KAZALD1

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 secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1GDP-mannose metabolic process (GO:0019673)8.50627697
2regulation of skeletal muscle contraction (GO:0014819)8.19589768
3protein carboxylation (GO:0018214)7.59368406
4peptidyl-glutamic acid carboxylation (GO:0017187)7.59368406
5negative regulation of cell aging (GO:0090344)6.61668797
6DNA strand renaturation (GO:0000733)6.60324409
7gonadal mesoderm development (GO:0007506)6.57377220
8cellular response to ATP (GO:0071318)5.99298468
9proline biosynthetic process (GO:0006561)5.91822877
10meiotic chromosome segregation (GO:0045132)5.48515303
11mitotic cell cycle arrest (GO:0071850)5.42386595
12regulation of cytokine production involved in inflammatory response (GO:1900015)5.20614387
13negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)4.98727574
14semaphorin-plexin signaling pathway (GO:0071526)4.97599179
15regulation of synapse structural plasticity (GO:0051823)4.91356136
16protein heterotrimerization (GO:0070208)4.88528283
17definitive hemopoiesis (GO:0060216)4.78753273
18type B pancreatic cell proliferation (GO:0044342)4.73319459
19nucleotide-sugar biosynthetic process (GO:0009226)4.71254503
20lens fiber cell differentiation (GO:0070306)4.57790068
21transepithelial transport (GO:0070633)4.54439540
22UV protection (GO:0009650)4.49355077
23peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)4.48564763
24adenosine receptor signaling pathway (GO:0001973)4.28835754
25proline metabolic process (GO:0006560)4.27398552
26positive regulation of male gonad development (GO:2000020)4.26051478
27regulation of male gonad development (GO:2000018)4.23005856
28dermatan sulfate biosynthetic process (GO:0030208)4.16516049
29keratan sulfate catabolic process (GO:0042340)4.15317846
30collagen fibril organization (GO:0030199)4.13653398
31dermatan sulfate metabolic process (GO:0030205)4.07649765
32sulfur amino acid catabolic process (GO:0000098)4.03119128
33collagen catabolic process (GO:0030574)4.00389460
34collagen metabolic process (GO:0032963)3.96664803
35sphingomyelin metabolic process (GO:0006684)3.88995346
36G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.88153123
37response to interferon-alpha (GO:0035455)3.87899388
38regulation of cardioblast proliferation (GO:0003264)3.86486407
39regulation of secondary heart field cardioblast proliferation (GO:0003266)3.86486407
40mannose metabolic process (GO:0006013)3.79058761
41positive regulation of protein kinase C signaling (GO:0090037)3.74763594
42sex determination (GO:0007530)3.74331943
43positive regulation of natural killer cell differentiation (GO:0032825)3.73951253
44estrogen biosynthetic process (GO:0006703)3.72168602
45phosphate ion homeostasis (GO:0055062)3.71676353
46trivalent inorganic anion homeostasis (GO:0072506)3.71676353
47regulation of macrophage cytokine production (GO:0010935)3.67384836
48rRNA methylation (GO:0031167)3.66633968
49folic acid metabolic process (GO:0046655)3.65775794
50multicellular organismal catabolic process (GO:0044243)3.65097688
51multicellular organismal macromolecule metabolic process (GO:0044259)3.64001959
52adenine nucleotide transport (GO:0051503)3.62615749
53cellular response to vitamin D (GO:0071305)3.57468060
54detection of light stimulus involved in sensory perception (GO:0050962)3.56999760
55detection of light stimulus involved in visual perception (GO:0050908)3.56999760
56regulation of cell aging (GO:0090342)3.50418789
57bone trabecula formation (GO:0060346)3.47339356
58endocytic recycling (GO:0032456)3.46447172
59multicellular organismal metabolic process (GO:0044236)3.45960323
60outer ear morphogenesis (GO:0042473)3.45806731
61respiratory tube development (GO:0030323)3.45387259
62metanephric mesenchyme development (GO:0072075)3.45065962
63purinergic nucleotide receptor signaling pathway (GO:0035590)3.43738954
64diol metabolic process (GO:0034311)3.40791836
65purine ribonucleotide transport (GO:0015868)3.38521519
66purine nucleotide transport (GO:0015865)3.38254326
67sphingosine metabolic process (GO:0006670)3.38241677
68positive regulation of heat generation (GO:0031652)3.36553893
69regulation of phospholipid biosynthetic process (GO:0071071)3.35922281
70granulocyte differentiation (GO:0030851)3.34602890
71cellular response to vitamin (GO:0071295)3.32828986
72antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.32011748
73negative regulation of interleukin-8 production (GO:0032717)3.31661149
74rRNA modification (GO:0000154)3.30378440
75positive regulation of macrophage cytokine production (GO:0060907)3.29877794
76extracellular matrix disassembly (GO:0022617)3.28533186
77phosphate ion transmembrane transport (GO:0035435)3.26806907
78regulation of mammary gland epithelial cell proliferation (GO:0033599)3.20289329
79glomerular basement membrane development (GO:0032836)3.17853537
80kidney mesenchyme development (GO:0072074)3.17625528
81negative regulation of fatty acid transport (GO:2000192)3.17032591
82negative regulation of macrophage differentiation (GO:0045650)3.16893437
83blood vessel maturation (GO:0001955)3.16419364
84endocardial cushion morphogenesis (GO:0003203)3.12385115
85atrioventricular valve morphogenesis (GO:0003181)3.11059731
86sensory perception of taste (GO:0050909)3.08843302
87barbed-end actin filament capping (GO:0051016)3.08682799
88phosphatidylglycerol biosynthetic process (GO:0006655)3.06871658
89response to ATP (GO:0033198)3.06783728
90positive regulation of odontogenesis (GO:0042482)3.04959420
91regulation of cholesterol biosynthetic process (GO:0045540)3.03995452
92protein retention in ER lumen (GO:0006621)3.03942656
93glutamine family amino acid biosynthetic process (GO:0009084)3.01412572
94dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.00937765
95maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.00123665
96fibroblast migration (GO:0010761)2.99708460
97protein insertion into membrane (GO:0051205)2.98472277
98urinary tract smooth muscle contraction (GO:0014848)2.93265184
99negative regulation of chondrocyte differentiation (GO:0032331)2.91345809
100regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.91171209
101apoptotic cell clearance (GO:0043277)2.91107374
102mesenchyme morphogenesis (GO:0072132)2.90074190
103cardiolipin metabolic process (GO:0032048)2.88484959
104cellular response to interferon-alpha (GO:0035457)2.87864323
105cellular anion homeostasis (GO:0030002)2.87283372
106DNA replication checkpoint (GO:0000076)2.85882744
107positive regulation of TOR signaling (GO:0032008)2.85471525
108positive regulation of respiratory burst (GO:0060267)2.85038691
109mesenchymal to epithelial transition (GO:0060231)2.84920456
110sequestering of extracellular ligand from receptor (GO:0035581)2.84319899
111nucleoside transmembrane transport (GO:1901642)2.83224486
112regulation of natural killer cell differentiation (GO:0032823)2.80385415
113nucleotide transmembrane transport (GO:1901679)2.80172250
114regulation of translational fidelity (GO:0006450)2.79267148
115peptidyl-glutamic acid modification (GO:0018200)2.78820414
116regulation of cholesterol metabolic process (GO:0090181)2.78248534
117embryonic skeletal joint morphogenesis (GO:0060272)2.76164619
118heart valve morphogenesis (GO:0003179)2.76091650
119mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.74653554
120negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)2.73485440
121COPI coating of Golgi vesicle (GO:0048205)2.72527105
122Golgi transport vesicle coating (GO:0048200)2.72527105
123glomerulus development (GO:0032835)2.72485944
124negative regulation of cartilage development (GO:0061037)2.71446411
125negative regulation of erythrocyte differentiation (GO:0045647)2.70692883
126basement membrane organization (GO:0071711)2.70369142
127regulation of female gonad development (GO:2000194)2.69898653
128middle ear morphogenesis (GO:0042474)2.69258156
129adrenal gland development (GO:0030325)2.68680970
130lipopolysaccharide biosynthetic process (GO:0009103)2.68363164
131cartilage condensation (GO:0001502)2.67802418
132cell aggregation (GO:0098743)2.67802418
133glycoprotein catabolic process (GO:0006516)2.67443136
134positive regulation of cellular amide metabolic process (GO:0034250)2.66208998
135negative regulation of cAMP-mediated signaling (GO:0043951)2.66155681
136regulation of cell proliferation involved in kidney development (GO:1901722)2.65229072
137positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.64601704
138regulation of heart morphogenesis (GO:2000826)2.64543454
139* extracellular matrix organization (GO:0030198)2.63911330
140urogenital system development (GO:0001655)2.63784772
141myoblast migration (GO:0051451)2.63383165
142gland morphogenesis (GO:0022612)2.63097243
143* extracellular structure organization (GO:0043062)2.62989295
144mRNA cleavage (GO:0006379)2.62044946
145sphingoid metabolic process (GO:0046519)2.61880609
146ribonucleoside bisphosphate biosynthetic process (GO:0034030)2.60317594
147nucleoside bisphosphate biosynthetic process (GO:0033866)2.60317594
148purine nucleoside bisphosphate biosynthetic process (GO:0034033)2.60317594
149male sex determination (GO:0030238)2.60082929
150peristalsis (GO:0030432)2.60032747
151positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.59259920
152ureteric bud development (GO:0001657)2.58971795
153hemidesmosome assembly (GO:0031581)2.58207739
154positive regulation of cartilage development (GO:0061036)2.57046008
155auditory receptor cell differentiation (GO:0042491)2.56254771
156negative regulation of biomineral tissue development (GO:0070168)2.54562393
157regulation of fatty acid beta-oxidation (GO:0031998)2.53854909
158mesonephric tubule development (GO:0072164)2.53002649
159cyclooxygenase pathway (GO:0019371)2.52830474
160germ cell migration (GO:0008354)2.52435179
161mesonephros development (GO:0001823)2.51841235
162response to gravity (GO:0009629)2.51669213
163glutathione biosynthetic process (GO:0006750)2.49773391
164chondrocyte proliferation (GO:0035988)2.49027035
165negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.48641690
166misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.47953176
167phosphate ion transport (GO:0006817)2.47930855
168cornea development in camera-type eye (GO:0061303)2.47240271
169mesonephric epithelium development (GO:0072163)2.46782872
170smooth muscle tissue development (GO:0048745)2.42694008
171muscle fiber development (GO:0048747)2.42494904
172renal absorption (GO:0070293)2.41413543
173folic acid transport (GO:0015884)2.39869279
174regulation of gonadotropin secretion (GO:0032276)2.38969949
175G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.38260751
176histone phosphorylation (GO:0016572)2.37714249
177peptidyl-proline hydroxylation (GO:0019511)2.37338756
178planar cell polarity pathway involved in neural tube closure (GO:0090179)2.36971877
179bone development (GO:0060348)2.36737471
180melanin biosynthetic process (GO:0042438)2.36461774
181negative regulation of leukocyte chemotaxis (GO:0002689)2.35292711
182cell adhesion mediated by integrin (GO:0033627)2.34867074
183purinergic receptor signaling pathway (GO:0035587)2.34825826
184face morphogenesis (GO:0060325)2.34419154
185DNA duplex unwinding (GO:0032508)2.34404565
186regulation of cholesterol homeostasis (GO:2000188)2.32985014
187regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.32701746
188regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.32051317
189mesenchymal cell development (GO:0014031)2.32004742
190endodermal cell differentiation (GO:0035987)2.31718582
191negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.31125850
192lipopolysaccharide metabolic process (GO:0008653)2.31079057
193regulation of organ formation (GO:0003156)2.30755851
194regulation of cartilage development (GO:0061035)2.27761790

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.45987461
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.39448612
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.77904940
4VDR_21846776_ChIP-Seq_THP-1_Human3.56890045
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.37990379
6* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse3.11956314
7ESR1_21235772_ChIP-Seq_MCF-7_Human2.79877031
8CLOCK_20551151_ChIP-Seq_293T_Human2.77018380
9XRN2_22483619_ChIP-Seq_HELA_Human2.68058375
10DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.56628517
11ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.54840380
12* P68_20966046_ChIP-Seq_HELA_Human2.52767699
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.48256168
14TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.40602388
15PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.22049028
16IKZF1_21737484_ChIP-ChIP_HCT116_Human2.19027439
17ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.14084323
18IRF8_22096565_ChIP-ChIP_GC-B_Human2.10664668
19ERG_21242973_ChIP-ChIP_JURKAT_Human2.08813934
20GATA1_22025678_ChIP-Seq_K562_Human2.08646861
21STAT6_21828071_ChIP-Seq_BEAS2B_Human2.08411601
22CJUN_26792858_Chip-Seq_BT549_Human2.03467961
23TET1_21451524_ChIP-Seq_MESCs_Mouse2.03354164
24* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.97868278
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.97037963
26* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.86841112
27RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.86624185
28CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.84060719
29* E2F1_20622854_ChIP-Seq_HELA_Human1.83277343
30* MAF_26560356_Chip-Seq_TH2_Human1.83145656
31MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.82707382
32STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.81986505
33BCOR_27268052_Chip-Seq_Bcells_Human1.81966646
34* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.80448145
35* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.78661260
36CTCF_27219007_Chip-Seq_Bcells_Human1.77700069
37FOXM1_23109430_ChIP-Seq_U2OS_Human1.77131712
38DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.76858181
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.75806437
40* FOXP1_21924763_ChIP-Seq_HESCs_Human1.71389640
41RARB_24833708_ChIP-Seq_LIVER_Mouse1.70952487
42* BCL6_27268052_Chip-Seq_Bcells_Human1.66770227
43MYC_22102868_ChIP-Seq_BL_Human1.66632844
44THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.65796860
45PHF8_20622854_ChIP-Seq_HELA_Human1.65730510
46JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.64445147
47SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.64346408
48ZNF263_19887448_ChIP-Seq_K562_Human1.64097360
49HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.63801467
50GATA2_21666600_ChIP-Seq_HMVEC_Human1.63364743
51RARA_24833708_ChIP-Seq_LIVER_Mouse1.62931695
52CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.62343932
53FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.61910722
54TP53_22127205_ChIP-Seq_IMR90_Human1.61239805
55* SMC4_20622854_ChIP-Seq_HELA_Human1.60836797
56SA1_27219007_Chip-Seq_ERYTHROID_Human1.60741788
57* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.59754783
58TP53_20018659_ChIP-ChIP_R1E_Mouse1.59576611
59SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.58518854
60EP300_21415370_ChIP-Seq_HL-1_Mouse1.57881315
61* CTCF_21964334_Chip-Seq_Bcells_Human1.57582306
62SOX2_20726797_ChIP-Seq_SW620_Human1.56820152
63WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.55999604
64RXRA_24833708_ChIP-Seq_LIVER_Mouse1.55819887
65SRY_22984422_ChIP-ChIP_TESTIS_Rat1.55078414
66ZNF217_24962896_ChIP-Seq_MCF-7_Human1.53793486
67* CREB1_26743006_Chip-Seq_LNCaP_Human1.53254461
68* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.52077802
69* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.52077802
70* ATF3_27146783_Chip-Seq_COLON_Human1.51794017
71SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.49545251
72MAF_26560356_Chip-Seq_TH1_Human1.48914969
73PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.48315200
74* KDM2B_26808549_Chip-Seq_DND41_Human1.45830473
75ELF1_20517297_ChIP-Seq_JURKAT_Human1.44282593
76CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.43894146
77SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.43061061
78NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.42578335
79NRF2_20460467_ChIP-Seq_MEFs_Mouse1.42578335
80* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.40940080
81* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.40168069
82RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.40016416
83* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.38730343
84BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.37997466
85CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37738014
86* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.37384227
87KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.35075242
88KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.35075242
89KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.35075242
90YY1_22570637_ChIP-Seq_MALME-3M_Human1.33612345
91CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.33563950
92NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.32187904
93CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.32153096
94WT1_19549856_ChIP-ChIP_CCG9911_Human1.31979197
95SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.30991355
96SOX9_24532713_ChIP-Seq_HFSC_Mouse1.30804011
97* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.30597833
98MYC_18358816_ChIP-ChIP_MESCs_Mouse1.30558478
99BP1_19119308_ChIP-ChIP_Hs578T_Human1.30549420
100BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.30451644
101* CTCF_20526341_ChIP-Seq_ESCs_Human1.28847490
102* SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27194982
103SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.26721148
104* GABP_19822575_ChIP-Seq_HepG2_Human1.25603656
105PPARA_22158963_ChIP-Seq_LIVER_Mouse1.24544928
106* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.23643757
107EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.23515523
108IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.22475204
109DCP1A_22483619_ChIP-Seq_HELA_Human1.22314760
110* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.22209353
111HIF1A_21447827_ChIP-Seq_MCF-7_Human1.22131971
112SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.22011206
113SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.22011206
114NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.21657060
115P63_26484246_Chip-Seq_KERATINOCYTES_Human1.21606782
116ETS1_21867929_ChIP-Seq_TH2_Mouse1.18676381
117KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.18401794
118TP63_19390658_ChIP-ChIP_HaCaT_Human1.18149813
119CTCF_26484167_Chip-Seq_Bcells_Mouse1.18137890
120THAP11_20581084_ChIP-Seq_MESCs_Mouse1.17552779
121UTX_26944678_Chip-Seq_JUKART_Human1.17439271
122* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.17389645
123* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.16880169
124SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.16693955
125* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.16462576
126* RNF2_27304074_Chip-Seq_ESCs_Mouse1.15914951
127SMC3_22415368_ChIP-Seq_MEFs_Mouse1.13555096
128DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13424921
129FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.13073269
130TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12208426
131SA1_27219007_Chip-Seq_Bcells_Human1.12058356
132CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.11346529
133JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.10404889
134* FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09830161
135* EED_16625203_ChIP-ChIP_MESCs_Mouse1.09671698
136KDM2B_26808549_Chip-Seq_K562_Human1.09550430
137PKCTHETA_26484144_Chip-Seq_BREAST_Human1.09300314
138* RACK7_27058665_Chip-Seq_MCF-7_Human1.08501031
139FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.08302562
140CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.08219398
141TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.07385549
142* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07096665
143* ELK3_25401928_ChIP-Seq_HUVEC_Human1.06639182
144CIITA_25753668_ChIP-Seq_RAJI_Human1.05527978
145PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.04936628
146* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.04935461
147PU.1_20513432_ChIP-Seq_Bcells_Mouse1.04404055
148* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.03555137
149LXR_22292898_ChIP-Seq_THP-1_Human1.02800758
150SALL4_18804426_ChIP-ChIP_XEN_Mouse1.02795320
151KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.01763174
152* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.01081073
153* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.00854339
154TP53_18474530_ChIP-ChIP_U2OS_Human1.00414627
155JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00291956
156SMAD_19615063_ChIP-ChIP_OVARY_Human0.98968113
157SCL_19346495_ChIP-Seq_HPC-7_Human0.97396144
158JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96170379
159* UBF1/2_26484160_Chip-Seq_HMECs_Human0.95729011
160RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.95713678
161* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.94803571
162* EZH2_27294783_Chip-Seq_ESCs_Mouse0.94796398
163* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.94009158
164VDR_24763502_ChIP-Seq_THP-1_Human0.92087624
165PPAR_26484153_Chip-Seq_NCI-H1993_Human0.91121899
166Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.90906321
167NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.90833498
168STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.89749090
169LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.89274176
170* RUNX1_27514584_Chip-Seq_MCF-7_Human0.88985634
171TP53_16413492_ChIP-PET_HCT116_Human0.88850286
172KLF5_25053715_ChIP-Seq_YYC3_Human0.88617336
173MYB_21317192_ChIP-Seq_ERMYB_Mouse0.88399926
174BRD4_25478319_ChIP-Seq_HGPS_Human0.88217541
175* TCF7_22412390_ChIP-Seq_EML_Mouse0.88048564
176* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.87167522
177SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.86941470
178FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86606281
179HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.86555009
180RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.85758792
181* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.85690756

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation5.88332478
2MP0005503_abnormal_tendon_morphology5.37816144
3MP0008438_abnormal_cutaneous_collagen5.00832231
4MP0005083_abnormal_biliary_tract4.41467268
5MP0001986_abnormal_taste_sensitivity4.12379964
6MP0005275_abnormal_skin_tensile3.95767424
7MP0005174_abnormal_tail_pigmentation3.64392321
8MP0005423_abnormal_somatic_nervous3.37184451
9MP0003136_yellow_coat_color3.09463021
10MP0003879_abnormal_hair_cell3.03586086
11MP0002877_abnormal_melanocyte_morpholog3.01194825
12MP0001661_extended_life_span2.94331418
13MP0001958_emphysema2.81477186
14MP0005508_abnormal_skeleton_morphology2.55610688
15MP0005409_darkened_coat_color2.55400052
16MP0008875_abnormal_xenobiotic_pharmacok2.53487375
17MP0004272_abnormal_basement_membrane2.52738302
18MP0000750_abnormal_muscle_regeneration2.49113427
19MP0002254_reproductive_system_inflammat2.47749328
20MP0005330_cardiomyopathy2.38441670
21MP0003941_abnormal_skin_development2.37902966
22MP0003878_abnormal_ear_physiology2.35168202
23MP0005377_hearing/vestibular/ear_phenot2.35168202
24MP0001346_abnormal_lacrimal_gland2.31779468
25MP0003279_aneurysm2.23807482
26MP0001542_abnormal_bone_strength2.17489490
27MP0005501_abnormal_skin_physiology2.09705693
28MP0002009_preneoplasia2.08717926
29MP0009384_cardiac_valve_regurgitation2.05194181
30MP0001756_abnormal_urination2.00073654
31MP0002160_abnormal_reproductive_system1.96070787
32MP0000516_abnormal_urinary_system1.95992784
33MP0005367_renal/urinary_system_phenotyp1.95992784
34MP0005058_abnormal_lysosome_morphology1.95986078
35MP0000013_abnormal_adipose_tissue1.91427936
36MP0002060_abnormal_skin_morphology1.88353413
37MP0006054_spinal_hemorrhage1.85808363
38MP0003453_abnormal_keratinocyte_physiol1.84228567
39MP0005390_skeleton_phenotype1.79171819
40MP0003724_increased_susceptibility_to1.76618054
41MP0000003_abnormal_adipose_tissue1.76156065
42MP0000534_abnormal_ureter_morphology1.74604643
43MP0001188_hyperpigmentation1.74157943
44MP0000613_abnormal_salivary_gland1.67743044
45MP0009379_abnormal_foot_pigmentation1.63931037
46MP0005076_abnormal_cell_differentiation1.63171985
47MP0000747_muscle_weakness1.62180939
48MP0003705_abnormal_hypodermis_morpholog1.59294359
49MP0009278_abnormal_bone_marrow1.55509985
50MP0000163_abnormal_cartilage_morphology1.54246690
51MP0003111_abnormal_nucleus_morphology1.48814152
52MP0004510_myositis1.47854027
53MP0003942_abnormal_urinary_system1.47701140
54MP0001533_abnormal_skeleton_physiology1.45863146
55MP0002896_abnormal_bone_mineralization1.45608053
56MP0010030_abnormal_orbit_morphology1.44663053
57MP0002108_abnormal_muscle_morphology1.44558758
58MP0000681_abnormal_thyroid_gland1.43258469
59MP0002998_abnormal_bone_remodeling1.43131110
60MP0000538_abnormal_urinary_bladder1.41391656
61MP0000049_abnormal_middle_ear1.40721374
62MP0002115_abnormal_skeleton_extremities1.39946982
63MP0001502_abnormal_circadian_rhythm1.38228059
64MP0000685_abnormal_immune_system1.37483051
65MP0009250_abnormal_appendicular_skeleto1.34409751
66MP0009840_abnormal_foam_cell1.33920162
67MP0004233_abnormal_muscle_weight1.29428194
68MP0002249_abnormal_larynx_morphology1.27398326
69MP0005023_abnormal_wound_healing1.26409036
70MP0005332_abnormal_amino_acid1.25847580
71MP0000762_abnormal_tongue_morphology1.21794980
72MP0004185_abnormal_adipocyte_glucose1.19666666
73MP0004130_abnormal_muscle_cell1.19666184
74MP0001919_abnormal_reproductive_system1.17553036
75MP0002932_abnormal_joint_morphology1.15897010
76MP0005410_abnormal_fertilization1.15637107
77MP0002933_joint_inflammation1.14414847
78MP0000015_abnormal_ear_pigmentation1.14300649
79MP0010234_abnormal_vibrissa_follicle1.14088450
80MP0003795_abnormal_bone_structure1.13196789
81MP0001270_distended_abdomen1.11923773
82MP0000767_abnormal_smooth_muscle1.10912667
83MP0000372_irregular_coat_pigmentation1.09976673
84MP0001348_abnormal_lacrimal_gland1.09856291
85MP0003077_abnormal_cell_cycle1.09783209
86MP0005623_abnormal_meninges_morphology1.09461696
87MP0005248_abnormal_Harderian_gland1.09458575
88MP0002796_impaired_skin_barrier1.07429218
89MP0001664_abnormal_digestion1.05635957
90MP0001243_abnormal_dermal_layer1.05512489
91MP0008995_early_reproductive_senescence1.05453195
92MP0000751_myopathy1.04920124
93MP0004087_abnormal_muscle_fiber1.04460082
94MP0009780_abnormal_chondrocyte_physiolo1.04122900
95MP0002113_abnormal_skeleton_development1.03670207
96MP0002295_abnormal_pulmonary_circulatio1.02562373
97MP0001963_abnormal_hearing_physiology1.00443517
98MP0000759_abnormal_skeletal_muscle0.99139680
99MP0004957_abnormal_blastocyst_morpholog0.98800187
100MP0010368_abnormal_lymphatic_system0.98073446
101MP0003566_abnormal_cell_adhesion0.97786158
102MP0001968_abnormal_touch/_nociception0.97581691
103MP0005397_hematopoietic_system_phenotyp0.96940746
104MP0001545_abnormal_hematopoietic_system0.96940746
105MP0003385_abnormal_body_wall0.96918187
106MP0000026_abnormal_inner_ear0.96887999
107MP0003693_abnormal_embryo_hatching0.94407391
108MP0010771_integument_phenotype0.92365019
109MP0000566_synostosis0.90119898
110MP0003828_pulmonary_edema0.89779173
111MP0000470_abnormal_stomach_morphology0.89338716
112MP0003943_abnormal_hepatobiliary_system0.89146449
113MP0002148_abnormal_hypersensitivity_rea0.88991995
114MP0004019_abnormal_vitamin_homeostasis0.88426821
115MP0002098_abnormal_vibrissa_morphology0.87821810
116MP0009931_abnormal_skin_appearance0.87690591
117MP0001765_abnormal_ion_homeostasis0.87104413
118MP0004808_abnormal_hematopoietic_stem0.86867843
119MP0003806_abnormal_nucleotide_metabolis0.86479132
120MP0005365_abnormal_bile_salt0.86467851
121MP0002233_abnormal_nose_morphology0.85125920
122MP0002109_abnormal_limb_morphology0.84200165
123MP0000678_abnormal_parathyroid_gland0.83661092
124MP0000733_abnormal_muscle_development0.83477564
125MP0005164_abnormal_response_to0.83462980
126MP0004381_abnormal_hair_follicle0.83405480
127MP0000367_abnormal_coat/_hair0.83373092
128MP0004134_abnormal_chest_morphology0.82879942
129MP0004858_abnormal_nervous_system0.82851082
130MP0001873_stomach_inflammation0.81888916
131MP0001851_eye_inflammation0.80868814
132MP0000428_abnormal_craniofacial_morphol0.79129778
133MP0002166_altered_tumor_susceptibility0.79103003
134MP0005375_adipose_tissue_phenotype0.78557433
135MP0005408_hypopigmentation0.77015973
136MP0005360_urolithiasis0.76094135
137MP0004883_abnormal_blood_vessel0.75896608
138MP0005389_reproductive_system_phenotype0.74338622
139MP0002282_abnormal_trachea_morphology0.74302998
140MP0000749_muscle_degeneration0.73110881
141MP0009643_abnormal_urine_homeostasis0.73049876
142MP0003115_abnormal_respiratory_system0.72016533
143MP0000467_abnormal_esophagus_morphology0.71977697
144MP0001849_ear_inflammation0.70241747
145MP0002736_abnormal_nociception_after0.69853765
146MP0009053_abnormal_anal_canal0.69495965
147MP0005257_abnormal_intraocular_pressure0.69175394
148MP0000377_abnormal_hair_follicle0.67999641
149MP0003091_abnormal_cell_migration0.67903198
150MP0004197_abnormal_fetal_growth/weight/0.67753900
151MP0001835_abnormal_antigen_presentation0.67567805
152MP0000358_abnormal_cell_content/0.67210592
153MP0003567_abnormal_fetal_cardiomyocyte0.66998897
154MP0002168_other_aberrant_phenotype0.65918845
155MP0002938_white_spotting0.65780582
156MP0005464_abnormal_platelet_physiology0.64991181
157MP0005584_abnormal_enzyme/coenzyme_acti0.64975749
158MP0002177_abnormal_outer_ear0.64894826
159MP0002116_abnormal_craniofacial_bone0.63968998
160MP0002006_tumorigenesis0.63371341
161MP0003195_calcinosis0.63260380
162MP0002128_abnormal_blood_circulation0.62316769
163MP0006138_congestive_heart_failure0.61782356
164MP0003137_abnormal_impulse_conducting0.58003901
165MP0005451_abnormal_body_composition0.56613611
166MP0001216_abnormal_epidermal_layer0.56556937
167MP0001324_abnormal_eye_pigmentation0.56412382
168MP0004264_abnormal_extraembryonic_tissu0.56110902
169MP0002638_abnormal_pupillary_reflex0.54384800
170MP0002075_abnormal_coat/hair_pigmentati0.52640133
171MP0008770_decreased_survivor_rate0.52273779

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)7.01129941
2Testicular atrophy (HP:0000029)6.67549429
3Rib fusion (HP:0000902)5.85106685
4Thin bony cortex (HP:0002753)5.28651137
5Popliteal pterygium (HP:0009756)4.73537217
6Premature rupture of membranes (HP:0001788)4.67715055
7Dyschromatopsia (HP:0007641)4.65832987
8Ulnar bowing (HP:0003031)4.60153252
9Mesangial abnormality (HP:0001966)4.59711165
10Abnormality of the intrinsic pathway (HP:0010989)4.53900586
11Akinesia (HP:0002304)4.30981728
12Hemorrhage of the eye (HP:0011885)4.19825927
13Poikiloderma (HP:0001029)4.19203568
14Epiphyseal dysplasia (HP:0002656)4.17102902
15Facial hemangioma (HP:0000329)4.12717526
16Aplasia of the musculature (HP:0100854)4.09844797
17Ankle contracture (HP:0006466)4.07149861
18Rectal fistula (HP:0100590)3.76298399
19Rectovaginal fistula (HP:0000143)3.76298399
20Attenuation of retinal blood vessels (HP:0007843)3.72575336
21Neonatal short-limb short stature (HP:0008921)3.71865919
22Vaginal fistula (HP:0004320)3.71595410
23Prolonged partial thromboplastin time (HP:0003645)3.71465959
24Vertebral compression fractures (HP:0002953)3.70626815
25Facial diplegia (HP:0001349)3.69852880
26Increased hepatocellular lipid droplets (HP:0006565)3.64580674
27Joint hemorrhage (HP:0005261)3.62859650
28Biconcave vertebral bodies (HP:0004586)3.62200581
29Broad metatarsal (HP:0001783)3.62077452
30Intestinal fistula (HP:0100819)3.58414562
31Atrophic scars (HP:0001075)3.57744594
32Fetal akinesia sequence (HP:0001989)3.57078912
33Turricephaly (HP:0000262)3.56768040
34Wormian bones (HP:0002645)3.51853074
35Delayed epiphyseal ossification (HP:0002663)3.48757156
36Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.48554279
37Renal Fanconi syndrome (HP:0001994)3.46831704
38Cervical subluxation (HP:0003308)3.46575460
39Coronal craniosynostosis (HP:0004440)3.42699469
40Lipid accumulation in hepatocytes (HP:0006561)3.40179573
41Abnormality of placental membranes (HP:0011409)3.36045031
42Amniotic constriction ring (HP:0009775)3.36045031
43Annular pancreas (HP:0001734)3.27237343
44Spondylolisthesis (HP:0003302)3.24582619
45Vascular tortuosity (HP:0004948)3.12800594
46Fragile skin (HP:0001030)3.11431977
47Mild short stature (HP:0003502)3.03511953
48Aortic dissection (HP:0002647)3.02495100
49Choroideremia (HP:0001139)2.96416114
50Squamous cell carcinoma (HP:0002860)2.95648526
51Pulmonary artery stenosis (HP:0004415)2.93498903
52Myopathic facies (HP:0002058)2.93172343
53Soft skin (HP:0000977)2.93135162
54Atrioventricular block (HP:0001678)2.92667433
55Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.88184233
56Joint stiffness (HP:0001387)2.87531322
57Abnormality of dentin (HP:0010299)2.85885002
58Bladder diverticulum (HP:0000015)2.84426569
59Osteolytic defects of the hand bones (HP:0009699)2.81931230
60Osteolytic defects of the phalanges of the hand (HP:0009771)2.81931230
61Blue sclerae (HP:0000592)2.79938522
62Increased intramyocellular lipid droplets (HP:0012240)2.78745991
63Thin ribs (HP:0000883)2.77329785
64Myotonia (HP:0002486)2.75932405
65Neonatal respiratory distress (HP:0002643)2.75870814
66Pterygium (HP:0001059)2.75303166
67Abnormality of the costochondral junction (HP:0000919)2.73314916
68Morphological abnormality of the middle ear (HP:0008609)2.73301934
69Arterial tortuosity (HP:0005116)2.73241750
70Hypophosphatemic rickets (HP:0004912)2.72210176
71Increased muscle lipid content (HP:0009058)2.69568215
72Mixed hearing impairment (HP:0000410)2.69289762
73Aortic aneurysm (HP:0004942)2.66967761
74Synostosis involving the elbow (HP:0003938)2.63292617
75Humeroradial synostosis (HP:0003041)2.63292617
76Osteoarthritis (HP:0002758)2.62985068
77Decreased electroretinogram (ERG) amplitude (HP:0000654)2.59235462
78Anteriorly placed anus (HP:0001545)2.55935165
79Gonadal dysgenesis (HP:0000133)2.54807538
80Patellar aplasia (HP:0006443)2.54568924
81Abnormal albumin level (HP:0012116)2.53910812
82Hypoalbuminemia (HP:0003073)2.53910812
83Capillary hemangiomas (HP:0005306)2.52754739
84Lip pit (HP:0100267)2.52068246
85Neonatal onset (HP:0003623)2.51516551
86Hypoplastic ischia (HP:0003175)2.48304331
87Abnormality of the ischium (HP:0003174)2.48052927
88Zonular cataract (HP:0010920)2.47435192
89Stridor (HP:0010307)2.47254123
90Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.46828173
91Bowing of the arm (HP:0006488)2.46556103
92Bowed forearm bones (HP:0003956)2.46556103
93Aplasia/Hypoplasia of the patella (HP:0006498)2.46170289
94Malignant hyperthermia (HP:0002047)2.41737928
95Type 1 muscle fiber predominance (HP:0003803)2.40128484
96Distal arthrogryposis (HP:0005684)2.38459401
97Abnormality of the common coagulation pathway (HP:0010990)2.37754156
98Bell-shaped thorax (HP:0001591)2.36422746
99Platyspondyly (HP:0000926)2.35169121
100Abnormal urine phosphate concentration (HP:0012599)2.34809176
101Widely patent fontanelles and sutures (HP:0004492)2.31940059
102Wrist flexion contracture (HP:0001239)2.31597443
103Bony spicule pigmentary retinopathy (HP:0007737)2.30404272
104Decreased skull ossification (HP:0004331)2.30093446
105Abnormal epiphyseal ossification (HP:0010656)2.29984039
106Growth hormone excess (HP:0000845)2.28753828
107Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.26391156
108Emphysema (HP:0002097)2.24655131
109Decreased central vision (HP:0007663)2.20409091
110Rectal prolapse (HP:0002035)2.20296015
111Shallow orbits (HP:0000586)2.19334392
112Short chin (HP:0000331)2.19222731
113Spinal rigidity (HP:0003306)2.18205717
114Congenital, generalized hypertrichosis (HP:0004540)2.17437670
115Severe Myopia (HP:0011003)2.16813074
116Chorioretinal atrophy (HP:0000533)2.14909152
117Diminished movement (HP:0002374)2.12820786
118Aplasia/Hypoplasia involving the musculature (HP:0001460)2.12457295
119Vitreoretinal degeneration (HP:0000655)2.12403672
120Abnormality of the distal phalanges of the toes (HP:0010182)2.11337207
121Femoral bowing (HP:0002980)2.10925800
122Follicular hyperkeratosis (HP:0007502)2.10100394
123Flattened epiphyses (HP:0003071)2.09410864
124Exertional dyspnea (HP:0002875)2.07546508
125Abnormality of skull ossification (HP:0002703)2.06951058
126Ulnar deviation of the wrist (HP:0003049)2.06773288
127Mitral regurgitation (HP:0001653)2.06378353
128Abnormal atrioventricular conduction (HP:0005150)2.02806461
129Respiratory difficulties (HP:0002880)2.01725333
130Epiphyseal stippling (HP:0010655)2.01305106
131Peritonitis (HP:0002586)2.00969310
132Absent frontal sinuses (HP:0002688)1.98889594
133Choanal stenosis (HP:0000452)1.98658619
134Dilatation of the ascending aorta (HP:0005111)1.97670863
135Increased number of teeth (HP:0011069)1.96015865
136Enlarged epiphyses (HP:0010580)1.95983376
137Abnormality of the acetabulum (HP:0003170)1.95774603
138Increased connective tissue (HP:0009025)1.94806596
139Congenital stationary night blindness (HP:0007642)1.90387381
140Elbow flexion contracture (HP:0002987)1.89999587
141Hypothermia (HP:0002045)1.89722784
142Cholelithiasis (HP:0001081)1.89610045
143Beaking of vertebral bodies (HP:0004568)1.89244497
144Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.88398801
145Abnormality of the phalanges of the 2nd finger (HP:0009541)1.88310547
146Heart block (HP:0012722)1.87924402
147Wide cranial sutures (HP:0010537)1.87697347
148Joint laxity (HP:0001388)1.87525407
149Alopecia of scalp (HP:0002293)1.86103894
150Abnormal delivery (HP:0001787)1.85760464
151Sprengel anomaly (HP:0000912)1.85682200
152Abnormality of mucopolysaccharide metabolism (HP:0011020)1.83972063
153Abnormality of polysaccharide metabolism (HP:0011012)1.83972063
154Abnormality of glycosaminoglycan metabolism (HP:0004371)1.83972063
155Mucopolysacchariduria (HP:0008155)1.83754082
156Urinary glycosaminoglycan excretion (HP:0003541)1.83754082
157Delayed cranial suture closure (HP:0000270)1.83577158
158Right ventricular cardiomyopathy (HP:0011663)1.83380313
159Testicular neoplasm (HP:0010788)1.82302966
160Protruding ear (HP:0000411)1.81984696
161Synostosis involving bones of the feet (HP:0009140)1.81034917
162Synostosis involving bones of the lower limbs (HP:0009138)1.81034917
163Bradycardia (HP:0001662)1.79891572
164Premature graying of hair (HP:0002216)1.79648115
165Tarsal synostosis (HP:0008368)1.79209891
166Sex reversal (HP:0012245)1.79021465
167Abnormal sex determination (HP:0012244)1.79021465
168Enlarged penis (HP:0000040)1.78880464
169Renal tubular dysfunction (HP:0000124)1.78147180
170Slender long bone (HP:0003100)1.78092716
171Flat capital femoral epiphysis (HP:0003370)1.77854637
172Long clavicles (HP:0000890)1.77422492
173Hydroxyprolinuria (HP:0003080)1.77411930
174Abnormality of proline metabolism (HP:0010907)1.77411930
175Absent thumb (HP:0009777)1.75758808
176Abnormality of renal resorption (HP:0011038)1.75509828
177Craniofacial hyperostosis (HP:0004493)1.75317178
178Flat occiput (HP:0005469)1.75167747
179Hyperextensible skin (HP:0000974)1.75130741
180Coxa vara (HP:0002812)1.72768352
181Cerebral aneurysm (HP:0004944)1.72448536
182Abnormalities of placenta or umbilical cord (HP:0001194)1.72180071
183Male infertility (HP:0003251)1.71269730
184Synostosis of carpal bones (HP:0005048)1.70563948
185Breast hypoplasia (HP:0003187)1.70390797
186Abnormality of molar morphology (HP:0011070)1.69267745
187Abnormality of molar (HP:0011077)1.69267745
188Unilateral renal agenesis (HP:0000122)1.68523959
189Delayed closure of the anterior fontanelle (HP:0001476)1.68107309
190Round ear (HP:0100830)1.68033319
191Generalized amyotrophy (HP:0003700)1.67670810
192Bruising susceptibility (HP:0000978)1.66387877
193Aortic valve stenosis (HP:0001650)1.63029209
194Abnormality of the 2nd finger (HP:0004100)1.62649166
195Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.61954838
196Mitral valve prolapse (HP:0001634)1.61356342

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR26.03546873
2WNK43.66710907
3TRIB33.45333371
4TRPM72.82740980
5RIPK42.76204306
6EPHA22.75266760
7ERN12.73762504
8TESK22.68120666
9ERBB32.67042246
10TLK12.65749109
11INSRR2.63335918
12TGFBR22.51179836
13PKN22.50145063
14PDK22.45712013
15EPHA32.41517558
16ICK2.37520454
17MAPK152.13869053
18RIPK11.97782274
19BMPR21.94520024
20PIM21.85883562
21MAP3K141.78705555
22SMG11.67632501
23TGFBR11.62725630
24PDGFRA1.62074533
25EEF2K1.57199511
26NME21.55320533
27STK161.47393967
28EPHB21.40857738
29DAPK21.40063827
30MAP3K121.39130479
31PDPK11.38882743
32FLT31.38783769
33CDK81.35827167
34PTK61.34523465
35MYLK1.33792457
36MAP2K21.33434731
37CCNB11.26652909
38TTN1.26491086
39FGFR41.24083328
40NEK91.17743681
41IKBKB1.15938275
42RPS6KB21.12255192
43ILK1.10872169
44BLK1.10527946
45TBK11.09415966
46IKBKE1.08793624
47LRRK21.07113944
48PINK11.02293856
49AURKA1.00990225
50IRAK30.97390800
51SIK10.94487709
52MAP3K70.93877679
53JAK30.93613812
54PAK40.93485608
55FRK0.92911668
56MTOR0.92587526
57MUSK0.92549613
58ZAK0.90793810
59PAK10.87529894
60BTK0.82124065
61CHUK0.81820697
62CDK150.81378303
63NEK20.81338710
64CDK90.80446285
65GRK60.80253661
66MAPK110.80239195
67FER0.80105124
68CDK60.79819604
69STK390.79806871
70TIE10.78339783
71MAP3K30.76147527
72CDK11A0.76091536
73NTRK10.75414349
74WNK10.75362824
75CDK190.74015241
76MAP2K30.73931194
77RPS6KC10.73725231
78RPS6KL10.73725231
79CDK180.73628472
80LIMK10.72517222
81RPS6KA60.71883026
82HIPK20.70958691
83MAP3K20.70263761
84IRAK20.69879856
85BMX0.69859823
86ADRBK10.69337259
87EPHB10.67428833
88BUB10.66712636
89MAP2K60.65261011
90YES10.63847581
91PRKCH0.63238626
92CDK40.63171147
93LATS10.62726523
94RPS6KA20.62437821
95ARAF0.62274397
96MST1R0.61683513
97PAK30.61484810
98MATK0.61102792
99TESK10.61077082
100PTK20.60549870
101PRKD20.60261678
102PIK3CA0.60202921
103AKT20.59721399
104RPS6KA40.59197388
105NEK60.58002045
106VRK20.58000893
107DYRK1B0.57797203
108MAP3K130.56443476
109CHEK20.55209598
110RET0.53280400
111MELK0.53122724
112PRKCI0.52306624
113CDK140.52069228
114MAPKAPK20.50861199
115SIK20.50732276
116MAP2K70.50436097
117CAMKK20.50322545
118PRKCE0.47926669
119MAPK120.47841600
120PAK20.47290580
121PRKD30.45285346
122MAP2K10.45161999
123PIM10.44097743
124MAPK70.43957694
125MAP3K10.43848580
126BCKDK0.42887131
127CDK120.41420759
128MAP3K110.41382104
129MET0.41145681
130KIT0.41120070
131DAPK30.40679933
132PDGFRB0.40254608
133CSK0.39407027
134ABL20.39240083
135ZAP700.39016982
136AURKB0.38494680
137PDK10.38189813
138JAK20.37883248
139SCYL20.37624819
140RPS6KA50.37503850
141PRKD10.37095102
142EIF2AK10.36285875
143PHKG10.36219548
144PHKG20.36219548
145PLK10.35756339
146TYRO30.35633317
147MAPKAPK50.34780663
148MAPKAPK30.34409377
149CDK70.33481695
150JAK10.33477772
151LATS20.32155358
152PBK0.32049903
153MAP4K10.31902343
154MAPK30.31897927
155FGFR30.31781734
156ATR0.30879252

Predicted pathways (KEGG)

RankGene SetZ-score
1Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001306.66391415
2Sulfur relay system_Homo sapiens_hsa041224.97967082
3ECM-receptor interaction_Homo sapiens_hsa045123.40952456
4Fructose and mannose metabolism_Homo sapiens_hsa000513.15560100
5Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.92999196
6Protein digestion and absorption_Homo sapiens_hsa049742.29646957
7Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.27178152
8Protein export_Homo sapiens_hsa030602.14183922
9Focal adhesion_Homo sapiens_hsa045102.09353564
10Sphingolipid metabolism_Homo sapiens_hsa006001.99992598
112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.93506894
12TGF-beta signaling pathway_Homo sapiens_hsa043501.91207208
13AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.89667710
14Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.80455993
15Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.77693870
16Amoebiasis_Homo sapiens_hsa051461.75399418
17Cyanoamino acid metabolism_Homo sapiens_hsa004601.72678505
18Leishmaniasis_Homo sapiens_hsa051401.68708981
19TNF signaling pathway_Homo sapiens_hsa046681.68451570
20Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.64833001
21Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.60756434
22Toxoplasmosis_Homo sapiens_hsa051451.59363237
23SNARE interactions in vesicular transport_Homo sapiens_hsa041301.53100212
24Basal cell carcinoma_Homo sapiens_hsa052171.51425997
25Malaria_Homo sapiens_hsa051441.50660982
26Biosynthesis of amino acids_Homo sapiens_hsa012301.49780787
27Osteoclast differentiation_Homo sapiens_hsa043801.48444935
28Proteoglycans in cancer_Homo sapiens_hsa052051.48216202
29Hippo signaling pathway_Homo sapiens_hsa043901.41576248
30Rheumatoid arthritis_Homo sapiens_hsa053231.40529607
31Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.37058860
32Vitamin digestion and absorption_Homo sapiens_hsa049771.33549716
33Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.32977337
34Platelet activation_Homo sapiens_hsa046111.31702643
35Toll-like receptor signaling pathway_Homo sapiens_hsa046201.29661787
36Chronic myeloid leukemia_Homo sapiens_hsa052201.27581529
37Small cell lung cancer_Homo sapiens_hsa052221.25648978
38Bladder cancer_Homo sapiens_hsa052191.25411246
39Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.22706549
40Apoptosis_Homo sapiens_hsa042101.22637212
41Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.17986891
42Arginine biosynthesis_Homo sapiens_hsa002201.17327223
43Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.15614717
44Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.14516204
45Pyruvate metabolism_Homo sapiens_hsa006201.13377968
46Chemical carcinogenesis_Homo sapiens_hsa052041.13204941
47Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.11431165
48Glycosaminoglycan degradation_Homo sapiens_hsa005311.11005045
49Galactose metabolism_Homo sapiens_hsa000521.09569477
50Pertussis_Homo sapiens_hsa051331.08946651
51Transcriptional misregulation in cancer_Homo sapiens_hsa052021.07603218
52PI3K-Akt signaling pathway_Homo sapiens_hsa041511.06764614
53Fanconi anemia pathway_Homo sapiens_hsa034601.06744173
54mTOR signaling pathway_Homo sapiens_hsa041501.05996711
55Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.02550015
56Leukocyte transendothelial migration_Homo sapiens_hsa046701.01924582
57Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.01049390
58Other glycan degradation_Homo sapiens_hsa005111.00919060
59Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.00098798
60Intestinal immune network for IgA production_Homo sapiens_hsa046720.99729464
61Base excision repair_Homo sapiens_hsa034100.98297187
62Notch signaling pathway_Homo sapiens_hsa043300.97454346
63Prolactin signaling pathway_Homo sapiens_hsa049170.95256784
64Prostate cancer_Homo sapiens_hsa052150.95052314
65HTLV-I infection_Homo sapiens_hsa051660.92794505
66Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.92470039
67Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.92183353
68Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.90940852
69N-Glycan biosynthesis_Homo sapiens_hsa005100.90923073
70Pathways in cancer_Homo sapiens_hsa052000.90432188
71Arachidonic acid metabolism_Homo sapiens_hsa005900.88946004
72Glutathione metabolism_Homo sapiens_hsa004800.88058471
73Insulin resistance_Homo sapiens_hsa049310.87268659
74Dilated cardiomyopathy_Homo sapiens_hsa054140.86911301
75Ovarian steroidogenesis_Homo sapiens_hsa049130.85860765
76Jak-STAT signaling pathway_Homo sapiens_hsa046300.84871517
77Tuberculosis_Homo sapiens_hsa051520.84647674
78Wnt signaling pathway_Homo sapiens_hsa043100.84300352
79Hedgehog signaling pathway_Homo sapiens_hsa043400.82257332
80Pancreatic cancer_Homo sapiens_hsa052120.82077178
81Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.82066456
82Lysosome_Homo sapiens_hsa041420.81968140
83Melanoma_Homo sapiens_hsa052180.81213646
84Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.81007565
85Salmonella infection_Homo sapiens_hsa051320.80226578
86Melanogenesis_Homo sapiens_hsa049160.77754086
87Hepatitis B_Homo sapiens_hsa051610.77647822
88Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.76946918
89NF-kappa B signaling pathway_Homo sapiens_hsa040640.75682306
90Steroid hormone biosynthesis_Homo sapiens_hsa001400.74242368
91Pyrimidine metabolism_Homo sapiens_hsa002400.74213542
92B cell receptor signaling pathway_Homo sapiens_hsa046620.74077893
93Sulfur metabolism_Homo sapiens_hsa009200.73716331
94Phagosome_Homo sapiens_hsa041450.73676847
95Neurotrophin signaling pathway_Homo sapiens_hsa047220.73548834
96Legionellosis_Homo sapiens_hsa051340.72472117
97Lysine degradation_Homo sapiens_hsa003100.72141561
98Adherens junction_Homo sapiens_hsa045200.71371833
99Shigellosis_Homo sapiens_hsa051310.71190081
100Circadian rhythm_Homo sapiens_hsa047100.70971453
101Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.70326176
102Ribosome_Homo sapiens_hsa030100.70160861
103Phenylalanine metabolism_Homo sapiens_hsa003600.69557601
104Pentose and glucuronate interconversions_Homo sapiens_hsa000400.69452070
105Measles_Homo sapiens_hsa051620.68803562
106Influenza A_Homo sapiens_hsa051640.68694368
107Inositol phosphate metabolism_Homo sapiens_hsa005620.68668397
108Colorectal cancer_Homo sapiens_hsa052100.68019878
109Arginine and proline metabolism_Homo sapiens_hsa003300.66945853
110Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.66847106
111Acute myeloid leukemia_Homo sapiens_hsa052210.65978416
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.65955867
113VEGF signaling pathway_Homo sapiens_hsa043700.63310866
114Alcoholism_Homo sapiens_hsa050340.62468762
115Regulation of actin cytoskeleton_Homo sapiens_hsa048100.62282296
116RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.61492632
117Pentose phosphate pathway_Homo sapiens_hsa000300.60789789
118Viral myocarditis_Homo sapiens_hsa054160.58901388
119Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.58425646
120Carbon metabolism_Homo sapiens_hsa012000.56677117
121Hematopoietic cell lineage_Homo sapiens_hsa046400.56220492
122DNA replication_Homo sapiens_hsa030300.55964439
123Central carbon metabolism in cancer_Homo sapiens_hsa052300.54789200
124FoxO signaling pathway_Homo sapiens_hsa040680.53894103
125Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53679233
126Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53360737
127Herpes simplex infection_Homo sapiens_hsa051680.53243855
128NOD-like receptor signaling pathway_Homo sapiens_hsa046210.53073652
129Non-small cell lung cancer_Homo sapiens_hsa052230.52634343
130Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.52161764
131AMPK signaling pathway_Homo sapiens_hsa041520.51270369
132Longevity regulating pathway - mammal_Homo sapiens_hsa042110.50236444
133RNA polymerase_Homo sapiens_hsa030200.48340194
134Fat digestion and absorption_Homo sapiens_hsa049750.48100993
135Metabolic pathways_Homo sapiens_hsa011000.46250748
136Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45465788
137Chemokine signaling pathway_Homo sapiens_hsa040620.45316247
138Endocytosis_Homo sapiens_hsa041440.44149100
139PPAR signaling pathway_Homo sapiens_hsa033200.43459924
140Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.43096071
141One carbon pool by folate_Homo sapiens_hsa006700.42225023
142Axon guidance_Homo sapiens_hsa043600.40738123
143Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39835363
144Carbohydrate digestion and absorption_Homo sapiens_hsa049730.38648120
145Glucagon signaling pathway_Homo sapiens_hsa049220.37416472
146Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.34434479
147Cell cycle_Homo sapiens_hsa041100.32966340
148Insulin signaling pathway_Homo sapiens_hsa049100.31595962
149Tyrosine metabolism_Homo sapiens_hsa003500.30177373
150Purine metabolism_Homo sapiens_hsa002300.28982985
151Mineral absorption_Homo sapiens_hsa049780.28916939
152Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.28382571
153Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.28312179
154Homologous recombination_Homo sapiens_hsa034400.28087129
155Glycerophospholipid metabolism_Homo sapiens_hsa005640.26992564
156Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.26630978
157Bile secretion_Homo sapiens_hsa049760.26161216
158Taste transduction_Homo sapiens_hsa047420.26117973
159Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.25806130
160Systemic lupus erythematosus_Homo sapiens_hsa053220.25288575
161Nucleotide excision repair_Homo sapiens_hsa034200.24820928
162Endometrial cancer_Homo sapiens_hsa052130.23098305
163Non-homologous end-joining_Homo sapiens_hsa034500.22733055
164Fatty acid degradation_Homo sapiens_hsa000710.22366664
165ABC transporters_Homo sapiens_hsa020100.21267851

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