CLDN22

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 member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and overlaps the 3' UTR of the WWC2 gene (GeneID: 80014) on the opposite strand. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1low-density lipoprotein particle clearance (GO:0034383)6.10993289
2white fat cell differentiation (GO:0050872)5.37026585
3transcytosis (GO:0045056)5.32887668
4brown fat cell differentiation (GO:0050873)4.98918035
5biotin metabolic process (GO:0006768)4.94782880
6triglyceride catabolic process (GO:0019433)4.85887520
7positive regulation of nitric-oxide synthase activity (GO:0051000)4.81008849
8valine metabolic process (GO:0006573)4.65291446
9neutral lipid catabolic process (GO:0046461)4.63513362
10acylglycerol catabolic process (GO:0046464)4.63513362
11protein neddylation (GO:0045116)4.56679885
12regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)4.28639898
13positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)4.28639898
14protein localization to cell surface (GO:0034394)4.22205533
15regulation of sequestering of triglyceride (GO:0010889)4.12244182
16positive regulation of receptor recycling (GO:0001921)4.11978799
17single strand break repair (GO:0000012)4.09829905
18water-soluble vitamin biosynthetic process (GO:0042364)4.01311011
19telomere maintenance via telomerase (GO:0007004)3.91521201
20mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.87853711
21replication fork processing (GO:0031297)3.79124920
22fatty acid homeostasis (GO:0055089)3.78241921
23cAMP biosynthetic process (GO:0006171)3.76438902
24ovulation from ovarian follicle (GO:0001542)3.75687948
25chaperone-mediated protein transport (GO:0072321)3.74895592
26epithelial cilium movement (GO:0003351)3.74636213
27establishment of protein localization to mitochondrial membrane (GO:0090151)3.73483294
28fatty acid transmembrane transport (GO:1902001)3.72556593
29protein kinase C signaling (GO:0070528)3.72457283
30regulation of phospholipid biosynthetic process (GO:0071071)3.68925804
31protein heterotrimerization (GO:0070208)3.65634947
32exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.57442131
33triglyceride biosynthetic process (GO:0019432)3.53772486
34negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.51220831
35synaptic vesicle exocytosis (GO:0016079)3.49771861
36ribosomal large subunit biogenesis (GO:0042273)3.47048976
37nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.46465103
38ribosomal small subunit biogenesis (GO:0042274)3.46378774
39epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.46269649
40Sertoli cell development (GO:0060009)3.41789750
41stress fiber assembly (GO:0043149)3.41624829
42mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.39169887
43cellular response to epinephrine stimulus (GO:0071872)3.38118495
44negative regulation of protein autophosphorylation (GO:0031953)3.35841408
45regulation of cholesterol storage (GO:0010885)3.35153250
46acylglycerol biosynthetic process (GO:0046463)3.35147657
47neutral lipid biosynthetic process (GO:0046460)3.35147657
48carnitine shuttle (GO:0006853)3.34277580
49regulation of cilium movement (GO:0003352)3.32776363
50mitochondrial DNA replication (GO:0006264)3.31265958
51regulation of mitochondrial translation (GO:0070129)3.30960839
52response to dietary excess (GO:0002021)3.25840217
53cilium movement (GO:0003341)3.25825393
54DNA replication checkpoint (GO:0000076)3.25332589
55spliceosomal complex assembly (GO:0000245)3.25251797
56transcription elongation from RNA polymerase III promoter (GO:0006385)3.25060559
57termination of RNA polymerase III transcription (GO:0006386)3.25060559
58NADH metabolic process (GO:0006734)3.24266758
59ubiquinone biosynthetic process (GO:0006744)3.24200793
60resolution of meiotic recombination intermediates (GO:0000712)3.18048621
61axonemal dynein complex assembly (GO:0070286)3.17731774
62negative regulation of gluconeogenesis (GO:0045721)3.17327067
63glycerolipid catabolic process (GO:0046503)3.16622364
64protein complex biogenesis (GO:0070271)3.14958867
65chromatin remodeling at centromere (GO:0031055)3.14568622
66behavioral response to nicotine (GO:0035095)3.11044713
67positive regulation of monooxygenase activity (GO:0032770)3.10448375
68nonmotile primary cilium assembly (GO:0035058)3.09920493
69negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)3.07166700
70ubiquinone metabolic process (GO:0006743)3.06841864
71positive regulation of triglyceride lipase activity (GO:0061365)3.06682736
72positive regulation of lipoprotein lipase activity (GO:0051006)3.06682736
73energy coupled proton transport, down electrochemical gradient (GO:0015985)3.06159599
74ATP synthesis coupled proton transport (GO:0015986)3.06159599
75DNA-dependent DNA replication (GO:0006261)3.05487002
76positive regulation of fatty acid oxidation (GO:0046321)3.02879310
77deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.02829345
78tRNA methylation (GO:0030488)3.02731805
79oxaloacetate metabolic process (GO:0006107)3.02531574
80regulation of MHC class I biosynthetic process (GO:0045343)2.99272619
81aldehyde catabolic process (GO:0046185)2.99084239
82response to vitamin E (GO:0033197)2.98358769
83auditory receptor cell differentiation (GO:0042491)2.95958166
84lipid particle organization (GO:0034389)2.94676509
85mitochondrial respiratory chain complex assembly (GO:0033108)2.93648724
86regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.92825581
87regulation of mitotic spindle checkpoint (GO:1903504)2.92825581
88ribonucleoprotein complex biogenesis (GO:0022613)2.92800588
89positive regulation of fatty acid beta-oxidation (GO:0032000)2.92543804
90electron transport chain (GO:0022900)2.91947041
91CENP-A containing nucleosome assembly (GO:0034080)2.91058973
92protein targeting to mitochondrion (GO:0006626)2.90885110
93respiratory electron transport chain (GO:0022904)2.90700263
94intraciliary transport (GO:0042073)2.90606943
95regulation of acyl-CoA biosynthetic process (GO:0050812)2.90221842
96respiratory chain complex IV assembly (GO:0008535)2.89596330
97RNA-dependent DNA replication (GO:0006278)2.89436327
98retina vasculature morphogenesis in camera-type eye (GO:0061299)2.89215622
99mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.88418604
100mitochondrial respiratory chain complex I assembly (GO:0032981)2.88418604
101NADH dehydrogenase complex assembly (GO:0010257)2.88418604
102clathrin coat assembly (GO:0048268)2.85475838
103pseudouridine synthesis (GO:0001522)2.84427091
104negative regulation of smooth muscle cell migration (GO:0014912)2.82556465
105cellular component biogenesis (GO:0044085)2.80743187
106regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.78867422
107negative regulation of leukocyte chemotaxis (GO:0002689)2.77851597
108fatty-acyl-CoA metabolic process (GO:0035337)2.77830676
109cornea development in camera-type eye (GO:0061303)2.77705146
110left/right pattern formation (GO:0060972)2.77583310
111maturation of SSU-rRNA (GO:0030490)2.77383236
112thioester biosynthetic process (GO:0035384)2.74454097
113acyl-CoA biosynthetic process (GO:0071616)2.74454097
114negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.74075375
115glucocorticoid receptor signaling pathway (GO:0042921)2.73411233
116glutamate secretion (GO:0014047)2.73248485
117triglyceride metabolic process (GO:0006641)2.73084244
118cytochrome complex assembly (GO:0017004)2.72937820
119rRNA modification (GO:0000154)2.72640398
120regulation of macrophage chemotaxis (GO:0010758)2.72283839
121response to redox state (GO:0051775)2.70905060
122purine nucleotide salvage (GO:0032261)2.70732196
123establishment of protein localization to mitochondrion (GO:0072655)2.70183638
124mitotic metaphase plate congression (GO:0007080)2.70089584
125neutral lipid metabolic process (GO:0006638)2.70069887
126protein heterotetramerization (GO:0051290)2.69168236
127growth hormone receptor signaling pathway (GO:0060396)2.68987301
128cotranslational protein targeting to membrane (GO:0006613)2.68773662
129regulation of cAMP-dependent protein kinase activity (GO:2000479)2.68771655
130maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.67380540
131positive regulation of macrophage cytokine production (GO:0060907)2.67266260
132regulation of glycogen (starch) synthase activity (GO:2000465)2.67148621
133translational termination (GO:0006415)2.66847045
134glomerular filtration (GO:0003094)2.66675703
135DNA damage response, detection of DNA damage (GO:0042769)2.66412413
136cilium morphogenesis (GO:0060271)2.64712639
137mitochondrial RNA metabolic process (GO:0000959)2.64589664
138SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.64018971
139long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.63794595
140regulation of macrophage derived foam cell differentiation (GO:0010743)2.63362035
141renal filtration (GO:0097205)2.62910357
142cyclic nucleotide biosynthetic process (GO:0009190)2.62417372
143viral transcription (GO:0019083)2.62289257
144pentose metabolic process (GO:0019321)2.62179619
145rRNA methylation (GO:0031167)2.60811852
146protein targeting to ER (GO:0045047)2.60796696
147kinetochore assembly (GO:0051382)2.60471425
148branched-chain amino acid metabolic process (GO:0009081)2.59959681
149regulation of cofactor metabolic process (GO:0051193)2.59721192
150regulation of coenzyme metabolic process (GO:0051196)2.59721192
151acylglycerol metabolic process (GO:0006639)2.59692685
152protein localization to mitochondrion (GO:0070585)2.59623266
153photoreceptor cell maintenance (GO:0045494)2.59468738
154positive regulation of glomerulus development (GO:0090193)2.59464537
155DNA double-strand break processing (GO:0000729)2.58406218
156regulation of collateral sprouting (GO:0048670)2.57839209
157kinetochore organization (GO:0051383)2.57696038
158L-serine transport (GO:0015825)2.57687105
159carnitine transmembrane transport (GO:1902603)2.57333674
160regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.57328391
161cyclic purine nucleotide metabolic process (GO:0052652)2.56916391
162fatty-acyl-CoA biosynthetic process (GO:0046949)2.56907755
163acetyl-CoA metabolic process (GO:0006084)2.56815939
164regulation of sulfur metabolic process (GO:0042762)2.56428243
165receptor internalization (GO:0031623)2.56090227
166protein localization to cilium (GO:0061512)2.56066200
167ribosome biogenesis (GO:0042254)2.55149608
168protein deneddylation (GO:0000338)2.55122323
169establishment of protein localization to endoplasmic reticulum (GO:0072599)2.54776092
170cullin deneddylation (GO:0010388)2.54655650
171histone exchange (GO:0043486)2.54420856
172branched-chain amino acid catabolic process (GO:0009083)2.54195233
173limb development (GO:0060173)2.53625466
174appendage development (GO:0048736)2.53625466
175L-ascorbic acid metabolic process (GO:0019852)2.53575271
176CDP-diacylglycerol biosynthetic process (GO:0016024)2.53093272
177response to xenobiotic stimulus (GO:0009410)2.50720182
178positive regulation of glucose import (GO:0046326)2.50530513
179somite development (GO:0061053)2.49471142
180melanosome localization (GO:0032400)2.47730973
181activation of protein kinase A activity (GO:0034199)2.47458058
182proteasome assembly (GO:0043248)2.46711676
183spinal cord development (GO:0021510)2.46682951
184negative regulation of telomere maintenance (GO:0032205)2.46546596
185positive regulation of cholesterol efflux (GO:0010875)2.46158403
186tRNA processing (GO:0008033)2.45981441
187quinone biosynthetic process (GO:1901663)2.45607520
188adherens junction assembly (GO:0034333)2.45519363
189protein localization to kinetochore (GO:0034501)2.45118434
190protein localization to endoplasmic reticulum (GO:0070972)2.44815559
191histone mRNA metabolic process (GO:0008334)2.44811169
192complement activation, alternative pathway (GO:0006957)2.44788610
193cell-substrate adherens junction assembly (GO:0007045)2.43578306
194focal adhesion assembly (GO:0048041)2.43578306
195long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.43570118
196plasma lipoprotein particle clearance (GO:0034381)2.43567925
197triglyceride homeostasis (GO:0070328)2.43392836
198acylglycerol homeostasis (GO:0055090)2.43392836
199fatty acid beta-oxidation (GO:0006635)2.42445606
200amino-acid betaine transport (GO:0015838)2.41545624

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.76226289
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.07578282
3TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.66891334
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.65342564
5CLOCK_20551151_ChIP-Seq_293T_Human3.52753304
6TRIM28_21343339_ChIP-Seq_HEK293_Human3.52395866
7TP63_17297297_ChIP-ChIP_HaCaT_Human3.44197961
8VDR_22108803_ChIP-Seq_LS180_Human3.20308019
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.96884448
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.77838096
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.65691822
12EWS_26573619_Chip-Seq_HEK293_Human2.51640243
13TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.46837676
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.42781832
15ZNF274_21170338_ChIP-Seq_K562_Hela2.42657121
16SALL1_21062744_ChIP-ChIP_HESCs_Human2.34244220
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.24357493
18ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.23004893
19ZNF263_19887448_ChIP-Seq_K562_Human2.06841456
20ETS1_20019798_ChIP-Seq_JURKAT_Human2.04501732
21NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.04212460
22EZH2_18974828_ChIP-Seq_MESCs_Mouse1.98586627
23RNF2_18974828_ChIP-Seq_MESCs_Mouse1.98586627
24RARG_19884340_ChIP-ChIP_MEFs_Mouse1.96475112
25NOTCH1_21737748_ChIP-Seq_TLL_Human1.96455859
26GATA2_21666600_ChIP-Seq_HMVEC_Human1.94401900
27P300_19829295_ChIP-Seq_ESCs_Human1.92070249
28ESR2_21235772_ChIP-Seq_MCF-7_Human1.91134272
29CDX2_19796622_ChIP-Seq_MESCs_Mouse1.88679006
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.85757571
31SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.81556202
32ELK1_19687146_ChIP-ChIP_HELA_Human1.79666970
33SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.78758500
34TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.76827865
35SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.76264106
36HIF1A_21447827_ChIP-Seq_MCF-7_Human1.74557657
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.71499769
38WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.71177691
39SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.69860423
40VDR_23849224_ChIP-Seq_CD4+_Human1.68503514
41FUS_26573619_Chip-Seq_HEK293_Human1.67907109
42CREB1_15753290_ChIP-ChIP_HEK293T_Human1.66307056
43DROSHA_22980978_ChIP-Seq_HELA_Human1.64118685
44GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.62177737
45HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.60938528
46FOXP3_21729870_ChIP-Seq_TREG_Human1.60029307
47MYC_18940864_ChIP-ChIP_HL60_Human1.59774595
48PPAR_26484153_Chip-Seq_NCI-H1993_Human1.59079987
49EZH2_22144423_ChIP-Seq_EOC_Human1.58603951
50ZNF217_24962896_ChIP-Seq_MCF-7_Human1.58382620
51AHR_22903824_ChIP-Seq_MCF-7_Human1.56572047
52E2F4_17652178_ChIP-ChIP_JURKAT_Human1.55214111
53PCGF2_27294783_Chip-Seq_ESCs_Mouse1.54344782
54JARID2_20075857_ChIP-Seq_MESCs_Mouse1.52218213
55CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.50243789
56NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.50242547
57SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.49868284
58E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.48358395
59MYC_18555785_ChIP-Seq_MESCs_Mouse1.47911460
60POU3F2_20337985_ChIP-ChIP_501MEL_Human1.47407134
61FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.46804407
62ERG_21242973_ChIP-ChIP_JURKAT_Human1.44075360
63MTF2_20144788_ChIP-Seq_MESCs_Mouse1.44033221
64PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.42534424
65PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.41842904
66CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.41572983
67LXR_22158963_ChIP-Seq_LIVER_Mouse1.40911639
68TCF4_18268006_ChIP-ChIP_LS174T_Human1.40727119
69CJUN_26792858_Chip-Seq_BT549_Human1.39170797
70CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.39110707
71TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.38726100
72EP300_21415370_ChIP-Seq_HL-1_Mouse1.38581164
73NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.38506702
74ESR1_21235772_ChIP-Seq_MCF-7_Human1.37237997
75GABP_19822575_ChIP-Seq_HepG2_Human1.37016399
76ELF1_17652178_ChIP-ChIP_JURKAT_Human1.36870387
77TP63_19390658_ChIP-ChIP_HaCaT_Human1.36081183
78ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.35374509
79EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.35225534
80TP53_18474530_ChIP-ChIP_U2OS_Human1.34763575
81NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.34279586
82BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.33180725
83IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.31781583
84CBP_20019798_ChIP-Seq_JUKART_Human1.31781583
85TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.31341030
86TP53_16413492_ChIP-PET_HCT116_Human1.30671542
87EZH2_27294783_Chip-Seq_NPCs_Mouse1.28458619
88EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.28094557
89CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.27108000
90TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27016171
91RXR_22158963_ChIP-Seq_LIVER_Mouse1.26998517
92FOXO3_23340844_ChIP-Seq_DLD1_Human1.26757696
93NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.25474130
94NRF2_20460467_ChIP-Seq_MEFs_Mouse1.25474130
95EED_16625203_ChIP-ChIP_MESCs_Mouse1.24760036
96JARID2_20064375_ChIP-Seq_MESCs_Mouse1.24370005
97GBX2_23144817_ChIP-Seq_PC3_Human1.23917006
98SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.23625787
99EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.22954564
100MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.22835199
101MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.22635682
102VDR_24787735_ChIP-Seq_THP-1_Human1.22206176
103RXR_22108803_ChIP-Seq_LS180_Human1.22075712
104SUZ12_27294783_Chip-Seq_NPCs_Mouse1.21810746
105ARNT_22903824_ChIP-Seq_MCF-7_Human1.20998800
106CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.20881707
107SOX2_20726797_ChIP-Seq_SW620_Human1.20845003
108* FOXA1_25329375_ChIP-Seq_VCAP_Human1.20524541
109* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.20524541
110ETV1_20927104_ChIP-Seq_GIST48_Human1.20354467
111KDM2B_26808549_Chip-Seq_SUP-B15_Human1.19756657
112RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.19423608
113TBX20_22328084_ChIP-Seq_HEART_Mouse1.19152896
114TBX20_22080862_ChIP-Seq_HEART_Mouse1.19152896
115SRF_21415370_ChIP-Seq_HL-1_Mouse1.18087244
116NR3C1_21868756_ChIP-Seq_MCF10A_Human1.18012988
117MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.17979966
118SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.17631482
119CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.17418564
120SMAD3_21741376_ChIP-Seq_EPCs_Human1.16815508
121WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16535540
122ER_23166858_ChIP-Seq_MCF-7_Human1.15988174
123CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.14596401
124TCF4_22108803_ChIP-Seq_LS180_Human1.13987490
125RBPJ_21746931_ChIP-Seq_IB4_Human1.13604326
126NFE2_27457419_Chip-Seq_LIVER_Mouse1.13602754
127NANOG_16153702_ChIP-ChIP_HESCs_Human1.13380584
128PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.13248933
129ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.12161284
130TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.11054203
131TTF2_22483619_ChIP-Seq_HELA_Human1.10951146
132* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10928363
133TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.10411461
134SALL4_18804426_ChIP-ChIP_XEN_Mouse1.10203946
135PIAS1_25552417_ChIP-Seq_VCAP_Human1.09331805
136SMAD_19615063_ChIP-ChIP_OVARY_Human1.08890181
137ISL1_27105846_Chip-Seq_CPCs_Mouse1.08578247
138ESR1_20079471_ChIP-ChIP_T-47D_Human1.08301868
139FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.07150011
140GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.06899803
141EZH2_27304074_Chip-Seq_ESCs_Mouse1.06403593
142AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.05993761
143PHF8_20622853_ChIP-Seq_HELA_Human1.05905307
144KDM2B_26808549_Chip-Seq_K562_Human1.05883388
145SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.05671595
146FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.04517447
147PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.03525467
148PADI4_21655091_ChIP-ChIP_MCF-7_Human1.03182073
149PCGF2_27294783_Chip-Seq_NPCs_Mouse1.03029901
150DNAJC2_21179169_ChIP-ChIP_NT2_Human1.01928005
151KLF5_20875108_ChIP-Seq_MESCs_Mouse1.01437264
152ZFP281_18757296_ChIP-ChIP_E14_Mouse1.00419361
153* SMAD4_21799915_ChIP-Seq_A2780_Human1.00153144
154RUNX2_22187159_ChIP-Seq_PCA_Human0.99897130
155FLI1_27457419_Chip-Seq_LIVER_Mouse0.99620196
156STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.99541222
157* SMAD4_21741376_ChIP-Seq_EPCs_Human0.99539190
158CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.98920279
159KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.98908650
160NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98800020
161CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.98785079
162SOX9_24532713_ChIP-Seq_HFSC_Mouse0.98675614
163HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.97256176
164UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.96595743
165JUN_21703547_ChIP-Seq_K562_Human0.95960713
166OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.95640796
167ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.95616605
168POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.95421558
169SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.94714866
170IRF1_19129219_ChIP-ChIP_H3396_Human0.94574036
171CTBP2_25329375_ChIP-Seq_LNCAP_Human0.94284564
172E2F1_18555785_ChIP-Seq_MESCs_Mouse0.93811021
173FOXA1_21572438_ChIP-Seq_LNCaP_Human0.93621557
174ELK3_25401928_ChIP-Seq_HUVEC_Human0.93421785
175PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.93212082
176MYC_19030024_ChIP-ChIP_MESCs_Mouse0.93157323
177TAF15_26573619_Chip-Seq_HEK293_Human0.92126461
178SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.92057528
179PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.91800345
180YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.91232821
181PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.91211010
182DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.90912316
183THAP11_20581084_ChIP-Seq_MESCs_Mouse0.90651356
184TP53_22573176_ChIP-Seq_HFKS_Human0.90271029
185NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.89735078
186BCAT_22108803_ChIP-Seq_LS180_Human0.89391647
187SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88488041
188FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.88480300
189WT1_19549856_ChIP-ChIP_CCG9911_Human0.88335474
190* SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.88158135
191CTNNB1_20460455_ChIP-Seq_HCT116_Human0.87590597
192KLF4_19829295_ChIP-Seq_ESCs_Human0.87252241

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003879_abnormal_hair_cell4.29907000
2MP0005670_abnormal_white_adipose4.03333046
3MP0003806_abnormal_nucleotide_metabolis3.63139185
4MP0005623_abnormal_meninges_morphology3.56760118
5MP0006054_spinal_hemorrhage3.56427039
6MP0001485_abnormal_pinna_reflex3.38732531
7MP0004130_abnormal_muscle_cell3.30280260
8MP0003878_abnormal_ear_physiology3.23221863
9MP0005377_hearing/vestibular/ear_phenot3.23221863
10MP0003941_abnormal_skin_development3.03338562
11MP0003567_abnormal_fetal_cardiomyocyte2.92709922
12MP0005666_abnormal_adipose_tissue2.82204948
13MP0002277_abnormal_respiratory_mucosa2.79367316
14MP0008438_abnormal_cutaneous_collagen2.74481334
15MP0000566_synostosis2.67849943
16MP0006292_abnormal_olfactory_placode2.65508798
17MP0004185_abnormal_adipocyte_glucose2.64624727
18MP0004272_abnormal_basement_membrane2.58961976
19MP0000013_abnormal_adipose_tissue2.54397502
20MP0002837_dystrophic_cardiac_calcinosis2.45859957
21MP0008058_abnormal_DNA_repair2.38664050
22MP0002163_abnormal_gland_morphology2.30879735
23MP0010329_abnormal_lipoprotein_level2.21443191
24MP0001984_abnormal_olfaction2.18460598
25MP0002876_abnormal_thyroid_physiology2.18081684
26MP0008877_abnormal_DNA_methylation2.18017284
27MP0010234_abnormal_vibrissa_follicle2.06245630
28MP0008775_abnormal_heart_ventricle2.04050749
29MP0005375_adipose_tissue_phenotype2.03761555
30MP0004043_abnormal_pH_regulation2.02922194
31MP0003828_pulmonary_edema1.96823323
32MP0008875_abnormal_xenobiotic_pharmacok1.95861493
33MP0000751_myopathy1.91515583
34MP0001486_abnormal_startle_reflex1.89178487
35MP0008789_abnormal_olfactory_epithelium1.87032444
36MP0002254_reproductive_system_inflammat1.83081028
37MP0010030_abnormal_orbit_morphology1.81357660
38MP0005408_hypopigmentation1.80094179
39MP0001986_abnormal_taste_sensitivity1.79561160
40MP0002282_abnormal_trachea_morphology1.77477350
41MP0001879_abnormal_lymphatic_vessel1.74705324
42MP0001188_hyperpigmentation1.73199491
43MP0004133_heterotaxia1.71840499
44MP0003705_abnormal_hypodermis_morpholog1.71781501
45MP0002653_abnormal_ependyma_morphology1.70136858
46MP0001661_extended_life_span1.68665950
47MP0000631_abnormal_neuroendocrine_gland1.67234163
48MP0006072_abnormal_retinal_apoptosis1.67056287
49MP0004147_increased_porphyrin_level1.65958842
50MP0004142_abnormal_muscle_tone1.65088245
51MP0003221_abnormal_cardiomyocyte_apopto1.63510084
52MP0003191_abnormal_cellular_cholesterol1.61217134
53MP0002272_abnormal_nervous_system1.60923267
54MP0005334_abnormal_fat_pad1.59894386
55MP0003195_calcinosis1.53610305
56MP0005275_abnormal_skin_tensile1.53497057
57MP0005187_abnormal_penis_morphology1.52779563
58MP0002734_abnormal_mechanical_nocicepti1.52301925
59MP0002938_white_spotting1.51449116
60MP0009697_abnormal_copulation1.49722751
61MP0002971_abnormal_brown_adipose1.48499565
62MP0001529_abnormal_vocalization1.46618500
63MP0000049_abnormal_middle_ear1.46115250
64MP0004859_abnormal_synaptic_plasticity1.44447313
65MP0009046_muscle_twitch1.44021287
66MP0003279_aneurysm1.43954468
67MP0001293_anophthalmia1.43200514
68MP0001346_abnormal_lacrimal_gland1.43186689
69MP0003045_fibrosis1.42492285
70MP0003121_genomic_imprinting1.42465699
71MP0003123_paternal_imprinting1.42255627
72MP0005551_abnormal_eye_electrophysiolog1.41530161
73MP0000003_abnormal_adipose_tissue1.40875974
74MP0001544_abnormal_cardiovascular_syste1.39722458
75MP0005385_cardiovascular_system_phenoty1.39722458
76MP0003718_maternal_effect1.38995067
77MP0003566_abnormal_cell_adhesion1.38734719
78MP0003787_abnormal_imprinting1.36012919
79MP0003880_abnormal_central_pattern1.35301318
80MP0001963_abnormal_hearing_physiology1.34540687
81MP0009780_abnormal_chondrocyte_physiolo1.34285291
82MP0001968_abnormal_touch/_nociception1.34196833
83MP0010368_abnormal_lymphatic_system1.34083953
84MP0009115_abnormal_fat_cell1.29622751
85MP0006138_congestive_heart_failure1.29056407
86MP0001881_abnormal_mammary_gland1.27380646
87MP0005423_abnormal_somatic_nervous1.26533481
88MP0003075_altered_response_to1.25468623
89MP0005379_endocrine/exocrine_gland_phen1.23802389
90MP0002736_abnormal_nociception_after1.23793339
91MP0003690_abnormal_glial_cell1.22536781
92MP0000516_abnormal_urinary_system1.19196364
93MP0005367_renal/urinary_system_phenotyp1.19196364
94MP0002102_abnormal_ear_morphology1.18865060
95MP0001970_abnormal_pain_threshold1.18421372
96MP0002138_abnormal_hepatobiliary_system1.17997844
97MP0002118_abnormal_lipid_homeostasis1.17866542
98MP0002160_abnormal_reproductive_system1.17501047
99MP0000343_altered_response_to1.16846163
100MP0004883_abnormal_blood_vessel1.16619027
101MP0004084_abnormal_cardiac_muscle1.16482812
102MP0006036_abnormal_mitochondrial_physio1.15344205
103MP0003937_abnormal_limbs/digits/tail_de1.14620130
104MP0003693_abnormal_embryo_hatching1.14535095
105MP0005394_taste/olfaction_phenotype1.14487761
106MP0005499_abnormal_olfactory_system1.14487761
107MP0000026_abnormal_inner_ear1.13981828
108MP0005167_abnormal_blood-brain_barrier1.13238878
109MP0003890_abnormal_embryonic-extraembry1.12672485
110MP0005248_abnormal_Harderian_gland1.12614987
111MP0009053_abnormal_anal_canal1.11927202
112MP0005084_abnormal_gallbladder_morpholo1.10928925
113MP0004036_abnormal_muscle_relaxation1.10052197
114MP0003938_abnormal_ear_development1.09983692
115MP0005332_abnormal_amino_acid1.08247289
116MP0001177_atelectasis1.08098532
117MP0002132_abnormal_respiratory_system1.07730414
118MP0005164_abnormal_response_to1.07061518
119MP0008872_abnormal_physiological_respon1.06890349
120MP0005535_abnormal_body_temperature1.06867001
121MP0004145_abnormal_muscle_electrophysio1.06832692
122MP0000778_abnormal_nervous_system1.05890803
123MP0001501_abnormal_sleep_pattern1.04856629
124MP0009745_abnormal_behavioral_response1.04029220
125MP0002233_abnormal_nose_morphology1.03345624
126MP0003183_abnormal_peptide_metabolism1.02319001
127MP0004957_abnormal_blastocyst_morpholog1.01636121
128MP0009379_abnormal_foot_pigmentation1.00624241
129MP0003186_abnormal_redox_activity0.99668517
130MP0001440_abnormal_grooming_behavior0.99632897
131MP0008007_abnormal_cellular_replicative0.99557203
132MP0005389_reproductive_system_phenotype0.99449147
133MP0001727_abnormal_embryo_implantation0.99071981
134MP0003252_abnormal_bile_duct0.99016300
135MP0001849_ear_inflammation0.98820790
136MP0002127_abnormal_cardiovascular_syste0.97534813
137MP0003724_increased_susceptibility_to0.97470035
138MP0008932_abnormal_embryonic_tissue0.96195077
139MP0002106_abnormal_muscle_physiology0.95952021
140MP0002210_abnormal_sex_determination0.94815306
141MP0002572_abnormal_emotion/affect_behav0.93643881
142MP0002733_abnormal_thermal_nociception0.92149693
143MP0005620_abnormal_muscle_contractility0.91138817
144MP0003950_abnormal_plasma_membrane0.90304425
145MP0005646_abnormal_pituitary_gland0.88645828
146MP0002909_abnormal_adrenal_gland0.88320951
147MP0001929_abnormal_gametogenesis0.88117554
148MP0005448_abnormal_energy_balance0.88033885
149MP0009250_abnormal_appendicular_skeleto0.86621340
150MP0003755_abnormal_palate_morphology0.86480774
151MP0004087_abnormal_muscle_fiber0.86394162
152MP0005365_abnormal_bile_salt0.86257528
153MP0000249_abnormal_blood_vessel0.86075671
154MP0000750_abnormal_muscle_regeneration0.85428847
155MP0006035_abnormal_mitochondrial_morpho0.84935427
156MP0010630_abnormal_cardiac_muscle0.84761692
157MP0002295_abnormal_pulmonary_circulatio0.84593250
158MP0004858_abnormal_nervous_system0.84329921
159MP0003119_abnormal_digestive_system0.84078369
160MP0000653_abnormal_sex_gland0.83891671
161MP0005595_abnormal_vascular_smooth0.83878895
162MP0003122_maternal_imprinting0.83782156
163MP0005266_abnormal_metabolism0.83655445
164MP0005369_muscle_phenotype0.82949018
165MP0002972_abnormal_cardiac_muscle0.82564114
166MP0003091_abnormal_cell_migration0.82357989
167MP0005647_abnormal_sex_gland0.80407563
168MP0002970_abnormal_white_adipose0.78940471
169MP0004019_abnormal_vitamin_homeostasis0.78702583
170MP0001119_abnormal_female_reproductive0.77752471
171MP0003136_yellow_coat_color0.77724047
172MP0001145_abnormal_male_reproductive0.77537342
173MP0006276_abnormal_autonomic_nervous0.77524819
174MP0002090_abnormal_vision0.77267169
175MP0002067_abnormal_sensory_capabilities0.76628204
176MP0003635_abnormal_synaptic_transmissio0.75696007
177MP0003385_abnormal_body_wall0.75651221
178MP0000609_abnormal_liver_physiology0.74615869
179MP0004264_abnormal_extraembryonic_tissu0.73738251
180MP0000749_muscle_degeneration0.73564075
181MP0002168_other_aberrant_phenotype0.73258318
182MP0009840_abnormal_foam_cell0.71468417
183MP0001756_abnormal_urination0.71389969
184MP0002133_abnormal_respiratory_system0.67452637
185MP0005388_respiratory_system_phenotype0.67452637
186MP0005360_urolithiasis0.64017931
187MP0004742_abnormal_vestibular_system0.63993061
188MP0003633_abnormal_nervous_system0.61289209
189MP0005503_abnormal_tendon_morphology0.61122071
190MP0000767_abnormal_smooth_muscle0.60747231
191MP0003959_abnormal_lean_body0.59588863
192MP0000230_abnormal_systemic_arterial0.56919146
193MP0000759_abnormal_skeletal_muscle0.56570108

Predicted human phenotypes

RankGene SetZ-score
1Autoimmune thrombocytopenia (HP:0001973)5.04664953
2Mesangial abnormality (HP:0001966)4.95394254
3Oligomenorrhea (HP:0000876)4.91952399
4Acanthosis nigricans (HP:0000956)4.84132281
5Pancreatic fibrosis (HP:0100732)4.46263668
6Muscle fiber splitting (HP:0003555)4.19698677
7True hermaphroditism (HP:0010459)4.10163546
8Pancreatic cysts (HP:0001737)4.09885493
9Hypertriglyceridemia (HP:0002155)3.94452858
103-Methylglutaconic aciduria (HP:0003535)3.86068096
11Visual hallucinations (HP:0002367)3.68265870
12Lymphangioma (HP:0100764)3.67069189
13Increased IgE level (HP:0003212)3.53971265
14Molar tooth sign on MRI (HP:0002419)3.53744389
15Abnormality of midbrain morphology (HP:0002418)3.53744389
16Medial flaring of the eyebrow (HP:0010747)3.52992900
17Increased connective tissue (HP:0009025)3.47352265
18Difficulty climbing stairs (HP:0003551)3.42691521
19Hypoalphalipoproteinemia (HP:0003233)3.40116177
20Complement deficiency (HP:0004431)3.40106069
21Hyperglycinuria (HP:0003108)3.38752154
22Cerebral aneurysm (HP:0004944)3.26881132
23Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.26040712
24Shallow orbits (HP:0000586)3.22480242
25Nephronophthisis (HP:0000090)3.22153959
26Cerebral inclusion bodies (HP:0100314)3.20693709
27Abnormal auditory evoked potentials (HP:0006958)3.18988828
28Nephrogenic diabetes insipidus (HP:0009806)3.15425732
29Facial diplegia (HP:0001349)3.02811939
30Difficulty running (HP:0009046)3.01551972
31Abnormality of the labia minora (HP:0012880)2.99847385
32Gait imbalance (HP:0002141)2.95222371
33Premature rupture of membranes (HP:0001788)2.92314154
34Sclerocornea (HP:0000647)2.91364014
35Congenital primary aphakia (HP:0007707)2.91295986
36Aortic aneurysm (HP:0004942)2.89208241
37Right ventricular cardiomyopathy (HP:0011663)2.88081330
38Acute necrotizing encephalopathy (HP:0006965)2.87685818
39Cystic liver disease (HP:0006706)2.85383902
40Abnormality of the renal medulla (HP:0100957)2.84071587
41Insulin-resistant diabetes mellitus (HP:0000831)2.81663278
42Increased hepatocellular lipid droplets (HP:0006565)2.80925845
43Colitis (HP:0002583)2.75575209
44Testicular atrophy (HP:0000029)2.74439500
45Reduced subcutaneous adipose tissue (HP:0003758)2.68370073
46Genital tract atresia (HP:0001827)2.68251071
47Chronic hepatic failure (HP:0100626)2.67390831
48Cupped ribs (HP:0000887)2.63285927
49Polyphagia (HP:0002591)2.62119249
50Subcapsular cataract (HP:0000523)2.62095324
51Aplasia/Hypoplasia of the tongue (HP:0010295)2.61189515
52Vascular tortuosity (HP:0004948)2.61037585
53Abnormal eating behavior (HP:0100738)2.59497145
54Vaginal atresia (HP:0000148)2.58393237
55Abnormality of skeletal muscle fiber size (HP:0012084)2.57951470
56Mitochondrial inheritance (HP:0001427)2.57141374
57Absent/shortened dynein arms (HP:0200106)2.56435488
58Dynein arm defect of respiratory motile cilia (HP:0012255)2.56435488
59Abnormal respiratory motile cilium physiology (HP:0012261)2.53658753
60Rhinitis (HP:0012384)2.49303009
61Abnormal respiratory motile cilium morphology (HP:0005938)2.48531392
62Abnormal respiratory epithelium morphology (HP:0012253)2.48531392
63Acute encephalopathy (HP:0006846)2.46694849
64Lipid accumulation in hepatocytes (HP:0006561)2.46353659
65B lymphocytopenia (HP:0010976)2.43497163
66Abnormality of B cell number (HP:0010975)2.43497163
67Septo-optic dysplasia (HP:0100842)2.43420271
68Progressive macrocephaly (HP:0004481)2.43192455
69Dyschromatopsia (HP:0007641)2.43085544
70Increased variability in muscle fiber diameter (HP:0003557)2.42255615
71Amblyopia (HP:0000646)2.40762623
72Abnormality of glycine metabolism (HP:0010895)2.40287803
73Abnormality of serine family amino acid metabolism (HP:0010894)2.40287803
74Protrusio acetabuli (HP:0003179)2.38460807
75Polygenic inheritance (HP:0010982)2.37472252
76Hydroxyprolinuria (HP:0003080)2.37037378
77Abnormality of proline metabolism (HP:0010907)2.37037378
78Hypoplastic labia majora (HP:0000059)2.36416002
79Abnormal mitochondria in muscle tissue (HP:0008316)2.35301175
80Abnormality of complement system (HP:0005339)2.34533225
81Postaxial foot polydactyly (HP:0001830)2.33407633
82Increased CSF lactate (HP:0002490)2.31822619
83Dilatation of the ascending aorta (HP:0005111)2.26799361
84Bile duct proliferation (HP:0001408)2.26741706
85Abnormal biliary tract physiology (HP:0012439)2.26741706
86Broad metatarsal (HP:0001783)2.26070556
87Aortic dissection (HP:0002647)2.24453950
88Skin nodule (HP:0200036)2.24396010
89Stenosis of the external auditory canal (HP:0000402)2.24154563
90Abnormality of renal resorption (HP:0011038)2.23966394
91Hyperthyroidism (HP:0000836)2.23599091
92Congenital stationary night blindness (HP:0007642)2.22654736
93Abolished electroretinogram (ERG) (HP:0000550)2.21781928
94Neck muscle weakness (HP:0000467)2.21734471
95Chronic bronchitis (HP:0004469)2.20571050
96Mitral valve prolapse (HP:0001634)2.20559080
97Venous abnormality (HP:0002624)2.19965386
98Abnormal ciliary motility (HP:0012262)2.19099380
99Male pseudohermaphroditism (HP:0000037)2.18770424
100Congenital hepatic fibrosis (HP:0002612)2.18626797
101Hypoplastic female external genitalia (HP:0012815)2.17380183
102Dandy-Walker malformation (HP:0001305)2.17045007
103Myocardial infarction (HP:0001658)2.15916425
104Labial hypoplasia (HP:0000066)2.15813849
105Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.15500836
106Abnormal glucose tolerance (HP:0001952)2.14910636
107Adrenal hypoplasia (HP:0000835)2.13963700
108Abnormality of the labia majora (HP:0012881)2.13926663
109Absent rod-and cone-mediated responses on ERG (HP:0007688)2.13611214
110Furrowed tongue (HP:0000221)2.13431359
111Poor coordination (HP:0002370)2.13053075
112Tubular atrophy (HP:0000092)2.12801729
113Supernumerary spleens (HP:0009799)2.12245467
114Anencephaly (HP:0002323)2.12055704
115Rapidly progressive (HP:0003678)2.11468186
116Aplasia/Hypoplasia of the sacrum (HP:0008517)2.10216927
117Abnormal rod and cone electroretinograms (HP:0008323)2.10001943
118Abnormality of the left ventricular outflow tract (HP:0011103)2.09562093
119Subaortic stenosis (HP:0001682)2.09562093
120Distal lower limb amyotrophy (HP:0008944)2.08566387
121Type II lissencephaly (HP:0007260)2.07051120
122Renal Fanconi syndrome (HP:0001994)2.06354961
123Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.05903067
124Ankle contracture (HP:0006466)2.04259403
125Hepatocellular necrosis (HP:0001404)2.04022060
126Patent foramen ovale (HP:0001655)2.02033281
127Autoimmune hemolytic anemia (HP:0001890)2.00264108
128Muscular dystrophy (HP:0003560)1.99400693
129Arterial tortuosity (HP:0005116)1.99136093
130Xanthomatosis (HP:0000991)1.98799103
131Multiple enchondromatosis (HP:0005701)1.97578882
132Optic disc pallor (HP:0000543)1.96116184
133Growth hormone excess (HP:0000845)1.95933140
134Sensory axonal neuropathy (HP:0003390)1.94883477
135Postaxial hand polydactyly (HP:0001162)1.94190439
136Stridor (HP:0010307)1.92938138
137Distal upper limb amyotrophy (HP:0007149)1.92890837
138Upper limb amyotrophy (HP:0009129)1.92890837
139Aplasia/Hypoplasia of the spleen (HP:0010451)1.92275699
140Insulin resistance (HP:0000855)1.90019184
141Abnormality of the labia (HP:0000058)1.89794007
142Enlarged penis (HP:0000040)1.89747636
143Hand muscle atrophy (HP:0009130)1.89571910
144Rib fusion (HP:0000902)1.89277820
145Action tremor (HP:0002345)1.89064148
146Shoulder girdle muscle weakness (HP:0003547)1.87702995
147Acanthocytosis (HP:0001927)1.87185229
148Hematochezia (HP:0002573)1.86821425
149Limb-girdle muscle atrophy (HP:0003797)1.86761876
150Asplenia (HP:0001746)1.86395354
151Reticulocytopenia (HP:0001896)1.85327931
152Systemic lupus erythematosus (HP:0002725)1.85182518
153Preaxial hand polydactyly (HP:0001177)1.84831328
154Decreased testicular size (HP:0008734)1.84260227
155Venous insufficiency (HP:0005293)1.84130737
156Thyroid-stimulating hormone excess (HP:0002925)1.83884914
157Annular pancreas (HP:0001734)1.83706948
158Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.83642366
159Decreased activity of mitochondrial respiratory chain (HP:0008972)1.83642366
160Decreased subcutaneous fat (HP:0001002)1.83009176
161Hypoplasia of the uterus (HP:0000013)1.82934453
162Optic nerve hypoplasia (HP:0000609)1.82707164
163Symphalangism affecting the phalanges of the hand (HP:0009773)1.82253813
164Spinal rigidity (HP:0003306)1.81149659
165Humeroradial synostosis (HP:0003041)1.80682752
166Synostosis involving the elbow (HP:0003938)1.80682752
167Absent septum pellucidum (HP:0001331)1.80020748
168Absent eyelashes (HP:0000561)1.79241231
169Birth length less than 3rd percentile (HP:0003561)1.78383740
170Bronchomalacia (HP:0002780)1.77934781
171Chromsome breakage (HP:0040012)1.77873922
172Cerebral edema (HP:0002181)1.77756695
173Cervical subluxation (HP:0003308)1.77160380
174Short nail (HP:0001799)1.76365185
175Methylmalonic acidemia (HP:0002912)1.75755375
176Abnormality of subcutaneous fat tissue (HP:0001001)1.74925075
177Distal lower limb muscle weakness (HP:0009053)1.74624987
178Focal motor seizures (HP:0011153)1.74332473
179Methylmalonic aciduria (HP:0012120)1.73872811
180Polar cataract (HP:0010696)1.73278998
181Severe visual impairment (HP:0001141)1.73275459
182Impaired social interactions (HP:0000735)1.72153237
183Abnormal social behavior (HP:0012433)1.72153237
184Abnormality of the lower motor neuron (HP:0002366)1.70784791
185Osteomalacia (HP:0002749)1.70777749
186Thyroiditis (HP:0100646)1.70362209
187Hepatic necrosis (HP:0002605)1.70248380
188Osteolytic defects of the hand bones (HP:0009699)1.69368166
189Osteolytic defects of the phalanges of the hand (HP:0009771)1.69368166
190Myotonia (HP:0002486)1.69024665
191Pelvic girdle muscle weakness (HP:0003749)1.68939233
192Abnormality of chromosome stability (HP:0003220)1.68669825
193Glucose intolerance (HP:0000833)1.68469489
194Exercise-induced myalgia (HP:0003738)1.68006043
195Aneurysm (HP:0002617)1.67865141
196EMG: myopathic abnormalities (HP:0003458)1.67159110
197Abnormality of cells of the erythroid lineage (HP:0012130)1.65932669
198Hyperventilation (HP:0002883)1.64957241
199Abnormal number of erythroid precursors (HP:0012131)1.64103529
200Disproportionate short-trunk short stature (HP:0003521)1.64055661

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK246.16476614
2PDK24.59264855
3STK38L3.85706648
4STK163.74104732
5TRIB33.58596922
6ERN13.23816247
7TIE13.20845685
8CAMK1D3.17877521
9WNK33.16156632
10PLK42.94428542
11BMPR1B2.93406173
12PTK2B2.75202161
13MST42.64390207
14CAMK1G2.62777325
15ACVR1B2.47675647
16MKNK22.42689423
17BCR2.35079299
18MAP3K62.27143377
19TGFBR22.24254933
20EPHA22.22051246
21PKN22.16820771
22BCKDK2.09879418
23MAP3K92.00587633
24FER1.99732494
25MAP2K41.98867976
26SIK11.95974912
27LMTK21.93905914
28BUB11.92595490
29TRIM281.90579072
30ERBB31.87945981
31DDR21.81040869
32CDK191.73705487
33PDK31.71358690
34PDK41.71358690
35GRK51.66719496
36STK31.64900705
37PLK21.60469307
38TTN1.57039385
39TNIK1.56035367
40RIPK11.51840764
41NEK61.51211234
42GRK61.48496581
43MYLK1.47164324
44MAPK121.44981577
45EIF2AK11.39549192
46BMPR21.38785592
47PBK1.38436189
48NUAK11.37359451
49FRK1.33510476
50NTRK31.30099874
51EPHB21.27914330
52ADRBK21.24572607
53NME11.21616157
54LATS21.20478687
55SCYL21.20380171
56CASK1.19894474
57CDC71.19748072
58ABL21.18631457
59TAF11.18339415
60DYRK21.15954327
61PRPF4B1.12322958
62CAMK11.11811304
63CDK81.10367296
64ZAK1.09268399
65CAMKK21.05681913
66EIF2AK31.05503297
67CDK61.05068994
68MKNK11.04990366
69PASK1.04027218
70PIK3CA1.00271165
71GRK10.99528821
72MAP3K40.99234115
73PDK10.99077089
74LATS10.97439233
75TGFBR10.97108370
76MAP2K10.96149168
77TTK0.93386674
78PAK40.92985725
79PDPK10.91939407
80WNK40.89908122
81MST1R0.89696307
82PLK10.88335214
83NME20.87623180
84FGFR20.87168794
85RET0.85715237
86MAPK70.84702513
87SIK30.83448526
88CDK30.83124770
89STK390.82230799
90FGFR30.81558207
91CAMKK10.80980159
92MINK10.80505299
93GRK70.78186747
94PTK60.77755400
95SRPK10.77569429
96FLT30.77564382
97PRKCG0.77280709
98OXSR10.76899647
99PDGFRA0.75079406
100PAK20.74132306
101PRKAA20.72853452
102PRKD30.72186642
103MAP2K70.72024213
104TEC0.71927771
105AKT30.71131290
106PHKG20.69665828
107PHKG10.69665828
108DAPK20.69473185
109CSNK1G20.68451145
110PRKCH0.68202451
111PLK30.68013345
112MAPK130.64908787
113EPHA40.63474506
114EPHB10.62985181
115VRK10.62811736
116PAK30.61074304
117ADRBK10.60142735
118MAP3K120.59280456
119CHEK20.58746962
120TRPM70.57464396
121PAK60.54874395
122VRK20.53967754
123NTRK10.53788483
124INSRR0.53571002
125MAP3K50.51849745
126MAPK150.50479430
127KSR20.50290201
128AURKA0.48164188
129PKN10.47682711
130LRRK20.44360568
131CSNK2A20.44272820
132TLK10.44032351
133CDK50.43996374
134PRKD10.43818768
135STK380.42205427
136ATM0.40538913
137FGR0.40160863
138MARK10.39555554
139FGFR10.38933045
140MAP3K110.37792605
141ATR0.37042870
142TAOK20.36830338
143PRKCE0.36521331
144MAP3K70.36083356
145CSNK2A10.35797436
146MARK30.35121936
147GSK3A0.34107772
148PRKACA0.33611217
149PRKCQ0.32784182
150FES0.32156174
151CAMK2A0.31736332
152PIM20.31586448
153CSNK1E0.31411394
154JAK10.31174337
155DMPK0.30515759
156CSNK1A1L0.30222811
157MAP2K30.30221159
158CSNK1D0.30183234
159ILK0.30105476
160MAP4K20.29888297
161CSNK1A10.29852898
162PRKAA10.29660440
163CCNB10.29307732
164AKT20.29171739
165ARAF0.28864451
166EIF2AK20.28623378
167PRKCI0.28303054
168MET0.28289382
169PRKG10.28081987
170ALK0.27906944
171SRC0.27806519
172PTK20.27126873
173KSR10.26791798
174IGF1R0.26654723
175MAPKAPK30.26053664
176DYRK30.25988828
177CDK70.25638695
178BMX0.25326472
179MAP3K20.24902742
180PRKACG0.23865987
181CHEK10.23737686

Predicted pathways (KEGG)

RankGene SetZ-score
1Regulation of lipolysis in adipocytes_Homo sapiens_hsa049233.65765125
2Fatty acid biosynthesis_Homo sapiens_hsa000613.26086041
3Protein export_Homo sapiens_hsa030603.25432916
4Ribosome_Homo sapiens_hsa030103.23536264
5Oxidative phosphorylation_Homo sapiens_hsa001903.15216635
6Caffeine metabolism_Homo sapiens_hsa002323.07230280
7PPAR signaling pathway_Homo sapiens_hsa033202.83303226
8Propanoate metabolism_Homo sapiens_hsa006402.77319898
9Proteasome_Homo sapiens_hsa030502.71680783
10Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.56207554
11RNA polymerase_Homo sapiens_hsa030202.55544362
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.40177836
13Parkinsons disease_Homo sapiens_hsa050122.38301110
14Mismatch repair_Homo sapiens_hsa034302.23611481
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.23412427
16Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.17987296
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.15474530
18Huntingtons disease_Homo sapiens_hsa050162.12500867
19Adipocytokine signaling pathway_Homo sapiens_hsa049202.10466939
20Glycerolipid metabolism_Homo sapiens_hsa005612.09778491
212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.05130518
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.99238684
23Folate biosynthesis_Homo sapiens_hsa007901.95731349
24Nitrogen metabolism_Homo sapiens_hsa009101.94725402
25Fatty acid metabolism_Homo sapiens_hsa012121.93051681
26AMPK signaling pathway_Homo sapiens_hsa041521.92831730
27Maturity onset diabetes of the young_Homo sapiens_hsa049501.86928736
28Homologous recombination_Homo sapiens_hsa034401.83093585
29Basal transcription factors_Homo sapiens_hsa030221.77721117
30Nucleotide excision repair_Homo sapiens_hsa034201.77305940
31Alzheimers disease_Homo sapiens_hsa050101.73191405
32Glutathione metabolism_Homo sapiens_hsa004801.71860436
33Nicotine addiction_Homo sapiens_hsa050331.70458263
34Fanconi anemia pathway_Homo sapiens_hsa034601.69052418
35DNA replication_Homo sapiens_hsa030301.67476039
36Phenylalanine metabolism_Homo sapiens_hsa003601.59699002
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.59676129
38RNA degradation_Homo sapiens_hsa030181.56687312
39Pyruvate metabolism_Homo sapiens_hsa006201.53301107
40Renin secretion_Homo sapiens_hsa049241.53213161
41Pyrimidine metabolism_Homo sapiens_hsa002401.47967938
42Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.42280729
43Cyanoamino acid metabolism_Homo sapiens_hsa004601.40460951
44Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.35602133
45Fatty acid degradation_Homo sapiens_hsa000711.34940766
46Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.34827443
47Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.33377170
48Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.29012041
49ECM-receptor interaction_Homo sapiens_hsa045121.28418625
50beta-Alanine metabolism_Homo sapiens_hsa004101.27390382
51Collecting duct acid secretion_Homo sapiens_hsa049661.27182732
52Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.25909357
53Focal adhesion_Homo sapiens_hsa045101.25390140
54Salivary secretion_Homo sapiens_hsa049701.23002631
55Dilated cardiomyopathy_Homo sapiens_hsa054141.22496311
56Insulin resistance_Homo sapiens_hsa049311.22416213
57Pentose and glucuronate interconversions_Homo sapiens_hsa000401.20920186
58Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.16329707
59Longevity regulating pathway - mammal_Homo sapiens_hsa042111.13337083
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.12606449
61Insulin signaling pathway_Homo sapiens_hsa049101.11902768
62Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.11213597
63Cysteine and methionine metabolism_Homo sapiens_hsa002701.08518886
64Carbon metabolism_Homo sapiens_hsa012001.08468739
65Vascular smooth muscle contraction_Homo sapiens_hsa042701.08364606
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.07406616
67RNA transport_Homo sapiens_hsa030131.06694005
68Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.06659211
69Purine metabolism_Homo sapiens_hsa002301.05540300
70Glucagon signaling pathway_Homo sapiens_hsa049221.03278564
71Linoleic acid metabolism_Homo sapiens_hsa005911.00956137
72Sulfur relay system_Homo sapiens_hsa041220.95830174
73Oxytocin signaling pathway_Homo sapiens_hsa049210.93780694
74Fat digestion and absorption_Homo sapiens_hsa049750.89313117
75p53 signaling pathway_Homo sapiens_hsa041150.88892999
76* Leukocyte transendothelial migration_Homo sapiens_hsa046700.88277124
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.87176063
78Base excision repair_Homo sapiens_hsa034100.87045884
79Gastric acid secretion_Homo sapiens_hsa049710.86598612
80One carbon pool by folate_Homo sapiens_hsa006700.86480097
81Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.86384235
82Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.85624016
83Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.84808803
84Staphylococcus aureus infection_Homo sapiens_hsa051500.83594165
85Retinol metabolism_Homo sapiens_hsa008300.83573882
86cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83344475
87Hedgehog signaling pathway_Homo sapiens_hsa043400.83066548
88Proteoglycans in cancer_Homo sapiens_hsa052050.81883662
89Spliceosome_Homo sapiens_hsa030400.81747232
90Aldosterone synthesis and secretion_Homo sapiens_hsa049250.81004539
91Primary bile acid biosynthesis_Homo sapiens_hsa001200.80666313
92Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.80322335
93GABAergic synapse_Homo sapiens_hsa047270.80257300
94Tyrosine metabolism_Homo sapiens_hsa003500.80191031
95Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.79999615
96Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.79893126
97Thyroid hormone synthesis_Homo sapiens_hsa049180.78903134
98Steroid biosynthesis_Homo sapiens_hsa001000.77293873
99Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.76654377
100Regulation of autophagy_Homo sapiens_hsa041400.76084454
101* Tight junction_Homo sapiens_hsa045300.75389373
102Type II diabetes mellitus_Homo sapiens_hsa049300.74559577
103Circadian entrainment_Homo sapiens_hsa047130.74459921
104Gap junction_Homo sapiens_hsa045400.74110354
105Non-homologous end-joining_Homo sapiens_hsa034500.72822341
106Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.72439892
107Sulfur metabolism_Homo sapiens_hsa009200.72012431
108Metabolic pathways_Homo sapiens_hsa011000.71430369
109cAMP signaling pathway_Homo sapiens_hsa040240.68969808
110Cholinergic synapse_Homo sapiens_hsa047250.68098711
111Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.67984934
112Dopaminergic synapse_Homo sapiens_hsa047280.67899827
113NOD-like receptor signaling pathway_Homo sapiens_hsa046210.67703097
114Arginine biosynthesis_Homo sapiens_hsa002200.66757074
115Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.66523755
116Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66129436
117Cardiac muscle contraction_Homo sapiens_hsa042600.65178838
118Protein digestion and absorption_Homo sapiens_hsa049740.65156944
119Arachidonic acid metabolism_Homo sapiens_hsa005900.64269588
120Melanogenesis_Homo sapiens_hsa049160.61897562
121Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.61774735
122mRNA surveillance pathway_Homo sapiens_hsa030150.61344812
123Calcium signaling pathway_Homo sapiens_hsa040200.60969005
124Estrogen signaling pathway_Homo sapiens_hsa049150.60861671
125alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.57976739
126Phototransduction_Homo sapiens_hsa047440.57960554
127Drug metabolism - other enzymes_Homo sapiens_hsa009830.57884624
128Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.57749421
129Adherens junction_Homo sapiens_hsa045200.56978890
130Basal cell carcinoma_Homo sapiens_hsa052170.56837755
131Rheumatoid arthritis_Homo sapiens_hsa053230.56254799
132Synaptic vesicle cycle_Homo sapiens_hsa047210.55538228
133Morphine addiction_Homo sapiens_hsa050320.55370117
134Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55314261
135Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53466820
136Vitamin B6 metabolism_Homo sapiens_hsa007500.53314705
137Rap1 signaling pathway_Homo sapiens_hsa040150.53225637
138Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.53030957
139Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.52746617
140Cell cycle_Homo sapiens_hsa041100.52017434
141AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.51782099
142Glutamatergic synapse_Homo sapiens_hsa047240.51387466
143HIF-1 signaling pathway_Homo sapiens_hsa040660.51154079
144Histidine metabolism_Homo sapiens_hsa003400.49986079
145Wnt signaling pathway_Homo sapiens_hsa043100.49816192
146Pertussis_Homo sapiens_hsa051330.49806133
147Amphetamine addiction_Homo sapiens_hsa050310.49427148
148Oocyte meiosis_Homo sapiens_hsa041140.48775316
149Amoebiasis_Homo sapiens_hsa051460.48639030
150VEGF signaling pathway_Homo sapiens_hsa043700.47948905
151Insulin secretion_Homo sapiens_hsa049110.47530215
152Glioma_Homo sapiens_hsa052140.46890831
153Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.45716789
154Complement and coagulation cascades_Homo sapiens_hsa046100.45609783
155Glycerophospholipid metabolism_Homo sapiens_hsa005640.45318082
156Toxoplasmosis_Homo sapiens_hsa051450.45174131
157GnRH signaling pathway_Homo sapiens_hsa049120.45115569
158Tryptophan metabolism_Homo sapiens_hsa003800.44619970
159Peroxisome_Homo sapiens_hsa041460.44614093
160Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.44418597
161FoxO signaling pathway_Homo sapiens_hsa040680.43594244
162Selenocompound metabolism_Homo sapiens_hsa004500.42741271
163PI3K-Akt signaling pathway_Homo sapiens_hsa041510.42023671
164Taste transduction_Homo sapiens_hsa047420.41808111
165Platelet activation_Homo sapiens_hsa046110.41666066
166Vitamin digestion and absorption_Homo sapiens_hsa049770.41472016
167Sphingolipid signaling pathway_Homo sapiens_hsa040710.38145362
168mTOR signaling pathway_Homo sapiens_hsa041500.37962909
169Chemical carcinogenesis_Homo sapiens_hsa052040.37879726
170Hippo signaling pathway_Homo sapiens_hsa043900.36831068
171Phospholipase D signaling pathway_Homo sapiens_hsa040720.36190423
172Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.35928759
173Central carbon metabolism in cancer_Homo sapiens_hsa052300.35569114
174Butanoate metabolism_Homo sapiens_hsa006500.34816776
175Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.34802514
176Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.34794463
177Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.34449493
178Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.34347552

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