KCNE4

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: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)6.67106349
2collagen fibril organization (GO:0030199)5.98310774
3negative regulation of complement activation (GO:0045916)5.55626905
4keratan sulfate catabolic process (GO:0042340)4.85418749
5positive regulation of respiratory burst (GO:0060267)4.82558454
6negative regulation of protein activation cascade (GO:2000258)4.52806429
7opsonization (GO:0008228)4.51134014
8vascular endothelial growth factor signaling pathway (GO:0038084)4.49954656
9basement membrane organization (GO:0071711)4.48891624
10collagen catabolic process (GO:0030574)4.44234677
11collagen metabolic process (GO:0032963)4.41256834
12indole-containing compound catabolic process (GO:0042436)4.39336058
13indolalkylamine catabolic process (GO:0046218)4.39336058
14tryptophan catabolic process (GO:0006569)4.39336058
15chondrocyte proliferation (GO:0035988)4.36772252
16skin morphogenesis (GO:0043589)4.36394885
17indolalkylamine metabolic process (GO:0006586)4.33665186
18retina vasculature morphogenesis in camera-type eye (GO:0061299)4.28907504
19kidney mesenchyme development (GO:0072074)4.26528191
20extracellular matrix assembly (GO:0085029)4.23856861
21detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.22158262
22multicellular organismal macromolecule metabolic process (GO:0044259)4.20198423
23glomerular filtration (GO:0003094)4.18045232
24behavioral response to nicotine (GO:0035095)4.14931726
25multicellular organismal catabolic process (GO:0044243)4.14895261
26peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)4.04820147
27blood vessel maturation (GO:0001955)4.02089030
28ovulation from ovarian follicle (GO:0001542)4.01438750
29kynurenine metabolic process (GO:0070189)4.01426872
30multicellular organismal metabolic process (GO:0044236)3.98043805
31bone trabecula formation (GO:0060346)3.97237072
32cell migration involved in heart development (GO:0060973)3.92792004
33renal filtration (GO:0097205)3.86358075
34sequestering of extracellular ligand from receptor (GO:0035581)3.84935974
35neural tube formation (GO:0001841)3.81094282
36gamma-aminobutyric acid transport (GO:0015812)3.80463668
37pathway-restricted SMAD protein phosphorylation (GO:0060389)3.79981001
38tryptophan metabolic process (GO:0006568)3.77720761
39extracellular fibril organization (GO:0043206)3.73963381
40dermatan sulfate biosynthetic process (GO:0030208)3.66020406
41glomerular basement membrane development (GO:0032836)3.63972424
42fucose catabolic process (GO:0019317)3.62349965
43L-fucose metabolic process (GO:0042354)3.62349965
44L-fucose catabolic process (GO:0042355)3.62349965
45metanephric mesenchyme development (GO:0072075)3.61173636
46sulfation (GO:0051923)3.60543428
47negative regulation of humoral immune response (GO:0002921)3.57925021
48endodermal cell differentiation (GO:0035987)3.57352697
49regulation of hippo signaling (GO:0035330)3.50218634
50extracellular matrix disassembly (GO:0022617)3.49547303
51protein K11-linked deubiquitination (GO:0035871)3.42482226
52retinal cone cell development (GO:0046549)3.42136042
53regulation of pigment cell differentiation (GO:0050932)3.41319191
54glial cell migration (GO:0008347)3.40614374
55signal peptide processing (GO:0006465)3.39691486
56detection of light stimulus involved in sensory perception (GO:0050962)3.39441279
57detection of light stimulus involved in visual perception (GO:0050908)3.39441279
58reflex (GO:0060004)3.38405732
59positive regulation of developmental pigmentation (GO:0048087)3.37283066
60epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.30420176
61dermatan sulfate metabolic process (GO:0030205)3.28905365
62cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.28437664
63negative regulation of cardiac muscle tissue growth (GO:0055022)3.27619851
64negative regulation of heart growth (GO:0061117)3.27619851
65cardiac epithelial to mesenchymal transition (GO:0060317)3.25754516
66fibril organization (GO:0097435)3.25406802
67detection of molecule of bacterial origin (GO:0032490)3.23472651
68indole-containing compound metabolic process (GO:0042430)3.19594542
69smooth muscle tissue development (GO:0048745)3.18551873
70atrioventricular valve morphogenesis (GO:0003181)3.17679580
71lymph vessel development (GO:0001945)3.16982339
72regulation of complement activation (GO:0030449)3.14987720
73apoptotic cell clearance (GO:0043277)3.14133312
74endothelial cell morphogenesis (GO:0001886)3.14043032
75cardiac muscle cell proliferation (GO:0060038)3.13667857
76positive regulation of osteoblast proliferation (GO:0033690)3.12981407
77endothelium development (GO:0003158)3.11590073
78virion attachment to host cell (GO:0019062)3.10911277
79adhesion of symbiont to host cell (GO:0044650)3.10911277
80axon extension involved in axon guidance (GO:0048846)3.10572573
81neuron projection extension involved in neuron projection guidance (GO:1902284)3.10572573
82behavioral response to ethanol (GO:0048149)3.10540358
83extracellular matrix organization (GO:0030198)3.09786682
84cell proliferation involved in kidney development (GO:0072111)3.08965696
85tachykinin receptor signaling pathway (GO:0007217)3.08759693
86extracellular structure organization (GO:0043062)3.08438617
87regulation of macrophage cytokine production (GO:0010935)3.08314452
88positive regulation of macrophage activation (GO:0043032)3.07265231
89trabecula formation (GO:0060343)3.06967301
90cell adhesion mediated by integrin (GO:0033627)3.06398243
91amine catabolic process (GO:0009310)3.04688509
92cellular biogenic amine catabolic process (GO:0042402)3.04688509
93establishment of protein localization to Golgi (GO:0072600)3.03941253
94negative regulation of mast cell activation (GO:0033004)3.03762541
95photoreceptor cell maintenance (GO:0045494)3.03491658
96negative regulation of cytosolic calcium ion concentration (GO:0051481)3.01559703
97positive regulation of odontogenesis (GO:0042482)2.98492157
98cell proliferation involved in metanephros development (GO:0072203)2.97285555
99cAMP catabolic process (GO:0006198)2.96920964
100cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.96482357
101response to pheromone (GO:0019236)2.95499805
102gland morphogenesis (GO:0022612)2.95497435
103cilium morphogenesis (GO:0060271)2.94593127
104regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.92213368
105endocardial cushion morphogenesis (GO:0003203)2.91688564
106cellular response to sterol (GO:0036315)2.91399259
107negative regulation of catenin import into nucleus (GO:0035414)2.89640538
108endothelial cell proliferation (GO:0001935)2.87713287
109cilium or flagellum-dependent cell motility (GO:0001539)2.87706833
110positive regulation of p38MAPK cascade (GO:1900745)2.87552522
111lung lobe morphogenesis (GO:0060463)2.84058947
112negative regulation of systemic arterial blood pressure (GO:0003085)2.83357895
113detection of mechanical stimulus involved in sensory perception (GO:0050974)2.82783728
114cellular ketone body metabolic process (GO:0046950)2.82308206
115cyclic nucleotide catabolic process (GO:0009214)2.81525039
116positive regulation of cartilage development (GO:0061036)2.81367667
117regulation of protein activation cascade (GO:2000257)2.80902052
118branching involved in salivary gland morphogenesis (GO:0060445)2.80169072
119negative regulation of translation, ncRNA-mediated (GO:0040033)2.79887820
120regulation of translation, ncRNA-mediated (GO:0045974)2.79887820
121negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.79887820
122adhesion of symbiont to host (GO:0044406)2.77904774
123photoreceptor cell development (GO:0042461)2.77701324
124axoneme assembly (GO:0035082)2.76067661
125heart trabecula formation (GO:0060347)2.75351038
126positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.74636267
127nonmotile primary cilium assembly (GO:0035058)2.72684308
128protein localization to cilium (GO:0061512)2.71730771
129peptidyl-proline hydroxylation (GO:0019511)2.70207396
130NAD biosynthetic process (GO:0009435)2.68593007
131leukocyte migration involved in inflammatory response (GO:0002523)2.68505339
132cGMP-mediated signaling (GO:0019934)2.68022558
133cGMP biosynthetic process (GO:0006182)2.67075817
134serotonin metabolic process (GO:0042428)2.66426797
135cornea development in camera-type eye (GO:0061303)2.65922319
136benzene-containing compound metabolic process (GO:0042537)2.65369340
137ketone body metabolic process (GO:1902224)2.64138470
138craniofacial suture morphogenesis (GO:0097094)2.62092180
139G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.61870573
140wound healing, spreading of epidermal cells (GO:0035313)2.61498111
141regulation of p38MAPK cascade (GO:1900744)2.60635926
142inner ear receptor stereocilium organization (GO:0060122)2.59587735
143adaptation of signaling pathway (GO:0023058)2.59471640
144oxidative demethylation (GO:0070989)2.58496692
145neuronal action potential (GO:0019228)2.58279900
146mesenchyme morphogenesis (GO:0072132)2.57727122
147muscle cell proliferation (GO:0033002)2.57216933
148primary amino compound metabolic process (GO:1901160)2.57212970
149regulation of establishment of cell polarity (GO:2000114)2.56990859
150positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.56931092
151striated muscle cell proliferation (GO:0014855)2.56926798
152regulation of endothelial cell differentiation (GO:0045601)2.56856177
153positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.56711032
154transmission of nerve impulse (GO:0019226)2.56186013
155auditory receptor cell stereocilium organization (GO:0060088)2.55283767
156limb development (GO:0060173)2.55216430
157appendage development (GO:0048736)2.55216430
158epithelial cilium movement (GO:0003351)2.54533878
159cilium organization (GO:0044782)2.54486776
160eye photoreceptor cell development (GO:0042462)2.54108099
161negative regulation of leukocyte chemotaxis (GO:0002689)2.53665347
162muscle cell migration (GO:0014812)2.53662322
163thyroid hormone metabolic process (GO:0042403)2.53593924
164glomerular visceral epithelial cell development (GO:0072015)2.53412915
165snRNA transcription (GO:0009301)2.52924267
166purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.52418314
1673-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.52418314
168positive regulation of epithelial to mesenchymal transition (GO:0010718)2.51015426
169regulation of action potential (GO:0098900)2.50974348
170regulation of posttranscriptional gene silencing (GO:0060147)2.50950302
171regulation of gene silencing by miRNA (GO:0060964)2.50950302
172regulation of gene silencing by RNA (GO:0060966)2.50950302
173blood vessel remodeling (GO:0001974)2.50670204
174phospholipid translocation (GO:0045332)2.49761591
175lipid translocation (GO:0034204)2.49761591
176positive regulation of chondrocyte differentiation (GO:0032332)2.49496238
177ovulation (GO:0030728)2.49464523
178negative regulation of adherens junction organization (GO:1903392)2.49118371
179negative regulation of cell junction assembly (GO:1901889)2.49118371
180monoubiquitinated protein deubiquitination (GO:0035520)2.49069380
181cilium assembly (GO:0042384)2.48757486
182central nervous system neuron axonogenesis (GO:0021955)2.48389342
183protein K48-linked deubiquitination (GO:0071108)2.47529243
184negative regulation of sodium ion transport (GO:0010766)2.46573851
185piRNA metabolic process (GO:0034587)2.46569482
186negative regulation of protein localization to cell surface (GO:2000009)2.44555477
187platelet dense granule organization (GO:0060155)2.43376407
188smooth muscle contraction (GO:0006939)2.42526791
189regulation of sarcomere organization (GO:0060297)2.42061923
190regulation of establishment or maintenance of cell polarity (GO:0032878)2.41765568
191renal tubule morphogenesis (GO:0061333)2.38632534
192embryonic epithelial tube formation (GO:0001838)2.37932417
193protein prenylation (GO:0018342)2.37429956
194prenylation (GO:0097354)2.37429956
195kidney morphogenesis (GO:0060993)2.36959450
196phosphatidylinositol acyl-chain remodeling (GO:0036149)2.35834351
197spinal cord motor neuron differentiation (GO:0021522)2.35232673
198negative regulation of synaptic transmission, GABAergic (GO:0032229)2.34778021
199head development (GO:0060322)2.33497599

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.80248716
2GBX2_23144817_ChIP-Seq_PC3_Human3.56305840
3CLOCK_20551151_ChIP-Seq_293T_Human3.34927404
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.21758676
5* ESR1_22446102_ChIP-Seq_UTERUS_Mouse3.15549332
6PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.13396623
7VDR_22108803_ChIP-Seq_LS180_Human2.90967572
8EZH2_22144423_ChIP-Seq_EOC_Human2.86938820
9ZNF274_21170338_ChIP-Seq_K562_Hela2.81839154
10ZFP57_27257070_Chip-Seq_ESCs_Mouse2.80194993
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.61381255
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.57729875
13TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.48823632
14POU3F2_20337985_ChIP-ChIP_501MEL_Human2.45678308
15IGF1R_20145208_ChIP-Seq_DFB_Human2.43978443
16CTBP2_25329375_ChIP-Seq_LNCAP_Human2.33639784
17EP300_21415370_ChIP-Seq_HL-1_Mouse2.28250049
18ESR1_21235772_ChIP-Seq_MCF-7_Human2.27358820
19CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.25229854
20TAF15_26573619_Chip-Seq_HEK293_Human2.24411749
21CDX2_19796622_ChIP-Seq_MESCs_Mouse2.24353811
22SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.20796931
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.19760232
24SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.18987881
25WT1_19549856_ChIP-ChIP_CCG9911_Human2.15745455
26* CJUN_26792858_Chip-Seq_BT549_Human2.15191327
27* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.12054839
28ESR2_21235772_ChIP-Seq_MCF-7_Human2.11931179
29* P300_19829295_ChIP-Seq_ESCs_Human2.09246748
30* FLI1_27457419_Chip-Seq_LIVER_Mouse2.04808191
31RNF2_18974828_ChIP-Seq_MESCs_Mouse2.03261086
32EZH2_18974828_ChIP-Seq_MESCs_Mouse2.03261086
33FUS_26573619_Chip-Seq_HEK293_Human2.01562954
34TP63_17297297_ChIP-ChIP_HaCaT_Human2.01381335
35SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.00103624
36EWS_26573619_Chip-Seq_HEK293_Human1.96185428
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.91943685
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.90496652
39ER_23166858_ChIP-Seq_MCF-7_Human1.89433640
40SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.86791289
41SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.86090624
42GATA2_21666600_ChIP-Seq_HMVEC_Human1.83690712
43* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.80750119
44* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.80470673
45TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.80221542
46RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.79937742
47* SMAD4_21799915_ChIP-Seq_A2780_Human1.79201496
48RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.77355187
49STAT3_23295773_ChIP-Seq_U87_Human1.76173787
50BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.75544611
51NRF2_20460467_ChIP-Seq_MEFs_Mouse1.73794361
52NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.73794361
53* PCGF2_27294783_Chip-Seq_ESCs_Mouse1.70357660
54WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.69201530
55UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.67611244
56NR3C1_21868756_ChIP-Seq_MCF10A_Human1.66791076
57SALL1_21062744_ChIP-ChIP_HESCs_Human1.66283416
58AR_25329375_ChIP-Seq_VCAP_Human1.59792900
59IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.56395727
60CBP_20019798_ChIP-Seq_JUKART_Human1.56395727
61* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.56248440
62TCF4_23295773_ChIP-Seq_U87_Human1.55815659
63MTF2_20144788_ChIP-Seq_MESCs_Mouse1.54059527
64MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.52262306
65SMAD3_21741376_ChIP-Seq_EPCs_Human1.51662029
66BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.50219349
67JARID2_20075857_ChIP-Seq_MESCs_Mouse1.49469763
68TOP2B_26459242_ChIP-Seq_MCF-7_Human1.48649164
69PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.47946372
70NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.47529054
71PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.45654598
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43251674
73* SUZ12_27294783_Chip-Seq_NPCs_Mouse1.41564656
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.41372550
75* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40285139
76POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.40278549
77TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40278549
78SOX2_20726797_ChIP-Seq_SW620_Human1.39530649
79PPAR_26484153_Chip-Seq_NCI-H1993_Human1.37981873
80* EZH2_27294783_Chip-Seq_NPCs_Mouse1.37207467
81CBX2_27304074_Chip-Seq_ESCs_Mouse1.36994696
82RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.36607378
83MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33628904
84TCF4_22108803_ChIP-Seq_LS180_Human1.32736978
85JARID2_20064375_ChIP-Seq_MESCs_Mouse1.32039597
86* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.32027552
87PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.31594976
88EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.30987081
89EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.30748028
90* PCGF2_27294783_Chip-Seq_NPCs_Mouse1.30219614
91HIF1A_21447827_ChIP-Seq_MCF-7_Human1.30156880
92RUNX2_22187159_ChIP-Seq_PCA_Human1.30066515
93SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.29223702
94FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.28984704
95* NANOG_18555785_Chip-Seq_ESCs_Mouse1.28145280
96SMAD_19615063_ChIP-ChIP_OVARY_Human1.28076382
97* NFE2_27457419_Chip-Seq_LIVER_Mouse1.27730709
98BRD4_25478319_ChIP-Seq_HGPS_Human1.27186708
99ESR1_20079471_ChIP-ChIP_T-47D_Human1.26902477
100FLI1_21867929_ChIP-Seq_TH2_Mouse1.25768865
101SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.25516910
102* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.25360728
103EZH2_27304074_Chip-Seq_ESCs_Mouse1.24984695
104TBX20_22080862_ChIP-Seq_HEART_Mouse1.24599502
105TBX20_22328084_ChIP-Seq_HEART_Mouse1.24599502
106* PRDM14_20953172_ChIP-Seq_ESCs_Human1.24447780
107CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.24115336
108TP53_16413492_ChIP-PET_HCT116_Human1.23988908
109FOXO3_23340844_ChIP-Seq_DLD1_Human1.23961291
110ELK3_25401928_ChIP-Seq_HUVEC_Human1.23758646
111TP53_18474530_ChIP-ChIP_U2OS_Human1.22910950
112SMAD4_21741376_ChIP-Seq_EPCs_Human1.21620010
113* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.21320009
114RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.20173267
115KLF5_20875108_ChIP-Seq_MESCs_Mouse1.19920844
116BMI1_23680149_ChIP-Seq_NPCS_Mouse1.16055799
117* P53_22387025_ChIP-Seq_ESCs_Mouse1.15869208
118WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15862543
119SOX2_19829295_ChIP-Seq_ESCs_Human1.15095485
120NANOG_19829295_ChIP-Seq_ESCs_Human1.15095485
121TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.14818920
122TP53_20018659_ChIP-ChIP_R1E_Mouse1.14566482
123* CRX_20693478_ChIP-Seq_RETINA_Mouse1.14491058
124SMC1_22415368_ChIP-Seq_MEFs_Mouse1.13521127
125SALL4_18804426_ChIP-ChIP_XEN_Mouse1.13255111
126RNF2_27304074_Chip-Seq_NSC_Mouse1.12558831
127STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.12418436
128TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10766537
129CDX2_22108803_ChIP-Seq_LS180_Human1.10492926
130RNF2_27304074_Chip-Seq_ESCs_Mouse1.10488781
131SUZ12_27294783_Chip-Seq_ESCs_Mouse1.09921828
132SOX2_21211035_ChIP-Seq_LN229_Gbm1.09447541
133DROSHA_22980978_ChIP-Seq_HELA_Human1.09182900
134* TP53_22573176_ChIP-Seq_HFKS_Human1.08615146
135KDM2B_26808549_Chip-Seq_REH_Human1.08284130
136* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08229788
137EZH2_27294783_Chip-Seq_ESCs_Mouse1.08227012
138* E2F1_18555785_Chip-Seq_ESCs_Mouse1.07490416
139FOXM1_26456572_ChIP-Seq_MCF-7_Human1.07449991
140THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.06936950
141REST_21632747_ChIP-Seq_MESCs_Mouse1.06558447
142TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.05077606
143IKZF1_21737484_ChIP-ChIP_HCT116_Human1.04695099
144* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.03549061
145* STAT3_18555785_Chip-Seq_ESCs_Mouse1.02545194
146FOXA1_21572438_ChIP-Seq_LNCaP_Human1.02367704
147TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02073412
148IRF1_19129219_ChIP-ChIP_H3396_Human1.02040973
149* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01754776
150PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.01101935
151NFIB_24661679_ChIP-Seq_LUNG_Mouse1.01027014
152ISL1_27105846_Chip-Seq_CPCs_Mouse0.99925597
153BCAT_22108803_ChIP-Seq_LS180_Human0.98864663
154ARNT_22903824_ChIP-Seq_MCF-7_Human0.96928946
155TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95658218
156AR_21572438_ChIP-Seq_LNCaP_Human0.95330588
157* PIAS1_25552417_ChIP-Seq_VCAP_Human0.94389125
158NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.93996605
159SMC3_22415368_ChIP-Seq_MEFs_Mouse0.93399401
160AHR_22903824_ChIP-Seq_MCF-7_Human0.93381347
161NR3C1_23031785_ChIP-Seq_PC12_Mouse0.93045502
162CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.92410389
163ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.92186981
164P300_27058665_Chip-Seq_ZR-75-30cells_Human0.91626118
165SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.90135622
166SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.90135622
167RING1B_27294783_Chip-Seq_ESCs_Mouse0.89982441
168PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.89253103
169KDM2B_26808549_Chip-Seq_SUP-B15_Human0.89200354
170UBF1/2_26484160_Chip-Seq_HMECs_Human0.87706988
171SA1_22415368_ChIP-Seq_MEFs_Mouse0.87524452
172SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.86973870
173TCF4_18268006_ChIP-ChIP_LS174T_Human0.86534892
174* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85955359
175* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.84693412
176ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.80492313
177* MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.80343657
178LXR_22158963_ChIP-Seq_LIVER_Mouse0.79743916
179KDM2B_26808549_Chip-Seq_K562_Human0.78416554

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.63495186
2MP0005503_abnormal_tendon_morphology5.71968568
3MP0005275_abnormal_skin_tensile5.14570618
4MP0000569_abnormal_digit_pigmentation3.83748285
5MP0004272_abnormal_basement_membrane3.77498867
6MP0006054_spinal_hemorrhage3.70467759
7MP0003279_aneurysm3.59462270
8MP0001958_emphysema3.16253648
9MP0003195_calcinosis3.01600820
10MP0005551_abnormal_eye_electrophysiolog2.59555753
11MP0003136_yellow_coat_color2.51702783
12MP0010368_abnormal_lymphatic_system2.49895936
13MP0005623_abnormal_meninges_morphology2.34308078
14MP0003646_muscle_fatigue2.26210253
15MP0008877_abnormal_DNA_methylation2.22460668
16MP0005508_abnormal_skeleton_morphology2.21930454
17MP0000013_abnormal_adipose_tissue2.09421841
18MP0003705_abnormal_hypodermis_morpholog2.09188710
19MP0009046_muscle_twitch2.03837526
20MP0000751_myopathy2.02107342
21MP0010386_abnormal_urinary_bladder2.00973408
22MP0001879_abnormal_lymphatic_vessel1.98498098
23MP0002102_abnormal_ear_morphology1.94291354
24MP0001501_abnormal_sleep_pattern1.93040904
25MP0002108_abnormal_muscle_morphology1.92919439
26MP0004043_abnormal_pH_regulation1.91952325
27MP0001968_abnormal_touch/_nociception1.89460264
28MP0005253_abnormal_eye_physiology1.88976726
29MP0000427_abnormal_hair_cycle1.85034022
30MP0004142_abnormal_muscle_tone1.81394438
31MP0002736_abnormal_nociception_after1.80129223
32MP0003566_abnormal_cell_adhesion1.79760691
33MP0009745_abnormal_behavioral_response1.78838321
34MP0001542_abnormal_bone_strength1.76781002
35MP0002295_abnormal_pulmonary_circulatio1.75878089
36MP0000372_irregular_coat_pigmentation1.75149233
37MP0000767_abnormal_smooth_muscle1.73792346
38MP0002938_white_spotting1.71430392
39MP0003787_abnormal_imprinting1.70079905
40MP0002254_reproductive_system_inflammat1.69895357
41MP0005164_abnormal_response_to1.69089448
42MP0006072_abnormal_retinal_apoptosis1.67297288
43MP0002060_abnormal_skin_morphology1.67087142
44MP0005646_abnormal_pituitary_gland1.66743241
45MP0002735_abnormal_chemical_nociception1.66471890
46MP0008872_abnormal_physiological_respon1.65155861
47MP0005023_abnormal_wound_healing1.61164993
48MP0009384_cardiac_valve_regurgitation1.57751605
49MP0001486_abnormal_startle_reflex1.56108338
50MP0006276_abnormal_autonomic_nervous1.54761748
51MP0004883_abnormal_blood_vessel1.53758995
52MP0005645_abnormal_hypothalamus_physiol1.53365855
53MP0000383_abnormal_hair_follicle1.51962679
54MP0002638_abnormal_pupillary_reflex1.51003108
55MP0004084_abnormal_cardiac_muscle1.50357244
56MP0009250_abnormal_appendicular_skeleto1.50157266
57MP0005174_abnormal_tail_pigmentation1.49009164
58MP0005187_abnormal_penis_morphology1.46894163
59MP0002272_abnormal_nervous_system1.46068205
60MP0002876_abnormal_thyroid_physiology1.45459222
61MP0001986_abnormal_taste_sensitivity1.44481134
62MP0000534_abnormal_ureter_morphology1.42356622
63MP0000343_altered_response_to1.42019799
64MP0004145_abnormal_muscle_electrophysio1.41899023
65MP0002928_abnormal_bile_duct1.41352708
66MP0001485_abnormal_pinna_reflex1.38809897
67MP0004036_abnormal_muscle_relaxation1.37758862
68MP0008057_abnormal_DNA_replication1.36025550
69MP0003385_abnormal_body_wall1.34121901
70MP0003880_abnormal_central_pattern1.30279676
71MP0003890_abnormal_embryonic-extraembry1.29862537
72MP0003252_abnormal_bile_duct1.28703018
73MP0005257_abnormal_intraocular_pressure1.28452448
74MP0002896_abnormal_bone_mineralization1.28167975
75MP0002282_abnormal_trachea_morphology1.28069352
76MP0000631_abnormal_neuroendocrine_gland1.27585351
77MP0005390_skeleton_phenotype1.27562942
78MP0002998_abnormal_bone_remodeling1.27217886
79MP0005595_abnormal_vascular_smooth1.26162812
80MP0004133_heterotaxia1.26059005
81MP0002572_abnormal_emotion/affect_behav1.25642349
82MP0005165_increased_susceptibility_to1.21857376
83MP0001970_abnormal_pain_threshold1.21349439
84MP0001984_abnormal_olfaction1.20958056
85MP0004215_abnormal_myocardial_fiber1.20727607
86MP0000538_abnormal_urinary_bladder1.20643031
87MP0002064_seizures1.20028896
88MP0004885_abnormal_endolymph1.17871768
89MP0002160_abnormal_reproductive_system1.16997080
90MP0006292_abnormal_olfactory_placode1.16478516
91MP0002837_dystrophic_cardiac_calcinosis1.16293047
92MP0005386_behavior/neurological_phenoty1.15111203
93MP0004924_abnormal_behavior1.15111203
94MP0004147_increased_porphyrin_level1.14526596
95MP0002653_abnormal_ependyma_morphology1.13975308
96MP0002115_abnormal_skeleton_extremities1.13428562
97MP0003045_fibrosis1.12954818
98MP0003091_abnormal_cell_migration1.12352791
99MP0005167_abnormal_blood-brain_barrier1.08168613
100MP0002557_abnormal_social/conspecific_i1.08119336
101MP0003011_delayed_dark_adaptation1.07965092
102MP0002067_abnormal_sensory_capabilities1.07840636
103MP0005389_reproductive_system_phenotype1.07359560
104MP0000163_abnormal_cartilage_morphology1.06384369
105MP0002933_joint_inflammation1.06100132
106MP0000003_abnormal_adipose_tissue1.05544499
107MP0000249_abnormal_blood_vessel1.04096107
108MP0001533_abnormal_skeleton_physiology1.01993513
109MP0003635_abnormal_synaptic_transmissio1.01650957
110MP0005195_abnormal_posterior_eye1.01307771
111MP0002733_abnormal_thermal_nociception0.99291087
112MP0001243_abnormal_dermal_layer0.98270384
113MP0002128_abnormal_blood_circulation0.97547898
114MP0000750_abnormal_muscle_regeneration0.97033755
115MP0003724_increased_susceptibility_to0.96389693
116MP0001661_extended_life_span0.96181344
117MP0003828_pulmonary_edema0.94777918
118MP0003115_abnormal_respiratory_system0.93411755
119MP0008775_abnormal_heart_ventricle0.92346712
120MP0001614_abnormal_blood_vessel0.92088409
121MP0004134_abnormal_chest_morphology0.92013156
122MP0008961_abnormal_basal_metabolism0.91305540
123MP0004085_abnormal_heartbeat0.90190524
124MP0005388_respiratory_system_phenotype0.89614251
125MP0002133_abnormal_respiratory_system0.89614251
126MP0000778_abnormal_nervous_system0.89326033
127MP0004484_altered_response_of0.89061146
128MP0005670_abnormal_white_adipose0.88353136
129MP0003937_abnormal_limbs/digits/tail_de0.87744030
130MP0001324_abnormal_eye_pigmentation0.87620467
131MP0009278_abnormal_bone_marrow0.87512460
132MP0005410_abnormal_fertilization0.86782303
133MP0005620_abnormal_muscle_contractility0.86763325
134MP0000733_abnormal_muscle_development0.86551686
135MP0008875_abnormal_xenobiotic_pharmacok0.86435735
136MP0005330_cardiomyopathy0.85737228
137MP0003119_abnormal_digestive_system0.85196720
138MP0002752_abnormal_somatic_nervous0.84809506
139MP0002063_abnormal_learning/memory/cond0.84801140
140MP0002234_abnormal_pharynx_morphology0.84669606
141MP0003448_altered_tumor_morphology0.84262231
142MP0003283_abnormal_digestive_organ0.84098738
143MP0002095_abnormal_skin_pigmentation0.83315618
144MP0002932_abnormal_joint_morphology0.82251684
145MP0005171_absent_coat_pigmentation0.81975970
146MP0003795_abnormal_bone_structure0.81800995
147MP0000681_abnormal_thyroid_gland0.81501352
148MP0002113_abnormal_skeleton_development0.80812049
149MP0000604_amyloidosis0.80260647
150MP0002751_abnormal_autonomic_nervous0.79957226
151MP0003718_maternal_effect0.79935726
152MP0005369_muscle_phenotype0.79920524
153MP0000230_abnormal_systemic_arterial0.79236848
154MP0000647_abnormal_sebaceous_gland0.79121113
155MP0000462_abnormal_digestive_system0.78805839
156MP0005085_abnormal_gallbladder_physiolo0.78709019
157MP0003942_abnormal_urinary_system0.77969836
158MP0003137_abnormal_impulse_conducting0.77861305
159MP0003950_abnormal_plasma_membrane0.72811278
160MP0001299_abnormal_eye_distance/0.72078260
161MP0002168_other_aberrant_phenotype0.71584717
162MP0001175_abnormal_lung_morphology0.71582061
163MP0000428_abnormal_craniofacial_morphol0.70660005
164MP0000749_muscle_degeneration0.69754100
165MP0002925_abnormal_cardiovascular_devel0.69418826
166MP0005197_abnormal_uvea_morphology0.68572572
167MP0002249_abnormal_larynx_morphology0.68561960
168MP0000049_abnormal_middle_ear0.68343678
169MP0006138_congestive_heart_failure0.66234630
170MP0005385_cardiovascular_system_phenoty0.65809785
171MP0001544_abnormal_cardiovascular_syste0.65809785
172MP0003075_altered_response_to0.65487446
173MP0001664_abnormal_digestion0.62427170
174MP0004087_abnormal_muscle_fiber0.62358847
175MP0008004_abnormal_stomach_pH0.61095124
176MP0010030_abnormal_orbit_morphology0.60883131
177MP0002972_abnormal_cardiac_muscle0.60256390
178MP0004858_abnormal_nervous_system0.59740156
179MP0005375_adipose_tissue_phenotype0.59635248
180MP0000759_abnormal_skeletal_muscle0.57896637
181MP0001915_intracranial_hemorrhage0.57256486

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)7.68795280
2Aortic dissection (HP:0002647)6.95038422
3Protrusio acetabuli (HP:0003179)6.94600542
4Ankle contracture (HP:0006466)5.55442717
5Broad metatarsal (HP:0001783)5.26543258
6Aortic aneurysm (HP:0004942)5.17715150
7Pancreatic cysts (HP:0001737)5.04812741
8Cerebral aneurysm (HP:0004944)4.69215170
9Pancreatic fibrosis (HP:0100732)4.62490871
10Soft skin (HP:0000977)4.49770166
11True hermaphroditism (HP:0010459)4.29058136
12Type 1 muscle fiber predominance (HP:0003803)4.26891173
13Hyperventilation (HP:0002883)4.25469377
14Arterial tortuosity (HP:0005116)4.25289177
15Vascular tortuosity (HP:0004948)4.15806672
16Abnormality of midbrain morphology (HP:0002418)3.97800715
17Molar tooth sign on MRI (HP:0002419)3.97800715
18Congenital stationary night blindness (HP:0007642)3.97137698
19Spondylolisthesis (HP:0003302)3.95335018
20Follicular hyperkeratosis (HP:0007502)3.87332913
21Shallow orbits (HP:0000586)3.75430613
22Nephronophthisis (HP:0000090)3.70569471
23Mitral valve prolapse (HP:0001634)3.66128762
24Abnormality of the renal cortex (HP:0011035)3.63385473
25Genetic anticipation (HP:0003743)3.60666697
26Short hallux (HP:0010109)3.58341540
27Atrophic scars (HP:0001075)3.58204158
28Abnormality of the renal medulla (HP:0100957)3.54205185
29Peritonitis (HP:0002586)3.50550590
30Bladder diverticulum (HP:0000015)3.45568499
31Attenuation of retinal blood vessels (HP:0007843)3.43964259
32Abnormality of dentin (HP:0010299)3.38075874
33Gaze-evoked nystagmus (HP:0000640)3.36402351
34Medial flaring of the eyebrow (HP:0010747)3.35842371
35Fragile skin (HP:0001030)3.33702443
36Cystic liver disease (HP:0006706)3.33351390
37Blue sclerae (HP:0000592)3.28789872
38Aplasia/Hypoplasia of the hallux (HP:0008362)3.27855552
39Increased corneal curvature (HP:0100692)3.26227738
40Keratoconus (HP:0000563)3.26227738
41Chronic hepatic failure (HP:0100626)3.21768079
42Increased variability in muscle fiber diameter (HP:0003557)3.14208292
43Spinal rigidity (HP:0003306)3.12887194
44Ulnar bowing (HP:0003031)3.09677288
45Wormian bones (HP:0002645)3.09433093
46Wrist flexion contracture (HP:0001239)3.06895907
47Type II lissencephaly (HP:0007260)3.06498332
48Dilatation of the ascending aorta (HP:0005111)3.03699498
49Slender build (HP:0001533)3.02768346
50Aplasia/Hypoplasia of the tibia (HP:0005772)2.98533281
51Tubular atrophy (HP:0000092)2.97843010
52Progressive cerebellar ataxia (HP:0002073)2.96324195
53Protruding tongue (HP:0010808)2.93402071
54Cervical subluxation (HP:0003308)2.93333315
55Gait imbalance (HP:0002141)2.87734030
56Osteolytic defects of the hand bones (HP:0009699)2.84126733
57Osteolytic defects of the phalanges of the hand (HP:0009771)2.84126733
58Large for gestational age (HP:0001520)2.83061562
59Congenital sensorineural hearing impairment (HP:0008527)2.81959896
60Abnormal delivery (HP:0001787)2.81755302
61Neonatal short-limb short stature (HP:0008921)2.80700575
62Radial bowing (HP:0002986)2.80055300
63Increased connective tissue (HP:0009025)2.77524425
64Congenital primary aphakia (HP:0007707)2.75901897
65Mesomelia (HP:0003027)2.75484054
66Aplasia/Hypoplasia of the tongue (HP:0010295)2.74492808
67Hyperextensible skin (HP:0000974)2.73009309
68Abolished electroretinogram (ERG) (HP:0000550)2.72243972
69Abnormality of skeletal muscle fiber size (HP:0012084)2.66330553
70Congenital, generalized hypertrichosis (HP:0004540)2.64045089
71Venous insufficiency (HP:0005293)2.61089153
72Aneurysm (HP:0002617)2.59460462
73Inability to walk (HP:0002540)2.55700950
74Fair hair (HP:0002286)2.54580421
75Congenital hepatic fibrosis (HP:0002612)2.54546624
76Round ear (HP:0100830)2.54276085
77Renal cortical cysts (HP:0000803)2.53816874
78Furrowed tongue (HP:0000221)2.52404098
79Tarsal synostosis (HP:0008368)2.52037459
80Bowed forearm bones (HP:0003956)2.47463893
81Bowing of the arm (HP:0006488)2.47463893
82Nephrogenic diabetes insipidus (HP:0009806)2.47233638
83Hypoplasia of the iris (HP:0007676)2.47131710
84Persistence of primary teeth (HP:0006335)2.46528287
85Wide anterior fontanel (HP:0000260)2.46181938
86Chorioretinal atrophy (HP:0000533)2.45656994
87Genital tract atresia (HP:0001827)2.45073086
88Delayed closure of the anterior fontanelle (HP:0001476)2.44067378
89Aortic regurgitation (HP:0001659)2.43508310
90Clumsiness (HP:0002312)2.42388185
91Venous abnormality (HP:0002624)2.41870054
92Biconcave vertebral bodies (HP:0004586)2.41209580
93Pulmonary artery stenosis (HP:0004415)2.40028397
94Femoral bowing (HP:0002980)2.39818169
95Vertebral compression fractures (HP:0002953)2.37334612
96Febrile seizures (HP:0002373)2.36727350
97Joint laxity (HP:0001388)2.36531617
98Abnormal drinking behavior (HP:0030082)2.36327982
99Polydipsia (HP:0001959)2.36327982
100Progressive inability to walk (HP:0002505)2.35297670
101Deformed tarsal bones (HP:0008119)2.34611903
102Vaginal atresia (HP:0000148)2.33802014
103Mildly elevated creatine phosphokinase (HP:0008180)2.31980106
104Genu recurvatum (HP:0002816)2.30514767
105Absent speech (HP:0001344)2.29196566
106Striae distensae (HP:0001065)2.28348791
107Elbow flexion contracture (HP:0002987)2.27373906
108Decreased circulating renin level (HP:0003351)2.26716242
109Bony spicule pigmentary retinopathy (HP:0007737)2.25329025
110Sclerocornea (HP:0000647)2.24666838
111Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.24364408
112Abnormality of alanine metabolism (HP:0010916)2.24364408
113Hyperalaninemia (HP:0003348)2.24364408
114Anencephaly (HP:0002323)2.23663745
115Synostosis involving bones of the feet (HP:0009140)2.23335268
116Synostosis involving bones of the lower limbs (HP:0009138)2.23335268
117Broad-based gait (HP:0002136)2.21184800
118Narrow nasal bridge (HP:0000446)2.20971077
119Widely spaced teeth (HP:0000687)2.16530015
120Infantile muscular hypotonia (HP:0008947)2.15702695
121Hypoplastic ischia (HP:0003175)2.13953162
122Systemic lupus erythematosus (HP:0002725)2.12198671
123Postaxial foot polydactyly (HP:0001830)2.12140534
124Muscle fiber splitting (HP:0003555)2.11512534
125Lissencephaly (HP:0001339)2.11157142
126Absent frontal sinuses (HP:0002688)2.10581267
127Cerebellar dysplasia (HP:0007033)2.10498480
128Poor coordination (HP:0002370)2.09717117
129Decreased central vision (HP:0007663)2.09568079
130Pendular nystagmus (HP:0012043)2.08923712
131Dynein arm defect of respiratory motile cilia (HP:0012255)2.07855457
132Absent/shortened dynein arms (HP:0200106)2.07855457
133Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.07610628
134Coronal craniosynostosis (HP:0004440)2.06876303
135Nonimmune hydrops fetalis (HP:0001790)2.06274177
136Abnormal rod and cone electroretinograms (HP:0008323)2.06060688
137Abnormality of the acetabulum (HP:0003170)2.05887668
138Generalized hypopigmentation of hair (HP:0011358)2.05546154
139Focal seizures (HP:0007359)2.05453826
140Short foot (HP:0001773)2.03878370
141Aplasia/Hypoplasia of the fovea (HP:0008060)2.03570384
142Hypoplasia of the fovea (HP:0007750)2.03570384
143Hemiparesis (HP:0001269)2.02773405
144Male pseudohermaphroditism (HP:0000037)2.01857549
145Preaxial foot polydactyly (HP:0001841)2.00789497
146Hyporeflexia of lower limbs (HP:0002600)1.99822195
147Disproportionate tall stature (HP:0001519)1.97452419
148Gingival overgrowth (HP:0000212)1.96840639
149Tibial bowing (HP:0002982)1.95510485
150Broad ribs (HP:0000885)1.94887793
151Bicuspid aortic valve (HP:0001647)1.94733296
152Abnormality of the ischium (HP:0003174)1.93600482
153Stomach cancer (HP:0012126)1.92503898
154Decreased electroretinogram (ERG) amplitude (HP:0000654)1.91491850
155Hematochezia (HP:0002573)1.91425846
156Calcaneovalgus deformity (HP:0001848)1.90786702
157Chondrocalcinosis (HP:0000934)1.90223050
158Ectopia lentis (HP:0001083)1.89715558
159Abnormality of the 2nd finger (HP:0004100)1.88317201
160Osteoarthritis (HP:0002758)1.87819461
161Intestinal atresia (HP:0011100)1.87505935
162Concave nail (HP:0001598)1.87014531
163Tubulointerstitial abnormality (HP:0001969)1.86903079
164Abnormality of the pons (HP:0007361)1.86262366
165Delayed cranial suture closure (HP:0000270)1.86182512
166Abnormality of the phalanges of the 2nd finger (HP:0009541)1.85391908
167Optic nerve hypoplasia (HP:0000609)1.83381968
168Buphthalmos (HP:0000557)1.82619476
169Small hand (HP:0200055)1.82026502
170Abnormality of Sharpey fibers (HP:0100685)1.81509530
171Bulbous nose (HP:0000414)1.81411076
172Polyuria (HP:0000103)1.81131570
173Occipital encephalocele (HP:0002085)1.80926973
174Aplasia/Hypoplasia of the lens (HP:0008063)1.79784711
175Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.79019119
176Abnormality of macular pigmentation (HP:0008002)1.78756193
177Deviation of the hallux (HP:0010051)1.77960852
178Absent toe (HP:0010760)1.77911493
179Dialeptic seizures (HP:0011146)1.77789961
180Abnormal biliary tract physiology (HP:0012439)1.77668971
181Bile duct proliferation (HP:0001408)1.77668971
182Astigmatism (HP:0000483)1.77639387
183Patellar aplasia (HP:0006443)1.77368811
184Tubulointerstitial fibrosis (HP:0005576)1.76996785
185Inguinal hernia (HP:0000023)1.76558616
186Tubulointerstitial nephritis (HP:0001970)1.76218547
187Postaxial hand polydactyly (HP:0001162)1.75868602
188Mitral regurgitation (HP:0001653)1.75859287
189Hypoplasia of the pons (HP:0012110)1.75359064
190Purpura (HP:0000979)1.75285791
191Hypoventilation (HP:0002791)1.74809367
192Focal motor seizures (HP:0011153)1.74772824
193Hallux valgus (HP:0001822)1.73299483
194Bell-shaped thorax (HP:0001591)1.72281061
195Thin skin (HP:0000963)1.71209107
196Polycythemia (HP:0001901)1.70378288
197Scapular winging (HP:0003691)1.70163391
198Broad hallux (HP:0010055)1.69437017

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MYLK5.00788582
2TGFBR24.56819475
3PDGFRA4.12250632
4TTN4.01155474
5DDR23.79667355
6TIE13.54246265
7ACVR1B3.19283478
8BMPR1B3.16057260
9ERN12.74210530
10ADRBK22.60688862
11EPHB22.58475201
12WNK32.34405621
13DMPK2.30355616
14KDR2.28985921
15MAP4K22.22987269
16EPHA32.21608799
17GRK12.13755799
18PAK22.07839982
19FGFR22.03223022
20TAOK32.01713322
21TRIB31.92153903
22EPHB11.89053740
23MAPK131.88365333
24PIK3CG1.86227676
25INSRR1.85169009
26RIPK11.84720401
27KIT1.78959775
28STK38L1.77351535
29ZAK1.66033561
30CASK1.65596397
31PDGFRB1.60429302
32MET1.59903724
33OXSR11.54039409
34PTK2B1.48013333
35MUSK1.47799800
36MAP3K41.44426999
37FER1.42232668
38PINK11.40952098
39NTRK11.34792574
40MKNK21.30904108
41AKT31.30335917
42PDK21.28974549
43TNIK1.27700730
44MARK11.26718874
45SIK11.16891920
46ROCK11.16423395
47DAPK21.13629388
48NTRK31.12716581
49LATS11.12372675
50CDC42BPA1.05157105
51PTK21.04272845
52MAPKAPK51.03951276
53FRK1.01702021
54PTK61.00565498
55DAPK30.98403428
56FGFR40.96531259
57TXK0.95666195
58LATS20.94491709
59PIK3CA0.93298312
60PAK30.91508829
61PKN20.87253273
62MAPK120.85940809
63PRKCG0.83486266
64PAK40.83360799
65PNCK0.83085662
66STK390.80509976
67PRKD10.80442346
68STK30.80151131
69CAMK1G0.79164255
70PRKCH0.79086704
71NLK0.78878676
72CAMKK20.78339886
73LIMK10.77857048
74ABL20.77663799
75TGFBR10.77215154
76BMX0.76570058
77LMTK20.76403804
78FGFR10.74976945
79PRKD20.73470866
80ROCK20.73268102
81CAMK1D0.72079896
82TEC0.71889419
83GSK3A0.70306684
84PKN10.67157925
85LRRK20.66771435
86MST1R0.66602260
87TYRO30.65940065
88CSK0.63848238
89ILK0.63572761
90BRSK20.63129455
91TLK10.62536762
92MKNK10.61664677
93SGK20.61311805
94TRIM280.60473570
95GRK70.59325069
96CAMK2A0.57972935
97TYK20.57824511
98ADRBK10.56451286
99NEK90.56208645
100PHKG10.55526418
101PHKG20.55526418
102CHUK0.55258691
103FGFR30.54787121
104FLT30.54399920
105JAK10.54337509
106INSR0.54147580
107MAP2K10.53600733
108ERBB30.53560847
109PRKD30.52938515
110PAK10.52934888
111RET0.52533032
112MAP2K70.52071609
113MAPK70.51883497
114EPHA40.51072294
115IRAK10.49563623
116STK380.49361144
117OBSCN0.49000552
118SRC0.46366024
119PRKG20.46136655
120MAP2K20.45785416
121STK110.42913454
122TESK10.42635115
123CSNK1A1L0.42481835
124PRKACA0.42206234
125PRKG10.42036136
126WNK40.41675690
127MAP2K60.41380347
128CSNK1G20.41359245
129PDPK10.41232821
130TRPM70.40632299
131MAP3K30.40583858
132CSNK1D0.40080891
133PRKCE0.40037701
134WNK10.39118088
135IKBKB0.39068843
136MAPKAPK30.38861807
137ERBB20.38445637
138CSNK1G10.37490424
139CAMK2G0.36695392
140DYRK20.35211720
141PDK30.35111086
142PDK40.35111086
143PRKAA10.34486311
144IGF1R0.33681118
145DYRK1A0.33527998
146NUAK10.32743757
147GRK50.32296092
148EIF2AK30.31522361
149MAP3K70.31507939
150BCR0.31357940
151SGK4940.29395202
152SGK2230.29395202
153CDK30.29381247
154PRKCZ0.29249970
155PRKACB0.29064729
156CSNK1A10.28727669
157MARK20.28552417
158PRKCA0.27960932
159MAPK150.27818447
160PLK20.27262163
161MAPK40.25693306
162MTOR0.24076829
163ABL10.24075715
164CAMK10.22121175
165PRKAA20.21857117
166EGFR0.21311140

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.74440354
2Focal adhesion_Homo sapiens_hsa045103.11280462
3Phototransduction_Homo sapiens_hsa047442.88007557
4Protein digestion and absorption_Homo sapiens_hsa049742.62882750
5Linoleic acid metabolism_Homo sapiens_hsa005912.44644271
6Nicotine addiction_Homo sapiens_hsa050332.44263481
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.40947090
8Amoebiasis_Homo sapiens_hsa051462.34879618
9Butanoate metabolism_Homo sapiens_hsa006502.33380539
10Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.27136269
11Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.25333230
12Dilated cardiomyopathy_Homo sapiens_hsa054142.25325156
13Malaria_Homo sapiens_hsa051442.22984247
14AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.13746896
15Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.12832157
16Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.12360901
17Tryptophan metabolism_Homo sapiens_hsa003802.06935203
18ABC transporters_Homo sapiens_hsa020102.06925221
19Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.96346227
20TGF-beta signaling pathway_Homo sapiens_hsa043501.89991850
21Proteoglycans in cancer_Homo sapiens_hsa052051.86196718
22Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.84124080
23Primary bile acid biosynthesis_Homo sapiens_hsa001201.82009128
24Maturity onset diabetes of the young_Homo sapiens_hsa049501.81537683
25Glycosaminoglycan degradation_Homo sapiens_hsa005311.80207660
26Vascular smooth muscle contraction_Homo sapiens_hsa042701.80175760
27Morphine addiction_Homo sapiens_hsa050321.77464337
28Steroid hormone biosynthesis_Homo sapiens_hsa001401.76492796
29Ether lipid metabolism_Homo sapiens_hsa005651.75530943
30Complement and coagulation cascades_Homo sapiens_hsa046101.72656910
31Taste transduction_Homo sapiens_hsa047421.71101538
32PI3K-Akt signaling pathway_Homo sapiens_hsa041511.62130380
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.55710860
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.55151422
35Olfactory transduction_Homo sapiens_hsa047401.48097165
36Selenocompound metabolism_Homo sapiens_hsa004501.45742561
37Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.45158980
38Circadian entrainment_Homo sapiens_hsa047131.43863026
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.41203358
40Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.38223947
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.38217993
42Glutamatergic synapse_Homo sapiens_hsa047241.35696260
43Serotonergic synapse_Homo sapiens_hsa047261.33054311
44GABAergic synapse_Homo sapiens_hsa047271.31913385
45Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.31693822
46Chemical carcinogenesis_Homo sapiens_hsa052041.29179936
47Rheumatoid arthritis_Homo sapiens_hsa053231.25900080
48Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.24868543
49Small cell lung cancer_Homo sapiens_hsa052221.22352681
50Histidine metabolism_Homo sapiens_hsa003401.20130482
51Thyroid hormone synthesis_Homo sapiens_hsa049181.19381903
52Homologous recombination_Homo sapiens_hsa034401.19202535
53Insulin secretion_Homo sapiens_hsa049111.17586622
54Lysosome_Homo sapiens_hsa041421.16242724
55Staphylococcus aureus infection_Homo sapiens_hsa051501.12212870
56Platelet activation_Homo sapiens_hsa046111.11624360
57Adherens junction_Homo sapiens_hsa045201.11027370
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.10416055
59Leukocyte transendothelial migration_Homo sapiens_hsa046701.10193143
60Regulation of actin cytoskeleton_Homo sapiens_hsa048101.08094190
61Fanconi anemia pathway_Homo sapiens_hsa034601.06302229
62Renin secretion_Homo sapiens_hsa049241.05053316
63Basal transcription factors_Homo sapiens_hsa030221.04815495
64Hippo signaling pathway_Homo sapiens_hsa043901.04430456
65Glycerolipid metabolism_Homo sapiens_hsa005611.03534887
66Propanoate metabolism_Homo sapiens_hsa006401.02925170
67Retinol metabolism_Homo sapiens_hsa008301.01066971
68Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.98715113
69Rap1 signaling pathway_Homo sapiens_hsa040150.98692875
70Caffeine metabolism_Homo sapiens_hsa002320.98323151
71Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.98214337
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.98207147
73MicroRNAs in cancer_Homo sapiens_hsa052060.97746932
74cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95179864
75Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.94454428
76Osteoclast differentiation_Homo sapiens_hsa043800.94335556
77Circadian rhythm_Homo sapiens_hsa047100.93712929
78Basal cell carcinoma_Homo sapiens_hsa052170.93027973
79Nitrogen metabolism_Homo sapiens_hsa009100.91995537
80Pathways in cancer_Homo sapiens_hsa052000.89101512
81Toxoplasmosis_Homo sapiens_hsa051450.89034770
82Phagosome_Homo sapiens_hsa041450.88260717
83Ras signaling pathway_Homo sapiens_hsa040140.86963718
84Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.86868515
85Axon guidance_Homo sapiens_hsa043600.85986157
86beta-Alanine metabolism_Homo sapiens_hsa004100.85977738
87Pertussis_Homo sapiens_hsa051330.83046606
88Prion diseases_Homo sapiens_hsa050200.82899327
89Renal cell carcinoma_Homo sapiens_hsa052110.81151382
90Tight junction_Homo sapiens_hsa045300.80470664
91Protein export_Homo sapiens_hsa030600.80008947
92Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.79365574
93Other glycan degradation_Homo sapiens_hsa005110.79150844
94Arachidonic acid metabolism_Homo sapiens_hsa005900.78963940
95Hedgehog signaling pathway_Homo sapiens_hsa043400.78736751
96Dorso-ventral axis formation_Homo sapiens_hsa043200.78473135
97Peroxisome_Homo sapiens_hsa041460.77750937
98Viral myocarditis_Homo sapiens_hsa054160.77450433
99Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.75052627
100Long-term depression_Homo sapiens_hsa047300.73011770
101Mineral absorption_Homo sapiens_hsa049780.72824217
102Chronic myeloid leukemia_Homo sapiens_hsa052200.71364562
103Estrogen signaling pathway_Homo sapiens_hsa049150.71136323
104Sphingolipid metabolism_Homo sapiens_hsa006000.70614596
105Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.70445794
106Intestinal immune network for IgA production_Homo sapiens_hsa046720.69662006
107Cholinergic synapse_Homo sapiens_hsa047250.68905475
108Gap junction_Homo sapiens_hsa045400.66819024
109PPAR signaling pathway_Homo sapiens_hsa033200.66774271
110Gastric acid secretion_Homo sapiens_hsa049710.64685391
111Pancreatic cancer_Homo sapiens_hsa052120.64193520
112Phospholipase D signaling pathway_Homo sapiens_hsa040720.63485907
113TNF signaling pathway_Homo sapiens_hsa046680.63316092
114Oxidative phosphorylation_Homo sapiens_hsa001900.63170759
115Renin-angiotensin system_Homo sapiens_hsa046140.61917513
116Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.61771223
117Leishmaniasis_Homo sapiens_hsa051400.59778747
118Adipocytokine signaling pathway_Homo sapiens_hsa049200.59345775
119Dopaminergic synapse_Homo sapiens_hsa047280.58464599
120Oxytocin signaling pathway_Homo sapiens_hsa049210.58243435
121Salmonella infection_Homo sapiens_hsa051320.58039152
122Glioma_Homo sapiens_hsa052140.57422166
123RNA polymerase_Homo sapiens_hsa030200.56947231
124Fatty acid biosynthesis_Homo sapiens_hsa000610.56923238
125Notch signaling pathway_Homo sapiens_hsa043300.56001827
126Insulin resistance_Homo sapiens_hsa049310.54485735
127Pancreatic secretion_Homo sapiens_hsa049720.54226653
128Melanoma_Homo sapiens_hsa052180.54216017
129Regulation of autophagy_Homo sapiens_hsa041400.53819511
130cAMP signaling pathway_Homo sapiens_hsa040240.53671734
131Bladder cancer_Homo sapiens_hsa052190.53529616
132Bile secretion_Homo sapiens_hsa049760.53373440
133Melanogenesis_Homo sapiens_hsa049160.53310488
134Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52898367
135Prostate cancer_Homo sapiens_hsa052150.52874996
136Glutathione metabolism_Homo sapiens_hsa004800.52749677
137Cyanoamino acid metabolism_Homo sapiens_hsa004600.51217421
138Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.51095475
139RNA degradation_Homo sapiens_hsa030180.50601929
140GnRH signaling pathway_Homo sapiens_hsa049120.48940652
141Fat digestion and absorption_Homo sapiens_hsa049750.48617595
142Collecting duct acid secretion_Homo sapiens_hsa049660.48474412
143Vitamin digestion and absorption_Homo sapiens_hsa049770.48346478
144Lysine degradation_Homo sapiens_hsa003100.48169303
145Cocaine addiction_Homo sapiens_hsa050300.47230993
146Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.46248162
147Cardiac muscle contraction_Homo sapiens_hsa042600.45736165
148Wnt signaling pathway_Homo sapiens_hsa043100.45584640
149MAPK signaling pathway_Homo sapiens_hsa040100.44120087
150Tuberculosis_Homo sapiens_hsa051520.43928700
151Endocytosis_Homo sapiens_hsa041440.42099029
152Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.41383239
153Calcium signaling pathway_Homo sapiens_hsa040200.41356035
154Salivary secretion_Homo sapiens_hsa049700.40360524
155Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39761465
156Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.38600452
157Ovarian steroidogenesis_Homo sapiens_hsa049130.37912773
158Glycerophospholipid metabolism_Homo sapiens_hsa005640.36993239
159Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.36859132
160Amphetamine addiction_Homo sapiens_hsa050310.36631679
161Purine metabolism_Homo sapiens_hsa002300.35148807
162Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.35071779
163Aldosterone synthesis and secretion_Homo sapiens_hsa049250.34608360
164African trypanosomiasis_Homo sapiens_hsa051430.34426406
165Central carbon metabolism in cancer_Homo sapiens_hsa052300.34006649
166SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33320658
167Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.31659578
168Huntingtons disease_Homo sapiens_hsa050160.31097406

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