CARD14

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





Description: This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proline biosynthetic process (GO:0006561)8.94911382
2proline metabolic process (GO:0006560)6.86458252
3embryonic process involved in female pregnancy (GO:0060136)6.81942818
4establishment of skin barrier (GO:0061436)6.72601328
5regulation of water loss via skin (GO:0033561)6.62964622
6transcription from mitochondrial promoter (GO:0006390)6.50029920
7desmosome organization (GO:0002934)6.47031307
8behavioral response to nicotine (GO:0035095)6.02615914
9keratinization (GO:0031424)5.80632980
10establishment of apical/basal cell polarity (GO:0035089)5.77365298
11intestinal epithelial cell development (GO:0060576)5.65561277
12regulation of integrin activation (GO:0033623)5.54053795
13replication fork processing (GO:0031297)5.26949642
14positive regulation of protein homooligomerization (GO:0032464)5.00955480
15hemidesmosome assembly (GO:0031581)4.91613564
16establishment of monopolar cell polarity (GO:0061162)4.86180475
17establishment or maintenance of monopolar cell polarity (GO:0061339)4.86180475
18negative regulation of Ras GTPase activity (GO:0034261)4.68924395
19fucose catabolic process (GO:0019317)4.55606006
20L-fucose metabolic process (GO:0042354)4.55606006
21L-fucose catabolic process (GO:0042355)4.55606006
22regulation of protein homooligomerization (GO:0032462)4.46648075
23multicellular organismal water homeostasis (GO:0050891)4.32911311
24mitotic G1 DNA damage checkpoint (GO:0031571)4.17204736
25vitamin transmembrane transport (GO:0035461)4.11397956
26maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)4.09189909
27detection of light stimulus involved in visual perception (GO:0050908)4.07687674
28detection of light stimulus involved in sensory perception (GO:0050962)4.07687674
29DNA deamination (GO:0045006)4.07105353
30trophectodermal cell differentiation (GO:0001829)3.99626631
31bundle of His cell to Purkinje myocyte communication (GO:0086069)3.99582292
32oxidative demethylation (GO:0070989)3.98036633
33mitotic G1/S transition checkpoint (GO:0044819)3.93045079
34pyrimidine-containing compound transmembrane transport (GO:0072531)3.91390298
35negative regulation of JAK-STAT cascade (GO:0046426)3.86328904
36G1 DNA damage checkpoint (GO:0044783)3.81269801
37negative regulation of fatty acid biosynthetic process (GO:0045717)3.81198523
38negative regulation of stress fiber assembly (GO:0051497)3.74681678
39regulation of podosome assembly (GO:0071801)3.73776102
40negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.73667842
41cornea development in camera-type eye (GO:0061303)3.70014743
42axoneme assembly (GO:0035082)3.69202645
43mitochondrial DNA metabolic process (GO:0032042)3.65583618
44GDP-mannose metabolic process (GO:0019673)3.65143521
45phospholipid scrambling (GO:0017121)3.62716251
46tryptophan catabolic process (GO:0006569)3.61687494
47indole-containing compound catabolic process (GO:0042436)3.61687494
48indolalkylamine catabolic process (GO:0046218)3.61687494
49keratinocyte proliferation (GO:0043616)3.60952384
50embryonic camera-type eye development (GO:0031076)3.59652987
51protein localization to endosome (GO:0036010)3.58584954
52positive regulation of transcription from RNA polymerase III promoter (GO:0045945)3.55957569
53keratinocyte differentiation (GO:0030216)3.55590854
54intestinal cholesterol absorption (GO:0030299)3.55532146
55embryonic placenta development (GO:0001892)3.55337787
56water homeostasis (GO:0030104)3.51614572
57kynurenine metabolic process (GO:0070189)3.49931505
58sulfur amino acid catabolic process (GO:0000098)3.49452855
59epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.47643400
60sphingoid metabolic process (GO:0046519)3.46839721
61cellular response to ATP (GO:0071318)3.46172147
62negative regulation of protein oligomerization (GO:0032460)3.45431134
63preassembly of GPI anchor in ER membrane (GO:0016254)3.45147984
64face development (GO:0060324)3.44589928
65indolalkylamine metabolic process (GO:0006586)3.43746171
66hypotonic response (GO:0006971)3.43469076
67labyrinthine layer development (GO:0060711)3.40961270
68purinergic nucleotide receptor signaling pathway (GO:0035590)3.34120979
69glutamine family amino acid biosynthetic process (GO:0009084)3.33403169
70positive regulation of defense response to virus by host (GO:0002230)3.32760883
71negative regulation of telomere maintenance (GO:0032205)3.32494801
72interferon-gamma secretion (GO:0072643)3.31404308
73poly(A)+ mRNA export from nucleus (GO:0016973)3.30501645
74columnar/cuboidal epithelial cell development (GO:0002066)3.29961754
75diol metabolic process (GO:0034311)3.29724290
76formation of translation preinitiation complex (GO:0001731)3.29146599
77sphingosine metabolic process (GO:0006670)3.27932472
78positive regulation of protein oligomerization (GO:0032461)3.27479926
79ectoderm development (GO:0007398)3.25728268
80regulation of memory T cell differentiation (GO:0043380)3.24817746
81cellular ketone body metabolic process (GO:0046950)3.23027006
82negative regulation of cell cycle arrest (GO:0071157)3.22888060
83cellular zinc ion homeostasis (GO:0006882)3.20587469
84epidermal cell differentiation (GO:0009913)3.16817955
85activation of Rac GTPase activity (GO:0032863)3.15894351
86apoptotic process involved in morphogenesis (GO:0060561)3.15139970
87response to pheromone (GO:0019236)3.11573067
88piRNA metabolic process (GO:0034587)3.10062848
89DNA integration (GO:0015074)3.10036099
90phosphatidylinositol acyl-chain remodeling (GO:0036149)3.09753140
91establishment of protein localization to mitochondrial membrane (GO:0090151)3.09486044
92regulation of cholesterol homeostasis (GO:2000188)3.08416770
93platelet dense granule organization (GO:0060155)3.08285973
94regulation of glomerular filtration (GO:0003093)3.07834279
95fucosylation (GO:0036065)3.07457641
96anatomical structure regression (GO:0060033)3.07453101
97somatic hypermutation of immunoglobulin genes (GO:0016446)3.07198420
98somatic diversification of immune receptors via somatic mutation (GO:0002566)3.07198420
99detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.06935593
100sphingomyelin metabolic process (GO:0006684)3.04079507
101regulation of protein oligomerization (GO:0032459)3.03826722
102ketone body metabolic process (GO:1902224)3.03430785
103reciprocal meiotic recombination (GO:0007131)3.02586833
104reciprocal DNA recombination (GO:0035825)3.02586833
105regulation of sister chromatid cohesion (GO:0007063)3.01381521
106renal system process involved in regulation of blood volume (GO:0001977)3.00428055
107cellular response to toxic substance (GO:0097237)2.99237193
108tryptophan metabolic process (GO:0006568)2.97154235
109neuronal action potential (GO:0019228)2.96797546
110convergent extension (GO:0060026)2.96453016
111regulation of nuclear cell cycle DNA replication (GO:0033262)2.94718393
112epithelial cilium movement (GO:0003351)2.93899898
113multicellular organism reproduction (GO:0032504)2.93725167
114regulation of viral release from host cell (GO:1902186)2.93444673
115mitotic cell cycle arrest (GO:0071850)2.92515668
116protein-cofactor linkage (GO:0018065)2.88489485
117protein polyglutamylation (GO:0018095)2.87938688
118purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.87862746
1193-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.87862746
120positive regulation of receptor recycling (GO:0001921)2.87788598
121viral mRNA export from host cell nucleus (GO:0046784)2.87111605
122sulfation (GO:0051923)2.85573815
123L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.85376751
124DNA methylation involved in gamete generation (GO:0043046)2.84950976
125glial cell migration (GO:0008347)2.84740311
126antimicrobial humoral response (GO:0019730)2.84391726
127negative regulation of mast cell activation (GO:0033004)2.83518617
128regulation of translational fidelity (GO:0006450)2.83480850
129positive regulation by host of viral transcription (GO:0043923)2.83201088
130negative regulation of reactive oxygen species metabolic process (GO:2000378)2.82844442
131adaptation of signaling pathway (GO:0023058)2.82569520
132vitamin transport (GO:0051180)2.81849311
133meiotic chromosome segregation (GO:0045132)2.81828659
134synaptic transmission, cholinergic (GO:0007271)2.81605717
135S-adenosylmethionine metabolic process (GO:0046500)2.81410007
136nuclear envelope reassembly (GO:0031468)2.80554868
137mitotic nuclear envelope reassembly (GO:0007084)2.80554868
138DNA strand renaturation (GO:0000733)2.79704060
139alkaloid metabolic process (GO:0009820)2.79599462
140detection of bacterium (GO:0016045)2.79084123
141anterior/posterior axis specification, embryo (GO:0008595)2.78999061
142regulation of hippo signaling (GO:0035330)2.78757976
143positive regulation of fatty acid transport (GO:2000193)2.77699904
144regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)2.76843865
145peptide cross-linking (GO:0018149)2.76224196
146mRNA cleavage (GO:0006379)2.75259743
147antibacterial humoral response (GO:0019731)2.74493739
148glutathione biosynthetic process (GO:0006750)2.74157269
149negative regulation of cell aging (GO:0090344)2.68565691
150respiratory chain complex IV assembly (GO:0008535)2.66438924
151cilium or flagellum-dependent cell motility (GO:0001539)2.64202926
152negative regulation of T cell differentiation in thymus (GO:0033085)2.63321081
153cilium morphogenesis (GO:0060271)2.63300914
154nucleotide transmembrane transport (GO:1901679)2.62484178
155basic amino acid transport (GO:0015802)2.62477577
156GPI anchor metabolic process (GO:0006505)2.62384295
157photoreceptor cell development (GO:0042461)2.60917803
158cellular biogenic amine catabolic process (GO:0042402)2.60614180
159amine catabolic process (GO:0009310)2.60614180
160regulation of cilium movement (GO:0003352)2.59159547
161peristalsis (GO:0030432)2.57607040
162mannosylation (GO:0097502)2.57576557
163phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.57218316
164nephron tubule morphogenesis (GO:0072078)2.56016269
165nephron epithelium morphogenesis (GO:0072088)2.56016269
166regulation of triglyceride biosynthetic process (GO:0010866)2.55501977
167activated T cell proliferation (GO:0050798)2.54505770
168tRNA modification (GO:0006400)2.53188249
169cAMP catabolic process (GO:0006198)2.52423712
170regulation of action potential (GO:0098900)2.50657495
171indole-containing compound metabolic process (GO:0042430)2.49603696
172organic cation transport (GO:0015695)2.48804305
173positive regulation of prostaglandin secretion (GO:0032308)2.48277015
174water-soluble vitamin biosynthetic process (GO:0042364)2.47190005
175cellular response to exogenous dsRNA (GO:0071360)2.47086243
176arginine metabolic process (GO:0006525)2.46559905
177regulation of mesoderm development (GO:2000380)2.45343425
178positive regulation of triglyceride biosynthetic process (GO:0010867)2.45333193
179transepithelial transport (GO:0070633)2.44231765
180cilium movement (GO:0003341)2.43632566
181L-methionine salvage (GO:0071267)2.43606566
182L-methionine biosynthetic process (GO:0071265)2.43606566
183amino acid salvage (GO:0043102)2.43606566
184positive regulation of CREB transcription factor activity (GO:0032793)2.42090146
185regulation of rhodopsin mediated signaling pathway (GO:0022400)2.41609096
186phosphatidylserine acyl-chain remodeling (GO:0036150)2.41249953
187sulfate transmembrane transport (GO:1902358)2.40709186
188negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.39086215
189rhodopsin mediated signaling pathway (GO:0016056)2.38618117
190keratinocyte development (GO:0003334)2.38276623
191RNA destabilization (GO:0050779)2.37962719
192auditory receptor cell stereocilium organization (GO:0060088)2.36658023
193positive regulation of protein kinase C signaling (GO:0090037)2.35322191
194GPI anchor biosynthetic process (GO:0006506)2.35032907
195protein localization to cilium (GO:0061512)2.34895169
196sympathetic nervous system development (GO:0048485)2.31932938

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human8.33138085
2ZNF274_21170338_ChIP-Seq_K562_Hela4.17088169
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.46645404
4VDR_22108803_ChIP-Seq_LS180_Human3.16790594
5ZNF263_19887448_ChIP-Seq_K562_Human3.00380722
6SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.50538089
7CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.47696125
8KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.45057284
9KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.45057284
10KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.45057284
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.41942639
12ESR2_21235772_ChIP-Seq_MCF-7_Human2.33969069
13KLF4_18358816_ChIP-ChIP_MESCs_Mouse2.28816687
14NOTCH1_21737748_ChIP-Seq_TLL_Human2.28023497
15CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.26426569
16* RACK7_27058665_Chip-Seq_MCF-7_Human2.13748077
17LXR_22292898_ChIP-Seq_THP-1_Human2.12947510
18ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.09235183
19SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.07717080
20ESR1_21235772_ChIP-Seq_MCF-7_Human2.06981329
21ERG_21242973_ChIP-ChIP_JURKAT_Human2.02709100
22P63_26484246_Chip-Seq_KERATINOCYTES_Human1.97984050
23CDX2_20551321_ChIP-Seq_CACO-2_Human1.97536085
24HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.97482941
25EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.96747970
26* ERA_21632823_ChIP-Seq_H3396_Human1.94316195
27NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.88187953
28NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.83777201
29TCF3_18692474_ChIP-Seq_MESCs_Mouse1.78213195
30NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.76702127
31SOX2_27498859_Chip-Seq_STOMACH_Mouse1.74508756
32IRF8_22096565_ChIP-ChIP_GC-B_Human1.74048056
33TP53_22573176_ChIP-Seq_HFKS_Human1.73972752
34CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.73829420
35IRF1_19129219_ChIP-ChIP_H3396_Human1.73544009
36GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.73297218
37TRIM28_21343339_ChIP-Seq_HEK293_Human1.72703855
38VDR_21846776_ChIP-Seq_THP-1_Human1.72497693
39GATA3_21878914_ChIP-Seq_MCF-7_Human1.70945733
40TCF3_18692474_ChIP-Seq_MEFs_Mouse1.70537047
41ER_23166858_ChIP-Seq_MCF-7_Human1.69857859
42IGF1R_20145208_ChIP-Seq_DFB_Human1.69363950
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.69197534
44EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.68244498
45EZH2_22144423_ChIP-Seq_EOC_Human1.64958716
46SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.64401789
47KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.62051250
48* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.60174108
49CTBP2_25329375_ChIP-Seq_LNCAP_Human1.58698805
50BCL6_27268052_Chip-Seq_Bcells_Human1.56068627
51TAF2_19829295_ChIP-Seq_ESCs_Human1.55944131
52NANOG_20526341_ChIP-Seq_ESCs_Human1.55796340
53ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.55732990
54DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.54742608
55EWS_26573619_Chip-Seq_HEK293_Human1.54113246
56CTBP1_25329375_ChIP-Seq_LNCAP_Human1.53165249
57OCT4_20526341_ChIP-Seq_ESCs_Human1.52334717
58RUNX1_27514584_Chip-Seq_MCF-7_Human1.51254565
59HOXB7_26014856_ChIP-Seq_BT474_Human1.50855473
60ATF3_27146783_Chip-Seq_COLON_Human1.49789220
61P53_21459846_ChIP-Seq_SAOS-2_Human1.48766464
62KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.48712900
63STAT3_1855785_ChIP-Seq_MESCs_Mouse1.48521628
64GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.47336029
65* MYC_19829295_ChIP-Seq_ESCs_Human1.47186250
66NCOR_22424771_ChIP-Seq_293T_Human1.46445639
67* POU5F1_16518401_ChIP-PET_MESCs_Mouse1.44251792
68GBX2_23144817_ChIP-Seq_PC3_Human1.43819282
69FOXA1_27270436_Chip-Seq_PROSTATE_Human1.42839653
70FOXA1_25329375_ChIP-Seq_VCAP_Human1.42839653
71MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.41221162
72NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.39915291
73PU.1_20513432_ChIP-Seq_Bcells_Mouse1.39497368
74TET1_21451524_ChIP-Seq_MESCs_Mouse1.38785538
75GATA6_25053715_ChIP-Seq_YYC3_Human1.38728312
76FLI1_27457419_Chip-Seq_LIVER_Mouse1.38162210
77POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.36902217
78DROSHA_22980978_ChIP-Seq_HELA_Human1.36308693
79REST_21632747_ChIP-Seq_MESCs_Mouse1.33852795
80TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.32540485
81EGR1_23403033_ChIP-Seq_LIVER_Mouse1.32364054
82PPARA_22158963_ChIP-Seq_LIVER_Mouse1.32168963
83NANOG_18692474_ChIP-Seq_MESCs_Mouse1.32108489
84ETV2_25802403_ChIP-Seq_MESCs_Mouse1.31152356
85* RAC3_21632823_ChIP-Seq_H3396_Human1.30325784
86AR_20517297_ChIP-Seq_VCAP_Human1.29574575
87HIF1A_21447827_ChIP-Seq_MCF-7_Human1.28186881
88ELK3_25401928_ChIP-Seq_HUVEC_Human1.27673260
89CTCF_20526341_ChIP-Seq_ESCs_Human1.27325289
90SOX9_24532713_ChIP-Seq_HFSC_Mouse1.26917654
91FOXH1_21741376_ChIP-Seq_ESCs_Human1.26636537
92E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.26300858
93* BCOR_27268052_Chip-Seq_Bcells_Human1.26174618
94MYC_19079543_ChIP-ChIP_MESCs_Mouse1.26151486
95P300_27268052_Chip-Seq_Bcells_Human1.25931869
96BCAT_22108803_ChIP-Seq_LS180_Human1.25464529
97EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.24236088
98STAT6_21828071_ChIP-Seq_BEAS2B_Human1.23666309
99STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.23612715
100GABP_17652178_ChIP-ChIP_JURKAT_Human1.22154708
101EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.21945228
102RXR_22158963_ChIP-Seq_LIVER_Mouse1.21929030
103P300_27058665_Chip-Seq_ZR-75-30cells_Human1.21593605
104PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.20749638
105NANOG_18692474_ChIP-Seq_MEFs_Mouse1.19595836
106EZH2_27294783_Chip-Seq_ESCs_Mouse1.19263226
107KLF4_18555785_ChIP-Seq_MESCs_Mouse1.18855936
108EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.18827310
109RXRA_24833708_ChIP-Seq_LIVER_Mouse1.18401777
110NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.18396965
111TAF15_26573619_Chip-Seq_HEK293_Human1.18233043
112NANOG_18555785_ChIP-Seq_MESCs_Mouse1.18107084
113IKZF1_21737484_ChIP-ChIP_HCT116_Human1.18095670
114* RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.17363848
115MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.17238129
116SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.17063670
117SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.16950680
118* PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.16483438
119ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.16479205
120SA1_27219007_Chip-Seq_ERYTHROID_Human1.16277543
121PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16222236
122FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.16201853
123GATA3_26560356_Chip-Seq_TH2_Human1.15851028
124SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.15514124
125TP63_22573176_ChIP-Seq_HFKS_Human1.15447923
126PHF8_20622854_ChIP-Seq_HELA_Human1.15302027
127SRY_22984422_ChIP-ChIP_TESTIS_Rat1.14428344
128TDRD3_21172665_ChIP-Seq_MCF-7_Human1.14283258
129RARB_24833708_ChIP-Seq_LIVER_Mouse1.13843258
130AR_21572438_ChIP-Seq_LNCaP_Human1.13538865
131UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.13286500
132PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.12620310
133SOX2_18692474_ChIP-Seq_MEFs_Mouse1.12588553
134MYC_18940864_ChIP-ChIP_HL60_Human1.12160808
135* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.11922029
136E2F1_20622854_ChIP-Seq_HELA_Human1.11663121
137POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.11541413
138STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.10938851
139CTCF_27219007_Chip-Seq_ERYTHROID_Human1.10842582
140BMI1_23680149_ChIP-Seq_NPCS_Mouse1.09578946
141CREB1_26743006_Chip-Seq_LNCaP_Human1.09313156
142SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.09148749
143* P68_20966046_ChIP-Seq_HELA_Human1.08773113
144FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.08574272
145CBX2_27304074_Chip-Seq_ESCs_Mouse1.08425136
146KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07659596
147PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.07428552
148ESR1_20079471_ChIP-ChIP_T-47D_Human1.06919452
149GATA4_25053715_ChIP-Seq_YYC3_Human1.06635719
150* LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.06564182
151NANOG_21062744_ChIP-ChIP_HESCs_Human1.06082900
152YY1_22570637_ChIP-Seq_MALME-3M_Human1.05865389
153SUZ12_27294783_Chip-Seq_ESCs_Mouse1.05620198
154CTCF_21964334_ChIP-Seq_BJAB-B_Human1.05517563
155KLF5_25053715_ChIP-Seq_YYC3_Human1.05142348
156FUS_26573619_Chip-Seq_HEK293_Human1.04808094
157EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.04506877
158PCGF2_27294783_Chip-Seq_ESCs_Mouse1.04186713
159SOX2_20726797_ChIP-Seq_SW620_Human1.04002212
160NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.03993332
161ETS1_21867929_ChIP-Seq_TH2_Mouse1.03710245
162TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03395774
163P300_19829295_ChIP-Seq_ESCs_Human1.02684255
164OCT4_18692474_ChIP-Seq_MEFs_Mouse1.02388052
165SA1_27219007_Chip-Seq_Bcells_Human1.01426091
166CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.01166281
167* TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.01052286
168FOXA1_21572438_ChIP-Seq_LNCaP_Human1.00761224
169VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.00282110
170ZFP281_18757296_ChIP-ChIP_E14_Mouse0.99081163
171ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.98989809
172FOXO3_23340844_ChIP-Seq_DLD1_Human0.98848589
173PPAR_26484153_Chip-Seq_NCI-H1993_Human0.98641834
174PIAS1_25552417_ChIP-Seq_VCAP_Human0.98023879
175TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97979332
176POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.97979332
177CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.97698186
178JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.97531732
179CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.97371702
180MYC_18555785_ChIP-Seq_MESCs_Mouse0.97321541
181SRF_21415370_ChIP-Seq_HL-1_Mouse0.97056225
182TCF4_22108803_ChIP-Seq_LS180_Human0.96997522
183SOX2_18692474_ChIP-Seq_MESCs_Mouse0.96852098
184POU3F2_20337985_ChIP-ChIP_501MEL_Human0.96802433
185UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.96708508
186CTCF_27219007_Chip-Seq_Bcells_Human0.96651170
187RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.96542448
188KDM2B_26808549_Chip-Seq_DND41_Human0.95868602
189REST_18959480_ChIP-ChIP_MESCs_Mouse0.95820737
190NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.95357088

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier6.32801774
2MP0010234_abnormal_vibrissa_follicle4.34701996
3MP0003941_abnormal_skin_development4.04955389
4MP0005501_abnormal_skin_physiology3.82338841
5MP0001986_abnormal_taste_sensitivity3.59444177
6MP0005171_absent_coat_pigmentation3.54310394
7MP0002009_preneoplasia3.35490769
8MP0003453_abnormal_keratinocyte_physiol3.25348090
9MP0000579_abnormal_nail_morphology3.11914694
10MP0005275_abnormal_skin_tensile3.06367978
11MP0002060_abnormal_skin_morphology3.05254330
12MP0001968_abnormal_touch/_nociception3.02863130
13MP0010030_abnormal_orbit_morphology3.00083045
14MP0009278_abnormal_bone_marrow2.80176400
15MP0008875_abnormal_xenobiotic_pharmacok2.66260144
16MP0005551_abnormal_eye_electrophysiolog2.57680570
17MP0008057_abnormal_DNA_replication2.50932843
18MP0002736_abnormal_nociception_after2.46343302
19MP0004264_abnormal_extraembryonic_tissu2.46093837
20MP0003011_delayed_dark_adaptation2.35017271
21MP0005423_abnormal_somatic_nervous2.34031479
22MP0002638_abnormal_pupillary_reflex2.25843040
23MP0001216_abnormal_epidermal_layer2.16919801
24MP0003646_muscle_fatigue2.14021236
25MP0010771_integument_phenotype2.13682762
26MP0004043_abnormal_pH_regulation2.06734418
27MP0002876_abnormal_thyroid_physiology2.05518946
28MP0002102_abnormal_ear_morphology1.98089750
29MP0003195_calcinosis1.97914403
30MP0002098_abnormal_vibrissa_morphology1.96413117
31MP0000467_abnormal_esophagus_morphology1.94208727
32MP0002254_reproductive_system_inflammat1.93494711
33MP0004885_abnormal_endolymph1.91500096
34MP0008872_abnormal_physiological_respon1.89067336
35MP0000762_abnormal_tongue_morphology1.86693782
36MP0003705_abnormal_hypodermis_morpholog1.84704826
37MP0000569_abnormal_digit_pigmentation1.82546357
38MP0001502_abnormal_circadian_rhythm1.82375059
39MP0005253_abnormal_eye_physiology1.79277897
40MP0000015_abnormal_ear_pigmentation1.71775552
41MP0010678_abnormal_skin_adnexa1.68555574
42MP0005451_abnormal_body_composition1.66215236
43MP0010352_gastrointestinal_tract_polyps1.66070246
44MP0008877_abnormal_DNA_methylation1.65489098
45MP0004147_increased_porphyrin_level1.64558717
46MP0004381_abnormal_hair_follicle1.63959566
47MP0002837_dystrophic_cardiac_calcinosis1.60463841
48MP0000462_abnormal_digestive_system1.58314021
49MP0004019_abnormal_vitamin_homeostasis1.56221342
50MP0000372_irregular_coat_pigmentation1.55076992
51MP0000490_abnormal_crypts_of1.51256996
52MP0005076_abnormal_cell_differentiation1.50692201
53MP0001873_stomach_inflammation1.50374138
54MP0001919_abnormal_reproductive_system1.49411126
55MP0003718_maternal_effect1.48838478
56MP0004185_abnormal_adipocyte_glucose1.48741797
57MP0004947_skin_inflammation1.48457281
58MP0003191_abnormal_cellular_cholesterol1.48217604
59MP0003787_abnormal_imprinting1.45289700
60MP0000383_abnormal_hair_follicle1.41278860
61MP0009745_abnormal_behavioral_response1.40271401
62MP0004233_abnormal_muscle_weight1.40233912
63MP0000470_abnormal_stomach_morphology1.37900344
64MP0001188_hyperpigmentation1.36039503
65MP0004142_abnormal_muscle_tone1.32871721
66MP0004742_abnormal_vestibular_system1.29894359
67MP0000377_abnormal_hair_follicle1.29159822
68MP0003566_abnormal_cell_adhesion1.28699629
69MP0009931_abnormal_skin_appearance1.28655852
70MP0002095_abnormal_skin_pigmentation1.27254786
71MP0005167_abnormal_blood-brain_barrier1.27094427
72MP0002272_abnormal_nervous_system1.25190908
73MP0005671_abnormal_response_to1.19505725
74MP0005085_abnormal_gallbladder_physiolo1.18491690
75MP0004133_heterotaxia1.18253701
76MP0005410_abnormal_fertilization1.17090129
77MP0005645_abnormal_hypothalamus_physiol1.16961389
78MP0005397_hematopoietic_system_phenotyp1.15737821
79MP0001545_abnormal_hematopoietic_system1.15737821
80MP0003136_yellow_coat_color1.14458106
81MP0000367_abnormal_coat/_hair1.14409934
82MP0002928_abnormal_bile_duct1.14264748
83MP0000647_abnormal_sebaceous_gland1.13467424
84MP0002282_abnormal_trachea_morphology1.13126515
85MP0002735_abnormal_chemical_nociception1.12655484
86MP0010155_abnormal_intestine_physiology1.11194458
87MP0005389_reproductive_system_phenotype1.11178598
88MP0000013_abnormal_adipose_tissue1.10374160
89MP0002938_white_spotting1.08478172
90MP0005174_abnormal_tail_pigmentation1.07948174
91MP0001756_abnormal_urination1.07780846
92MP0001340_abnormal_eyelid_morphology1.07387136
93MP0001324_abnormal_eye_pigmentation1.06871175
94MP0008995_early_reproductive_senescence1.06684987
95MP0002249_abnormal_larynx_morphology1.06230357
96MP0003119_abnormal_digestive_system1.06212114
97MP0001501_abnormal_sleep_pattern1.05846180
98MP0009046_muscle_twitch1.05304972
99MP0002166_altered_tumor_susceptibility1.02977084
100MP0003806_abnormal_nucleotide_metabolis1.02393456
101MP0006276_abnormal_autonomic_nervous1.02020440
102MP0003283_abnormal_digestive_organ1.01763285
103MP0002572_abnormal_emotion/affect_behav1.01325059
104MP0005646_abnormal_pituitary_gland1.01284716
105MP0001765_abnormal_ion_homeostasis1.00469044
106MP0004957_abnormal_blastocyst_morpholog0.99632674
107MP0001970_abnormal_pain_threshold0.99399576
108MP0000477_abnormal_intestine_morphology0.99051145
109MP0001485_abnormal_pinna_reflex0.98672732
110MP0005332_abnormal_amino_acid0.98390718
111MP0002557_abnormal_social/conspecific_i0.97392134
112MP0002160_abnormal_reproductive_system0.96010188
113MP0006072_abnormal_retinal_apoptosis0.95367364
114MP0002111_abnormal_tail_morphology0.95166401
115MP0002909_abnormal_adrenal_gland0.94004218
116MP0003045_fibrosis0.92951028
117MP0005058_abnormal_lysosome_morphology0.92869627
118MP0000371_diluted_coat_color0.91677126
119MP0005023_abnormal_wound_healing0.90860384
120MP0003880_abnormal_central_pattern0.90827281
121MP0000627_abnormal_mammary_gland0.89672032
122MP0002138_abnormal_hepatobiliary_system0.88852457
123MP0005083_abnormal_biliary_tract0.88792666
124MP0001881_abnormal_mammary_gland0.88196002
125MP0001905_abnormal_dopamine_level0.87686202
126MP0003786_premature_aging0.86507455
127MP0001346_abnormal_lacrimal_gland0.85821386
128MP0010329_abnormal_lipoprotein_level0.85236744
129MP0001666_abnormal_nutrient_absorption0.84900290
130MP0002086_abnormal_extraembryonic_tissu0.84757447
131MP0000685_abnormal_immune_system0.84531196
132MP0005195_abnormal_posterior_eye0.83587625
133MP0003890_abnormal_embryonic-extraembry0.83168274
134MP0000230_abnormal_systemic_arterial0.83095355
135MP0000537_abnormal_urethra_morphology0.82757583
136MP0005377_hearing/vestibular/ear_phenot0.81692234
137MP0003878_abnormal_ear_physiology0.81692234
138MP0002067_abnormal_sensory_capabilities0.80516265
139MP0001849_ear_inflammation0.80263531
140MP0008775_abnormal_heart_ventricle0.79898926
141MP0002064_seizures0.79777575
142MP0002277_abnormal_respiratory_mucosa0.79623229
143MP0002006_tumorigenesis0.79387479
144MP0010386_abnormal_urinary_bladder0.79284666
145MP0002229_neurodegeneration0.78927349
146MP0009053_abnormal_anal_canal0.78665660
147MP0003567_abnormal_fetal_cardiomyocyte0.78620341
148MP0001984_abnormal_olfaction0.77669863
149MP0004145_abnormal_muscle_electrophysio0.77490136
150MP0002693_abnormal_pancreas_physiology0.77085133
151MP0005365_abnormal_bile_salt0.76732961
152MP0004197_abnormal_fetal_growth/weight/0.75804115
153MP0001293_anophthalmia0.75723156
154MP0002084_abnormal_developmental_patter0.75576058
155MP0000026_abnormal_inner_ear0.74415283
156MP0003698_abnormal_male_reproductive0.73484468
157MP0002733_abnormal_thermal_nociception0.73374239
158MP0002752_abnormal_somatic_nervous0.73254735
159MP0000538_abnormal_urinary_bladder0.72785359
160MP0004130_abnormal_muscle_cell0.72384621
161MP0000516_abnormal_urinary_system0.72171386
162MP0005367_renal/urinary_system_phenotyp0.72171386
163MP0003137_abnormal_impulse_conducting0.71871178
164MP0001191_abnormal_skin_condition0.70893938
165MP0001486_abnormal_startle_reflex0.70705610
166MP0004782_abnormal_surfactant_physiolog0.69408248
167MP0002269_muscular_atrophy0.69047994
168MP0003755_abnormal_palate_morphology0.69040139
169MP0005075_abnormal_melanosome_morpholog0.68122025
170MP0002877_abnormal_melanocyte_morpholog0.66279484
171MP0001784_abnormal_fluid_regulation0.66043248
172MP0001697_abnormal_embryo_size0.65627856
173MP0005508_abnormal_skeleton_morphology0.65623731
174MP0003866_abnormal_defecation0.65298944
175MP0000432_abnormal_head_morphology0.63998712
176MP0002085_abnormal_embryonic_tissue0.63420409
177MP0003828_pulmonary_edema0.61433067
178MP0002653_abnormal_ependyma_morphology0.58244307
179MP0005381_digestive/alimentary_phenotyp0.56939666
180MP0000427_abnormal_hair_cycle0.56718586

Predicted human phenotypes

RankGene SetZ-score
1Alopecia of scalp (HP:0002293)6.35651785
2Congenital stationary night blindness (HP:0007642)5.34600452
3Hypotrichosis (HP:0001006)5.30817117
4Concave nail (HP:0001598)4.99702815
5* Pustule (HP:0200039)4.76459276
6Plantar hyperkeratosis (HP:0007556)4.65255053
7Palmoplantar hyperkeratosis (HP:0000972)4.35746816
8Congenital ichthyosiform erythroderma (HP:0007431)4.30951361
9Pancreatic cysts (HP:0001737)4.27636947
10Abnormality of midbrain morphology (HP:0002418)4.19163904
11Molar tooth sign on MRI (HP:0002419)4.19163904
12Right ventricular cardiomyopathy (HP:0011663)4.11652740
13Palmar hyperkeratosis (HP:0010765)4.06986866
14Attenuation of retinal blood vessels (HP:0007843)3.99314920
15Pancreatic fibrosis (HP:0100732)3.91342048
16Abnormal hemoglobin (HP:0011902)3.77865739
17Poikiloderma (HP:0001029)3.58821972
18Popliteal pterygium (HP:0009756)3.58410388
19Type II lissencephaly (HP:0007260)3.56778787
20Rib fusion (HP:0000902)3.54430611
21Nephronophthisis (HP:0000090)3.54076600
22Woolly hair (HP:0002224)3.45646320
23Turricephaly (HP:0000262)3.45310536
24Tubular atrophy (HP:0000092)3.44582696
25True hermaphroditism (HP:0010459)3.41652797
26Rectal fistula (HP:0100590)3.33430060
27Rectovaginal fistula (HP:0000143)3.33430060
28Onycholysis (HP:0001806)3.31502057
29Increased IgE level (HP:0003212)3.29307094
30Abnormality of the renal medulla (HP:0100957)3.26307149
31Abnormality of the renal cortex (HP:0011035)3.23612668
32Fragile nails (HP:0001808)3.21179589
33Nail dystrophy (HP:0008404)3.19901408
34Milia (HP:0001056)3.17857982
35Lip pit (HP:0100267)3.15867267
36Male infertility (HP:0003251)3.15768690
37Polydipsia (HP:0001959)3.14708564
38Abnormal drinking behavior (HP:0030082)3.14708564
39Annular pancreas (HP:0001734)3.09680886
40Cerebellar dysplasia (HP:0007033)3.08614863
41Ulnar bowing (HP:0003031)3.02610618
42Chronic hepatic failure (HP:0100626)2.99271286
43Vaginal fistula (HP:0004320)2.98491103
44Facial hemangioma (HP:0000329)2.97633780
45Intestinal fistula (HP:0100819)2.96840893
46Corneal erosion (HP:0200020)2.94453429
47Pili torti (HP:0003777)2.88860521
48Cheilitis (HP:0100825)2.85402311
49Coronal craniosynostosis (HP:0004440)2.85116980
50Amelogenesis imperfecta (HP:0000705)2.84741553
51Increased IgM level (HP:0003496)2.82986244
52Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.81931920
53Cystic liver disease (HP:0006706)2.80222365
54Pendular nystagmus (HP:0012043)2.79010839
55Abnormal rod and cone electroretinograms (HP:0008323)2.76782612
56Amniotic constriction ring (HP:0009775)2.75959376
57Abnormality of placental membranes (HP:0011409)2.75959376
58Decreased electroretinogram (ERG) amplitude (HP:0000654)2.74407690
59Abnormality of nail color (HP:0100643)2.70268139
60Premature skin wrinkling (HP:0100678)2.69830153
61Hypoplasia of the pons (HP:0012110)2.68114306
62Decreased circulating renin level (HP:0003351)2.66299829
63Bony spicule pigmentary retinopathy (HP:0007737)2.65324284
64Patellar aplasia (HP:0006443)2.64641464
65Abnormal biliary tract physiology (HP:0012439)2.64204208
66Bile duct proliferation (HP:0001408)2.64204208
67Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.62948082
68Short humerus (HP:0005792)2.62575637
69Abnormal blistering of the skin (HP:0008066)2.61534415
70Abolished electroretinogram (ERG) (HP:0000550)2.59569521
71Abnormality of the pons (HP:0007361)2.58415439
72Short chin (HP:0000331)2.57286102
73Polyuria (HP:0000103)2.56648522
74Vertebral hypoplasia (HP:0008417)2.55164076
75Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.55164076
76Chorioretinal atrophy (HP:0000533)2.53875196
77Mesangial abnormality (HP:0001966)2.52463353
78Tongue fasciculations (HP:0001308)2.50627836
79Decreased central vision (HP:0007663)2.50076116
80Aplasia/Hypoplasia of the patella (HP:0006498)2.49288676
81Testicular atrophy (HP:0000029)2.47745061
82Pterygium (HP:0001059)2.47379112
83Urinary glycosaminoglycan excretion (HP:0003541)2.46350964
84Mucopolysacchariduria (HP:0008155)2.46350964
85Aplasia/hypoplasia of the humerus (HP:0006507)2.45913902
86Aplasia of the musculature (HP:0100854)2.45138965
87Erythroderma (HP:0001019)2.43639486
88Inability to walk (HP:0002540)2.43517315
89Dysostosis multiplex (HP:0000943)2.41269724
90Abnormality of the distal phalanges of the toes (HP:0010182)2.39790490
91Muscle fibrillation (HP:0010546)2.39606515
92Clumsiness (HP:0002312)2.38835869
93Congenital hip dislocation (HP:0001374)2.35534894
94Large for gestational age (HP:0001520)2.34789412
95Abnormality of the aortic arch (HP:0012303)2.32434717
96Parakeratosis (HP:0001036)2.32011256
97Congenital hepatic fibrosis (HP:0002612)2.29829604
98Trismus (HP:0000211)2.25524585
99Sparse eyelashes (HP:0000653)2.24981994
100Abnormality of mucopolysaccharide metabolism (HP:0011020)2.23521983
101Abnormality of polysaccharide metabolism (HP:0011012)2.23521983
102Abnormality of glycosaminoglycan metabolism (HP:0004371)2.23521983
103Severe muscular hypotonia (HP:0006829)2.21385818
104Retinal dysplasia (HP:0007973)2.20601490
105Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.19224414
106Abnormality of alanine metabolism (HP:0010916)2.19224414
107Hyperalaninemia (HP:0003348)2.19224414
108Ectropion (HP:0000656)2.18589221
109Alacrima (HP:0000522)2.18313530
110Hyperventilation (HP:0002883)2.18060943
111Ileus (HP:0002595)2.17717208
112Abnormal albumin level (HP:0012116)2.17099850
113Hypoalbuminemia (HP:0003073)2.17099850
114Ventricular fibrillation (HP:0001663)2.14988097
115Erythema (HP:0010783)2.14348955
116Sclerocornea (HP:0000647)2.14090944
117Abnormality of male internal genitalia (HP:0000022)2.13748471
118Absent rod-and cone-mediated responses on ERG (HP:0007688)2.11815614
119Bulbar palsy (HP:0001283)2.10591254
120Absent radius (HP:0003974)2.09533419
121Stomatitis (HP:0010280)2.09400220
122Progressive inability to walk (HP:0002505)2.09109825
123Abnormality of the gastric mucosa (HP:0004295)2.09106900
124Neck muscle weakness (HP:0000467)2.07567448
125Myopathic facies (HP:0002058)2.07043927
126Abnormal urine output (HP:0012590)2.06846260
127Joint stiffness (HP:0001387)2.05195483
128Medial flaring of the eyebrow (HP:0010747)2.04612913
129Abnormality of the neuromuscular junction (HP:0003398)2.04418340
130Fatigable weakness (HP:0003473)2.04418340
131Hypohidrosis (HP:0000966)2.03492052
132Hamartoma (HP:0010566)2.03058871
133Ketosis (HP:0001946)2.02592190
134Choanal stenosis (HP:0000452)2.02112533
135Squamous cell carcinoma (HP:0002860)2.00201240
136Aplasia/Hypoplasia of the fovea (HP:0008060)1.98480765
137Hypoplasia of the fovea (HP:0007750)1.98480765
138Hyporeflexia of lower limbs (HP:0002600)1.97866751
139Lissencephaly (HP:0001339)1.96958837
140Renal cortical cysts (HP:0000803)1.96905530
141Male pseudohermaphroditism (HP:0000037)1.95856687
142Atrophic scars (HP:0001075)1.95848856
143Acanthosis nigricans (HP:0000956)1.94759045
144Aplasia involving forearm bones (HP:0009822)1.94142588
145Absent forearm bone (HP:0003953)1.94142588
146Duplicated collecting system (HP:0000081)1.92831082
147Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.92474311
148Furrowed tongue (HP:0000221)1.91730366
149Anencephaly (HP:0002323)1.90788518
150Anteriorly placed anus (HP:0001545)1.90430591
151Thick nail (HP:0001805)1.89532703
152Diaphragmatic weakness (HP:0009113)1.88582266
153Dysautonomia (HP:0002459)1.87126125
154Abnormality of DNA repair (HP:0003254)1.87084127
155Abnormality of the renal collecting system (HP:0004742)1.86624197
156Gaze-evoked nystagmus (HP:0000640)1.86259172
157Round ear (HP:0100830)1.86126779
158Increased connective tissue (HP:0009025)1.85344979
159Polycythemia (HP:0001901)1.85314059
160Facial diplegia (HP:0001349)1.84584811
161Lipid accumulation in hepatocytes (HP:0006561)1.84364937
162Flat capital femoral epiphysis (HP:0003370)1.83534324
163Absent speech (HP:0001344)1.83353370
164Curly hair (HP:0002212)1.82343996
165Sparse scalp hair (HP:0002209)1.81826110
166Malignant hyperthermia (HP:0002047)1.81808837
167Broad-based gait (HP:0002136)1.81088626
168Split hand (HP:0001171)1.80740111
169Hypoplasia of the ulna (HP:0003022)1.80654182
170Absent thumb (HP:0009777)1.80235378
171Ketoacidosis (HP:0001993)1.78810057
172Genetic anticipation (HP:0003743)1.78058018
173Congenital, generalized hypertrichosis (HP:0004540)1.77762760
174Abnormality of renal excretion (HP:0011036)1.77319974
175Aplasia/hypoplasia of the uterus (HP:0008684)1.77091732
176Birth length less than 3rd percentile (HP:0003561)1.76998975
177Increased neuronal autofluorescent lipopigment (HP:0002074)1.75966458
178IgG deficiency (HP:0004315)1.75586996
179Keratoconus (HP:0000563)1.75300296
180Increased corneal curvature (HP:0100692)1.75300296
181Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.72632086
182Optic disc pallor (HP:0000543)1.70150537
183Photophobia (HP:0000613)1.70021733
184Aplasia/Hypoplasia of the tongue (HP:0010295)1.67127125
185Macular degeneration (HP:0000608)1.66910515
186Protruding tongue (HP:0010808)1.64625484
187Small hand (HP:0200055)1.62516063
188Congenital sensorineural hearing impairment (HP:0008527)1.62201755
189Aplasia/Hypoplasia involving the musculature (HP:0001460)1.61415334
190Aplasia/Hypoplasia of the spleen (HP:0010451)1.61267866
191Occipital encephalocele (HP:0002085)1.61212138
192Adactyly (HP:0009776)1.60887583
193Postaxial foot polydactyly (HP:0001830)1.60873313

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.92515983
2ICK4.89304757
3MAPK154.59169090
4WNK43.98849048
5ADRBK23.61652873
6TAOK33.61273430
7BMPR1B3.60766619
8MAP3K63.46144410
9TLK13.32904264
10MAP3K113.18149432
11MST1R3.16304267
12ACVR1B3.15346023
13ZAK2.96066886
14MATK2.81103252
15TYRO32.62318154
16FGR2.58546458
17PINK12.54419296
18GRK12.41565214
19TRPM72.29288689
20PIM22.28834188
21BMX2.28273200
22AKT32.23766777
23MAP4K22.19300600
24DAPK22.13035844
25TXK2.12369846
26MST42.09090349
27CSK1.93298940
28PDGFRA1.90163338
29DYRK1B1.89934308
30EPHA21.84476501
31TGFBR11.78154890
32NUAK11.62103956
33PRKD21.58979744
34WNK31.57682673
35INSRR1.50738853
36YES11.48834426
37LATS11.46254190
38STK391.42003937
39MAPK131.40961377
40MAPKAPK31.40165751
41GRK61.39334487
42MAP2K61.38361626
43MUSK1.38069560
44MET1.33993062
45UHMK11.29912896
46OXSR11.29771552
47ADRBK11.27177139
48LATS21.23052881
49IKBKB1.21136432
50CDK61.18985633
51CDK71.16534714
52TRIM281.13274270
53MAPK111.12258070
54ERN11.11554251
55RPS6KB21.09375574
56PDK21.08279638
57DAPK11.07873457
58GSK3A1.07836966
59PIM11.03609278
60CDC42BPA1.00493279
61TRIB30.99819021
62SIK20.94929045
63MAP3K30.94918199
64RIPK10.94562767
65MAP2K20.93898657
66RPS6KL10.93441661
67RPS6KC10.93441661
68MAP4K10.92224641
69MAP3K40.91721749
70PHKG10.87608786
71PHKG20.87608786
72DYRK20.87391662
73MARK30.87201610
74FER0.86605951
75EPHB20.86411389
76STK30.85724695
77PAK30.84764376
78LMTK20.82480551
79CHUK0.79801992
80IKBKE0.77741925
81RPS6KA60.77026970
82CAMKK20.75393158
83MAP3K100.75237891
84BLK0.74146500
85TIE10.71526300
86PRKCG0.71087773
87PRKG20.68896720
88STK110.68782295
89PRKAA10.68133374
90KIT0.67859591
91MTOR0.67521529
92RPS6KA10.66896199
93PTK2B0.66140233
94MAP3K20.65966880
95TAOK10.65265664
96CASK0.64850339
97CHEK20.64150860
98NLK0.63927059
99ITK0.63844848
100PIK3CA0.63524566
101IRAK10.61729638
102PRKCQ0.60821567
103STK100.59006704
104PRKCE0.56550124
105PRKAA20.55940980
106EPHA30.55792110
107NTRK30.52586636
108ERBB30.51943680
109PIK3CG0.50977931
110DYRK30.50869933
111RPS6KA50.50491997
112PTK20.49705807
113NEK20.49622927
114PDGFRB0.49334924
115MAP3K70.49199047
116MAP2K70.48229971
117ZAP700.46877178
118SYK0.46707250
119CAMK2G0.46534670
120EPHB10.44882105
121SIK10.44329894
122PLK10.43763442
123CSNK1G20.43694923
124PRKCI0.42578182
125GRK70.41881856
126MAP2K10.41639721
127AURKB0.40361117
128SGK4940.39349810
129SGK2230.39349810
130PRKCZ0.38933097
131MAPKAPK20.36922946
132BTK0.35817630
133PRKACA0.35773865
134EGFR0.35417857
135PAK20.35298230
136STK38L0.34893101
137CSNK1G30.34868004
138CSNK1A1L0.34659635
139CAMK2D0.34249110
140PRKCH0.33726614
141CSNK1D0.33712775
142LCK0.33341243
143DMPK0.32278359
144NEK10.32067832
145CSNK1A10.32005172
146CAMK2B0.31971266
147PRKCA0.31497504
148CAMKK10.31457182
149FRK0.31425670
150NTRK20.30982909
151TNK20.30981831
152WNK10.30688027
153CAMK10.30362453
154TEC0.28564865
155PKN10.28133134
156MAPK120.27209367
157FGFR20.27120483
158NME10.27040656
159ALK0.26920391
160CDK80.26885225
161MAPK30.26854004
162FGFR10.26013895
163OBSCN0.26012468
164TAF10.26004674
165BCKDK0.25927772
166MAPKAPK50.25913021
167MAPK40.25357112
168HIPK20.25176102
169MAPK10.25057376
170LRRK20.24840993
171CSNK2A10.23945623
172PRKD10.23071978
173CDK30.21566731
174NME20.21279396
175CSNK1G10.21158330
176TTK0.20082442
177STK380.20043776
178LYN0.19540649
179ERBB20.18568760

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000616.42691062
2Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006043.68082851
3Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.27423414
4Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.21651425
5Phototransduction_Homo sapiens_hsa047442.83030173
6Nitrogen metabolism_Homo sapiens_hsa009102.71987501
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.68509436
8Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.60916505
9Base excision repair_Homo sapiens_hsa034102.55292373
10Cyanoamino acid metabolism_Homo sapiens_hsa004602.35918055
11Mineral absorption_Homo sapiens_hsa049782.23873438
12Folate biosynthesis_Homo sapiens_hsa007902.21408045
13Arginine and proline metabolism_Homo sapiens_hsa003302.17519189
14Circadian rhythm_Homo sapiens_hsa047102.15537098
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.13352943
16Adherens junction_Homo sapiens_hsa045202.11462650
17Hippo signaling pathway_Homo sapiens_hsa043902.06139913
18Tight junction_Homo sapiens_hsa045301.92878903
19Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.92354730
20Mismatch repair_Homo sapiens_hsa034301.86674915
21Fat digestion and absorption_Homo sapiens_hsa049751.78472046
22alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.68902672
23Bladder cancer_Homo sapiens_hsa052191.68795306
24Fatty acid metabolism_Homo sapiens_hsa012121.66960580
25Fructose and mannose metabolism_Homo sapiens_hsa000511.64690566
26Selenocompound metabolism_Homo sapiens_hsa004501.63701269
27Linoleic acid metabolism_Homo sapiens_hsa005911.61971987
28Intestinal immune network for IgA production_Homo sapiens_hsa046721.60254304
29Notch signaling pathway_Homo sapiens_hsa043301.59381921
30Primary immunodeficiency_Homo sapiens_hsa053401.56177361
31Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.55959205
32Fanconi anemia pathway_Homo sapiens_hsa034601.55703115
33Hedgehog signaling pathway_Homo sapiens_hsa043401.55085061
34Tryptophan metabolism_Homo sapiens_hsa003801.54270888
35Taste transduction_Homo sapiens_hsa047421.51126963
36Butanoate metabolism_Homo sapiens_hsa006501.51047667
37Nicotine addiction_Homo sapiens_hsa050331.49470308
38Maturity onset diabetes of the young_Homo sapiens_hsa049501.47861152
39Caffeine metabolism_Homo sapiens_hsa002321.46968248
40p53 signaling pathway_Homo sapiens_hsa041151.45405483
41mTOR signaling pathway_Homo sapiens_hsa041501.44537930
42Fatty acid elongation_Homo sapiens_hsa000621.37280741
43Galactose metabolism_Homo sapiens_hsa000521.35127397
44Oxidative phosphorylation_Homo sapiens_hsa001901.31238257
45Ovarian steroidogenesis_Homo sapiens_hsa049131.30683091
46Basal cell carcinoma_Homo sapiens_hsa052171.29873397
47Vitamin digestion and absorption_Homo sapiens_hsa049771.29670950
48Sphingolipid metabolism_Homo sapiens_hsa006001.27353318
49Ribosome_Homo sapiens_hsa030101.21473772
50Regulation of autophagy_Homo sapiens_hsa041401.19930451
51VEGF signaling pathway_Homo sapiens_hsa043701.17660228
52Homologous recombination_Homo sapiens_hsa034401.17429888
53Peroxisome_Homo sapiens_hsa041461.17010023
54Histidine metabolism_Homo sapiens_hsa003401.15707634
55Basal transcription factors_Homo sapiens_hsa030221.14875396
56RNA polymerase_Homo sapiens_hsa030201.14591657
57Olfactory transduction_Homo sapiens_hsa047401.14260981
58Arachidonic acid metabolism_Homo sapiens_hsa005901.14202432
59Longevity regulating pathway - mammal_Homo sapiens_hsa042111.10590132
60Chemical carcinogenesis_Homo sapiens_hsa052041.10286758
61Glutathione metabolism_Homo sapiens_hsa004801.08225780
62Morphine addiction_Homo sapiens_hsa050321.05625273
63Biosynthesis of amino acids_Homo sapiens_hsa012301.05444986
642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.03044499
65TGF-beta signaling pathway_Homo sapiens_hsa043501.02138166
66Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.01501928
67Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.00903202
68Dorso-ventral axis formation_Homo sapiens_hsa043200.99227117
69Sulfur relay system_Homo sapiens_hsa041220.95561736
70Primary bile acid biosynthesis_Homo sapiens_hsa001200.94351120
71Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.93381351
72Steroid hormone biosynthesis_Homo sapiens_hsa001400.93241650
73Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91789321
74Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.88384472
75Glycerophospholipid metabolism_Homo sapiens_hsa005640.87639545
76Wnt signaling pathway_Homo sapiens_hsa043100.86599833
77Insulin secretion_Homo sapiens_hsa049110.84590158
78Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.83234548
79Vitamin B6 metabolism_Homo sapiens_hsa007500.81669157
80Steroid biosynthesis_Homo sapiens_hsa001000.81209074
81Pentose and glucuronate interconversions_Homo sapiens_hsa000400.80997336
82Collecting duct acid secretion_Homo sapiens_hsa049660.80179977
83Renin-angiotensin system_Homo sapiens_hsa046140.79563244
84Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79177586
85Parkinsons disease_Homo sapiens_hsa050120.78520302
86Arginine biosynthesis_Homo sapiens_hsa002200.76162204
87Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.75925001
88ABC transporters_Homo sapiens_hsa020100.75706317
89Retinol metabolism_Homo sapiens_hsa008300.72216150
90Calcium signaling pathway_Homo sapiens_hsa040200.71874111
91DNA replication_Homo sapiens_hsa030300.70619740
92Sulfur metabolism_Homo sapiens_hsa009200.70592080
93Shigellosis_Homo sapiens_hsa051310.70500246
94Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.70317480
95Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.69100516
96Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.68379094
97Serotonergic synapse_Homo sapiens_hsa047260.65391161
98Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.65147706
99Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.65045605
100Lysine degradation_Homo sapiens_hsa003100.64967312
101Small cell lung cancer_Homo sapiens_hsa052220.64534622
102MicroRNAs in cancer_Homo sapiens_hsa052060.64449070
103Glutamatergic synapse_Homo sapiens_hsa047240.64416983
104Thyroid cancer_Homo sapiens_hsa052160.63949114
105Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.62544525
106Circadian entrainment_Homo sapiens_hsa047130.62425510
107RNA degradation_Homo sapiens_hsa030180.60030092
108Graft-versus-host disease_Homo sapiens_hsa053320.59927490
109Glycerolipid metabolism_Homo sapiens_hsa005610.59919997
110RNA transport_Homo sapiens_hsa030130.59158427
111Asthma_Homo sapiens_hsa053100.58284259
112beta-Alanine metabolism_Homo sapiens_hsa004100.57929023
113Proteoglycans in cancer_Homo sapiens_hsa052050.56740419
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.56390978
115Regulation of actin cytoskeleton_Homo sapiens_hsa048100.53469193
116AMPK signaling pathway_Homo sapiens_hsa041520.53431499
117Metabolic pathways_Homo sapiens_hsa011000.53063334
118Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.52862213
119Glycosaminoglycan degradation_Homo sapiens_hsa005310.52206841
120Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51924277
121Allograft rejection_Homo sapiens_hsa053300.51798128
122NOD-like receptor signaling pathway_Homo sapiens_hsa046210.51672156
123Vascular smooth muscle contraction_Homo sapiens_hsa042700.51667916
124Choline metabolism in cancer_Homo sapiens_hsa052310.51498246
125Alzheimers disease_Homo sapiens_hsa050100.49010020
126Hematopoietic cell lineage_Homo sapiens_hsa046400.48283968
127Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47128791
128Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.47054563
129GABAergic synapse_Homo sapiens_hsa047270.45520487
130Salivary secretion_Homo sapiens_hsa049700.45411386
131Gap junction_Homo sapiens_hsa045400.45173378
132Autoimmune thyroid disease_Homo sapiens_hsa053200.44525836
133Huntingtons disease_Homo sapiens_hsa050160.44288501
134Lysosome_Homo sapiens_hsa041420.43722609
135Aldosterone synthesis and secretion_Homo sapiens_hsa049250.43595107
136Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43542673
137Protein digestion and absorption_Homo sapiens_hsa049740.42443820
138Purine metabolism_Homo sapiens_hsa002300.42329167
139Type I diabetes mellitus_Homo sapiens_hsa049400.41590447
140ErbB signaling pathway_Homo sapiens_hsa040120.40689891
141Cardiac muscle contraction_Homo sapiens_hsa042600.39358268
142Ether lipid metabolism_Homo sapiens_hsa005650.39137915
143Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38282369
144Salmonella infection_Homo sapiens_hsa051320.37520297
145Jak-STAT signaling pathway_Homo sapiens_hsa046300.37384885
146Acute myeloid leukemia_Homo sapiens_hsa052210.36831198
147Endometrial cancer_Homo sapiens_hsa052130.36571674
148RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.36456217
149Legionellosis_Homo sapiens_hsa051340.36421191
150Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.36169569
151Nucleotide excision repair_Homo sapiens_hsa034200.35095778
152One carbon pool by folate_Homo sapiens_hsa006700.34957415
153GnRH signaling pathway_Homo sapiens_hsa049120.34419656
154Insulin signaling pathway_Homo sapiens_hsa049100.34067074
155Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32905314
156Focal adhesion_Homo sapiens_hsa045100.31176494
157Sphingolipid signaling pathway_Homo sapiens_hsa040710.30431711
158Hepatitis C_Homo sapiens_hsa051600.29556484
159Phenylalanine metabolism_Homo sapiens_hsa003600.29046068
160Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.28713162
161Spliceosome_Homo sapiens_hsa030400.27774097
162Starch and sucrose metabolism_Homo sapiens_hsa005000.27725182
163Carbohydrate digestion and absorption_Homo sapiens_hsa049730.27554019
164ECM-receptor interaction_Homo sapiens_hsa045120.26890566
165cAMP signaling pathway_Homo sapiens_hsa040240.25875215
166PPAR signaling pathway_Homo sapiens_hsa033200.25705669
167mRNA surveillance pathway_Homo sapiens_hsa030150.23069734
168Bile secretion_Homo sapiens_hsa049760.22114117
169Endocytosis_Homo sapiens_hsa041440.21397701
170Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.20969530

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