MCOLN3

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 one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by symbiont of host defense response (GO:0052031)6.50656923
2modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.50656923
3modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.50656923
4positive regulation by organism of defense response of other organism involved in symbiotic interact6.50656923
5modulation by symbiont of host immune response (GO:0052553)6.50656923
6positive regulation by symbiont of host defense response (GO:0052509)6.50656923
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.41545642
8regulation of chromatin binding (GO:0035561)5.39975538
9regulation of interferon-beta biosynthetic process (GO:0045357)5.29567164
10positive regulation of gamma-delta T cell activation (GO:0046645)5.18724649
11cellular ketone body metabolic process (GO:0046950)5.05465451
12ketone body metabolic process (GO:1902224)4.90819077
13natural killer cell mediated immunity (GO:0002228)4.82822700
14natural killer cell mediated cytotoxicity (GO:0042267)4.82822700
15platelet dense granule organization (GO:0060155)4.11915065
16regulation of hexokinase activity (GO:1903299)4.07881930
17regulation of glucokinase activity (GO:0033131)4.07881930
18antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.00832600
19antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.00832600
20positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.97165655
21macrophage activation involved in immune response (GO:0002281)3.96305121
22respiratory chain complex IV assembly (GO:0008535)3.93683405
23positive regulation of interferon-alpha production (GO:0032727)3.93266305
24negative regulation of cell killing (GO:0031342)3.91783775
25negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.91783775
26regulation of gamma-delta T cell activation (GO:0046643)3.89638781
27regulation of gamma-delta T cell differentiation (GO:0045586)3.75872575
28negative regulation of cytosolic calcium ion concentration (GO:0051481)3.75210274
29regulation of interferon-alpha production (GO:0032647)3.73425107
30response to host immune response (GO:0052572)3.72186479
31response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.72186479
32regulation of B cell receptor signaling pathway (GO:0050855)3.71244598
33melanin biosynthetic process (GO:0042438)3.68623971
34regulation of B cell differentiation (GO:0045577)3.67504621
35respiratory burst (GO:0045730)3.64686274
36response to pheromone (GO:0019236)3.63832469
37COPI coating of Golgi vesicle (GO:0048205)3.63103090
38Golgi transport vesicle coating (GO:0048200)3.63103090
39neutrophil activation involved in immune response (GO:0002283)3.61124526
40signal peptide processing (GO:0006465)3.60517588
41sensory perception of smell (GO:0007608)3.60105928
42antigen processing and presentation of endogenous antigen (GO:0019883)3.59467687
43water-soluble vitamin biosynthetic process (GO:0042364)3.56881035
44regulation of podosome assembly (GO:0071801)3.49490002
45inositol phosphate catabolic process (GO:0071545)3.45998454
46cytochrome complex assembly (GO:0017004)3.45514083
47melanin metabolic process (GO:0006582)3.44048430
48positive regulation of B cell differentiation (GO:0045579)3.38449731
49response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.29265679
50response to host (GO:0075136)3.29265679
51response to host defenses (GO:0052200)3.29265679
52protein K11-linked deubiquitination (GO:0035871)3.29005188
53immunoglobulin mediated immune response (GO:0016064)3.28445615
54atrial cardiac muscle cell action potential (GO:0086014)3.24411533
55detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.22438045
56phosphorylated carbohydrate dephosphorylation (GO:0046838)3.21544036
57inositol phosphate dephosphorylation (GO:0046855)3.21544036
58leukocyte mediated cytotoxicity (GO:0001909)3.20818598
59regulation of interleukin-12 biosynthetic process (GO:0045075)3.20683728
60positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.19666274
61microglial cell activation (GO:0001774)3.13955003
62proline transport (GO:0015824)3.11328723
63apoptotic cell clearance (GO:0043277)3.11092036
64glycerophospholipid catabolic process (GO:0046475)3.09890545
65polyol catabolic process (GO:0046174)3.09843825
66response to peptidoglycan (GO:0032494)3.09603566
67I-kappaB phosphorylation (GO:0007252)3.07734908
68keratinocyte development (GO:0003334)3.07258816
69detection of light stimulus involved in visual perception (GO:0050908)3.05954957
70detection of light stimulus involved in sensory perception (GO:0050962)3.05954957
71indolalkylamine metabolic process (GO:0006586)3.04860574
72negative regulation of interleukin-17 production (GO:0032700)3.04691826
73secondary metabolite biosynthetic process (GO:0044550)3.04307814
74indole-containing compound catabolic process (GO:0042436)3.02882691
75indolalkylamine catabolic process (GO:0046218)3.02882691
76tryptophan catabolic process (GO:0006569)3.02882691
77protein prenylation (GO:0018342)3.02192902
78prenylation (GO:0097354)3.02192902
79response to muramyl dipeptide (GO:0032495)3.02086968
80interferon-gamma production (GO:0032609)2.99229386
81neutrophil activation (GO:0042119)2.99188015
82antigen processing and presentation via MHC class Ib (GO:0002475)2.97215109
83synapsis (GO:0007129)2.97183138
84behavioral response to nicotine (GO:0035095)2.92340847
85cornea development in camera-type eye (GO:0061303)2.91947723
86regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.91541081
87leukocyte aggregation (GO:0070486)2.89598053
88positive regulation of interferon-beta production (GO:0032728)2.89413853
89positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.89219695
90granulocyte activation (GO:0036230)2.89118980
91positive regulation of antigen processing and presentation (GO:0002579)2.88825204
92response to lipoprotein particle (GO:0055094)2.86752741
93amyloid precursor protein catabolic process (GO:0042987)2.85119857
94mannosylation (GO:0097502)2.84382940
95lactate metabolic process (GO:0006089)2.84024408
96piRNA metabolic process (GO:0034587)2.84008917
97reflex (GO:0060004)2.83219603
98photoreceptor cell maintenance (GO:0045494)2.83142562
99endocrine pancreas development (GO:0031018)2.80820927
100preassembly of GPI anchor in ER membrane (GO:0016254)2.80619589
101B cell receptor signaling pathway (GO:0050853)2.79863720
102phagosome maturation (GO:0090382)2.78828391
103kynurenine metabolic process (GO:0070189)2.78361297
104regulation of acyl-CoA biosynthetic process (GO:0050812)2.77453553
105positive thymic T cell selection (GO:0045059)2.74745726
106positive regulation of T cell apoptotic process (GO:0070234)2.73446175
107negative regulation of erythrocyte differentiation (GO:0045647)2.70766602
108B cell homeostasis (GO:0001782)2.70447295
109regulation of action potential (GO:0098900)2.69790514
110barbed-end actin filament capping (GO:0051016)2.69757541
111mannose metabolic process (GO:0006013)2.68709559
112positive regulation of leukocyte degranulation (GO:0043302)2.68068167
113DNA deamination (GO:0045006)2.67457610
114macrophage activation (GO:0042116)2.67407962
115insulin secretion (GO:0030073)2.67333737
116lymphocyte mediated immunity (GO:0002449)2.66894870
117T cell selection (GO:0045058)2.66879233
118prostate gland growth (GO:0060736)2.66685849
119membrane protein intracellular domain proteolysis (GO:0031293)2.66603937
120protein complex biogenesis (GO:0070271)2.66366835
121auditory receptor cell stereocilium organization (GO:0060088)2.65968769
122thymic T cell selection (GO:0045061)2.65723964
123intestinal epithelial cell development (GO:0060576)2.64602264
124recombinational repair (GO:0000725)2.64560424
125double-strand break repair via homologous recombination (GO:0000724)2.64557630
126positive regulation of meiosis (GO:0045836)2.64414752
127sensory perception of chemical stimulus (GO:0007606)2.64115103
128myeloid cell activation involved in immune response (GO:0002275)2.63627148
129positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.63249536
130axoneme assembly (GO:0035082)2.62445897
131positive T cell selection (GO:0043368)2.62348944
132B cell mediated immunity (GO:0019724)2.62271087
133toxin transport (GO:1901998)2.62030746
134production of molecular mediator involved in inflammatory response (GO:0002532)2.61958068
135fucose catabolic process (GO:0019317)2.61765097
136L-fucose metabolic process (GO:0042354)2.61765097
137L-fucose catabolic process (GO:0042355)2.61765097
138regulation of type B pancreatic cell apoptotic process (GO:2000674)2.61272592
139tryptophan metabolic process (GO:0006568)2.59731663
140aromatic amino acid family catabolic process (GO:0009074)2.59147387
141pinocytosis (GO:0006907)2.57332517
142negative regulation of execution phase of apoptosis (GO:1900118)2.56301805
143replication fork processing (GO:0031297)2.56194453
144negative regulation of B cell proliferation (GO:0030889)2.56107267
145aromatic amino acid family metabolic process (GO:0009072)2.55827160
146regulation of nuclear cell cycle DNA replication (GO:0033262)2.55202128
147regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.54948690
148bone resorption (GO:0045453)2.53932675
149leukocyte cell-cell adhesion (GO:0007159)2.53447650
150cilium morphogenesis (GO:0060271)2.52177883
151inositol phosphate-mediated signaling (GO:0048016)2.51240690
152C-terminal protein lipidation (GO:0006501)2.50498138
153glycoside metabolic process (GO:0016137)2.50262573
154JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.49377904
155rRNA catabolic process (GO:0016075)2.49231608
156glycosphingolipid catabolic process (GO:0046479)2.48944324
157positive regulation of lymphocyte apoptotic process (GO:0070230)2.48384407
158hepatocyte apoptotic process (GO:0097284)2.48269643
159positive regulation of meiotic cell cycle (GO:0051446)2.47752072
160cilium organization (GO:0044782)2.47589161
161C-terminal protein amino acid modification (GO:0018410)2.47395858
162nephron tubule morphogenesis (GO:0072078)2.47269340
163nephron epithelium morphogenesis (GO:0072088)2.47269340
164myeloid cell homeostasis (GO:0002262)2.46319448
165kidney morphogenesis (GO:0060993)2.46314691
166intraciliary transport (GO:0042073)2.46061441
167regulation of sulfur metabolic process (GO:0042762)2.45685271
168branched-chain amino acid catabolic process (GO:0009083)2.45532394
169negative T cell selection (GO:0043383)2.45476269
170histone H2A ubiquitination (GO:0033522)2.45442051
171regulation of interferon-gamma biosynthetic process (GO:0045072)2.45112143
172negative thymic T cell selection (GO:0045060)2.45015397
173Golgi to endosome transport (GO:0006895)2.45002986
174alanine transport (GO:0032328)2.44393270
175protein localization to endosome (GO:0036010)2.44107720
176positive regulation of protein autophosphorylation (GO:0031954)2.43557330
177keratan sulfate catabolic process (GO:0042340)2.42997444
178positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.42961488
179cilium assembly (GO:0042384)2.42810682
180mitochondrial respiratory chain complex assembly (GO:0033108)2.42807451
181epithelial cell differentiation involved in prostate gland development (GO:0060742)2.42292405
182interferon-gamma-mediated signaling pathway (GO:0060333)2.42172227
183negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.41551483
184serotonin metabolic process (GO:0042428)2.41113194
185indole-containing compound metabolic process (GO:0042430)2.38920930
186protein polyglutamylation (GO:0018095)2.38777163
187regulation of meiosis I (GO:0060631)2.38281242
188anterograde synaptic vesicle transport (GO:0048490)2.37567866
189neural tube formation (GO:0001841)2.35820544
190magnesium ion transport (GO:0015693)2.35606260
191protein K6-linked ubiquitination (GO:0085020)2.35017355
192reciprocal meiotic recombination (GO:0007131)2.34693076
193reciprocal DNA recombination (GO:0035825)2.34693076
194spinal cord motor neuron differentiation (GO:0021522)2.34645186
195epithelial cilium movement (GO:0003351)2.34444392
196negative regulation of DNA-dependent DNA replication (GO:2000104)2.34306343
197inner ear receptor stereocilium organization (GO:0060122)2.34306130
198benzene-containing compound metabolic process (GO:0042537)2.33504989
199phasic smooth muscle contraction (GO:0014821)2.32818582
200sphingoid metabolic process (GO:0046519)2.32557060

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.96366048
2IRF8_21731497_ChIP-ChIP_J774_Mouse4.30599583
3EGR1_19374776_ChIP-ChIP_THP-1_Human4.05347927
4IRF8_27001747_Chip-Seq_BMDM_Mouse3.68704133
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.57116327
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.52012143
7NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.28075400
8GBX2_23144817_ChIP-Seq_PC3_Human3.13148016
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.12838386
10BP1_19119308_ChIP-ChIP_Hs578T_Human3.06369372
11FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.02240788
12MYC_22102868_ChIP-Seq_BL_Human2.94692999
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.94227535
14POU3F2_20337985_ChIP-ChIP_501MEL_Human2.83901758
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.80824703
16Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.77262876
17ZNF274_21170338_ChIP-Seq_K562_Hela2.75472118
18NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.73750539
19IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.67477000
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.50911129
21CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.46089936
22VDR_22108803_ChIP-Seq_LS180_Human2.41574806
23FUS_26573619_Chip-Seq_HEK293_Human2.39885738
24STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.39261457
25NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.35707358
26BRD4_27068464_Chip-Seq_AML-cells_Mouse2.34542315
27FLI1_27457419_Chip-Seq_LIVER_Mouse2.31240687
28SALL1_21062744_ChIP-ChIP_HESCs_Human2.30574232
29VDR_21846776_ChIP-Seq_THP-1_Human2.26256523
30SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.26153544
31VDR_24763502_ChIP-Seq_THP-1_Human2.25743227
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.22692102
33MAF_26560356_Chip-Seq_TH1_Human2.17488073
34P300_19829295_ChIP-Seq_ESCs_Human2.16995274
35SPI1_23547873_ChIP-Seq_NB4_Human2.14078381
36EWS_26573619_Chip-Seq_HEK293_Human2.13292219
37MYB_26560356_Chip-Seq_TH2_Human2.13217909
38AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.09419982
39E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.02883934
40CTBP2_25329375_ChIP-Seq_LNCAP_Human2.02768177
41IGF1R_20145208_ChIP-Seq_DFB_Human2.02664264
42IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.97216125
43TFEB_21752829_ChIP-Seq_HELA_Human1.96804605
44STAT4_19710469_ChIP-ChIP_TH1__Mouse1.96763186
45* TAF15_26573619_Chip-Seq_HEK293_Human1.94462429
46SPI1_23127762_ChIP-Seq_K562_Human1.92358541
47RUNX_20019798_ChIP-Seq_JUKART_Human1.92159193
48TCF7_22412390_ChIP-Seq_EML_Mouse1.89672658
49FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.89491611
50ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.88882991
51PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.87955204
52PCGF2_27294783_Chip-Seq_ESCs_Mouse1.81313087
53ER_23166858_ChIP-Seq_MCF-7_Human1.80304332
54* UTX_26944678_Chip-Seq_JUKART_Human1.79986563
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.78932095
56* GATA3_27048872_Chip-Seq_THYMUS_Human1.78301731
57RUNX1_22412390_ChIP-Seq_EML_Mouse1.77801528
58SMAD4_21799915_ChIP-Seq_A2780_Human1.74352530
59SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.68878964
60CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67448152
61MYB_26560356_Chip-Seq_TH1_Human1.66621308
62TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.65792413
63CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.65350713
64PU_27001747_Chip-Seq_BMDM_Mouse1.65191903
65VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.63126516
66EZH2_27294783_Chip-Seq_NPCs_Mouse1.62880068
67MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.62255867
68CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.61984625
69SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.61373185
70STAT3_23295773_ChIP-Seq_U87_Human1.60981859
71MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.60978390
72SUZ12_27294783_Chip-Seq_NPCs_Mouse1.60762887
73BCAT_22108803_ChIP-Seq_LS180_Human1.60558426
74HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.59942447
75ESR1_21235772_ChIP-Seq_MCF-7_Human1.58490941
76SCL_19346495_ChIP-Seq_HPC-7_Human1.58445760
77MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.57431820
78RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.57384734
79SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.56622129
80RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.55260081
81CBP_20019798_ChIP-Seq_JUKART_Human1.54862272
82IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.54862272
83NFE2_27457419_Chip-Seq_LIVER_Mouse1.54270406
84* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.53707990
85UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.51963930
86AR_25329375_ChIP-Seq_VCAP_Human1.51636536
87FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.50987777
88KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.50024610
89RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.48719786
90KDM2B_26808549_Chip-Seq_SUP-B15_Human1.48683547
91GATA1_22025678_ChIP-Seq_K562_Human1.48291033
92* TCF4_23295773_ChIP-Seq_U87_Human1.48253898
93NANOG_18555785_Chip-Seq_ESCs_Mouse1.45783601
94SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.45162676
95KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.43944165
96THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43731048
97VDR_24787735_ChIP-Seq_THP-1_Human1.43716773
98KDM2B_26808549_Chip-Seq_DND41_Human1.43161687
99TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.42971045
100PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.42432387
101SMAD3_21741376_ChIP-Seq_EPCs_Human1.40379730
102EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.39799757
103EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.36470390
104KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.36378485
105E2F7_22180533_ChIP-Seq_HELA_Human1.36272082
106EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.36190569
107CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.35379435
108TCF4_22108803_ChIP-Seq_LS180_Human1.34276423
109* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.33968057
110CRX_20693478_ChIP-Seq_RETINA_Mouse1.32736808
111E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.32590836
112GABP_17652178_ChIP-ChIP_JURKAT_Human1.32151397
113P53_22387025_ChIP-Seq_ESCs_Mouse1.31608646
114* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.31160364
115SOX2_19829295_ChIP-Seq_ESCs_Human1.31107672
116NANOG_19829295_ChIP-Seq_ESCs_Human1.31107672
117ELK1_19687146_ChIP-ChIP_HELA_Human1.29385593
118TP53_22573176_ChIP-Seq_HFKS_Human1.29137397
119KLF5_20875108_ChIP-Seq_MESCs_Mouse1.29137076
120* CDX2_22108803_ChIP-Seq_LS180_Human1.29043674
121LXR_22292898_ChIP-Seq_THP-1_Human1.28141237
122CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27834570
123CLOCK_20551151_ChIP-Seq_293T_Human1.27091316
124NR3C1_21868756_ChIP-Seq_MCF10A_Human1.26851771
125TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.26412242
126PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.25257586
127BMI1_23680149_ChIP-Seq_NPCS_Mouse1.25061939
128MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.24733779
129E2F1_18555785_Chip-Seq_ESCs_Mouse1.24536322
130MAF_26560356_Chip-Seq_TH2_Human1.24232535
131STAT3_18555785_Chip-Seq_ESCs_Mouse1.23708787
132* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22808086
133PCGF2_27294783_Chip-Seq_NPCs_Mouse1.22620931
134FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22422095
135ELK3_25401928_ChIP-Seq_HUVEC_Human1.21622393
136FLI1_21867929_ChIP-Seq_TH2_Mouse1.21232193
137* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.20732604
138CMYC_18555785_Chip-Seq_ESCs_Mouse1.20259503
139GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.20085405
140FOXM1_26456572_ChIP-Seq_MCF-7_Human1.19969476
141SUZ12_18555785_Chip-Seq_ESCs_Mouse1.19824170
142SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.18059677
143EGR1_23403033_ChIP-Seq_LIVER_Mouse1.17997993
144* FOXA1_25329375_ChIP-Seq_VCAP_Human1.17521730
145* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.17521730
146RUNX2_22187159_ChIP-Seq_PCA_Human1.17091307
147SOX2_27498859_Chip-Seq_STOMACH_Mouse1.16665059
148SOX2_18555785_Chip-Seq_ESCs_Mouse1.16574951
149P300_18555785_Chip-Seq_ESCs_Mouse1.14875825
150OCT4_21477851_ChIP-Seq_ESCs_Mouse1.14565766
151FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.13809571
152TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.13659365
153POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13554311
154TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13554311
155SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.13483072
156SMAD4_21741376_ChIP-Seq_EPCs_Human1.12989391
157FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.11393651
158SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.10727069
159HIF1A_21447827_ChIP-Seq_MCF-7_Human1.10238191
160* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.09792692
161ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09381404
162STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.09268709
163MYC_18940864_ChIP-ChIP_HL60_Human1.08302173
164SMAD_19615063_ChIP-ChIP_OVARY_Human1.07758369
165OCT4_18555785_Chip-Seq_ESCs_Mouse1.07513205
166CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.07076297
167HTT_18923047_ChIP-ChIP_STHdh_Human1.06486464
168GATA2_22383799_ChIP-Seq_G1ME_Mouse1.06477603
169EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.06016661
170NMYC_18555785_Chip-Seq_ESCs_Mouse1.05970719
171* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.05598588
172EST1_17652178_ChIP-ChIP_JURKAT_Human1.04358624
173NOTCH1_21737748_ChIP-Seq_TLL_Human1.04005826
174PRDM14_20953172_ChIP-Seq_ESCs_Human1.03683164
175TAL1_26923725_Chip-Seq_HPCs_Mouse1.03649567
176PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03557087
177RACK7_27058665_Chip-Seq_MCF-7_Human1.03484092
178NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.02716621
179ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.02507013
180GATA6_25053715_ChIP-Seq_YYC3_Human1.02325441
181GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.99075247
182CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.98448150
183TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.97955254
184DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.96498160
185GATA1_22383799_ChIP-Seq_G1ME_Mouse0.96042079
186* GATA3_26560356_Chip-Seq_TH2_Human0.95357305
187ERG_20887958_ChIP-Seq_HPC-7_Mouse0.94933752
188TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.94620225
189TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.92911938
190CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.92166549
191ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.91880535
192FOXO3_23340844_ChIP-Seq_DLD1_Human0.86725766
193PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83683280
194GATA1_19941826_ChIP-Seq_K562_Human0.83344565
195CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.83084848
196FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.82426337
197BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.82032686

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005058_abnormal_lysosome_morphology4.50481000
2MP0002837_dystrophic_cardiac_calcinosis4.18663834
3MP0000569_abnormal_digit_pigmentation3.48697274
4MP0003136_yellow_coat_color3.44352219
5MP0005257_abnormal_intraocular_pressure3.37102078
6MP0005379_endocrine/exocrine_gland_phen3.26872685
7MP0002163_abnormal_gland_morphology3.20547818
8MP0003172_abnormal_lysosome_physiology3.19379268
9MP0003195_calcinosis3.16026933
10MP0001835_abnormal_antigen_presentation2.82723994
11MP0005646_abnormal_pituitary_gland2.62824010
12MP0003300_gastrointestinal_ulcer2.58847376
13* MP0000372_irregular_coat_pigmentation2.48540138
14MP0003183_abnormal_peptide_metabolism2.46563556
15MP0008789_abnormal_olfactory_epithelium2.34271940
16MP0001984_abnormal_olfaction2.33556952
17MP0002877_abnormal_melanocyte_morpholog2.27059490
18MP0005551_abnormal_eye_electrophysiolog2.20359122
19MP0003303_peritoneal_inflammation2.20066256
20MP0002254_reproductive_system_inflammat2.19423876
21MP0006072_abnormal_retinal_apoptosis2.17052776
22MP0008877_abnormal_DNA_methylation2.15906659
23MP0003436_decreased_susceptibility_to2.15555552
24MP0001790_abnormal_immune_system2.14349840
25MP0005387_immune_system_phenotype2.14349840
26MP0002452_abnormal_antigen_presenting2.13169619
27MP0002419_abnormal_innate_immunity2.11029877
28MP0005000_abnormal_immune_tolerance2.08273702
29* MP0000371_diluted_coat_color2.07952845
30MP0006082_CNS_inflammation2.02347366
31MP0009780_abnormal_chondrocyte_physiolo1.98360408
32MP0005394_taste/olfaction_phenotype1.87622887
33MP0005499_abnormal_olfactory_system1.87622887
34MP0001800_abnormal_humoral_immune1.87566537
35MP0009046_muscle_twitch1.83245868
36MP0002138_abnormal_hepatobiliary_system1.83176236
37MP0005253_abnormal_eye_physiology1.81643660
38MP0002090_abnormal_vision1.80705826
39MP0002420_abnormal_adaptive_immunity1.80673134
40MP0001819_abnormal_immune_cell1.80109993
41MP0000685_abnormal_immune_system1.79791198
42MP0003646_muscle_fatigue1.78478330
43MP0005310_abnormal_salivary_gland1.76958212
44MP0000427_abnormal_hair_cycle1.75993257
45MP0005408_hypopigmentation1.75692370
46MP0002909_abnormal_adrenal_gland1.75594282
47MP0000015_abnormal_ear_pigmentation1.75282886
48* MP0002938_white_spotting1.73723801
49MP0002723_abnormal_immune_serum1.70776268
50MP0002405_respiratory_system_inflammati1.70221217
51MP0005025_abnormal_response_to1.66051949
52MP0010678_abnormal_skin_adnexa1.65619722
53MP0003763_abnormal_thymus_physiology1.64728975
54MP0005671_abnormal_response_to1.64426880
55MP0002102_abnormal_ear_morphology1.63473335
56MP0009840_abnormal_foam_cell1.62737557
57MP0005171_absent_coat_pigmentation1.57670030
58MP0000383_abnormal_hair_follicle1.57004614
59MP0005377_hearing/vestibular/ear_phenot1.56373839
60MP0003878_abnormal_ear_physiology1.56373839
61MP0003787_abnormal_imprinting1.55339160
62* MP0005174_abnormal_tail_pigmentation1.53706013
63MP0009333_abnormal_splenocyte_physiolog1.47887541
64MP0002876_abnormal_thyroid_physiology1.45895996
65MP0002148_abnormal_hypersensitivity_rea1.44731255
66MP0005464_abnormal_platelet_physiology1.41722004
67MP0000631_abnormal_neuroendocrine_gland1.39842986
68MP0000604_amyloidosis1.39401140
69MP0002933_joint_inflammation1.38554704
70MP0002998_abnormal_bone_remodeling1.37122755
71MP0000716_abnormal_immune_system1.36662752
72MP0003191_abnormal_cellular_cholesterol1.36608006
73MP0001501_abnormal_sleep_pattern1.36593036
74MP0001944_abnormal_pancreas_morphology1.35520009
75MP0003705_abnormal_hypodermis_morpholog1.34686876
76MP0001845_abnormal_inflammatory_respons1.34504615
77MP0002398_abnormal_bone_marrow1.32406247
78MP0002166_altered_tumor_susceptibility1.30361510
79MP0004885_abnormal_endolymph1.29839784
80MP0004947_skin_inflammation1.27156709
81MP0004215_abnormal_myocardial_fiber1.26893473
82MP0000689_abnormal_spleen_morphology1.26788650
83MP0000516_abnormal_urinary_system1.25591252
84MP0005367_renal/urinary_system_phenotyp1.25591252
85MP0001533_abnormal_skeleton_physiology1.25082031
86MP0009785_altered_susceptibility_to1.24769248
87MP0004019_abnormal_vitamin_homeostasis1.24763647
88MP0008057_abnormal_DNA_replication1.22650388
89MP0001873_stomach_inflammation1.19783640
90MP0002139_abnormal_hepatobiliary_system1.17799948
91MP0005332_abnormal_amino_acid1.16529805
92MP0004043_abnormal_pH_regulation1.15685935
93MP0003283_abnormal_digestive_organ1.14832256
94MP0004510_myositis1.14767078
95MP0002429_abnormal_blood_cell1.14359174
96MP0002722_abnormal_immune_system1.13827718
97MP0010307_abnormal_tumor_latency1.12956071
98MP0008872_abnormal_physiological_respon1.10880598
99MP0001958_emphysema1.10653435
100MP0001324_abnormal_eye_pigmentation1.10208514
101MP0010155_abnormal_intestine_physiology1.09140129
102MP0004133_heterotaxia1.08385902
103MP0006054_spinal_hemorrhage1.07822799
104MP0002272_abnormal_nervous_system1.06806007
105MP0009278_abnormal_bone_marrow1.06593113
106MP0003890_abnormal_embryonic-extraembry1.06423834
107MP0000465_gastrointestinal_hemorrhage1.06243993
108MP0003950_abnormal_plasma_membrane1.05989784
109MP0003795_abnormal_bone_structure1.05060727
110MP0005187_abnormal_penis_morphology1.04901861
111MP0001293_anophthalmia1.04757056
112MP0000858_altered_metastatic_potential1.04618640
113MP0000639_abnormal_adrenal_gland1.04476515
114MP0000647_abnormal_sebaceous_gland1.03984454
115MP0000490_abnormal_crypts_of1.02083886
116MP0002136_abnormal_kidney_physiology1.00816375
117MP0003718_maternal_effect1.00398131
118MP0003448_altered_tumor_morphology0.99784990
119MP0009745_abnormal_behavioral_response0.99506890
120MP0001542_abnormal_bone_strength0.98521737
121MP0005386_behavior/neurological_phenoty0.96924530
122MP0004924_abnormal_behavior0.96924530
123MP0005084_abnormal_gallbladder_morpholo0.96621711
124MP0010386_abnormal_urinary_bladder0.96530285
125MP0005220_abnormal_exocrine_pancreas0.96321979
126* MP0002095_abnormal_skin_pigmentation0.96122907
127MP0000703_abnormal_thymus_morphology0.95801386
128MP0009643_abnormal_urine_homeostasis0.95654477
129MP0010329_abnormal_lipoprotein_level0.95480289
130MP0008875_abnormal_xenobiotic_pharmacok0.94886361
131MP0004782_abnormal_surfactant_physiolog0.94832907
132MP0006292_abnormal_olfactory_placode0.94795089
133MP0005075_abnormal_melanosome_morpholog0.94630485
134MP0000013_abnormal_adipose_tissue0.93743590
135MP0005645_abnormal_hypothalamus_physiol0.93663679
136MP0002006_tumorigenesis0.92519945
137MP0010234_abnormal_vibrissa_follicle0.92161406
138MP0002638_abnormal_pupillary_reflex0.91650681
139MP0008469_abnormal_protein_level0.90344213
140MP0005636_abnormal_mineral_homeostasis0.89812656
141* MP0002075_abnormal_coat/hair_pigmentati0.89566293
142MP0004147_increased_porphyrin_level0.89089385
143MP0010352_gastrointestinal_tract_polyps0.88568641
144MP0003566_abnormal_cell_adhesion0.88534746
145MP0005389_reproductive_system_phenotype0.88130383
146MP0005365_abnormal_bile_salt0.87562793
147MP0001764_abnormal_homeostasis0.86989009
148MP0001849_ear_inflammation0.86012022
149MP0002277_abnormal_respiratory_mucosa0.85690195
150MP0002132_abnormal_respiratory_system0.83684537
151MP0001756_abnormal_urination0.83172607
152MP0002160_abnormal_reproductive_system0.82945190
153MP0001968_abnormal_touch/_nociception0.82179978
154MP0001485_abnormal_pinna_reflex0.82056312
155MP0002693_abnormal_pancreas_physiology0.80895687
156MP0003866_abnormal_defecation0.80573529
157* MP0002557_abnormal_social/conspecific_i0.79115267
158MP0003252_abnormal_bile_duct0.78819152
159MP0003879_abnormal_hair_cell0.77321327
160MP0005195_abnormal_posterior_eye0.76604646
161MP0003943_abnormal_hepatobiliary_system0.76120701
162MP0008995_early_reproductive_senescence0.75838172
163* MP0002229_neurodegeneration0.75287498
164MP0005076_abnormal_cell_differentiation0.75199620
165MP0004381_abnormal_hair_follicle0.74981568
166MP0002078_abnormal_glucose_homeostasis0.72537197
167MP0003011_delayed_dark_adaptation0.72247592
168MP0005248_abnormal_Harderian_gland0.72055491
169MP0001661_extended_life_span0.71515969
170MP0002928_abnormal_bile_duct0.71196745
171MP0003693_abnormal_embryo_hatching0.71090904
172MP0003724_increased_susceptibility_to0.70471891
173MP0003121_genomic_imprinting0.68843769
174MP0003122_maternal_imprinting0.68660786
175MP0006036_abnormal_mitochondrial_physio0.68064957
176MP0008058_abnormal_DNA_repair0.68041057

Predicted human phenotypes

RankGene SetZ-score
1Vacuolated lymphocytes (HP:0001922)6.17516795
2Dysostosis multiplex (HP:0000943)5.14765887
3Increased cerebral lipofuscin (HP:0011813)5.12585673
4Recurrent abscess formation (HP:0002722)4.89161484
5Increased neuronal autofluorescent lipopigment (HP:0002074)4.38440223
6Recurrent bacterial skin infections (HP:0005406)4.38364461
7Abnormality of macrophages (HP:0004311)4.33475098
8Eczematoid dermatitis (HP:0000976)4.23608924
9Urinary glycosaminoglycan excretion (HP:0003541)4.19714930
10Mucopolysacchariduria (HP:0008155)4.19714930
11Abnormality of mucopolysaccharide metabolism (HP:0011020)3.98121628
12Abnormality of polysaccharide metabolism (HP:0011012)3.98121628
13Abnormality of glycosaminoglycan metabolism (HP:0004371)3.98121628
14Abnormality of glycolipid metabolism (HP:0010969)3.90829397
15Abnormality of liposaccharide metabolism (HP:0010968)3.90829397
16Abnormality of glycosphingolipid metabolism (HP:0004343)3.90829397
17Recurrent gram-negative bacterial infections (HP:0005420)3.83755657
18Pancreatic cysts (HP:0001737)3.75697786
19Pancreatic fibrosis (HP:0100732)3.64316024
20Absent frontal sinuses (HP:0002688)3.54597667
21Molar tooth sign on MRI (HP:0002419)3.46817331
22Abnormality of midbrain morphology (HP:0002418)3.46817331
23Congenital sensorineural hearing impairment (HP:0008527)3.40743295
24Aplasia/Hypoplasia of the fovea (HP:0008060)3.39447020
25Hypoplasia of the fovea (HP:0007750)3.39447020
26Congenital stationary night blindness (HP:0007642)3.36395174
27Abnormality of the renal cortex (HP:0011035)3.33386583
28Persistence of primary teeth (HP:0006335)3.30316837
29IgM deficiency (HP:0002850)3.26154237
30True hermaphroditism (HP:0010459)3.22306681
31Interstitial pulmonary disease (HP:0006530)3.21333509
32Spondylolisthesis (HP:0003302)3.15998488
33Hyperventilation (HP:0002883)3.15071151
34Osteolytic defects of the hand bones (HP:0009699)3.09541709
35Osteolytic defects of the phalanges of the hand (HP:0009771)3.09541709
36Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)3.08065886
37Nephronophthisis (HP:0000090)3.00863548
38Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.00284609
39Intestinal atresia (HP:0011100)2.99813928
40Gaze-evoked nystagmus (HP:0000640)2.88912112
41Hematochezia (HP:0002573)2.88393982
42Ketoacidosis (HP:0001993)2.88153765
43Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.86961316
44Large for gestational age (HP:0001520)2.84627055
45Epiphyseal dysplasia (HP:0002656)2.83761730
46Abnormality of the frontal sinuses (HP:0002687)2.80332976
47Abnormality of the renal medulla (HP:0100957)2.77151305
48Gingivitis (HP:0000230)2.76697404
49Abnormality of the fovea (HP:0000493)2.75102626
50Recurrent fungal infections (HP:0002841)2.73966767
513-Methylglutaconic aciduria (HP:0003535)2.72609643
52Type II lissencephaly (HP:0007260)2.68562014
53Severe visual impairment (HP:0001141)2.61080163
54Spontaneous hematomas (HP:0007420)2.60985628
55Recurrent skin infections (HP:0001581)2.59554145
56Methylmalonic acidemia (HP:0002912)2.59534965
57Furrowed tongue (HP:0000221)2.58534258
58Attenuation of retinal blood vessels (HP:0007843)2.58002433
59Osteomyelitis (HP:0002754)2.57420036
60Medial flaring of the eyebrow (HP:0010747)2.54496706
61Renal cortical cysts (HP:0000803)2.53285344
62Autoimmune thrombocytopenia (HP:0001973)2.43909996
63Fair hair (HP:0002286)2.42584907
64Generalized hypopigmentation of hair (HP:0011358)2.42550088
65Chronic hepatic failure (HP:0100626)2.40546972
66Decreased electroretinogram (ERG) amplitude (HP:0000654)2.39414473
67Abnormality of vitamin B metabolism (HP:0004340)2.39336510
68Disinhibition (HP:0000734)2.36149534
69Myositis (HP:0100614)2.35977119
70Abolished electroretinogram (ERG) (HP:0000550)2.35132121
71Periodontitis (HP:0000704)2.33044007
72Hyperactive renin-angiotensin system (HP:0000841)2.33025926
73Chronic obstructive pulmonary disease (HP:0006510)2.30719858
74Obstructive lung disease (HP:0006536)2.30719858
75Aplasia/hypoplasia of the uterus (HP:0008684)2.24377111
76Recurrent viral infections (HP:0004429)2.23476717
77Hypokalemic alkalosis (HP:0001949)2.23400206
78Mediastinal lymphadenopathy (HP:0100721)2.22758868
79Cystic liver disease (HP:0006706)2.20518730
80Abnormality of chloride homeostasis (HP:0011422)2.20308818
81Neoplasm of the adrenal cortex (HP:0100641)2.20280017
82T lymphocytopenia (HP:0005403)2.20101097
83Tubular atrophy (HP:0000092)2.18455349
84Progressive macrocephaly (HP:0004481)2.16443143
85Loss of speech (HP:0002371)2.16135734
86Hypoplasia of the uterus (HP:0000013)2.16053098
87Polyuria (HP:0000103)2.15975954
88Axonal loss (HP:0003447)2.14887693
89Ocular albinism (HP:0001107)2.14838706
90Aplasia/Hypoplasia of the macula (HP:0008059)2.14771084
91Hemiparesis (HP:0001269)2.14709244
92Protuberant abdomen (HP:0001538)2.14460311
93Tetany (HP:0001281)2.11804234
94Volvulus (HP:0002580)2.10951972
95Abnormality of the vasculature of the conjunctiva (HP:0008054)2.10821304
96Ketosis (HP:0001946)2.09856552
97Hypothermia (HP:0002045)2.09391675
98Hand muscle atrophy (HP:0009130)2.08890938
99Abnormal urine output (HP:0012590)2.07688041
100Methylmalonic aciduria (HP:0012120)2.06994627
101Colitis (HP:0002583)2.06938214
102Abnormality of T cell number (HP:0011839)2.06634727
103Aplasia/Hypoplasia affecting the retina (HP:0008061)2.04666388
104Arterial tortuosity (HP:0005116)2.04367744
105Polydipsia (HP:0001959)2.03499178
106Abnormal drinking behavior (HP:0030082)2.03499178
107Metabolic alkalosis (HP:0200114)2.03259776
108Elevated erythrocyte sedimentation rate (HP:0003565)2.03002879
109Hamartoma of the eye (HP:0010568)2.02649726
110Thoracolumbar scoliosis (HP:0002944)2.02279665
111Cellulitis (HP:0100658)2.02239430
112Pendular nystagmus (HP:0012043)2.00575138
113Progressive neurologic deterioration (HP:0002344)2.00202335
114Diminished motivation (HP:0000745)1.98795576
115Vasculitis (HP:0002633)1.98172436
116Acute necrotizing encephalopathy (HP:0006965)1.97947910
117Enlarged penis (HP:0000040)1.97884963
118Abnormal rod and cone electroretinograms (HP:0008323)1.97441960
119Spinal muscular atrophy (HP:0007269)1.97333894
120Male pseudohermaphroditism (HP:0000037)1.96795047
121Thoracic kyphosis (HP:0002942)1.96710661
122Orchitis (HP:0100796)1.95805656
123Chronic mucocutaneous candidiasis (HP:0002728)1.95312023
124Recurrent cutaneous fungal infections (HP:0011370)1.95312023
125Subacute progressive viral hepatitis (HP:0006572)1.95210327
126Inflammation of the large intestine (HP:0002037)1.95031164
127Absent speech (HP:0001344)1.94798942
128Aplasia/Hypoplasia of the tongue (HP:0010295)1.94287743
129Blue irides (HP:0000635)1.93598415
130Gastrointestinal inflammation (HP:0004386)1.93258669
131Congenital, generalized hypertrichosis (HP:0004540)1.92149648
132Abnormality of renal excretion (HP:0011036)1.91844488
133Congenital hepatic fibrosis (HP:0002612)1.90268618
134Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.89228644
135Abnormality of alanine metabolism (HP:0010916)1.89228644
136Hyperalaninemia (HP:0003348)1.89228644
137Increased CSF lactate (HP:0002490)1.88942365
138Progressive inability to walk (HP:0002505)1.88634776
139Sclerocornea (HP:0000647)1.88127606
140Broad-based gait (HP:0002136)1.87605172
141Hypoplastic labia majora (HP:0000059)1.86746575
142Widely spaced teeth (HP:0000687)1.86258141
143Stomatitis (HP:0010280)1.85950521
144Acute encephalopathy (HP:0006846)1.85708184
145Bony spicule pigmentary retinopathy (HP:0007737)1.85542649
146Aplasia/Hypoplasia of the tibia (HP:0005772)1.85539663
147Cerebellar dysplasia (HP:0007033)1.84848787
148Recurrent pneumonia (HP:0006532)1.84442470
149Abnormality of vitamin metabolism (HP:0100508)1.84255175
150Gastrointestinal atresia (HP:0002589)1.84165725
151Congenital primary aphakia (HP:0007707)1.84047404
152Oligodactyly (hands) (HP:0001180)1.83839573
153Retrobulbar optic neuritis (HP:0100654)1.83792545
154Optic neuritis (HP:0100653)1.83792545
155Progressive cerebellar ataxia (HP:0002073)1.83653747
156Pustule (HP:0200039)1.83567180
157Generalized hypopigmentation (HP:0007513)1.82609666
158Decreased central vision (HP:0007663)1.81462266
159Albinism (HP:0001022)1.81173710
160Metaphyseal dysplasia (HP:0100255)1.80405536
161Conjunctival hamartoma (HP:0100780)1.79685855
162Aqueductal stenosis (HP:0002410)1.79613556
163Apathy (HP:0000741)1.79576893
164Patchy hypopigmentation of hair (HP:0011365)1.77473061
165Gait imbalance (HP:0002141)1.76556451
166Mitochondrial inheritance (HP:0001427)1.76440379
167Hypomagnesemia (HP:0002917)1.75725340
168Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.74543025
169Abnormality of the thoracic spine (HP:0100711)1.74107986
170Concave nail (HP:0001598)1.73914142
171Decreased circulating renin level (HP:0003351)1.73562936
172Abnormal pancreas size (HP:0012094)1.73395223
173Increased CSF protein (HP:0002922)1.73023637
174Adrenal hypoplasia (HP:0000835)1.71781766
175Severe short stature (HP:0003510)1.71629018
176Vascular tortuosity (HP:0004948)1.71625562
177Hepatic necrosis (HP:0002605)1.71530678
178Cardiomegaly (HP:0001640)1.70699970
179Recurrent bronchitis (HP:0002837)1.69793940
180Increased corneal curvature (HP:0100692)1.69704628
181Keratoconus (HP:0000563)1.69704628
182Nasal polyposis (HP:0100582)1.69633050
183White forelock (HP:0002211)1.69166270
184Conjunctival telangiectasia (HP:0000524)1.68956183
185Genital tract atresia (HP:0001827)1.67773588
186Restrictive lung disease (HP:0002091)1.67252289
187Abnormality of the nasal mucosa (HP:0000433)1.65939024
188Bile duct proliferation (HP:0001408)1.65920649
189Abnormal biliary tract physiology (HP:0012439)1.65920649
190Chronic otitis media (HP:0000389)1.65830730
191Preaxial hand polydactyly (HP:0001177)1.65609256
192Hypoglycemic coma (HP:0001325)1.64763660
193Agitation (HP:0000713)1.64569931

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.11618382
2FLT33.60497920
3MAP4K23.07500459
4RIPK12.95344022
5PKN22.93260757
6MAP3K102.90634427
7BMPR1B2.87673424
8TRIB32.74121096
9GRK12.55380962
10KIT2.48210390
11TRIM282.36473557
12ADRBK22.35918741
13ACVR1B2.35669878
14EEF2K2.21349170
15ZAK2.09176304
16MAPK152.08691735
17TBK12.07430837
18TGFBR22.01790342
19ERN11.94905610
20ZAP701.91967241
21CSF1R1.83108100
22BRSK21.82778253
23IRAK41.82004045
24FGFR21.79587765
25MST1R1.77751237
26TYK21.76837309
27JAK31.75461991
28STK101.74009684
29MARK31.70041773
30MST41.68894971
31TNIK1.63344359
32TXK1.62536856
33BLK1.59467015
34PINK11.58364029
35PNCK1.57616056
36CAMKK21.57411103
37EIF2AK31.54907178
38STK391.54318561
39SCYL21.52564659
40MAPK131.52255476
41LRRK21.51128967
42ITK1.51097558
43CASK1.47666678
44STK38L1.44260941
45MKNK21.44207280
46STK161.41712136
47STK31.41524162
48PAK31.41242970
49ERBB31.40891208
50PTK61.40239658
51WEE11.39024298
52BTK1.38351832
53RIPK41.38283914
54CAMK1D1.36247601
55CSK1.33517962
56STK241.30888367
57GRK61.29301727
58MAP3K141.28200487
59OXSR11.26294824
60IKBKE1.21882094
61PRKD31.20157414
62HIPK21.19317265
63FER1.18993604
64PRKCE1.17836580
65SYK1.15902057
66CDK121.10449697
67PASK1.09900878
68PLK21.00364831
69TEC0.99525844
70TRPM70.99247300
71HCK0.98477838
72NLK0.98382332
73CDK60.97812590
74LCK0.96895454
75PLK30.96491083
76RPS6KA40.93614623
77LATS10.92537191
78CAMK1G0.91514645
79MAP3K120.89179429
80PHKG10.87938755
81PHKG20.87938755
82TTN0.87898391
83NTRK30.86596971
84CSNK1G10.84280651
85SIK20.84089628
86FGFR30.83496378
87NEK90.81704228
88PTK2B0.80567556
89LYN0.79780298
90PRKCG0.79486032
91PDK20.79232652
92FGR0.78984448
93JAK20.77095137
94CSNK1G20.74782683
95IKBKB0.72949489
96PRKCI0.72391996
97JAK10.70344755
98FGFR40.69724270
99AKT30.69343543
100NUAK10.68542624
101MKNK10.68301127
102CSNK1A1L0.67454276
103MET0.66152968
104BCR0.65765972
105IRAK10.65713015
106TGFBR10.64646409
107ADRBK10.64639585
108PRKG20.63397978
109PIM20.63056515
110PAK40.62880324
111MAP2K30.62810740
112CDK30.61353916
113DDR20.60564333
114MAP3K40.59821100
115MAP3K30.59773538
116WNK30.59019647
117EGFR0.58812335
118TAOK30.58598499
119MAPKAPK30.58355288
120NEK10.55766225
121FGFR10.54734309
122EIF2AK10.54317990
123DYRK1B0.52282028
124PIM10.49957027
125CHUK0.49471738
126DAPK20.48743148
127MAP2K20.48041298
128CAMK2D0.47399768
129MAP3K20.46775054
130PLK10.46679532
131INSRR0.46607489
132PRKCQ0.46121468
133ABL10.45226416
134CAMKK10.45207086
135TLK10.44508776
136MAP2K60.43848686
137BRSK10.43285990
138CAMK2A0.42770457
139PDGFRB0.42546527
140CSNK1A10.42112139
141PRKAA20.41501051
142MAPKAPK50.41426774
143PLK40.41234883
144FRK0.40807156
145VRK10.40449502
146FES0.39958287
147SIK10.39368548
148YES10.39005250
149PRKCH0.38266331
150BMX0.38010910
151PKN10.37930042
152BUB10.37482533
153ATM0.37418161
154WNK40.36225931
155MAPKAPK20.35955055
156PRKACB0.35908800
157FYN0.34896803
158CSNK1D0.34467848
159TNK20.33582833
160NME20.33290638
161EIF2AK20.32794440
162PRKACA0.31864076
163CDK90.31834055
164MAPK110.31379729
165EPHA30.28700646
166MAP2K10.28161412
167INSR0.28017366
168PRKG10.27875280
169EPHB10.27078233
170MTOR0.27059492
171RPS6KB10.26622350
172CSNK1G30.26023631
173MUSK0.25624248
174PRKCA0.25288725
175PRKCD0.25222299
176RPS6KA20.25220997
177CHEK20.23858876

Predicted pathways (KEGG)

RankGene SetZ-score
1Lysosome_Homo sapiens_hsa041423.75806364
2Maturity onset diabetes of the young_Homo sapiens_hsa049503.72970064
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.55812716
4Other glycan degradation_Homo sapiens_hsa005113.52875482
5Glycosaminoglycan degradation_Homo sapiens_hsa005313.06006254
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.71542385
7Butanoate metabolism_Homo sapiens_hsa006502.66734514
8Collecting duct acid secretion_Homo sapiens_hsa049662.63439497
9Protein export_Homo sapiens_hsa030602.63417756
10Leishmaniasis_Homo sapiens_hsa051402.34153621
11Osteoclast differentiation_Homo sapiens_hsa043802.33208562
12Phototransduction_Homo sapiens_hsa047442.25215367
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.24346928
14B cell receptor signaling pathway_Homo sapiens_hsa046622.17693612
15Tuberculosis_Homo sapiens_hsa051522.12943769
16Rheumatoid arthritis_Homo sapiens_hsa053231.99412156
17Vibrio cholerae infection_Homo sapiens_hsa051101.99371400
18Olfactory transduction_Homo sapiens_hsa047401.96887570
19Oxidative phosphorylation_Homo sapiens_hsa001901.92678947
20Tryptophan metabolism_Homo sapiens_hsa003801.91610168
21Propanoate metabolism_Homo sapiens_hsa006401.89122416
22Homologous recombination_Homo sapiens_hsa034401.87931165
23Ether lipid metabolism_Homo sapiens_hsa005651.84066042
24alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.84032183
25Legionellosis_Homo sapiens_hsa051341.81214878
26Phagosome_Homo sapiens_hsa041451.80696963
27Antigen processing and presentation_Homo sapiens_hsa046121.76587830
28Toll-like receptor signaling pathway_Homo sapiens_hsa046201.74458406
29NF-kappa B signaling pathway_Homo sapiens_hsa040641.71009213
30Sulfur metabolism_Homo sapiens_hsa009201.70698830
31Linoleic acid metabolism_Homo sapiens_hsa005911.70647118
32Basal transcription factors_Homo sapiens_hsa030221.70556890
33Nitrogen metabolism_Homo sapiens_hsa009101.66483543
34Primary bile acid biosynthesis_Homo sapiens_hsa001201.62004275
35Apoptosis_Homo sapiens_hsa042101.54443562
36Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.51827372
37Leukocyte transendothelial migration_Homo sapiens_hsa046701.50636973
38Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.47811892
39Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.46525461
40Vitamin B6 metabolism_Homo sapiens_hsa007501.45180016
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.44906869
42Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.43488777
43Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.41585304
44Non-homologous end-joining_Homo sapiens_hsa034501.41189038
45Measles_Homo sapiens_hsa051621.40904005
46Chronic myeloid leukemia_Homo sapiens_hsa052201.38301195
47Insulin secretion_Homo sapiens_hsa049111.37190022
48Carbohydrate digestion and absorption_Homo sapiens_hsa049731.35797405
49T cell receptor signaling pathway_Homo sapiens_hsa046601.35523557
50Peroxisome_Homo sapiens_hsa041461.31887831
51Pertussis_Homo sapiens_hsa051331.28942402
52Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.28821440
53Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.27910152
54Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.27706368
55Fanconi anemia pathway_Homo sapiens_hsa034601.27591344
56RNA polymerase_Homo sapiens_hsa030201.25993915
57Toxoplasmosis_Homo sapiens_hsa051451.24576091
58Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.24339542
59Acute myeloid leukemia_Homo sapiens_hsa052211.24224464
60Hepatitis C_Homo sapiens_hsa051601.21427801
61Primary immunodeficiency_Homo sapiens_hsa053401.21275514
62Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.20232910
63Hematopoietic cell lineage_Homo sapiens_hsa046401.19973061
64Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.19206749
65Folate biosynthesis_Homo sapiens_hsa007901.18264812
66Fatty acid elongation_Homo sapiens_hsa000621.15947541
67Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.15508145
68Malaria_Homo sapiens_hsa051441.13595807
69Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.12765214
70RNA degradation_Homo sapiens_hsa030181.10524504
71Circadian rhythm_Homo sapiens_hsa047101.09991588
72Parkinsons disease_Homo sapiens_hsa050121.09676308
73ABC transporters_Homo sapiens_hsa020101.09643045
74Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.08127079
75Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.07925622
76Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.07869780
77Proteasome_Homo sapiens_hsa030501.07713340
78NOD-like receptor signaling pathway_Homo sapiens_hsa046211.06861509
79Influenza A_Homo sapiens_hsa051641.06709863
80Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.06523496
81Steroid hormone biosynthesis_Homo sapiens_hsa001401.05945309
82Sphingolipid metabolism_Homo sapiens_hsa006001.04637282
83Intestinal immune network for IgA production_Homo sapiens_hsa046721.04427327
84Chemokine signaling pathway_Homo sapiens_hsa040621.03427526
85Fatty acid metabolism_Homo sapiens_hsa012121.02752343
86Hepatitis B_Homo sapiens_hsa051611.02148489
87Chemical carcinogenesis_Homo sapiens_hsa052041.01475380
88Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.99520698
89Fatty acid degradation_Homo sapiens_hsa000710.99417957
90Pancreatic cancer_Homo sapiens_hsa052120.98731332
91Caffeine metabolism_Homo sapiens_hsa002320.97600603
92Colorectal cancer_Homo sapiens_hsa052100.97228335
93Renin-angiotensin system_Homo sapiens_hsa046140.96188084
94TNF signaling pathway_Homo sapiens_hsa046680.95798048
95Viral myocarditis_Homo sapiens_hsa054160.94209489
96Jak-STAT signaling pathway_Homo sapiens_hsa046300.93717536
97RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.92490547
98Nicotine addiction_Homo sapiens_hsa050330.90352834
99Neurotrophin signaling pathway_Homo sapiens_hsa047220.90224989
100beta-Alanine metabolism_Homo sapiens_hsa004100.90154919
101AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.89824613
102Glutathione metabolism_Homo sapiens_hsa004800.89302514
103Regulation of autophagy_Homo sapiens_hsa041400.86955171
104Shigellosis_Homo sapiens_hsa051310.85574469
105Retinol metabolism_Homo sapiens_hsa008300.83615811
106Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.82202682
107Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.81402583
108Arachidonic acid metabolism_Homo sapiens_hsa005900.81233728
109Ovarian steroidogenesis_Homo sapiens_hsa049130.78364396
110Alzheimers disease_Homo sapiens_hsa050100.78033837
111Endometrial cancer_Homo sapiens_hsa052130.77663359
112Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.76704401
113Amoebiasis_Homo sapiens_hsa051460.76343240
114One carbon pool by folate_Homo sapiens_hsa006700.75055150
115Metabolic pathways_Homo sapiens_hsa011000.73494193
116Huntingtons disease_Homo sapiens_hsa050160.73451200
117Serotonergic synapse_Homo sapiens_hsa047260.72288710
118Herpes simplex infection_Homo sapiens_hsa051680.71782988
119Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.71653191
120Steroid biosynthesis_Homo sapiens_hsa001000.70581177
121Platelet activation_Homo sapiens_hsa046110.70502059
122Viral carcinogenesis_Homo sapiens_hsa052030.70492186
123Inositol phosphate metabolism_Homo sapiens_hsa005620.68989257
124Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.68815339
125Staphylococcus aureus infection_Homo sapiens_hsa051500.68219708
126Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.66969400
127Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.66003993
128Salmonella infection_Homo sapiens_hsa051320.65837958
129Glycerolipid metabolism_Homo sapiens_hsa005610.65450154
130Prostate cancer_Homo sapiens_hsa052150.64613999
131Allograft rejection_Homo sapiens_hsa053300.64483905
132Non-small cell lung cancer_Homo sapiens_hsa052230.63130545
133Morphine addiction_Homo sapiens_hsa050320.63012108
134Tyrosine metabolism_Homo sapiens_hsa003500.62173560
135Selenocompound metabolism_Homo sapiens_hsa004500.61516770
136Insulin resistance_Homo sapiens_hsa049310.61177509
137Type II diabetes mellitus_Homo sapiens_hsa049300.59721630
138Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.59475896
139Graft-versus-host disease_Homo sapiens_hsa053320.59323247
140Notch signaling pathway_Homo sapiens_hsa043300.58667550
141Pentose and glucuronate interconversions_Homo sapiens_hsa000400.57800580
142Prolactin signaling pathway_Homo sapiens_hsa049170.57022436
143Dorso-ventral axis formation_Homo sapiens_hsa043200.56255875
144Phosphatidylinositol signaling system_Homo sapiens_hsa040700.55608278
145Fat digestion and absorption_Homo sapiens_hsa049750.54127105
146Histidine metabolism_Homo sapiens_hsa003400.53976411
147Circadian entrainment_Homo sapiens_hsa047130.53709303
148Adherens junction_Homo sapiens_hsa045200.53630057
149SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53596782
150Purine metabolism_Homo sapiens_hsa002300.52825438
151Taste transduction_Homo sapiens_hsa047420.52795000
152Transcriptional misregulation in cancer_Homo sapiens_hsa052020.52783152
153Mineral absorption_Homo sapiens_hsa049780.51822420
154Fatty acid biosynthesis_Homo sapiens_hsa000610.51525722
155Endocytosis_Homo sapiens_hsa041440.51384914
156Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.51222329
157Proteoglycans in cancer_Homo sapiens_hsa052050.49963261
158Glutamatergic synapse_Homo sapiens_hsa047240.49177629
159Vitamin digestion and absorption_Homo sapiens_hsa049770.48418775
160Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47473446
161Lysine degradation_Homo sapiens_hsa003100.47132535
162Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.45728856
163GABAergic synapse_Homo sapiens_hsa047270.45475515
164Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.45062572
165Renin secretion_Homo sapiens_hsa049240.44377594
166Salivary secretion_Homo sapiens_hsa049700.44220045
167Type I diabetes mellitus_Homo sapiens_hsa049400.43846478
168Central carbon metabolism in cancer_Homo sapiens_hsa052300.43543507
169Epstein-Barr virus infection_Homo sapiens_hsa051690.43507826
170N-Glycan biosynthesis_Homo sapiens_hsa005100.43115333
171Thyroid cancer_Homo sapiens_hsa052160.42926501
172VEGF signaling pathway_Homo sapiens_hsa043700.42919290
173mTOR signaling pathway_Homo sapiens_hsa041500.42765435
174Calcium signaling pathway_Homo sapiens_hsa040200.42691012
175HTLV-I infection_Homo sapiens_hsa051660.42518137
176FoxO signaling pathway_Homo sapiens_hsa040680.41368851
177Sphingolipid signaling pathway_Homo sapiens_hsa040710.41316376
178MicroRNAs in cancer_Homo sapiens_hsa052060.40926335
179Glioma_Homo sapiens_hsa052140.40916194
180Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.40897990
181Cysteine and methionine metabolism_Homo sapiens_hsa002700.39581744
182Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38491684
183Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.37533910
184Dopaminergic synapse_Homo sapiens_hsa047280.37131177
185Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.36639261
186Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.34589773
187Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.34252409
188Pancreatic secretion_Homo sapiens_hsa049720.33849879

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