TAF15_26573619_Chip-Seq_HEK293_Human1.79186864
47MYC_18555785_ChIP-Seq_MESCs_Mouse1.78490558
48SRF_21415370_ChIP-Seq_HL-1_Mouse1.73027317
49FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.72047354
50FUS_26573619_Chip-Seq_HEK293_Human1.70642089
51FLI1_27457419_Chip-Seq_LIVER_Mouse1.70009453
52PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.68068608
53DCP1A_22483619_ChIP-Seq_HELA_Human1.67149844
54CTCF_18555785_Chip-Seq_ESCs_Mouse1.66923303
55FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.65403691
56POU3F2_20337985_ChIP-ChIP_501MEL_Human1.64502109
57SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.64326663
58EED_16625203_ChIP-ChIP_MESCs_Mouse1.60656846
59SMAD1_18555785_Chip-Seq_ESCs_Mouse1.60308478
60IRF1_19129219_ChIP-ChIP_H3396_Human1.60244155
61SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.59193057
62NOTCH1_21737748_ChIP-Seq_TLL_Human1.56078874
63RUNX1_27457419_Chip-Seq_LIVER_Mouse1.56018869
64SOX2_22085726_ChIP-Seq_NPCs_Mouse1.55466279
65GATA3_24758297_ChIP-Seq_MCF-7_Human1.53993798
66RNF2_27304074_Chip-Seq_ESCs_Mouse1.52771245
67NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.52561253
68ZFP57_27257070_Chip-Seq_ESCs_Mouse1.52023017
69YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.49150602
70SALL1_21062744_ChIP-ChIP_HESCs_Human1.48947897
71TP53_22573176_ChIP-Seq_HFKS_Human1.47199027
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46890064
73JARID2_20075857_ChIP-Seq_MESCs_Mouse1.44967039
74CBX2_27304074_Chip-Seq_ESCs_Mouse1.44043527
75GABP_19822575_ChIP-Seq_HepG2_Human1.43736477
76TTF2_22483619_ChIP-Seq_HELA_Human1.43324636
77MYC_19030024_ChIP-ChIP_MESCs_Mouse1.42718331
78MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.41716355
79GATA1_22025678_ChIP-Seq_K562_Human1.41090309
80PU1_27457419_Chip-Seq_LIVER_Mouse1.40864862
81EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.37866828
82CTCF_27219007_Chip-Seq_Bcells_Human1.37072184
83PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.36625376
84EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.36406068
85MTF2_20144788_ChIP-Seq_MESCs_Mouse1.34392147
86TP63_19390658_ChIP-ChIP_HaCaT_Human1.32355407
87CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.31349020
88TBX3_20139965_ChIP-Seq_MESCs_Mouse1.30014711
89MYC_18358816_ChIP-ChIP_MESCs_Mouse1.29934091
90TBX3_20139965_ChIP-Seq_ESCs_Mouse1.29167164
91ELK1_22589737_ChIP-Seq_MCF10A_Human1.28655861
92TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28317505
93WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.27999678
94EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.27999498
95KDM5A_27292631_Chip-Seq_BREAST_Human1.27167418
96MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.26985920
97HOXB4_20404135_ChIP-ChIP_EML_Mouse1.26147488
98ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.26009220
99CDX2_19796622_ChIP-Seq_MESCs_Mouse1.26000899
100ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.25674417
101JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.24247528
102TCF3_18692474_ChIP-Seq_MEFs_Mouse1.22798755
103EZH2_27294783_Chip-Seq_ESCs_Mouse1.22193292
104P53_22387025_ChIP-Seq_ESCs_Mouse1.21574829
105E2F1_18555785_ChIP-Seq_MESCs_Mouse1.21095740
106TP53_20018659_ChIP-ChIP_R1E_Mouse1.19317130
107EZH2_27304074_Chip-Seq_ESCs_Mouse1.18898755
108TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.18691261
109POU5F1_16153702_ChIP-ChIP_HESCs_Human1.18187379
110RING1B_27294783_Chip-Seq_NPCs_Mouse1.17780043
111YY1_21170310_ChIP-Seq_MESCs_Mouse1.17334371
112JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16804882
113TP63_17297297_ChIP-ChIP_HaCaT_Human1.15881466
114IGF1R_20145208_ChIP-Seq_DFB_Human1.15680747
115CRX_20693478_ChIP-Seq_RETINA_Mouse1.15108893
116P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14369334
117OCT4_21477851_ChIP-Seq_ESCs_Mouse1.13603277
118HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13563004
119SMC3_22415368_ChIP-Seq_MEFs_Mouse1.12655102
120SOX2_16153702_ChIP-ChIP_HESCs_Human1.11184346
121CTBP2_25329375_ChIP-Seq_LNCAP_Human1.10972447
122P300_19829295_ChIP-Seq_ESCs_Human1.10742187
123XRN2_22483619_ChIP-Seq_HELA_Human1.09175218
124E2F1_21310950_ChIP-Seq_MCF-7_Human1.08737706
125CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08347930
126SOX2_18555785_Chip-Seq_ESCs_Mouse1.08339573
127EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.08223556
128LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.07575695
129SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.06981887
130EP300_21415370_ChIP-Seq_HL-1_Mouse1.06919289
131SALL4_22934838_ChIP-ChIP_CD34+_Human1.06499552
132RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05310851
133KLF4_18555785_Chip-Seq_ESCs_Mouse1.05297085
134EGR1_23403033_ChIP-Seq_LIVER_Mouse1.04993826
135GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.04987949
136THAP11_20581084_ChIP-Seq_MESCs_Mouse1.04799141
137GATA1_19941827_ChIP-Seq_MEL86_Mouse1.04735055
138ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.04513780
139PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.03533592
140SALL4_18804426_ChIP-ChIP_XEN_Mouse1.02416395
141CTBP1_25329375_ChIP-Seq_LNCAP_Human1.02274153
142RING1B_27294783_Chip-Seq_ESCs_Mouse1.02106999
143TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.01149168
144AR_20517297_ChIP-Seq_VCAP_Human0.98779667
145HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.97544712
146LXR_22292898_ChIP-Seq_THP-1_Human0.96722557
147GBX2_23144817_ChIP-Seq_PC3_Human0.96658612
148HTT_18923047_ChIP-ChIP_STHdh_Human0.96189889
149MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.95824377
150UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95624187
151RNF2_27304074_Chip-Seq_NSC_Mouse0.95353448
152FOXA2_19822575_ChIP-Seq_HepG2_Human0.95171420
153RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.94580096
154CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.94326344
155MYCN_18555785_ChIP-Seq_MESCs_Mouse0.93281898
156P300_18555785_Chip-Seq_ESCs_Mouse0.93133132
157E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.92790559
158ZFX_18555785_Chip-Seq_ESCs_Mouse0.92594259
159SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92386437
160FOXA1_27270436_Chip-Seq_PROSTATE_Human0.92188012
161FOXA1_25329375_ChIP-Seq_VCAP_Human0.92188012
162SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.91979069
163PCGF2_27294783_Chip-Seq_ESCs_Mouse0.91526339
164RBPJ_22232070_ChIP-Seq_NCS_Mouse0.91519863
165AUTS2_25519132_ChIP-Seq_293T-REX_Human0.90305876
166POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.89977216
167NELFA_20434984_ChIP-Seq_ESCs_Mouse0.89385283
168OCT4_18692474_ChIP-Seq_MEFs_Mouse0.89213034
169ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.88631385
170ER_23166858_ChIP-Seq_MCF-7_Human0.88370468
171VDR_22108803_ChIP-Seq_LS180_Human0.87459071
172SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.87314433
173HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.87204532
174SOX2_19829295_ChIP-Seq_ESCs_Human0.85928549
175NANOG_19829295_ChIP-Seq_ESCs_Human0.85928549
176PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.85353281
177SMAD3_21741376_ChIP-Seq_ESCs_Human0.84953509
178ELK3_25401928_ChIP-Seq_HUVEC_Human0.84447001
179KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.84304419
180ZNF217_24962896_ChIP-Seq_MCF-7_Human0.84158670
181TCF4_22108803_ChIP-Seq_LS180_Human0.83758526
182PHF8_20622853_ChIP-Seq_HELA_Human0.83720307
183OCT4_19829295_ChIP-Seq_ESCs_Human0.83594115
184* MYC_19079543_ChIP-ChIP_MESCs_Mouse0.82940493
185PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.81964217
186SUZ12_27294783_Chip-Seq_ESCs_Mouse0.80036906
187RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.80027170
188FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.79640398
189CMYC_18555785_Chip-Seq_ESCs_Mouse0.79160462
190CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.79054534
191ZNF274_21170338_ChIP-Seq_K562_Hela0.78696846

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye9.18559152
2MP0001286_abnormal_eye_development4.13016735
3MP0008877_abnormal_DNA_methylation4.08616664
4MP0002092_abnormal_eye_morphology4.00776756
5* MP0005253_abnormal_eye_physiology3.99126095
6MP0003941_abnormal_skin_development3.89950240
7MP0003195_calcinosis3.89663584
8MP0005197_abnormal_uvea_morphology3.83976482
9MP0000749_muscle_degeneration3.77711731
10MP0008058_abnormal_DNA_repair3.14329986
11MP0003693_abnormal_embryo_hatching2.97118439
12* MP0005391_vision/eye_phenotype2.79682763
13MP0010094_abnormal_chromosome_stability2.65276054
14MP0008057_abnormal_DNA_replication2.57332897
15MP0002090_abnormal_vision2.36026142
16MP0003718_maternal_effect2.31102540
17MP0001346_abnormal_lacrimal_gland2.20814765
18MP0000516_abnormal_urinary_system2.12334744
19MP0005367_renal/urinary_system_phenotyp2.12334744
20MP0005646_abnormal_pituitary_gland2.11992343
21MP0001764_abnormal_homeostasis2.11742510
22MP0006036_abnormal_mitochondrial_physio2.03281026
23* MP0002697_abnormal_eye_size13.9927238
24MP0002938_white_spotting1.99656786
25MP0003111_abnormal_nucleus_morphology1.96321469
26MP0002234_abnormal_pharynx_morphology1.90215645
27MP0000427_abnormal_hair_cycle1.87970577
28MP0001529_abnormal_vocalization1.84816952
29MP0006276_abnormal_autonomic_nervous1.79629074
30MP0004742_abnormal_vestibular_system1.77568869
31MP0002837_dystrophic_cardiac_calcinosis1.68576317
32MP0004147_increased_porphyrin_level1.68089490
33MP0006035_abnormal_mitochondrial_morpho1.66169950
34MP0002108_abnormal_muscle_morphology1.64833531
35MP0002638_abnormal_pupillary_reflex1.60327249
36MP0004957_abnormal_blastocyst_morpholog1.59541208
37MP0002210_abnormal_sex_determination1.59500832
38MP0000569_abnormal_digit_pigmentation1.57739038
39MP0004142_abnormal_muscle_tone1.55007100
40MP0004272_abnormal_basement_membrane1.53549114
41MP0005330_cardiomyopathy1.52842282
42MP0008007_abnormal_cellular_replicative1.45663317
43MP0001929_abnormal_gametogenesis1.44654075
44MP0003806_abnormal_nucleotide_metabolis1.44627712
45MP0002269_muscular_atrophy1.44378671
46MP0002095_abnormal_skin_pigmentation1.44203862
47MP0003077_abnormal_cell_cycle1.42298791
48MP0003950_abnormal_plasma_membrane1.39961113
49MP0000631_abnormal_neuroendocrine_gland1.38396832
50MP0000383_abnormal_hair_follicle1.37829055
51MP0000647_abnormal_sebaceous_gland1.34454553
52MP0010368_abnormal_lymphatic_system1.30672463
53MP0000372_irregular_coat_pigmentation1.30285763
54MP0003786_premature_aging1.26273089
55MP0005195_abnormal_posterior_eye1.24691856
56MP0003698_abnormal_male_reproductive1.24067588
57MP0001145_abnormal_male_reproductive1.22665586
58MP0005645_abnormal_hypothalamus_physiol1.21604240
59MP0008872_abnormal_physiological_respon1.21080453
60MP0003186_abnormal_redox_activity1.19594244
61MP0010386_abnormal_urinary_bladder1.18613596
62MP0000653_abnormal_sex_gland1.17548148
63MP0001661_extended_life_span1.15205604
64MP0005389_reproductive_system_phenotype1.14373429
65MP0002735_abnormal_chemical_nociception1.12723284
66MP0001986_abnormal_taste_sensitivity1.12209261
67MP0003890_abnormal_embryonic-extraembry1.11121575
68MP0006292_abnormal_olfactory_placode1.10110357
69MP0001293_anophthalmia1.09931264
70MP0010030_abnormal_orbit_morphology1.09275746
71MP0002139_abnormal_hepatobiliary_system1.07148365
72MP0004019_abnormal_vitamin_homeostasis1.07033878
73MP0008932_abnormal_embryonic_tissue1.06566314
74MP0002160_abnormal_reproductive_system1.02408697
75MP0003123_paternal_imprinting1.00825243
76MP0005551_abnormal_eye_electrophysiolog0.99539768
77MP0004215_abnormal_myocardial_fiber0.98435737
78MP0002102_abnormal_ear_morphology0.97993601
79MP0005410_abnormal_fertilization0.97298517
80MP0008995_early_reproductive_senescence0.96840698
81MP0001299_abnormal_eye_distance/0.95129013
82MP0003880_abnormal_central_pattern0.94817072
83MP0003937_abnormal_limbs/digits/tail_de0.94359856
84MP0002876_abnormal_thyroid_physiology0.93699741
85MP0001340_abnormal_eyelid_morphology0.89823397
86MP0001919_abnormal_reproductive_system0.88396014
87MP0001984_abnormal_olfaction0.88354131
88MP0010678_abnormal_skin_adnexa0.85370770
89MP0003705_abnormal_hypodermis_morpholog0.83339949
90MP0005084_abnormal_gallbladder_morpholo0.81411074
91MP0005171_absent_coat_pigmentation0.77615523
92MP0010307_abnormal_tumor_latency0.76881097
93MP0003936_abnormal_reproductive_system0.76475915
94MP0001873_stomach_inflammation0.74782189
95MP0008875_abnormal_xenobiotic_pharmacok0.74017689
96MP0000049_abnormal_middle_ear0.74000607
97MP0001119_abnormal_female_reproductive0.73495848
98MP0009046_muscle_twitch0.72694929
99MP0002282_abnormal_trachea_morphology0.70993109
100MP0004087_abnormal_muscle_fiber0.70089724
101MP0005332_abnormal_amino_acid0.70087807
102MP0003567_abnormal_fetal_cardiomyocyte0.69831621
103MP0009379_abnormal_foot_pigmentation0.69202985
104MP0005319_abnormal_enzyme/_coenzyme0.66584830
105MP0000358_abnormal_cell_content/0.66385539
106MP0009053_abnormal_anal_canal0.66361602
107MP0000537_abnormal_urethra_morphology0.66328143
108MP0002161_abnormal_fertility/fecundity0.65594808
109MP0008789_abnormal_olfactory_epithelium0.65397409
110MP0000759_abnormal_skeletal_muscle0.62726268
111MP0009697_abnormal_copulation0.62516146
112MP0005174_abnormal_tail_pigmentation0.62339323
113MP0003787_abnormal_imprinting0.62131285
114MP0002111_abnormal_tail_morphology0.61942081
115MP0005369_muscle_phenotype0.59807660
116MP0001905_abnormal_dopamine_level0.57199207
117MP0004859_abnormal_synaptic_plasticity0.55238396
118MP0003252_abnormal_bile_duct0.52749461
119MP0002734_abnormal_mechanical_nocicepti0.50379909
120MP0002249_abnormal_larynx_morphology0.50166114
121MP0001915_intracranial_hemorrhage0.46949307
122MP0003566_abnormal_cell_adhesion0.45468912
123MP0002653_abnormal_ependyma_morphology0.42367027
124MP0003942_abnormal_urinary_system0.41940088
125MP0000428_abnormal_craniofacial_morphol0.41232540
126MP0003635_abnormal_synaptic_transmissio0.40862997
127MP0005647_abnormal_sex_gland0.39722334
128MP0002177_abnormal_outer_ear0.38980704
129MP0003656_abnormal_erythrocyte_physiolo0.38234889
130MP0001727_abnormal_embryo_implantation0.38041087
131MP0005187_abnormal_penis_morphology0.37328807
132MP0004270_analgesia0.37011079
133MP0004185_abnormal_adipocyte_glucose0.36013445
134MP0009250_abnormal_appendicular_skeleto0.35390493
135MP0001968_abnormal_touch/_nociception0.35284678
136MP0008438_abnormal_cutaneous_collagen0.34650172
137MP0000751_myopathy0.33722292
138MP0009780_abnormal_chondrocyte_physiolo0.33544171
139MP0005360_urolithiasis0.32565838
140MP0001879_abnormal_lymphatic_vessel0.32423781
141MP0001324_abnormal_eye_pigmentation0.32329138
142MP0000747_muscle_weakness0.32149260
143MP0004197_abnormal_fetal_growth/weight/0.31716253
144MP0004811_abnormal_neuron_physiology0.31196778
145MP0005076_abnormal_cell_differentiation0.31136554
146MP0002089_abnormal_postnatal_growth/wei0.31025055
147MP0002736_abnormal_nociception_after0.30941054
148MP0003122_maternal_imprinting0.30346212
149MP0001943_abnormal_respiration0.30107265
150MP0004885_abnormal_endolymph0.29454414
151MP0005085_abnormal_gallbladder_physiolo0.29115680
152MP0005257_abnormal_intraocular_pressure0.28510885
153MP0005248_abnormal_Harderian_gland0.28057359
154MP0003115_abnormal_respiratory_system0.28025743
155MP0002063_abnormal_learning/memory/cond0.27534125
156MP0001958_emphysema0.26756634
157MP0003959_abnormal_lean_body0.25868636
158MP0002152_abnormal_brain_morphology0.24608949
159MP0009703_decreased_birth_body0.24271200
160MP0004484_altered_response_of0.24258712
161MP0002925_abnormal_cardiovascular_devel0.23787356
162MP0010234_abnormal_vibrissa_follicle0.22657564
163MP0002064_seizures0.22421327
164MP0003119_abnormal_digestive_system0.21753380
165MP0000955_abnormal_spinal_cord0.21464456
166MP0006072_abnormal_retinal_apoptosis0.21388410
167MP0005165_increased_susceptibility_to0.21276270
168MP0002733_abnormal_thermal_nociception0.20521600
169MP0003861_abnormal_nervous_system0.19168128
170MP0003137_abnormal_impulse_conducting0.19163519
171MP0008770_decreased_survivor_rate0.18822052
172MP0002081_perinatal_lethality0.18628430
173MP0000266_abnormal_heart_morphology0.18417973
174MP0001784_abnormal_fluid_regulation0.18375534
175MP0001614_abnormal_blood_vessel0.17865287
176MP0002882_abnormal_neuron_morphology0.17520433
177MP0001486_abnormal_startle_reflex0.16945774
178MP0005379_endocrine/exocrine_gland_phen0.16670088
179MP0003121_genomic_imprinting0.16226755
180MP0005595_abnormal_vascular_smooth0.15783289
181MP0002128_abnormal_blood_circulation0.15288846

Predicted human phenotypes

RankGene SetZ-score
1Congenital cataract (HP:0000519)7.88634141
2Corneal dystrophy (HP:0001131)7.26248474
3Amblyopia (HP:0000646)6.99101631
4Anterior segment dysgenesis (HP:0007700)5.85659317
5Hypoplasia of the pons (HP:0012110)4.89116762
6Abnormality of the pons (HP:0007361)4.79167587
7Acute necrotizing encephalopathy (HP:0006965)4.55058916
8Acute encephalopathy (HP:0006846)4.40656471
9Polar cataract (HP:0010696)4.35695232
10Abnormal mitochondria in muscle tissue (HP:0008316)4.03920689
11Clumsiness (HP:0002312)3.90622456
12Progressive macrocephaly (HP:0004481)3.76429549
13Pancreatic cysts (HP:0001737)3.71959786
14Mitochondrial inheritance (HP:0001427)3.63201174
15Microcornea (HP:0000482)3.60717451
16Increased CSF lactate (HP:0002490)3.40837796
17Abnormality of midbrain morphology (HP:0002418)3.38098221
18Molar tooth sign on MRI (HP:0002419)3.38098221
19Cerebral edema (HP:0002181)3.14105445
20Poor head control (HP:0002421)3.00764672
21Nuclear cataract (HP:0100018)27.5099799
22Zonular cataract (HP:0010920)24.4098284
23Hepatic necrosis (HP:0002605)2.95697390
24Iris coloboma (HP:0000612)2.90491773
25Hypothermia (HP:0002045)2.89004575
26True hermaphroditism (HP:0010459)2.85741356
27Pancreatic fibrosis (HP:0100732)2.84687806
28Methylmalonic acidemia (HP:0002912)2.83624300
29Eosinophilia (HP:0001880)2.82482579
30Chronic hepatic failure (HP:0100626)2.79355438
31Generalized aminoaciduria (HP:0002909)2.79353729
32Decreased activity of mitochondrial respiratory chain (HP:0008972)2.78167620
33Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.78167620
34Hepatocellular necrosis (HP:0001404)2.75836323
35Congenital stationary night blindness (HP:0007642)2.66387209
36Volvulus (HP:0002580)2.64133951
37Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.59706007
38Abnormal protein N-linked glycosylation (HP:0012347)2.59706007
39Abnormal protein glycosylation (HP:0012346)2.59706007
40Abnormal glycosylation (HP:0012345)2.59706007
41Abnormality of the labia minora (HP:0012880)2.59436242
42Type I transferrin isoform profile (HP:0003642)2.58038926
43Abnormality of the renal cortex (HP:0011035)2.56845522
44Opacification of the corneal stroma (HP:0007759)2.56789599
45Congenital, generalized hypertrichosis (HP:0004540)2.54556739
46Abnormal biliary tract physiology (HP:0012439)2.53005527
47Bile duct proliferation (HP:0001408)2.53005527
48Abnormal number of erythroid precursors (HP:0012131)2.50810788
49Polydipsia (HP:0001959)2.49524125
50Abnormal drinking behavior (HP:0030082)2.49524125
51Optic disc pallor (HP:0000543)2.47389993
52Methylmalonic aciduria (HP:0012120)2.46605884
53Abnormality of the anterior chamber (HP:0000593)2.45686081
54Increased serum lactate (HP:0002151)2.37767998
55Increased circulating renin level (HP:0000848)2.36091440
56Sclerocornea (HP:0000647)2.35772522
57Increased hepatocellular lipid droplets (HP:0006565)2.32827166
58Lactic acidosis (HP:0003128)2.30401566
59Aplasia/Hypoplasia of the tongue (HP:0010295)2.25473172
60Granulocytopenia (HP:0001913)2.24255083
61Leukodystrophy (HP:0002415)2.23245369
62Lipid accumulation in hepatocytes (HP:0006561)2.23142007
63Chromsome breakage (HP:0040012)2.17020400
64Tongue fasciculations (HP:0001308)2.15361569
65Chorioretinal atrophy (HP:0000533)2.14576833
66Polyuria (HP:0000103)2.13170730
67Renal cortical cysts (HP:0000803)2.11869524
68Congenital primary aphakia (HP:0007707)2.10583863
69Aplasia/Hypoplasia of the uvula (HP:0010293)2.08605555
70Anencephaly (HP:0002323)2.08535993
713-Methylglutaconic aciduria (HP:0003535)2.08053445
72Scapular winging (HP:0003691)2.07850117
73Chromosomal breakage induced by crosslinking agents (HP:0003221)2.06581330
74Lethargy (HP:0001254)2.03620862
75Meckel diverticulum (HP:0002245)2.03075689
76Abnormality of the ileum (HP:0001549)2.00593453
77Proximal amyotrophy (HP:0007126)2.00164489
78Large for gestational age (HP:0001520)1.98644136
79Abnormality of cells of the erythroid lineage (HP:0012130)1.98348645
80Abnormality of renal resorption (HP:0011038)1.95011786
81Respiratory failure (HP:0002878)1.94313421
82Hyperglycinemia (HP:0002154)1.93482120
83Abnormality of eosinophils (HP:0001879)1.92719156
84Severe muscular hypotonia (HP:0006829)1.91690675
85Medial flaring of the eyebrow (HP:0010747)1.90440228
86Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.90332726
87Abnormality of alanine metabolism (HP:0010916)1.90294606
88Hyperalaninemia (HP:0003348)1.90294606
89Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.90294606
90Ectopic kidney (HP:0000086)1.86578402
91Posterior subcapsular cataract (HP:0007787)1.86083915
92Abnormality of chromosome stability (HP:0003220)1.84681837
93Colon cancer (HP:0003003)1.84310536
94Nephronophthisis (HP:0000090)1.83888559
95Cystic liver disease (HP:0006706)1.83847677
96Preaxial hand polydactyly (HP:0001177)1.81073461
97Proximal tubulopathy (HP:0000114)1.80926993
98Renal Fanconi syndrome (HP:0001994)1.80392418
99Aplasia/Hypoplasia of the lens (HP:0008063)1.79755892
100Hypomagnesemia (HP:0002917)1.78909558
101Exercise intolerance (HP:0003546)1.77216993
102Carpal bone hypoplasia (HP:0001498)1.75675802
103Abnormality of serum amino acid levels (HP:0003112)1.75227234
104Glycosuria (HP:0003076)1.74149784
105Abnormality of urine glucose concentration (HP:0011016)1.74149784
106Gonadotropin excess (HP:0000837)1.73084817
107Pancytopenia (HP:0001876)1.72267538
108Abnormality of vitamin B metabolism (HP:0004340)1.68676272
109Squamous cell carcinoma (HP:0002860)1.68524974
110Neuroendocrine neoplasm (HP:0100634)1.68477470
111Furrowed tongue (HP:0000221)1.68326406
112Generalized myoclonic seizures (HP:0002123)1.67925892
113Disproportionate short-trunk short stature (HP:0003521)1.67209494
114Neonatal respiratory distress (HP:0002643)1.66961378
115Sloping forehead (HP:0000340)1.66901863
116Aplasia/Hypoplasia of the macula (HP:0008059)1.66664125
117Abnormality of macular pigmentation (HP:0008002)1.66482490
118Duplicated collecting system (HP:0000081)1.65042968
119Oculomotor apraxia (HP:0000657)1.63250877
120Muscular hypotonia of the trunk (HP:0008936)1.62423472
121Fetal akinesia sequence (HP:0001989)1.58623454
122Aplasia/Hypoplasia affecting the retina (HP:0008061)1.56144138
123Aplasia of the musculature (HP:0100854)1.52160573
124Long clavicles (HP:0000890)1.47585248
125Popliteal pterygium (HP:0009756)1.44954496
126Akinesia (HP:0002304)1.29368496
127Abnormality of placental membranes (HP:0011409)1.28048990
128Amniotic constriction ring (HP:0009775)1.28048990
129Abnormality of the shoulder girdle musculature (HP:0001435)1.27416261
130Leukocytosis (HP:0001974)1.26894780
131Rib fusion (HP:0000902)1.25080487
132Hypoplastic nipples (HP:0002557)1.20630627
133Difficulty walking (HP:0002355)1.19715642
134Fused cervical vertebrae (HP:0002949)1.05441483
135Symphalangism affecting the phalanges of the hand (HP:0009773)1.03797453
136Subcapsular cataract (HP:0000523)1.00813081
137Vertebral clefting (HP:0008428)0.95102329
138Papilledema (HP:0001085)0.94719264
139Abnormality of the labia majora (HP:0012881)0.89232485
140Aplasia/Hypoplasia involving the musculature (HP:0001460)0.86690074
141Chorioretinal coloboma (HP:0000567)0.81746834
142Severe visual impairment (HP:0001141)0.77908222
143Abnormal number of incisors (HP:0011064)0.74284689
144Camptodactyly of toe (HP:0001836)0.74203125
145Pterygium (HP:0001059)0.72621950
146Hypoplastic heart (HP:0001961)0.72420888
147Pointed chin (HP:0000307)0.72337358
148Ependymoma (HP:0002888)0.68414343
149Malignant hyperthermia (HP:0002047)0.68073862
150Exostoses (HP:0100777)0.67994874
151Thin ribs (HP:0000883)0.66648748
152Neoplasm of the heart (HP:0100544)0.64013926
153Split foot (HP:0001839)0.63976979
154Lymphangioma (HP:0100764)0.59327841
155Submucous cleft hard palate (HP:0000176)0.58373412
156Aplasia/Hypoplasia of the nipples (HP:0006709)0.54114858
157Diminished movement (HP:0002374)0.53614786
158Hypoplastic pelvis (HP:0008839)0.53055384
159Patellar aplasia (HP:0006443)0.51364932
160Degeneration of the lateral corticospinal tracts (HP:0002314)0.51224048
161Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)0.51224048
162Autosomal dominant inheritance (HP:0000006)0.50372829
163Overgrowth (HP:0001548)0.49798595
164Flexion contracture of toe (HP:0005830)0.48973201
165Joint contractures involving the joints of the feet (HP:0100492)0.48973201
166Dislocated radial head (HP:0003083)0.48651384
167Muscle fiber splitting (HP:0003555)0.47787167
168Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.47656557
169Abnormality of cochlea (HP:0000375)0.47323844
170Astrocytoma (HP:0009592)0.47050132
171Abnormality of the astrocytes (HP:0100707)0.47050132
172Cystic hygroma (HP:0000476)0.47005824
173Abnormality of the humeroradial joint (HP:0100744)0.45670737
174Oligodactyly (hands) (HP:0001180)0.44939678
175Aplasia/Hypoplasia of the patella (HP:0006498)0.44878148
176Enlarged kidneys (HP:0000105)0.44547154
177Broad nasal tip (HP:0000455)0.44503073
178Abnormality of the radial head (HP:0003995)0.44333818
179Hepatoblastoma (HP:0002884)0.42826022
180Neonatal hypoglycemia (HP:0001998)0.42178595
181Hyporeflexia of lower limbs (HP:0002600)0.40226415
182Annular pancreas (HP:0001734)0.40012288
183Abnormality of the corticospinal tract (HP:0002492)0.38895024
184Hyperthyroidism (HP:0000836)0.38805730
185Hemiplegia (HP:0002301)0.38794887
186Spastic gait (HP:0002064)0.38588197
187Porencephaly (HP:0002132)0.38021388
188Short thorax (HP:0010306)0.37890080
189Increased density of long bones (HP:0006392)0.37667922
190Abnormality of the labia (HP:0000058)0.37355015
191Vertebral fusion (HP:0002948)0.37353344
192Spastic tetraparesis (HP:0001285)0.37303733
193Visceral angiomatosis (HP:0100761)0.36863341
194Skin nodule (HP:0200036)0.35973115
195Hypoparathyroidism (HP:0000829)0.35927816
196Atelectasis (HP:0100750)0.35569988
197Hypopigmentation of the fundus (HP:0007894)0.35524370

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.12994736
2BLK5.39488334
3SGK14.36929174
4NEK13.78803108
5BUB13.12809740
6ZAK3.08855990
7EIF2AK33.05455973
8STK393.04334794
9MST42.85131595
10FRK2.84888743
11WNK42.84105472
12NTRK12.82691929
13FLT32.80051497
14WNK32.78525914
15TLK12.74136640
16MAP4K22.47070940
17STK162.33435632
18SIK12.22075945
19VRK22.16717229
20PKN22.14169143
21SRPK12.01239449
22NUAK11.94165458
23BRSK21.88565692
24TSSK61.78887075
25PRKCB1.76855488
26MAP3K101.75759891
27PLK21.75277415
28STK38L1.72821252
29VRK11.66316965
30MAPK101.66048831
31MET1.64563442
32PLK31.62057891
33BMPR1B1.60998567
34EPHB21.59934736
35TRIB31.59237794
36PNCK1.57020893
37NME11.55923609
38IGF1R1.55400461
39GRK11.54684381
40ADRBK21.53897110
41PLK41.50607681
42CDC71.48825240
43CAMKK21.47589332
44* PRKG11.45642127
45ACVR1B1.44998564
46INSR1.42268364
47EIF2AK11.40627987
48MAP3K121.40309791
49PDGFRA1.38244165
50TRIM281.37172320
51PTK2B1.28152970
52NEK91.26423521
53MKNK21.24658134
54PKN11.23720402
55TTK1.23234572
56CASK1.22975104
57CCNB11.22447878
58OXSR11.21983414
59LRRK21.21949865
60STK101.19379025
61BCKDK1.18793086
62PTK61.14708608
63MKNK11.10290010
64MAP3K71.07491014
65PRKCQ1.06756205
66WNK11.03623620
67RPS6KA31.02812614
68ERBB21.02760241
69CDK61.02099042
70ZAP701.00267111
71CLK10.99826425
72PLK10.99262652
73ICK0.92273452
74PIM20.92086588
75ATR0.91888579
76BRSK10.91291796
77CHEK20.90000808
78CSNK1G10.88533570
79RPS6KA20.87735285
80WEE10.87389657
81TAF10.86444433
82STK30.84385774
83DAPK20.83579616
84PAK40.79955087
85ARAF0.78195022
86MAP3K40.77164567
87PHKG10.77139995
88PHKG20.77139995
89CDK40.76559980
90SCYL20.76488147
91CSNK1G30.75930069
92DAPK30.75880375
93CSNK1G20.75738647
94BMX0.75457083
95ROCK20.75156060
96PRKCG0.75078840
97ALK0.73540709
98PRKCE0.72825160
99BMPR20.72082352
100PRKCI0.66841446
101SGK2230.65471443
102SGK4940.65471443
103BRAF0.64951154
104PAK30.64609209
105CAMK1D0.64503993
106AURKB0.63227552
107IRAK40.63135996
108ERBB30.63115264
109EPHA40.63090125
110CSF1R0.59828810
111DYRK30.59024926
112MAPK130.58848875
113PTK20.58694261
114CSNK2A20.57987854
115IRAK20.57467355
116CDK120.55891821
117ILK0.54913071
118RPS6KL10.54213119
119RPS6KC10.54213119
120AKT20.53035743
121PAK60.52625476
122ATM0.52170431
123RPS6KA50.50775192
124AURKA0.50641479
125MAPKAPK50.49645635
126INSRR0.49247473
127CSNK1E0.48626986
128TEC0.48459736
129MAP3K50.47073571
130TGFBR10.46425006
131UHMK10.46177960
132CSNK1A10.46160845
133CAMK1G0.45938639
134CSNK1A1L0.45565613
135PRKCH0.44675811
136PIM10.43656434
137CAMK2A0.43374938
138MAP3K130.43044004
139CAMKK10.42820934
140GRK50.42172202
141EPHA20.42097074
142NEK20.41732137
143STK110.41088085
144RPS6KA60.39798057
145CDK90.38586865
146CHEK10.38272285
147MARK10.38207975
148RPS6KA10.38021845
149CSNK2A10.37740850
150STK240.37283433
151CAMK2D0.36823024
152ROCK10.36380433
153MINK10.36177866
154MAP2K70.36150031
155CSNK1D0.35524370
156CDK50.35397962
157CDK80.35193075
158MAP3K80.34961325
159CDK70.34900057
160DAPK10.34672746
161LATS20.34483301
162MAPKAPK30.34358980
163BCR0.34156217
164FGFR10.32302469
165EIF2AK20.30288802
166HIPK20.29708940
167EGFR0.28937062
168NTRK30.26570976
169PDK10.25529460
170MAP2K40.25287223
171CDK10.24982096
172PDPK10.22650996
173FES0.21949085
174FYN0.21748290
175PRKCA0.19157072
176DYRK20.19028149
177CDK140.18137842
178TBK10.17458023
179AKT10.15595548
180LATS10.15591074
181PRKCZ0.15134516

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.41467468
2Homologous recombination_Homo sapiens_hsa034403.05621156
3Small cell lung cancer_Homo sapiens_hsa052223.05196747
4Parkinsons disease_Homo sapiens_hsa050122.97536996
5Basal cell carcinoma_Homo sapiens_hsa052172.90137621
6Proteasome_Homo sapiens_hsa030502.87716664
7RNA polymerase_Homo sapiens_hsa030202.84335521
8Protein export_Homo sapiens_hsa030602.67133961
9Hedgehog signaling pathway_Homo sapiens_hsa043402.61301322
10Mismatch repair_Homo sapiens_hsa034302.58942585
11Fanconi anemia pathway_Homo sapiens_hsa034602.51393031
12One carbon pool by folate_Homo sapiens_hsa006702.47676033
13Selenocompound metabolism_Homo sapiens_hsa004502.41697357
14Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.33237288
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.30503744
16Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.24430704
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.23281045
18Huntingtons disease_Homo sapiens_hsa050162.17820915
19Central carbon metabolism in cancer_Homo sapiens_hsa052302.04679798
20Basal transcription factors_Homo sapiens_hsa030222.02276975
21Melanogenesis_Homo sapiens_hsa049161.99198743
22DNA replication_Homo sapiens_hsa030301.96179007
23Alzheimers disease_Homo sapiens_hsa050101.93082324
24Non-homologous end-joining_Homo sapiens_hsa034501.92001155
25Ribosome_Homo sapiens_hsa030101.88433300
26Wnt signaling pathway_Homo sapiens_hsa043101.85940274
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.85846422
28RNA degradation_Homo sapiens_hsa030181.82423811
29Primary bile acid biosynthesis_Homo sapiens_hsa001201.81582080
30Nucleotide excision repair_Homo sapiens_hsa034201.79237256
31Sulfur relay system_Homo sapiens_hsa041221.77545153
32Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.76238418
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.73319934
34Adherens junction_Homo sapiens_hsa045201.69674323
35Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.68594400
36Vitamin B6 metabolism_Homo sapiens_hsa007501.65538400
37RNA transport_Homo sapiens_hsa030131.65512356
38Hippo signaling pathway_Homo sapiens_hsa043901.58387117
39Nitrogen metabolism_Homo sapiens_hsa009101.56328456
40ECM-receptor interaction_Homo sapiens_hsa045121.51001937
41Collecting duct acid secretion_Homo sapiens_hsa049661.49736149
42Insulin signaling pathway_Homo sapiens_hsa049101.47760877
43Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.47408590
44Phototransduction_Homo sapiens_hsa047441.44222001
45Folate biosynthesis_Homo sapiens_hsa007901.43512664
46Glucagon signaling pathway_Homo sapiens_hsa049221.40352699
47Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.40345289
48Sulfur metabolism_Homo sapiens_hsa009201.40187916
49GABAergic synapse_Homo sapiens_hsa047271.38102902
50Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.37399816
51Adipocytokine signaling pathway_Homo sapiens_hsa049201.35366929
52mTOR signaling pathway_Homo sapiens_hsa041501.33329963
53Olfactory transduction_Homo sapiens_hsa047401.31488348
54Fatty acid degradation_Homo sapiens_hsa000711.27722658
55Circadian entrainment_Homo sapiens_hsa047131.27472952
56Steroid biosynthesis_Homo sapiens_hsa001001.26185620
57Arginine and proline metabolism_Homo sapiens_hsa003301.25859863
58Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.25823635
59Amoebiasis_Homo sapiens_hsa051461.25124555
60Pyrimidine metabolism_Homo sapiens_hsa002401.21372451
61Proteoglycans in cancer_Homo sapiens_hsa052051.21013335
62Arginine biosynthesis_Homo sapiens_hsa002201.19414124
63Caffeine metabolism_Homo sapiens_hsa002321.18868687
64Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.17753947
65Purine metabolism_Homo sapiens_hsa002301.15633532
66Spliceosome_Homo sapiens_hsa030401.15586650
67Pathways in cancer_Homo sapiens_hsa052001.15001124
68Type II diabetes mellitus_Homo sapiens_hsa049301.14485997
69Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.14056306
70Cysteine and methionine metabolism_Homo sapiens_hsa002701.13871214
71Protein digestion and absorption_Homo sapiens_hsa049741.12723409
72Linoleic acid metabolism_Homo sapiens_hsa005911.12635782
73Propanoate metabolism_Homo sapiens_hsa006401.11708855
74Synaptic vesicle cycle_Homo sapiens_hsa047211.11587650
75Regulation of autophagy_Homo sapiens_hsa041401.10705014
76Base excision repair_Homo sapiens_hsa034101.10066636
77Biosynthesis of amino acids_Homo sapiens_hsa012301.09188480
78Systemic lupus erythematosus_Homo sapiens_hsa053221.09153131
79Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.05847788
80Glioma_Homo sapiens_hsa052141.05794379
81SNARE interactions in vesicular transport_Homo sapiens_hsa041301.05723905
82Bladder cancer_Homo sapiens_hsa052191.04791697
83alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.04411044
84Tight junction_Homo sapiens_hsa045301.03919992
85Butanoate metabolism_Homo sapiens_hsa006501.00941478
86Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.99944585
87Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.99151993
88Longevity regulating pathway - mammal_Homo sapiens_hsa042110.98402030
89Fatty acid elongation_Homo sapiens_hsa000620.98262214
90Cell cycle_Homo sapiens_hsa041100.96575633
91Axon guidance_Homo sapiens_hsa043600.96451239
92Focal adhesion_Homo sapiens_hsa045100.96215117
93Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.94630502
94p53 signaling pathway_Homo sapiens_hsa041150.94411459
95Glutathione metabolism_Homo sapiens_hsa004800.94277844
96Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.93556852
97Chronic myeloid leukemia_Homo sapiens_hsa052200.93231528
98Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.92972092
99Bile secretion_Homo sapiens_hsa049760.91523731
100Peroxisome_Homo sapiens_hsa041460.91306113
101Dopaminergic synapse_Homo sapiens_hsa047280.91024939
102beta-Alanine metabolism_Homo sapiens_hsa004100.90054875
103Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.89254632
104Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.88466700
105Tryptophan metabolism_Homo sapiens_hsa003800.87664904
106Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86916257
107Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.86745689
108Cardiac muscle contraction_Homo sapiens_hsa042600.85401232
109Prion diseases_Homo sapiens_hsa050200.85099126
110MicroRNAs in cancer_Homo sapiens_hsa052060.83967706
111Insulin resistance_Homo sapiens_hsa049310.83176521
112Arachidonic acid metabolism_Homo sapiens_hsa005900.83175068
113Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.83092204
114Metabolic pathways_Homo sapiens_hsa011000.82712797
115Phospholipase D signaling pathway_Homo sapiens_hsa040720.81184470
116AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.80423353
117Lysine degradation_Homo sapiens_hsa003100.79686217
118Glutamatergic synapse_Homo sapiens_hsa047240.78959555
119Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.78661746
120Long-term potentiation_Homo sapiens_hsa047200.78317953
121Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.78263593
122Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.78154097
123Thyroid hormone signaling pathway_Homo sapiens_hsa049190.78153464
124Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.75816795
125AMPK signaling pathway_Homo sapiens_hsa041520.75372394
126Ether lipid metabolism_Homo sapiens_hsa005650.74437929
127Toxoplasmosis_Homo sapiens_hsa051450.73288835
128Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73128003
129Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.71199271
130Gap junction_Homo sapiens_hsa045400.70021619
131ErbB signaling pathway_Homo sapiens_hsa040120.70004197
132Starch and sucrose metabolism_Homo sapiens_hsa005000.67864058
133mRNA surveillance pathway_Homo sapiens_hsa030150.67039057
134Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.66699339
135Cholinergic synapse_Homo sapiens_hsa047250.66182761
136Insulin secretion_Homo sapiens_hsa049110.65941329
137Retinol metabolism_Homo sapiens_hsa008300.65828643
138Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.65608841
139Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.65205218
140Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.64603109
141Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.64012041
142Thyroid cancer_Homo sapiens_hsa052160.63563041
143Histidine metabolism_Homo sapiens_hsa003400.61880625
144Alcoholism_Homo sapiens_hsa050340.61479845
145Morphine addiction_Homo sapiens_hsa050320.61217318
146Amphetamine addiction_Homo sapiens_hsa050310.61094491
147Maturity onset diabetes of the young_Homo sapiens_hsa049500.60665376
148Chemical carcinogenesis_Homo sapiens_hsa052040.60592795
149PI3K-Akt signaling pathway_Homo sapiens_hsa041510.60468565
150PPAR signaling pathway_Homo sapiens_hsa033200.60438034
151Gastric acid secretion_Homo sapiens_hsa049710.58808730
152Fatty acid metabolism_Homo sapiens_hsa012120.58318456
153Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.58128266
154Non-small cell lung cancer_Homo sapiens_hsa052230.57768832
155Estrogen signaling pathway_Homo sapiens_hsa049150.54618604
156Endometrial cancer_Homo sapiens_hsa052130.53245030
157Dorso-ventral axis formation_Homo sapiens_hsa043200.52213942
158Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.51991206
159Neurotrophin signaling pathway_Homo sapiens_hsa047220.50529097
160Notch signaling pathway_Homo sapiens_hsa043300.50325435
161Phenylalanine metabolism_Homo sapiens_hsa003600.49305942
162Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.48862271
163Steroid hormone biosynthesis_Homo sapiens_hsa001400.48169412
164Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.48054104
165Nicotine addiction_Homo sapiens_hsa050330.47993252
166Pentose and glucuronate interconversions_Homo sapiens_hsa000400.47262320
167Oxytocin signaling pathway_Homo sapiens_hsa049210.47187005
168Cocaine addiction_Homo sapiens_hsa050300.46559523
169Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.46423440
170Drug metabolism - other enzymes_Homo sapiens_hsa009830.43604212
171Oocyte meiosis_Homo sapiens_hsa041140.42158788
172Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40229248
173Tyrosine metabolism_Homo sapiens_hsa003500.40190177
174N-Glycan biosynthesis_Homo sapiens_hsa005100.39848764
175Taste transduction_Homo sapiens_hsa047420.35664517
176Mineral absorption_Homo sapiens_hsa049780.34591005
177Sphingolipid metabolism_Homo sapiens_hsa006000.31476936
178Vitamin digestion and absorption_Homo sapiens_hsa049770.26145703
179Pyruvate metabolism_Homo sapiens_hsa006200.21018685
180TGF-beta signaling pathway_Homo sapiens_hsa043500.19693418
181Antigen processing and presentation_Homo sapiens_hsa046120.17629241
182Fat digestion and absorption_Homo sapiens_hsa049750.15978821

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